{ "uniprot_canonical_ac": "O95140-1", "uniprot_ac": "O95140", "uniprot_id": "MFN2_HUMAN", "mass": { "chemical_mass": 86402.0, "monoisotopic_mass": 86402.0 }, "refseq": { "ac": "NP_001121132", "name": "mitofusin-2", "summary": "This gene encodes a mitochondrial membrane protein that participates in mitochondrial fusion and contributes to the maintenance and operation of the mitochondrial network. This protein is involved in the regulation of vascular smooth muscle cell proliferation, and it may play a role in the pathophysiology of obesity. Mutations in this gene cause Charcot-Marie-Tooth disease type 2A2, and hereditary motor and sensory neuropathy VI, which are both disorders of the peripheral nervous system. Defects in this gene have also been associated with early-onset stroke. Two transcript variants encoding the same protein have been identified. [provided by RefSeq, Jul 2008].", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001121132" }, "gene_names": [ { "name": "MFN2", "resource": "UniProtKB", "type": "recommended", "url": "https://www.uniprot.org/uniprot/O95140", "id": "O95140" }, { "name": "CMT2A; CMT2A2; CMT2A2A; CMT2A2B; CPRP1; HMSN6A; HSG; MARF; MSL", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001121132", "id": "NP_001121132" }, { "name": "CPRP1", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprot/O95140", "id": "O95140" }, { "name": "KIAA0214", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprot/O95140", "id": "O95140" }, { "name": "MFN2", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001121132", "id": "NP_001121132" } ], "protein_names": [ { "name": "Mitofusin-2", "resource": "UniProtKB", "type": "recommended", "url": "", "id": "O95140" }, { "name": "3.6.5.-", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "O95140" }, { "name": "Transmembrane GTPase MFN2", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "O95140" }, { "name": "hyperplasia suppressor; mitochondrial assembly regulatory factor; transmembrane GTPase MFN2", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001121132", "id": "NP_001121132" }, { "name": "mitofusin-2", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001121132", "id": "NP_001121132" } ], "function": [ { "annotation": "A human mitofusin 2 mutation can cause mitophagic cardiomyopathy. Publication Status: Online-Only", "evidence": [ { "database": "RefSeq", "id": "NP_001121132", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001121132" }, { "database": "PubMed", "id": "37910431", "url": "https://glygen.org/publication/PubMed/37910431" } ] }, { "annotation": "CMT2A-linked MFN2 mutation, T206I promotes mitochondrial hyperfusion and predisposes cells towards mitophagy.", "evidence": [ { "database": "RefSeq", "id": "NP_001121132", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001121132" }, { "database": "PubMed", "id": "38092249", "url": "https://glygen.org/publication/PubMed/38092249" } ] }, { "annotation": "Clinicopathologic features of two unrelated autopsied patients with Charcot-Marie-Tooth disease carrying MFN2 gene mutation. Publication Status: Online-Only", "evidence": [ { "database": "RefSeq", "id": "NP_001121132", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001121132" }, { "database": "PubMed", "id": "38124143", "url": "https://glygen.org/publication/PubMed/38124143" } ] }, { "annotation": "Drp1 and Mfn2, but not other proteins implicated in the regulation of mitochondrial morphology, colocalize with Bax in apoptotic foci", "evidence": [ { "database": "RefSeq", "id": "NP_001121132", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001121132" }, { "database": "PubMed", "id": "12499352", "url": "https://glygen.org/publication/PubMed/12499352" } ] }, { "annotation": "Mitochondrial outer membrane GTPase that mediates mitochondrial clustering and fusion (PubMed:11181170, PubMed:11950885, PubMed:26214738, PubMed:28114303). Mitochondria are highly dynamic organelles, and their morphology is determined by the equilibrium between mitochondrial fusion and fission events (PubMed:28114303). Overexpression induces the formation of mitochondrial networks (PubMed:28114303). Membrane clustering requires GTPase activity and may involve a major rearrangement of the coiled coil domains (Probable). Plays a central role in mitochondrial metabolism and may be associated with obesity and/or apoptosis processes (By similarity). Plays an important role in the regulation of vascular smooth muscle cell proliferation (By similarity). Involved in the clearance of damaged mitochondria via selective autophagy (mitophagy) (PubMed:23620051). Is required for PRKN recruitment to dysfunctional mitochondria (PubMed:23620051). Involved in the control of unfolded protein response (UPR) upon ER stress including activation of apoptosis and autophagy during ER stress (By similarity). Acts as an upstream regulator of EIF2AK3 and suppresses EIF2AK3 activation under basal conditions (By similarity).", "evidence": [ { "database": "UniProtKB", "id": "O95140", "url": "https://www.uniprot.org/uniprot/O95140#function" }, { "database": "UniProtKB", "id": "Q80U63", "url": "https://www.uniprot.org/uniprot/Q80U63#function" }, { "database": "PubMed", "id": "28114303", "url": "https://glygen.org/publication/PubMed/28114303" }, { "database": "UniProtKB", "id": "Q8R500", "url": "https://www.uniprot.org/uniprot/Q8R500#function" }, { "database": "PubMed", "id": "23620051", "url": "https://glygen.org/publication/PubMed/23620051" }, { "database": "PubMed", "id": "11950885", "url": "https://glygen.org/publication/PubMed/11950885" }, { "database": "PubMed", "id": "11181170", "url": "https://glygen.org/publication/PubMed/11181170" }, { "database": "PubMed", "id": "26085578", "url": "https://glygen.org/publication/PubMed/26085578" }, { "database": "PubMed", "id": "26214738", "url": "https://glygen.org/publication/PubMed/26214738" } ] }, { "annotation": "Results show that Fzo homologs mitofusin 1 and 2 are ubiquitous mitochondrial membrane proteins that interact with each other to facilitate mitochondrial targeting.", "evidence": [ { "database": "RefSeq", "id": "NP_001121132", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001121132" }, { "database": "PubMed", "id": "11950885", "url": "https://glygen.org/publication/PubMed/11950885" } ] }, { "annotation": "Role of mitochondrial fusion proteins MFN2 and OPA1 on lung cellular senescence in chronic obstructive pulmonary disease. Publication Status: Online-Only", "evidence": [ { "database": "RefSeq", "id": "NP_001121132", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001121132" }, { "database": "PubMed", "id": "38110986", "url": "https://glygen.org/publication/PubMed/38110986" } ] }, { "annotation": "This gene encodes a mitochondrial membrane protein that participates in mitochondrial fusion and contributes to the maintenance and operation of the mitochondrial network. This protein is involved in the regulation of vascular smooth muscle cell proliferation, and it may play a role in the pathophysiology of obesity. Mutations in this gene cause Charcot-Marie-Tooth disease type 2A2, and hereditary motor and sensory neuropathy VI, which are both disorders of the peripheral nervous system. Defects in this gene have also been associated with early-onset stroke. Two transcript variants encoding the same protein have been identified. [provided by RefSeq, Jul 2008].", "evidence": [ { "database": "RefSeq", "id": "NP_001121132", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001121132" } ] } ], "disease": [ { "disease_id": "DOID:0080068", "recommended_name": { "id": "DOID:0080068", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0080068", "name": "Charcot-Marie-Tooth disease type 6", "description": "A Charcot-Marie-Tooth disease that is characterized by early-onset optic atrophy resulting in progressive visual loss and peripheral axonal sensorimotor neuropathy with highly variable age at onset and severity." }, "synonyms": [ { "id": "DOID:0080068", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0080068", "name": "hereditary motor and sensory neuropathy type 6", "description": "" }, { "id": "MONDO:0011002", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011002", "name": "neuropathy, hereditary motor and sensory, type 6A", "description": "Any hereditary motor and sensory neuropathy type 6 in which the cause of the disease is a mutation in the MFN2 gene." }, { "id": "MONDO:0011002", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011002", "name": "Charcot-Marie-Tooth disease, type 6", "description": "" }, { "id": "MONDO:0011002", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011002", "name": "neuropathy, hereditary motor and sensory, type 6", "description": "" }, { "id": "MONDO:0011002", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011002", "name": "peripheral neuropathy and optic atrophy", "description": "" }, { "id": "MONDO:0011002", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011002", "name": "Charcot-Marie-Tooth disease, type 6A", "description": "" }, { "id": "MONDO:0011002", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011002", "name": "HMSN6A", "description": "" }, { "id": "MONDO:0011002", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011002", "name": "MFN2 hereditary motor and sensory neuropathy type 6", "description": "" }, { "id": "MONDO:0011002", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011002", "name": "hereditary motor and sensory neuropathy VIA", "description": "" }, { "id": "MONDO:0011002", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011002", "name": "hereditary motor and sensory neuropathy type 6 caused by mutation in MFN2", "description": "" }, { "id": "MONDO:0011002", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011002", "name": "neuropathy, hereditary motor and sensory, type VIA", "description": "" }, { "id": "MONDO:0011002", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011002", "name": "HMSN 6A", "description": "" }, { "id": "MONDO:0014671", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014671", "name": "neuropathy, hereditary motor and sensory, type 6B", "description": "Any hereditary motor and sensory neuropathy type 6 in which the cause of the disease is a mutation in the SLC25A46 gene." }, { "id": "MONDO:0014671", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014671", "name": "CMT6B", "description": "" }, { "id": "MONDO:0014671", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014671", "name": "Charcot-Marie-Tooth disease, type 6B", "description": "" }, { "id": "MONDO:0014671", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014671", "name": "HMSN 6B", "description": "" }, { "id": "MONDO:0014671", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014671", "name": "HMSN6B", "description": "" }, { "id": "MONDO:0014671", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014671", "name": "SLC25A46 hereditary motor and sensory neuropathy type 6", "description": "" }, { "id": "MONDO:0014671", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014671", "name": "hereditary motor and sensory neuropathy type 6 caused by mutation in SLC25A46", "description": "" }, { "id": "MONDO:0014671", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014671", "name": "neuropathy, hereditary motor and sensory, type 6B", "description": "" }, { "id": "MONDO:0014671", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014671", "name": "neuropathy, hereditary motor and sensory, type VIB", "description": "" }, { "id": "MIM:601152", "resource": "MIM", "url": "https://www.omim.org/entry/601152", "name": "Neuropathy, hereditary motor and sensory, 6A, with optic atrophy", "description": "Neuropathy, hereditary motor and sensory, 6A, with optic atrophy" }, { "id": "MIM:616505", "resource": "MIM", "url": "https://www.omim.org/entry/616505", "name": "Neuropathy, hereditary motor and sensory, 6B, with optic atrophy", "description": "Neuropathy, hereditary motor and sensory, 6B, with optic atrophy" } ], "evidence": [ { "id": "601152", "database": "MIM", "url": "https://www.omim.org/entry/601152" } ] }, { "disease_id": "DOID:0110155", "recommended_name": { "id": "DOID:0110155", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110155", "name": "Charcot-Marie-Tooth disease type 2A2A", "description": "A Charcot-Marie-Tooth disease type 2 that has_material_basis_in heterozygous mutation in the MFN2 gene on chromosome 1p36.22." }, "synonyms": [ { "id": "DOID:0110155", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110155", "name": "autosomal dominant axonal Charcot-Marie-Tooth disease type 2A2", "description": "" }, { "id": "DOID:0110155", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110155", "name": "CMT2A2A", "description": "" }, { "id": "DOID:0110155", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110155", "name": "Charcot-Marie-Tooth neuronal type 2A2", "description": "" }, { "id": "DOID:0110155", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110155", "name": "Charcot-Marie-Tooth neuropathy type 2A2", "description": "" }, { "id": "DOID:0110155", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110155", "name": "HMSN IIA2", "description": "" }, { "id": "DOID:0110155", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110155", "name": "HMSN2A2", "description": "" }, { "id": "DOID:0110155", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110155", "name": "hereditary motor and sensory neuropathy IIA2", "description": "" }, { "id": "MONDO:0012231", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012231", "name": "Charcot-Marie-Tooth disease type 2A2", "description": "Autosomal dominant Charcot-Marie-Tooth disease type 2A2 (CMT2A2) is a subtype of Autosomal dominant Charcot-Marie-Tooth disease type 2 characterized by the childhood onset of distal weakness and areflexia (with earlier and more severe involvement of the lower extremities), reduced sensory modalities (primarily pain and temperature sensation), foot deformities, postural tremor, scoliosis and contractures. Optic atrophy, vocal cord palsy with dysphonia, sensorineural hearing loss, spinal cord abnormalities and hydrocephalus have also been reported." }, { "id": "MONDO:0012231", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012231", "name": "CMT2A2", "description": "" }, { "id": "MONDO:0012231", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012231", "name": "Charcot-Marie-Tooth disease type 2 caused by mutation in MFN2", "description": "" }, { "id": "MONDO:0012231", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012231", "name": "Charcot-Marie-Tooth disease type 2A2A", "description": "" }, { "id": "MONDO:0012231", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012231", "name": "Charcot-Marie-Tooth disease, axonal, type 2A2A", "description": "" }, { "id": "MONDO:0012231", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012231", "name": "Charcot-Marie-Tooth neuronal type 2A2", "description": "" }, { "id": "MONDO:0012231", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012231", "name": "Charcot-Marie-Tooth neuropathy type 2A2", "description": "" }, { "id": "MONDO:0012231", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012231", "name": "HMSN IIA2", "description": "" }, { "id": "MONDO:0012231", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012231", "name": "HMSN2A2", "description": "" }, { "id": "MONDO:0012231", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012231", "name": "MFN2 Charcot-Marie-Tooth disease type 2", "description": "" }, { "id": "MONDO:0012231", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012231", "name": "autosomal dominant axonal Charcot-Marie-Tooth disease type 2A2", "description": "" }, { "id": "MONDO:0012231", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012231", "name": "hereditary motor and sensory neuropathy IIA2", "description": "" }, { "id": "MONDO:0012231", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012231", "name": "CMT2A2A", "description": "" }, { "id": "MONDO:0012231", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012231", "name": "Charcot-Marie-Tooth disease, axonal, autosomal dominant, type 2A2", "description": "" }, { "id": "MONDO:0012231", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012231", "name": "Charcot-Marie-Tooth disease, axonal, autosomal dominant, type 2A2A", "description": "" }, { "id": "MONDO:0012231", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012231", "name": "Charcot-Marie-Tooth disease, axonal, type 2A2", "description": "" }, { "id": "MONDO:0012231", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012231", "name": "Charcot-Marie-Tooth disease, neuronal, type 2A2", "description": "" }, { "id": "MONDO:0012231", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012231", "name": "Charcot-Marie-Tooth neuropathy, type 2A2", "description": "" }, { "id": "MONDO:0012231", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012231", "name": "HMSN IIa2", "description": "" }, { "id": "MONDO:0012231", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012231", "name": "autosomal dominant Charcot-Marie-Tooth disease type 2A2", "description": "" }, { "id": "MONDO:0012231", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012231", "name": "hereditary motor and sensory neuropathy IIa2", "description": "" }, { "id": "MIM:609260", "resource": "MIM", "url": "https://www.omim.org/entry/609260", "name": "Charcot-Marie-Tooth disease, axonal, 2A2A", "description": "Charcot-Marie-Tooth disease, axonal, 2A2A" } ], "evidence": [ { "id": "609260", "database": "MIM", "url": "https://www.omim.org/entry/609260" } ] }, { "disease_id": "DOID:0111557", "recommended_name": { "id": "DOID:0111557", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0111557", "name": "Charcot-Marie-Tooth disease type 2A2B", "description": "A Charcot-Marie-Tooth disease type 2 characterized by onset of peripheral neuropathy in the first years of life that has_material_basis_in homozygous or compound heterozygous mutation in the MFN2 gene on chromosome 1p36.22." }, "synonyms": [ { "id": "DOID:0111557", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0111557", "name": "AR-CMT2, Ouvrier type", "description": "" }, { "id": "DOID:0111557", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0111557", "name": "autosomal recessive Charcot-Marie-Tooth disease, Ouvrier type", "description": "" }, { "id": "DOID:0111557", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0111557", "name": "CMT2A2B", "description": "" }, { "id": "DOID:0111557", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0111557", "name": "Charcot-Marie-Tooth disease, axonal, type 2A2B", "description": "" }, { "id": "DOID:0111557", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0111557", "name": "SEOAN due to MFN2 deficiency", "description": "" }, { "id": "DOID:0111557", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0111557", "name": "severe early-onset axonal neuropathy due to MFN2 deficiency", "description": "" }, { "id": "MONDO:0014906", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014906", "name": "Charcot-Marie-Tooth disease, axonal, autosomal recessive, type 2a2b;", "description": "An autosomal recessive sub-type of Charcot-Marie-Tooth disease caused by compound heterozygous or homozygous mutation(s) in the MFN2 gene, encoding mitofusin-2. This condition is more severe and has an earlier onset as compared to Charcot-Marie-Tooth disease type 2A2A." }, { "id": "MONDO:0014906", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014906", "name": "Charcot-Marie-Tooth disease type 2A2B", "description": "" }, { "id": "MONDO:0014906", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014906", "name": "Charcot-Marie-Tooth disease, axonal, type 2A2B", "description": "" }, { "id": "MONDO:0014906", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014906", "name": "CMT2A2B", "description": "" }, { "id": "MONDO:0014906", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014906", "name": "Charcot-Marie-Tooth disease, axonal, autosomal recessive, type 2A2B", "description": "" }, { "id": "MIM:617087", "resource": "MIM", "url": "https://www.omim.org/entry/617087", "name": "Charcot-Marie-Tooth disease, axonal, 2A2B", "description": "Charcot-Marie-Tooth disease, axonal, 2A2B" } ], "evidence": [ { "id": "617087", "database": "MIM", "url": "https://www.omim.org/entry/617087" } ] } ], "snv": [], "mutagenesis": [ { "start_pos": 109, "end_pos": 109, "sequence_org": "K", "sequence_mut": "A", "comment": "Does not affect its ability to cluster mitochondria; when overexpressed.", "evidence": [ { "database": "UniProtKB", "id": "O95140", "url": "https://www.uniprot.org/uniprot/O95140" }, { "database": "PubMed", "id": "11950885", "url": "https://glygen.org/publication/PubMed/11950885" }, { "database": "PubMed", "id": "11181170", "url": "https://glygen.org/publication/PubMed/11181170" } ] }, { "start_pos": 109, "end_pos": 109, "sequence_org": "K", "sequence_mut": "T", "comment": "Does not affect its ability to cluster mitochondria; when overexpressed.", "evidence": [ { "database": "UniProtKB", "id": "O95140", "url": "https://www.uniprot.org/uniprot/O95140" }, { "database": "PubMed", "id": "11950885", "url": "https://glygen.org/publication/PubMed/11950885" }, { "database": "PubMed", "id": "11181170", "url": "https://glygen.org/publication/PubMed/11181170" } ] }, { "start_pos": 110, "end_pos": 110, "sequence_org": "S", "sequence_mut": "N", "comment": "Does not affect its ability to cluster mitochondria; when overexpressed.", "evidence": [ { "database": "UniProtKB", "id": "O95140", "url": "https://www.uniprot.org/uniprot/O95140" }, { "database": "PubMed", "id": "11950885", "url": "https://glygen.org/publication/PubMed/11950885" } ] }, { "start_pos": 111, "end_pos": 111, "sequence_org": "T", "sequence_mut": "A", "comment": "Diminishes interaction with PRKN in presence of PINK1. Abolishes phosphorylation by PINK1 and interaction with PRKN in presence of PINK1; when associated with Ala-442.", "evidence": [ { "database": "UniProtKB", "id": "O95140", "url": "https://www.uniprot.org/uniprot/O95140" }, { "database": "PubMed", "id": "23620051", "url": "https://glygen.org/publication/PubMed/23620051" } ] }, { "start_pos": 111, "end_pos": 111, "sequence_org": "T", "sequence_mut": "E", "comment": "Interacts with PRKN in absence of PINK1; when associated with Glu-442.", "evidence": [ { "database": "UniProtKB", "id": "O95140", "url": "https://www.uniprot.org/uniprot/O95140" }, { "database": "PubMed", "id": "23620051", "url": "https://glygen.org/publication/PubMed/23620051" } ] }, { "start_pos": 128, "end_pos": 128, "sequence_org": "H", "sequence_mut": "A", "comment": "Loss of function in promoting mitochondrial fusion.", "evidence": [ { "database": "UniProtKB", "id": "O95140", "url": "https://www.uniprot.org/uniprot/O95140" }, { "database": "PubMed", "id": "28114303", "url": "https://glygen.org/publication/PubMed/28114303" } ] }, { "start_pos": 230, "end_pos": 230, "sequence_org": "E", "sequence_mut": "A", "comment": "Loss of function in promoting mitochondrial fusion.", "evidence": [ { "database": "UniProtKB", "id": "O95140", "url": "https://www.uniprot.org/uniprot/O95140" }, { "database": "PubMed", "id": "28114303", "url": "https://glygen.org/publication/PubMed/28114303" } ] }, { "start_pos": 259, "end_pos": 259, "sequence_org": "R", "sequence_mut": "A", "comment": "Loss of function in promoting mitochondrial fusion.", "evidence": [ { "database": "UniProtKB", "id": "O95140", "url": "https://www.uniprot.org/uniprot/O95140" }, { "database": "PubMed", "id": "28114303", "url": "https://glygen.org/publication/PubMed/28114303" } ] }, { "start_pos": 259, "end_pos": 259, "sequence_org": "R", "sequence_mut": "L", "comment": "Does not affect its ability to cluster mitochondria; when overexpressed.", "evidence": [ { "database": "UniProtKB", "id": "O95140", "url": "https://www.uniprot.org/uniprot/O95140" }, { "database": "PubMed", "id": "11950885", "url": "https://glygen.org/publication/PubMed/11950885" } ] }, { "start_pos": 260, "end_pos": 260, "sequence_org": "W", "sequence_mut": "A", "comment": "Loss of function in promoting mitochondrial fusion.", "evidence": [ { "database": "UniProtKB", "id": "O95140", "url": "https://www.uniprot.org/uniprot/O95140" }, { "database": "PubMed", "id": "28114303", "url": "https://glygen.org/publication/PubMed/28114303" } ] }, { "start_pos": 266, "end_pos": 266, "sequence_org": "E", "sequence_mut": "A", "comment": "Loss of function in promoting mitochondrial fusion.", "evidence": [ { "database": "UniProtKB", "id": "O95140", "url": "https://www.uniprot.org/uniprot/O95140" }, { "database": "PubMed", "id": "28114303", "url": "https://glygen.org/publication/PubMed/28114303" } ] }, { "start_pos": 442, "end_pos": 442, "sequence_org": "S", "sequence_mut": "A", "comment": "Diminishes interaction with PRKN in presence of PINK1. Abolishes phosphorylation by PINK1 and interaction with PRKN in presence of PINK1; when associated with Ala-111.", "evidence": [ { "database": "UniProtKB", "id": "O95140", "url": "https://www.uniprot.org/uniprot/O95140" }, { "database": "PubMed", "id": "23620051", "url": "https://glygen.org/publication/PubMed/23620051" } ] }, { "start_pos": 442, "end_pos": 442, "sequence_org": "S", "sequence_mut": "E", "comment": "Interacts with PRKN in absence of PINK1; when associated with Glu-111.", "evidence": [ { "database": "UniProtKB", "id": "O95140", "url": "https://www.uniprot.org/uniprot/O95140" }, { "database": "PubMed", "id": "23620051", "url": "https://glygen.org/publication/PubMed/23620051" } ] }, { "start_pos": 622, "end_pos": 624, "sequence_org": "GGV", "sequence_mut": "AAL", "comment": "Does not affect the targeting to mitochondrial outer membrane.", "evidence": [ { "database": "UniProtKB", "id": "O95140", "url": "https://www.uniprot.org/uniprot/O95140" }, { "database": "PubMed", "id": "11181170", "url": "https://glygen.org/publication/PubMed/11181170" } ] }, { "start_pos": 622, "end_pos": 624, "sequence_org": "GGV", "sequence_mut": "RRE", "comment": "Abolishes the targeting to mitochondrial outer membrane.", "evidence": [ { "database": "UniProtKB", "id": "O95140", "url": "https://www.uniprot.org/uniprot/O95140" }, { "database": "PubMed", "id": "11181170", "url": "https://glygen.org/publication/PubMed/11181170" } ] }, { "start_pos": 657, "end_pos": 659, "sequence_org": "KER", "sequence_mut": "TGV", "comment": "Does not affect the targeting to mitochondrial outer membrane.", "evidence": [ { "database": "UniProtKB", "id": "O95140", "url": "https://www.uniprot.org/uniprot/O95140" }, { "database": "PubMed", "id": "11181170", "url": "https://glygen.org/publication/PubMed/11181170" } ] } ], "expression_tissue": [ { "tissue": { "name": "Adult mammalian kidney", "namespace": "UBERON", "id": "0000082", "url": "http://purl.obolibrary.org/obo/UBERON_0000082" }, "score": "91.64", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000116688", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000116688" } ] }, { "tissue": { "name": "Oral cavity", "namespace": "UBERON", "id": "0000167", "url": "http://purl.obolibrary.org/obo/UBERON_0000167" }, "score": "89.03", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000116688", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000116688" } ] }, { "tissue": { "name": "Stomach", "namespace": "UBERON", "id": "0000945", "url": "http://purl.obolibrary.org/obo/UBERON_0000945" }, "score": "95.28", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000116688", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000116688" } ] }, { "tissue": { "name": "Uterus", "namespace": "UBERON", "id": "0000995", "url": "http://purl.obolibrary.org/obo/UBERON_0000995" }, "score": "92.86", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000116688", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000116688" } ] }, { "tissue": { "name": "Esophagus", "namespace": "UBERON", "id": "0001043", "url": "http://purl.obolibrary.org/obo/UBERON_0001043" }, "score": "95.63", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000116688", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000116688" } ] }, { "tissue": { "name": "Rectum", "namespace": "UBERON", "id": "0001052", "url": "http://purl.obolibrary.org/obo/UBERON_0001052" }, "score": "94.36", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000116688", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000116688" } ] }, { "tissue": { "name": "Colon", "namespace": "UBERON", "id": "0001155", "url": "http://purl.obolibrary.org/obo/UBERON_0001155" }, "score": "92.85", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000116688", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000116688" } ] }, { "tissue": { "name": "Urinary bladder", "namespace": "UBERON", "id": "0001255", "url": "http://purl.obolibrary.org/obo/UBERON_0001255" }, "score": "91.52", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000116688", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000116688" } ] }, { "tissue": { "name": "Thyroid gland", "namespace": "UBERON", "id": "0002046", "url": "http://purl.obolibrary.org/obo/UBERON_0002046" }, "score": "93.77", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000116688", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000116688" } ] }, { "tissue": { "name": "Lung", "namespace": "UBERON", "id": "0002048", "url": "http://purl.obolibrary.org/obo/UBERON_0002048" }, "score": "90.23", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000116688", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000116688" } ] }, { "tissue": { "name": "Liver", "namespace": "UBERON", "id": "0002107", "url": "http://purl.obolibrary.org/obo/UBERON_0002107" }, "score": "92.98", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000116688", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000116688" } ] }, { "tissue": { "name": "Prostate gland", "namespace": "UBERON", "id": "0002367", "url": "http://purl.obolibrary.org/obo/UBERON_0002367" }, "score": "92.74", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000116688", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000116688" } ] }, { "tissue": { "name": "Thoracic mammary gland", "namespace": "UBERON", "id": "0005200", "url": "http://purl.obolibrary.org/obo/UBERON_0005200" }, "score": "91.5", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000116688", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000116688" } ] } ], "expression_disease": [ { "significant": "Yes", "trend": "down", "name": "Prostate cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:10283", "evidence": [ { "database": "BioXpress", "id": "O95140", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O95140" } ], "disease": [ { "disease_id": "DOID:10283", "recommended_name": { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "prostate cancer", "description": "A male reproductive organ cancer that is located_in the prostate." }, "synonyms": [ { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "NGP - new growth of prostate", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "hereditary prostate cancer", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "malignant tumor of the prostate", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "prostate cancer, familial", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "prostate neoplasm", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "prostatic cancer", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "prostatic neoplasm", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "tumor of the prostate", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "prostate cancer, hereditary, 9", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "prostate cancer, hereditary, 9", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "prostate cancer, hereditary, type 9", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "HPC9", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "prostate cancer, hereditary, 12", "description": "Any familial prostate cancer in which the cause of the disease is a mutation in the EHBP1 gene." }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "EHBP1 familial prostate cancer", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "familial prostate cancer caused by mutation in EHBP1", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "prostate cancer, hereditary, 12", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "prostate cancer, hereditary, type 12", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "HPC12", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "prostate cancer, hereditary, 5", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "prostate cancer, hereditary, 5", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "prostate cancer, hereditary, type 5", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "HPC5", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, hereditary, 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, hereditary, 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, hereditary, type 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, susceptibility to, 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "HPC3", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, hereditary, 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, hereditary, 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, hereditary, type 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, susceptibility to, 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "HPC4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, hereditary, on chromosome 7", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "prostate cancer, hereditary, 13", "description": "Any familial prostate cancer in which the cause of the disease is a mutation in the MSMB gene." }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "MSMB familial prostate cancer", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "familial prostate cancer caused by mutation in MSMB", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "prostate cancer, hereditary, 13", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "prostate cancer, hereditary, type 13", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "HPC13", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, hereditary, 8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, hereditary, 8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, hereditary, type 8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "HPC8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "predisposing for prostate cancer", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, susceptibility to", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, hereditary, 6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, hereditary, 6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, hereditary, type 6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "HPC6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, susceptibility to", "description": "" }, { "id": "MONDO:0012620", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012620", "name": "prostate cancer, hereditary, 10", "description": "" }, { "id": "MONDO:0012620", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012620", "name": "HPC10", "description": "" }, { "id": "MONDO:0012620", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012620", "name": "prostate cancer, hereditary, 10", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "familial prostate carcinoma", "description": "Prostate carcinoma that has developed in relatives of patients with a history of prostate carcinoma." }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "familial prostate cancer", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "hereditary prostate cancer", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "hereditary prostate carcinoma", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, familial, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, somatic", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, 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"https://monarchinitiative.org/disease/MONDO:0012470", "name": "prostate cancer aggressiveness", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer, hereditary, 1", "description": "Any familial prostate cancer in which the cause of the disease is a mutation in the RNASEL gene." }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "RNASEL familial prostate cancer", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "familial prostate cancer caused by mutation in RNASEL", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer 1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer, hereditary, 1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer, hereditary, type 1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "HPC1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "Prca1", "description": "" }, { "id": "MONDO:0012768", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012768", "name": "prostate cancer, hereditary, 11", "description": "" }, { "id": "MONDO:0012768", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012768", "name": "HPC11", "description": "" }, { "id": "MONDO:0012768", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012768", "name": "prostate cancer, hereditary, 11", "description": "" }, { "id": "MONDO:0012769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012769", "name": "prostate cancer, hereditary, 14", "description": "" }, { "id": "MONDO:0012769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012769", "name": "HPC14", "description": "" }, { "id": "MONDO:0012769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012769", "name": "prostate cancer, hereditary, 14", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "prostate cancer, hereditary, 15", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "HPC15", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "prostate cancer, hereditary, 15", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "prostate cancer, hereditary, X-linked 1", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "HPCX1", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "prostate cancer, hereditary, X-linked 1", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "prostate cancer susceptibility, X-linked", "description": "" }, { "id": "MONDO:0010405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010405", "name": "prostate cancer, hereditary, X-linked 2", "description": "" }, { "id": "MONDO:0010405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010405", "name": "HPCX2", "description": "" }, { "id": "MONDO:0010405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010405", "name": "prostate cancer, hereditary, X-linked 2", "description": "" }, { "id": "MIM:611868", "resource": "MIM", "url": "https://www.omim.org/entry/611868", "name": "Prostate cancer, hereditary, 12", "description": "Prostate cancer, hereditary, 12" }, { "id": "MIM:611928", "resource": "MIM", "url": "https://www.omim.org/entry/611928", "name": "Prostate cancer, hereditary, 13", "description": "Prostate cancer, hereditary, 13" }, { "id": "MIM:176807", "resource": "MIM", "url": "https://www.omim.org/entry/176807", "name": "Prostate cancer", "description": "Prostate cancer" }, { "id": "MIM:601518", "resource": "MIM", "url": "https://www.omim.org/entry/601518", "name": "Prostate cancer, hereditary, 1", "description": "Prostate cancer, hereditary, 1" }, { "id": "MIM:611955", "resource": "MIM", "url": "https://www.omim.org/entry/611955", "name": "Prostate cancer, hereditary, 11", "description": "Prostate cancer, hereditary, 11" } ] } ] }, { "significant": "Yes", "trend": "down", "name": "Stomach cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:10534", "evidence": [ { "database": "BioXpress", "id": "O95140", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O95140" } ], "disease": [ { "disease_id": "DOID:10534", "recommended_name": { "id": "DOID:10534", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10534", "name": "stomach cancer", "description": "A gastrointestinal system cancer that is located_in the stomach." }, "synonyms": [ { "id": "DOID:10534", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10534", "name": "gastric cancer", "description": "" }, { "id": "DOID:10534", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10534", "name": "gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer", "description": "A primary or metastatic malignant neoplasm involving the stomach." }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "Ca lesser curvature - stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "cancer of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer risk after h. pylori infection", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer, somatic", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric tumor", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric tumour", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant stomach neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of greater curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of greater curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "stomach cancer", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "Ca body - stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "ca greater curvature of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer, intestinal", "description": "" }, { "id": "MIM:613659", "resource": "MIM", "url": "https://www.omim.org/entry/613659", "name": "Gastric cancer", "description": "Gastric cancer" } ] } ] }, { "significant": "Yes", "trend": "down", "name": "Urinary bladder cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:11054", "evidence": [ { "database": "BioXpress", "id": "O95140", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O95140" } ], "disease": [ { "disease_id": "DOID:11054", "recommended_name": { "id": "DOID:11054", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11054", "name": "urinary bladder cancer", "description": "An urinary system cancer that results_in malignant growth located_in the urinary bladder." }, "synonyms": [ { "id": "DOID:11054", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11054", "name": "bladder cancer", "description": "" }, { "id": "DOID:11054", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11054", "name": "tumor of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder cancer", "description": "A primary or metastatic malignant neoplasm involving the bladder." }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "tumor of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "tumour of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "bladder cancer, somatic", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "cancer of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant bladder neoplasm", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant bladder tumor", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant bladder tumour", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of the urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm, bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm, urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of the urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor, urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumour of bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumour of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumour of the urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumour of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant urinary bladder neoplasm", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant urinary bladder tumor", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant urinary bladder tumour", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder cancer", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": 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This region includes the nasal cavity, sinuses, lips, mouth, salivary glands, throat, or larynx." }, "synonyms": [ { "id": "DOID:11934", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11934", "name": "head and neck neoplasm", "description": "" }, { "id": "DOID:11934", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11934", "name": "head and neck tumours", "description": "" }, { "id": "DOID:11934", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11934", "name": "head/neck neoplasm", "description": "" }, { "id": "DOID:11934", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11934", "name": "tumor of head and neck", "description": "" } ] } ] }, { "significant": "No", "trend": "down", "name": "Lung cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:1324", "evidence": [ { "database": "BioXpress", "id": "O95140", "url": 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"database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A0A6Q8PGA3-1", "url": "https://www.uniprot.org/uniprot/A0A6Q8PGA3-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A0A6Q8PGR2", "url": "https://www.uniprot.org/uniprot/A0A6Q8PGR2", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A0A6Q8PGR2-1", "url": "https://www.uniprot.org/uniprot/A0A6Q8PGR2-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A0A6Q8PGS9", "url": "https://www.uniprot.org/uniprot/A0A6Q8PGS9", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A0A6Q8PGS9-1", "url": "https://www.uniprot.org/uniprot/A0A6Q8PGS9-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A0A6Q8PGV8", "url": "https://www.uniprot.org/uniprot/A0A6Q8PGV8", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A0A6Q8PGV8-1", "url": "https://www.uniprot.org/uniprot/A0A6Q8PGV8-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A0A6Q8PH07", "url": "https://www.uniprot.org/uniprot/A0A6Q8PH07", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A0A6Q8PH07-1", "url": "https://www.uniprot.org/uniprot/A0A6Q8PH07-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "O95140", "url": "https://www.uniprot.org/uniprot/O95140", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "O95140-1", "url": "https://www.uniprot.org/uniprot/O95140-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "O95140-2", "url": "https://www.uniprot.org/uniprot/O95140-2", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "Q5JXC5", "url": "https://www.uniprot.org/uniprot/Q5JXC5", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "Q5JXC5-1", "url": "https://www.uniprot.org/uniprot/Q5JXC5-1", "database": "UniProtKB", "categories": [ "Protein" ] } ], "sequence": { "sequence": "MSLLFSRCNSIVTVKKNKRHMAEVNASPLKHFVTAKKKINGIFEQLGAYIQESATFLEDTYRNAELDPVTTEEQVLDVKGYLSKVRGISEVLARRHMKVAFFGRTSNGKSTVINAMLWDKVLPSGIGHTTNCFLRVEGTDGHEAFLLTEGSEEKRSAKTVNQLAHALHQDKQLHAGSLVSVMWPNSKCPLLKDDLVLMDSPGIDVTTELDSWIDKFCLDADVFVLVANSESTLMQTEKHFFHKVSERLSRPNIFILNNRWDASASEPEYMEEVRRQHMERCTSFLVDELGVVDRSQAGDRIFFVSAKEVLNARIQKAQGMPEGGGALAEGFQVRMFEFQNFERRFEECISQSAVKTKFEQHTVRAKQIAEAVRLIMDSLHMAAREQQVYCEEMREERQDRLKFIDKQLELLAQDYKLRIKQITEEVERQVSTAMAEEIRRLSVLVDDYQMDFHPSPVVLKVYKNELHRHIEEGLGRNMSDRCSTAITNSLQTMQQDMIDGLKPLLPVSVRSQIDMLVPRQCFSLNYDLNCDKLCADFQEDIEFHFSLGWTMLVNRFLGPKNSRRALMGYNDQVQRPIPLTPANPSMPPLPQGSLTQEEFMVSMVTGLASLTSRTSMGILVVGGVVWKAVGWRLIALSFGLYGLLYVYERLTWTTKAKERAFKRQFVEHASEKLQLVISYTGSNCSHQVQQELSGTFAHLCQQVDVTRENLEQEIAAMNKKIEVLDSLQSKAKLLRNKAGWLDSELNMFTHQYLQPSR", "length": 757, "header": "sp|O95140-1|MFN2_HUMAN Isoform 1 of Mitofusin-2 OS=Homo sapiens OX=9606 GN=MFN2 PE=1 SV=3 CANONICAL=O95140-1" }, "isoforms": [ { "isoform_ac": "A0A6Q8PFJ4-1", "url": "", "sequence": { "sequence": "MSLLFSRCNSIVTVKKNKRHMAEVNASPLKHFVTAKKKINGIFEQLGAYIQESATFLEDTYRNAELDPVTTEEQVLDVKGYLSKVRGISEVLARRHMKVAFFGRTSNGKSTVINAMLWDKVLPSGIGHTTNCFLRVEGTDGHEAFLLTEGSEEKRSAKTVNQLAHALHQDKQLHAGSLVSVMWPNSKCPLLKDDLVLMDSPGIDVTTELDSWIDKFCLDADVFVLVANSESTLMQTEKHFFHKVSERLSRPNIFILNNRWDASASEPEYMEEVRRQHMERCTSFLVDELGVVDRSQAGDRIFFVSAKEVLNARIQKAQGMPEGGGALAEGFQVRMFEFQNFERRFEECISQSAVKTKFEQHTVRAKQIAEAVRLIMDSLHMAAREQQVYCEEMREERQDRLKFIDKQLELLAQDYKLRIKQITEEVERQVSTAMAEEIRRLSVLVDDYQMDFHPSPVVLKVYKNELHRHIEEGLGRNMSDRCSTAITNSLQTMQQDMIDGLKPLLPVSVRSQIDMLVPRQCFSLNYDLNCDKLCADFQEDIEFHFSLGWTMLVNRFLGPKNSRRALMGYNDQVQRPIPLTPANPSMPPLPQGSLTQEEFMVSMVTGLASLTSRTSMGILVVGGVVWKAVGWRLIALSFGLYGLLYVYERLTWTTKAKERAFKRQFVEHASEKLQLVISYTGSNCSHQVQQELSGTFAHLCQQVDVTRENLEQEIAAMNKKIEVLDSLQSKAKLLRFPGYTLGASPSSPRSHVLHQICHLLSSKSVDPAQFPHLHHNHQPGSRFLFLPCPRLSSPSCGCFKAAAKDFLR", "length": 808, "header": "tr|A0A6Q8PFJ4-1|A0A6Q8PFJ4_HUMAN Computationally mapped isoform of Mitofusin 2 OS=Homo sapiens OX=9606 GN=MFN2 PE=1 SV=1 CANONICAL=O95140-1" }, "locus": { "chromosome": "1", "start_pos": 12014476, "end_pos": 11989169, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000675298.1", "url": "https://www.ensembl.org/id/ENST00000675298.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000501839.1", "url": "https://www.ensembl.org/id/ENSP00000501839.1" } ] } }, { "isoform_ac": "A0A6Q8PFT5-1", "url": "", "sequence": { "sequence": "MSLLFSRCNSIVTVKKNKRHMAEVNASPLKHFVTAKKKINGIFEQLGAYIQESATFLEDTYRNAELDPVTT", "length": 71, "header": "tr|A0A6Q8PFT5-1|A0A6Q8PFT5_HUMAN Computationally mapped isoform of Mitofusin 2 OS=Homo sapiens OX=9606 GN=MFN2 PE=1 SV=1 CANONICAL=O95140-1" }, "locus": { "chromosome": "1", "start_pos": 11992592, "end_pos": 11989169, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000675781.1", "url": "https://www.ensembl.org/id/ENST00000675781.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000501947.1", "url": "https://www.ensembl.org/id/ENSP00000501947.1" } ] } }, { "isoform_ac": "A0A6Q8PGA3-1", "url": "", "sequence": { "sequence": "MSLLFSRCNSIVTVKKNKRHMAEVNASPLKHFVTAKKKINGIFEQLGAYIQESATFLEDTYRNAELDPVTTEEQVLDVKGYLSKVRGISEVLARRHMKVAFFGRTSNGKSTVINAMLWDKVLPSGIGHTTNCFLRVEGTDGHEAFLLTEGSEEKRSAKTVNQLAHALHQDKQLHAGSLVSVMWPNSKCPLLKDDLVLMDSPGIDVTTELDSWIDKFCLDADVFVLVANSESTLMQTEKHFFHKVSERLSRPNIFILNNRWDASASEPEYMEEVRRQHMERCTSFLVDELGVVDRSQAGDRIFFVSAKEVLNARIQKAQGMPEGGGALAEGFQVRMFEFQNFERRFEECISQSAVKTKFEQHTVRAKQIAEAVRLIMDSLHMAAREQQVYCEEMREERQDRLKFIDKQLELLAQDYKLRIKQITEEVERQVSTAMAEEIRRLSVLVDDYQMDFHPSPVVLKVYKNELHRHIEEGLGRNMSDRCSTAITNSLQTMQQDMIDGLKPLLPVSVRSQIDMLVPRQCFSLNYDLNCDKLCADFQEDIEFHFSLGWTMLVNRFLGPKNSRRALMGYNDQVQRPIPLTPANPSMPPLPQGSLTQEEFMVSMVTGLASLTSRTSMGILVVGGVVWKAVGWRLIALSFGLYGLLYVYERLTWTTKAKERAFKRQFVEHASEKLQLVISYTGSNCSHQVQQ", "length": 690, "header": "tr|A0A6Q8PGA3-1|A0A6Q8PGA3_HUMAN Computationally mapped isoform of Mitofusin 2 OS=Homo sapiens OX=9606 GN=MFN2 PE=1 SV=1 CANONICAL=O95140-1" }, "locus": { "chromosome": "1", "start_pos": 12007250, "end_pos": 11989169, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000675987.1", "url": "https://www.ensembl.org/id/ENST00000675987.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000502145.1", "url": "https://www.ensembl.org/id/ENSP00000502145.1" } ] } }, { "isoform_ac": "A0A6Q8PGR2-1", "url": "", "sequence": { "sequence": "MSLLFSRCNSIVTVKKNKRHMAEVNASPLKHFVTAKKKINGIFEQLGAYIQESATFLEDTYRNAELDPVTTEEQVLDVKGYLSKVRGISEVLARRHMKVAFFGRTSNGKSTVINAMLWDKVLPSGIGHTTNCFLRVEGTDGHEAFLLTEGSEEKRSAKTVNQLAHALHQDKQLHAGSLVSVMWPNSKCPLLKDDLVLMDRCGGSTWSVVPASWWMSWAWWIDPRPGTASSLCLLRRCSTPGFRKPRACLKEKAFK", "length": 255, "header": "tr|A0A6Q8PGR2-1|A0A6Q8PGR2_HUMAN Computationally mapped isoform of Mitofusin 2 OS=Homo sapiens OX=9606 GN=MFN2 PE=1 SV=1 CANONICAL=O95140-1" }, "locus": { "chromosome": "1", "start_pos": 12001795, "end_pos": 11989169, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000676426.1", "url": "https://www.ensembl.org/id/ENST00000676426.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000502359.1", "url": "https://www.ensembl.org/id/ENSP00000502359.1" } ] } }, { "isoform_ac": "A0A6Q8PGS9-1", "url": "", "sequence": { "sequence": "MLWDKVLPSGIGHTTNCFLRVEGTDGHEAFLLTEGSEEKRSAKTVNQLAHALHQDKQLHAGSLVSVMWPNSKCPLLKDDLVLMDSPGIDVTTELDSWIDKFCLDADVFVLVANSESTLMQTEKHFFHKVSERLSRPNIFILNNRWDASASEPEYMEEVRRQHMERCTSFLVDELGVVDRSQAGDRIFFVSAKEVLNARIQKAQGMPEGGGALAEGFQVRMFEFQNFERRFEECISQSAVKTKFEQHTVRAKQIAEAVRLIMDSLHMAAREQQVYCEEMREERQDRLKFIDKQLELLAQDYKLRIKQITEEVERQVSTAMAEEIRRLSVLVDDYQMDFHPSPVVLKVYKNELHRHIEEGLGRNMSDRCSTAITNSLQTMQQDMIDGLKPLLPVSVRSQIDMLVPRQCFSLNYDLNCDKLCADFQEDIEFHFSLGWTMLVNRFLGPKNSRRALMGYNDQVQRPIPLTPANPSMPPLPQGSLTQEEFMVSMVTGLASLTSRTSMGILVVGGVVWKAVGWRLIALSFGLYGLLYVYERLTWTTKAKERAFKRQFVEHASEKLQLVISYTGSNCSHQVQQELSGTFAHLCQQVDVTRENLEQEIAAMNKKIEVLDSLQSKAKLLRNKAGWLDSELNMFTHQYLQPSR", "length": 642, "header": "tr|A0A6Q8PGS9-1|A0A6Q8PGS9_HUMAN Computationally mapped isoform of Mitofusin 2 OS=Homo sapiens OX=9606 GN=MFN2 PE=1 SV=1 CANONICAL=O95140-1" }, "locus": { "chromosome": "1", "start_pos": 12011562, "end_pos": 11996190, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000674658.1", "url": "https://www.ensembl.org/id/ENST00000674658.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000502334.1", "url": "https://www.ensembl.org/id/ENSP00000502334.1" } ] } }, { "isoform_ac": "A0A6Q8PGV8-1", "url": "", "sequence": { "sequence": "MSLLFSRCNSIVTVKKNKRHMAEVNASPLKHFVTAKKKINGIFEQLGAYIQESATFLEDTYRNAELDPVTTEEQVLDVKGYLSKVRGISEVLARRHMKVAFFGRTSNGKSTVINAMLWDKVLPSGIGHTTNCFLRVEGTDGHEAFLLTEGSEEKRSAKTVNQLAHALHQDKQLHAGSLVSVMWPNSKCPLLKDDLVLMDSPGIDVTTELDSWIDKFCLDADVFVLVANSESTLMQTEKHFFHKVSERLSRPNIFILNNRWDASASEPEYMEEVRRQHMERCTSFLVDELGVVDRSQAGDRIFFVSAKEVLNARIQKAQGMPEGGGALAEGFQVRMFEFQNFERRFEECISQSAVKTKFEQHTVRAKQIAEAVRLIMDSLHMAAREQHALPVLCPPPDPHRRLKSAWLAAGSSSYLGRGRPCPWVRVCSPARVYCEEMREERQDRLKFIDKQLELLAQDYKLRIKQITEEVERQVSTAMAEEIRRLSVLVDDYQMDFHPSPVVLKVYKNELHRHIEEGLGRNMSDRCSTAITNSLQTMQQDMIDGLKPLLPVSVRSQIDMLVPRQCFSLNYDLNCDKLCADFQEDIEFHFSLGWTMLVNRFLGPKNSRRALMGYNDQVQRPIPLTPANPSMPPLPQGSLTQEEFMVSMVTGLASLTSRTSMGILVVGGVVWKAVGWRLIALSFGLYGLLYVYERLTWTTKAKERAFKRQFVEHASEKLQLVISYTGSNCSHQVQQELSGTFAHLCQQVDVTRENLEQEIAAMNKKIEVLDSLQSKAKLLRNKAGWLDSELNMFTHQYLQPSR", "length": 801, "header": "tr|A0A6Q8PGV8-1|A0A6Q8PGV8_HUMAN Computationally mapped isoform of Mitofusin 2 OS=Homo sapiens OX=9606 GN=MFN2 PE=1 SV=1 CANONICAL=O95140-1" }, "locus": { "chromosome": "1", "start_pos": 12011562, "end_pos": 11989169, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000675817.1", "url": "https://www.ensembl.org/id/ENST00000675817.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000502422.1", "url": "https://www.ensembl.org/id/ENSP00000502422.1" } ] } }, { "isoform_ac": "A0A6Q8PH07-1", "url": "", "sequence": { "sequence": "MSLLFSRCNSIVTVKKNKRHMAEVNASPLKHFVTAKKKINGIFEQLGAYIQESATFLEGN", "length": 60, "header": "tr|A0A6Q8PH07-1|A0A6Q8PH07_HUMAN Computationally mapped isoform of Mitofusin 2 OS=Homo sapiens OX=9606 GN=MFN2 PE=1 SV=1 CANONICAL=O95140-1" }, "locus": { "chromosome": "1", "start_pos": 11992283, "end_pos": 11989169, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000497302.1", "url": "https://www.ensembl.org/id/ENST00000497302.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000502511.1", "url": "https://www.ensembl.org/id/ENSP00000502511.1" } ] } }, { "isoform_ac": "O95140-1", "url": "", "sequence": { "sequence": "MSLLFSRCNSIVTVKKNKRHMAEVNASPLKHFVTAKKKINGIFEQLGAYIQESATFLEDTYRNAELDPVTTEEQVLDVKGYLSKVRGISEVLARRHMKVAFFGRTSNGKSTVINAMLWDKVLPSGIGHTTNCFLRVEGTDGHEAFLLTEGSEEKRSAKTVNQLAHALHQDKQLHAGSLVSVMWPNSKCPLLKDDLVLMDSPGIDVTTELDSWIDKFCLDADVFVLVANSESTLMQTEKHFFHKVSERLSRPNIFILNNRWDASASEPEYMEEVRRQHMERCTSFLVDELGVVDRSQAGDRIFFVSAKEVLNARIQKAQGMPEGGGALAEGFQVRMFEFQNFERRFEECISQSAVKTKFEQHTVRAKQIAEAVRLIMDSLHMAAREQQVYCEEMREERQDRLKFIDKQLELLAQDYKLRIKQITEEVERQVSTAMAEEIRRLSVLVDDYQMDFHPSPVVLKVYKNELHRHIEEGLGRNMSDRCSTAITNSLQTMQQDMIDGLKPLLPVSVRSQIDMLVPRQCFSLNYDLNCDKLCADFQEDIEFHFSLGWTMLVNRFLGPKNSRRALMGYNDQVQRPIPLTPANPSMPPLPQGSLTQEEFMVSMVTGLASLTSRTSMGILVVGGVVWKAVGWRLIALSFGLYGLLYVYERLTWTTKAKERAFKRQFVEHASEKLQLVISYTGSNCSHQVQQELSGTFAHLCQQVDVTRENLEQEIAAMNKKIEVLDSLQSKAKLLRNKAGWLDSELNMFTHQYLQPSR", "length": 757, "header": "sp|O95140-1|MFN2_HUMAN Isoform 1 of Mitofusin-2 OS=Homo sapiens OX=9606 GN=MFN2 PE=1 SV=3 CANONICAL=O95140-1" }, "locus": { "chromosome": "1", "start_pos": 12011562, "end_pos": 11989169, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000235329.10", "url": "https://www.ensembl.org/id/ENST00000235329.10" }, { "database": "Ensembl Peptide", "id": "ENSP00000235329.5", "url": "https://www.ensembl.org/id/ENSP00000235329.5" } ] } }, { "isoform_ac": "O95140-2", "url": "", "sequence": { "sequence": "MHPHLSTLSLPRRRSMAFLSSWGALAEGFQVRMFEFQNFERRFEECISQSAVKTKFEQHTVRAKQIAEAVRLIMDSLHMAAREQQVYCEEMREERQDRLKFIDKQLELLAQDYKLRIKQITEEVERQVSTAMAEEIRRLSVLVDDYQMDFHPSPVVLKVYKNELHRHIEEGLGRNMSDRCSTAITNSLQTMQQDMIDGLKPLLPVSVRSQIDMLVPRQCFSLNYDLNCDKLCADFQEDIEFHFSLGWTMLVNRFLGPKNSRRALMGYNDQVQRPIPLTPANPSMPPLPQGSLTQEEFMVSMVTGLASLTSRTSMGILVVGGVVWKAVGWRLIALSFGLYGLLYVYERLTWTTKAKERAFKRQFVEHASEKLQLVISYTGSNCSHQVQQELSGTFAHLCQQVDGETLSERSMAKSTLMLLTLLFLCSFAGAQDVLTQ", "length": 436, "header": "sp|O95140-2|MFN2_HUMAN Isoform 2 of Mitofusin-2 OS=Homo sapiens OX=9606 GN=MFN2 PE=1 SV=3 CANONICAL=O95140-1" }, "locus": {} }, { "isoform_ac": "Q5JXC5-1", "url": "", "sequence": { "sequence": "MSLLFSRCNSIVTVKKNKRHMAEVNASPLKHFVTAKKKINGIFEQLGAYIQESATFLEDTYRNAELDPVTTEEQVLDVKGYLSKVRGISEVLARRHMK", "length": 98, "header": "tr|Q5JXC5-1|Q5JXC5_HUMAN Computationally mapped isoform of Mitofusin 2 OS=Homo sapiens OX=9606 GN=MFN2 PE=1 SV=1 CANONICAL=O95140-1" }, "locus": { "chromosome": "1", "start_pos": 11992673, "end_pos": 11989169, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000675530.1", "url": "https://www.ensembl.org/id/ENST00000675530.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000501972.1", "url": "https://www.ensembl.org/id/ENSP00000501972.1" } ] } } ], "glycosylation": [], "phosphorylation": [ { "start_pos": 111, "end_pos": 111, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Thr", "comment": "Phosphothreonine; by PINK1", "evidence": [ { "database": "UniProtKB", "id": "O95140", "url": "https://www.uniprot.org/uniprot/O95140" }, { "database": "iPTMnet", "id": "O95140", "url": 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Yie J, Thanos D, Aggarwal AK", "evidence": [ { "database": "Reactome", "id": "R-HSA-983231", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-983231" } ], "reference": [ { "type": "PubMed", "id": "9422515", "url": "https://glygen.org/publication/PubMed/9422515" } ] }, { "title": "FOG-2: A novel GATA-family cofactor related to multitype zinc-finger proteins Friend of GATA-1 and U-shaped.", "journal": "Proceedings of the National Academy of Sciences of the United States of America", "date": "1999", "authors": "Tevosian SG, Deconinck AE, Cantor AB, Rieff HI, Fujiwara Y, Corfas G, Orkin SH", "evidence": [ { "database": "Reactome", "id": "R-HSA-983231", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-983231" } ], "reference": [ { "type": "PubMed", "id": "9927674", "url": "https://glygen.org/publication/PubMed/9927674" } ] } ], "pathway": [ { "id": "hsa:9927", "name": "", "url": "https://www.genome.jp/dbget-bin/get_linkdb?-t+pathway+hsa:9927", "resource": "KEGG Pathway" }, { 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"https://www.uniprot.org/uniprot/O95140" } ], "pmid": "" }, { "name": "protein targeting to mitochondrion", "id": "GO:0006626", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006626", "evidence": [ { "database": "UniProtKB", "id": "O95140", "url": "https://www.uniprot.org/uniprot/O95140" } ], "pmid": "" }, { "name": "positive regulation of vascular associated smooth muscle cell proliferation", "id": "GO:1904707", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1904707", "evidence": [ { "database": "UniProtKB", "id": "O95140", "url": "https://www.uniprot.org/uniprot/O95140" } ], "pmid": "" }, { "name": "protein localization to phagophore assembly site", "id": "GO:0034497", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0034497", "evidence": [ { "database": "UniProtKB", "id": "O95140", "url": "https://www.uniprot.org/uniprot/O95140" } ], "pmid": "" }, { "name": "negative regulation of smooth muscle cell proliferation", "id": "GO:0048662", "url": 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fusion (PubMed:23620051). Ubiquitinated by HUWE1 when dietary stearate (C18:0) levels are low; ubiquitination inhibits mitochondrial fusion (PubMed:26214738, PubMed:30217973).", "evidence": [ { "database": "UniProtKB", "id": "O95140", "url": "https://www.uniprot.org/uniprot/O95140" }, { "database": "PubMed", "id": "23620051", "url": "https://glygen.org/publication/PubMed/23620051" }, { "database": "PubMed", "id": "30217973", "url": "https://glygen.org/publication/PubMed/30217973" }, { "database": "PubMed", "id": "26214738", "url": "https://glygen.org/publication/PubMed/26214738" } ] } ], "interactions": [], "reactions": [ { "id": "19669", "name": "", "equation": "GTP + H2O = GDP + H(+) + phosphate", "summary": "", "cellular_location": "", "input_participant_list": [], "output_participant_list": [], "enzyme_list": [ "Q08877-1", "Q6AYC2-1", "Q2TA68-1", "P61589-1", "Q6RUV5-1", "P23640-1", "O35303-1", "P21575-1", "P39052-1", "Q6AYF9-1", "Q8CFN2-1", "Q63663-1", "M0RC99-1", "Q99P74-1", "B2GUV7-1", "Q8R4Z9-1", 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"P51149-1", "Q9Y227-1", "P62820-1", "Q9NQZ7-1", "P20338-1", "P62491-1", "Q15907-1", "Q92928-1", "P61020-1", "Q9NVJ2-1", "A6NIZ1-1", "P61224-1", "A1A4Y4-1", "P61011-1", "P62834-1", "P11234-1", "Q2VIR3-1", "P41091-1", "P01112-1", "P61225-1", "Q9Y3L5-1", "Q96S79-1", "Q9NQL2-1", "Q9HB90-1", "Q9H628-1", "O14807-1", "P01116-1", "P60763-1", "P11233-1", "P01111-1", "Q99578-1", "Q96A58-1", "Q92737-1", "Q9BPW5-1", "Q7Z444-1", "P10114-1", "Q5VZM2-1", "P10301-1", "P62070-1", "Q6T310-1", "P61026-1", "Q92963-1", "Q7L523-1", "Q9NYN1-1", "P62826-1", "P62330-1", "Q8N8V2-1", "Q9NRW1-1", "Q6ZN66-1", "Q8WUD1-1", "P61006-1", "P61019-1", "Q9BSD7-1", "Q9NY65-1", "Q9H853-1", "P68366-1", "Q4V339-1", "Q8IUF1-1", "Q71U36-1", "Q9BQE3-1", "P68363-1", "Q5RIA9-1", "Q9BRT8-1", "A6NHL2-1", "Q5JTY5-1", "P84077-1", "Q6PEY2-1", "P13639-1", "P15170-1", "P0DPH7-1", "P0DPH8-1", "Q969S9-1", "Q15382-1", "P49961-1", "Q8IYD1-1", "P68104-1", "P61221-1", "Q9Y450-1", "P61021-1", "Q62293-1", "Q61107-1", "P60766-2", "Q8BZ98-1", "Q8CFB4-1", "P32233-1", "Q9QXB9-1", "Q01514-1", "Q8K1M6-1", "P39053-1", "P39054-1", "Q8C262-1", "Q5S006-1", "Q8C3X4-1", "Q9Z0E6-1", "Q9QZ85-1", "Q05D44-1", "P58281-1", "Q8C7H1-1", "Q80U63-1", "Q811U4-1", "Q99P58-1", "Q9QUI0-1", "Q9ERI2-1", "P63001-1", "Q3T9E4-1", "Q7TQD2-1", "Q9CQD1-1", "Q9CQW2-1", "P56371-1", "P62821-1", "P62492-1", "Q91ZR1-1", "P35278-1", "P46638-1", "P51150-1", "Q3TCT4-1", "Q9D1G1-1", "P61226-1", "P61027-1", "P62071-1", "Q99JI6-1", "Q8R367-1", "Q922H7-1", "Q8BU31-1", "Q80ZJ1-1", "Q80X95-1", "O08989-1", "P70426-1", "Q8K5A4-1", "P10833-1", "P70425-1", "Q61411-1", "Q5SSG5-1", "Q7TT45-1", "Q6NTA4-1", "Q99K70-1", "Q9JIW9-1", "Q08AT1-1", "P60764-1", "P62835-1", "P63321-1", "Q6IMB1-1", "P32883-1", "Q9Z0N2-1", "Q9Z0N1-1", "P08556-1", "Q7TN89-1", "A4UUI3-1", "Q8VEH6-1", "A0A0G2JDV3-1", "P68368-1", "Q91Z40-1", "Q60766-1", "A0A140LIF8-1", "Q9DCE9-1", "Q3UX10-1", "Q9JJZ2-1", "Q0GUM3-1", "E9PXC0-1", "P62331-1", "Q9CQA9-1", "P53994-1", "P59279-1", "P62827-1", "P68369-1", "P55258-1", "P61294-1", "Q61820-1", "P05214-1", "P84078-1", "Q69ZS7-1", "P05213-1", "P68373-1", "Q149F3-1", "Q8R050-1", "P14576-1", "Q921J2-1", "P55772-1", "Q8R2Q4-1", "B2RVE2-1", "P10126-1", "P61222-1", "P58252-1", "P13856-1", "P20606-1", "P01119-1", "P01120-1", "P05453-1", "P06780-1", "P06781-1", "P09733-1", "P09734-1", "P11076-1", "P19073-1", "P32324-1", "P32481-1", "P32769-1", "P53893-1", "P54861-1", "Q00246-1", "P39730-1", "P46943-1", "P38297-1", "P53729-1", "P20424-1", "P53290-1", "Q00582-1", "Q54Y30-1", "Q54XP6-1", "Q54XD8-1", "Q55CA9-1", "Q55CB0-1", "Q55CB7-1", "Q55CB8-1", "Q55CB9-1", "Q55CC0-1", "Q75K18-1", "Q869Q0-1", "Q86L51-1", "B0G189-1", "O00909-1", "P03967-1", "P0CT31-1", "P15064-1", "P15112-1", "P18613-1", "P32252-1", "P32253-1", "P32254-1", "P32255-1", "P36409-1", "P36411-1", "Q54MH8-1", "Q55AX0-1", "Q55BW0-1", "Q55F94-1", "P08645-1", "P08646-1", "P40793-1", "Q24208-1", "P04388-1", "P27619-1", "Q7YU24-1", "P48555-1", "Q9VRH6-1", "A1Z9N0-1", "O18412-1", "P06604-1", "P06606-1", "P61209-1", "P06603-1", "P06605-1", "Q9W074-1", "O18333-1", "Q9V3I2-1", "Q9VRY2-1", "O76742-1", "P13060-1", "Q9VM20-1" ], "evidence": [ { "id": "19669", "database": "Rhea", "url": "https://www.rhea-db.org/rhea/19669" } ] }, { "id": "R-HSA-5205649", "name": "p62 links damaged mitochondria to LC3", "equation": "", "summary": "p62 links to the microtubule-associated protein Autophagy marker Light Chain 3 (LC3). This begins the recruitment of the autophagy machinery to the damaged mitochondria, targeting it for autophagic degradation.", "cellular_location": "cytosol", "input_participant_list": [], "output_participant_list": [], "enzyme_list": [ "O95140-1", "Q8IWA4-1" ], "evidence": [ { "id": "R-HSA-5205649", "database": "Reactome", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5205649" } ] }, { "id": "R-HSA-5205663", "name": "LC3 binds the autophagosome membrane Atg5-Atg12 complex", "equation": "", "summary": "The mitochondria are engulfed after elongation of the isolation membrane. Once the autophagosome is formed, its outer membrane fuses with lysosomes to form the autolysosome. The lysosomal hydrolases (cathepsins and lipases) ultimately degrade the damaged mitochondria and its associated proteins.", "cellular_location": "phagocytic vesicle", "input_participant_list": [], "output_participant_list": [], "enzyme_list": [ "O95140-1", "Q8IWA4-1" ], "evidence": [ { "id": "R-HSA-5205663", "database": "Reactome", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5205663" } ] }, { "id": "R-HSA-5205673", "name": "p62 binds ubiquitinated mitochondrial substrates", "equation": "", "summary": "After the ubiquitination events, p62 is recruited to mitochondria, binding the Parkin-ubiquitinated substrates", "cellular_location": "cytosol", "input_participant_list": [], "output_participant_list": [], "enzyme_list": [ "O95140-1", "Q8IWA4-1" ], "evidence": [ { "id": "R-HSA-5205673", "database": "Reactome", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5205673" } ] }, { "id": "R-HSA-5205682", "name": "Parkin promotes the ubiquitination of mitochondrial substrates", "equation": "", "summary": "Parkin promotes the ubiquitination of the mitofusin mitochondrial assembly regulatory factor (MARF), mitofusin 1, mitofusin 2 and voltage-dependent anion-selective channel protein 1 (vDAC1), all of which are embedded in the OMM.", "cellular_location": "mitochondrial outer membrane", "input_participant_list": [ "R-HSA-1267988", "R-HSA-5205688", "R-HSA-992714", "R-HSA-992745" ], "output_participant_list": [ "R-HSA-5205624", "R-HSA-5205630", "R-HSA-5205668", "R-HSA-5205679" ], "enzyme_list": [ "O60260-1", "O95140-1", "Q8IWA4-1", "Q9BXM7-1" ], "evidence": [ { "id": "R-HSA-5205682", "database": "Reactome", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5205682" } ] }, { "id": "R-HSA-9018824", "name": "RHOT2 binds effectors at the mitochondrial outer membrane", "equation": "", "summary": "Active GTP-bound RHOT2 interacts with the following effectors:
MFN1 (Nemani et al. 2018)
MFN2 (Nemani et al. 2018)
MYO19 (Oeding et al. 2018; Bocanegra et al. 2020)
TRAK1 (Fransson et al. 2006)
TRAK2 (Fransson et al. 2006)", "cellular_location": "cytosol, mitochondrial outer membrane", "input_participant_list": [], "output_participant_list": [], "enzyme_list": [ "Q8IXI1-1", "O95140-1", "Q8IWA4-1" ], "evidence": [ { "id": "R-HSA-9018824", "database": "Reactome", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9018824" } ] }, { "id": "R-HSA-992703", "name": "Mitofusins trans-interact linking mitochondria prior to fusion", "equation": "", "summary": "Mitochondria frequently fuse and divide (Bereiter-Hahn & Voth 1994); these processes affect morphology and are important for normal mitochondrial functions such as respiration, development and apoptosis. Mitofusins (MFNs) are mitochondrial GTPases that mediate mitochondrial outer membrane fusion. Mammals have two mitofusins; Mfn1-null or Mfn2-null mouse embryonic fibroblast cells show predominantly fragmented mitochondria and have greatly reduced mitochondrial fusion in vivo (Chen et al. 2003, 2005). ; MFNs acts in trans to bring mitochondria into close proximity prior to fusion (Koshiba et al. 2004). They also tether the endoplasmic reticulum (ER) to mitochondria, cross-linking MFNs expressed on the mitochondrial outer membrane and ER membrane (de Brito & Scorrano 2008).", "cellular_location": "mitochondrial outer membrane", "input_participant_list": [], "output_participant_list": [], "enzyme_list": [ "O95140-1", "Q8IWA4-1" ], "evidence": [ { "id": "R-HSA-992703", "database": "Reactome", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-992703" } ] } ], "reaction_participants": [ { "participant_id": "R-HSA-1267988", "participant_name": "VDAC1 [mitochondrial outer membrane]", "crossref": [ { "id": "P21796", "database": "UniProt", "url": "" }, { "id": "2JK4", "database": "PDB", "url": "" }, { "id": "7QI2", "database": "PDB", "url": "" }, { "id": "XP_016865312.1", "database": "RefSeq", "url": "" }, { "id": "2K4T", "database": "PDB", "url": "" }, { "id": "ENSG00000213585-VDAC1", "database": "HPA", "url": "" }, { "id": "ENSG00000213585", "database": "OpenTargets", "url": "" }, { "id": "6TIQ", "database": "PDB", "url": "" }, { "id": "HMDBP02507", "database": "HMDB Protein", "url": "" }, { "id": "XP_016865310.1", "database": "RefSeq", "url": "" }, { "id": "XP_016865311.1", "database": "RefSeq", "url": "" }, { "id": "6TIR", "database": "PDB", "url": "" }, { "id": "P21796", "database": "Pharos - Targets", "url": "" }, { "id": "5XDO", "database": "PDB", "url": "" }, { "id": "26468", "database": "Orphanet", "url": "" }, { "id": "ENSP00000378484", "database": "Ensembl", "url": "" }, { "id": "ENST00000265333", "database": "Ensembl", "url": "" }, { "id": "ENST00000395044", "database": "Ensembl", "url": "" }, { "id": "ENST00000395047", "database": "Ensembl", "url": "" }, { "id": "NP_003365.1", "database": "RefSeq", "url": "" }, { "id": "6G6U", "database": "PDB", "url": "" }, { "id": "ENSP00000265333", "database": "Ensembl", "url": "" }, { "id": "XP_005272132.1", "database": "RefSeq", "url": "" }, { "id": "6G73", "database": "PDB", "url": "" }, { "id": "P21796", "database": "GeneCards", "url": "" }, { "id": "5JDP", "database": "PDB", "url": "" }, { "id": "5XDN", "database": "PDB", "url": "" }, { "id": "ENSG00000213585", "database": "Ensembl", "url": "" }, { "id": "ENSP00000378487", "database": "Ensembl", "url": "" }, { "id": "P21796", "database": "PRO", "url": "" } ] }, { "participant_id": "R-HSA-5205624", "participant_name": "K48polyUb-VDAC1 [mitochondrial outer membrane]", "crossref": [ { "id": "ENST00000395047", "database": "Ensembl", "url": "" }, { "id": "5XDN", "database": "PDB", "url": "" }, { "id": "XP_016865311.1", "database": "RefSeq", "url": "" }, { "id": "7QI2", "database": "PDB", "url": "" }, { "id": "26468", "database": "Orphanet", "url": "" }, { "id": "XP_005272132.1", "database": "RefSeq", "url": "" }, { "id": "ENSG00000213585", "database": "OpenTargets", "url": "" }, { "id": "ENSP00000378487", "database": "Ensembl", "url": "" }, { "id": "ENST00000265333", "database": "Ensembl", "url": "" }, { "id": "HMDBP02507", "database": 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"Opa1", "activity": [ { "ec_number": "3.6.5.5", "activity": "GTP + H2O = GDP + H(+) + phosphate.", "evidence": [ { "id": "P58281", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P58281" } ] }, { "ec_number": "3.6.5.5", "activity": "", "evidence": [ { "id": "P58281", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P58281" } ] } ] }, { "uniprot_ac": "P59279", "gene_name": "Rab2b", "activity": [ { "ec_number": "3.6.5.2", "activity": "GTP + H2O = GDP + H(+) + phosphate.", "evidence": [ { "id": "P59279", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P59279" } ] }, { "ec_number": "3.6.5.2", "activity": "", "evidence": [ { "id": "P59279", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P59279" } ] } ] }, { "uniprot_ac": "P60763", "gene_name": "RAC3", "activity": [ { "ec_number": "3.6.5.2", "activity": "GTP + H2O = GDP + H(+) + phosphate.", "evidence": [ { "id": "P60763", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P60763" } ] }, { "ec_number": "3.6.5.2", "activity": "", "evidence": [ { "id": "P60763", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P60763" } ] } ] }, { "uniprot_ac": "P60764", "gene_name": "Rac3", "activity": [ { "ec_number": "3.6.5.2", "activity": "GTP + H2O = GDP + H(+) + phosphate.", "evidence": [ { "id": "P60764", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P60764" } ] }, { "ec_number": "3.6.5.2", "activity": "", "evidence": [ { "id": "P60764", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P60764" } ] } ] }, { "uniprot_ac": "P60766", "gene_name": "Cdc42", "activity": [ { "ec_number": "3.6.5.2", "activity": "GTP + H2O = GDP + H(+) + phosphate.", "evidence": [ { "id": "P60766", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P60766" } ] }, { "ec_number": "3.6.5.2", "activity": "", "evidence": [ { "id": "P60766", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P60766" } ] } ] }, { "uniprot_ac": "P60953", "gene_name": "CDC42", "activity": [ { "ec_number": "3.6.5.2", "activity": "GTP + H2O = GDP + H(+) + phosphate.", "evidence": [ { "id": "P60953", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P60953" } ] }, { "ec_number": "3.6.5.2", "activity": "", "evidence": [ { "id": "P60953", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P60953" } ] } ] }, { "uniprot_ac": "P61006", "gene_name": "RAB8A", "activity": [ { "ec_number": "3.6.5.2", "activity": "GTP + H2O = GDP + H(+) + phosphate.", "evidence": [ { "id": "P61006", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P61006" } ] }, { "ec_number": "3.6.5.2", "activity": "", "evidence": [ { "id": "P61006", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P61006" } ] } ] }, { "uniprot_ac": "P61011", "gene_name": "SRP54", "activity": [ { "ec_number": "3.6.5.-", "activity": "", "evidence": [ { "id": "P61011", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P61011" } ] }, { "ec_number": "3.6.5.4", "activity": "GTP + H2O = GDP + H(+) + phosphate.", "evidence": [ { "id": "P61011", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P61011" } ] }, { "ec_number": "3.6.5.4", "activity": "", "evidence": [ { "id": "P61011", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P61011" } ] } ] }, { "uniprot_ac": "P61018", "gene_name": "RAB4B", "activity": [ { "ec_number": "3.6.5.2", "activity": "GTP + H2O = GDP + H(+) + phosphate.", "evidence": [ { "id": "P61018", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P61018" } ] }, { "ec_number": "3.6.5.2", "activity": "", "evidence": [ { "id": "P61018", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P61018" } ] } ] }, { "uniprot_ac": "P61019", "gene_name": "RAB2A", "activity": [ { "ec_number": "3.6.5.2", "activity": "GTP + H2O = GDP + H(+) + phosphate.", "evidence": [ { "id": "P61019", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P61019" } ] }, { "ec_number": "3.6.5.2", "activity": "", "evidence": [ { "id": "P61019", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P61019" } ] } ] }, { "uniprot_ac": "P61020", "gene_name": "RAB5B", "activity": [ { "ec_number": "3.6.5.2", "activity": "GTP + H2O = GDP + H(+) + phosphate.", "evidence": [ { "id": "P61020", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P61020" } ] }, { "ec_number": "3.6.5.2", "activity": "", "evidence": [ { "id": "P61020", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P61020" } ] } ] }, { "uniprot_ac": "P61021", "gene_name": "Rab5b", "activity": [ { "ec_number": "3.6.5.2", "activity": "GTP + H2O = GDP + H(+) + phosphate.", "evidence": [ { "id": "P61021", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P61021" } ] }, { "ec_number": "3.6.5.2", "activity": "", "evidence": [ { "id": "P61021", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P61021" } ] } ] }, { "uniprot_ac": "P61026", "gene_name": "RAB10", "activity": [ { "ec_number": "3.6.5.2", "activity": "GTP + H2O = GDP + H(+) + phosphate.", "evidence": [ { "id": "P61026", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P61026" } ] }, { "ec_number": "3.6.5.2", "activity": "", "evidence": [ { "id": "P61026", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P61026" } ] } ] }, { "uniprot_ac": "P61027", "gene_name": "Rab10", "activity": [ { "ec_number": "3.6.5.2", "activity": "GTP + H2O = GDP + H(+) + phosphate.", "evidence": [ { "id": "P61027", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P61027" } ] }, { "ec_number": "3.6.5.2", "activity": "", "evidence": [ { "id": "P61027", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P61027" } ] } ] }, { "uniprot_ac": "P61209", "gene_name": "Arf1", "activity": [ { "ec_number": "3.6.5.2", "activity": "GTP + H2O = GDP + H(+) + phosphate.", "evidence": [ { "id": "P61209", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P61209" } ] }, { "ec_number": "3.6.5.2", "activity": "", "evidence": [ { "id": "P61209", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P61209" } ] } ] }, { "uniprot_ac": "P61221", "gene_name": "ABCE1", "activity": [ { "ec_number": "3.6.5.-", "activity": "", "evidence": [ { "id": "P61221", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P61221" } ] } ] }, { "uniprot_ac": "P61222", "gene_name": "Abce1", "activity": [ { "ec_number": "3.6.5.-", "activity": "", "evidence": [ { "id": "P61222", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P61222" } ] } ] }, { "uniprot_ac": "P61224", "gene_name": "RAP1B", "activity": [ { "ec_number": "3.6.5.2", "activity": "GTP + H2O = GDP + H(+) + phosphate.", "evidence": [ { "id": "P61224", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P61224" } ] }, { "ec_number": "3.6.5.2", "activity": "", "evidence": [ { "id": "P61224", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P61224" } ] } ] }, { "uniprot_ac": "P61225", "gene_name": "RAP2B", "activity": [ { "ec_number": "3.6.5.2", "activity": "GTP + H2O = GDP + H(+) + phosphate.", "evidence": [ { "id": "P61225", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P61225" } ] }, { "ec_number": "3.6.5.2", "activity": "", "evidence": [ { "id": "P61225", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P61225" } ] } ] }, { "uniprot_ac": "P61226", "gene_name": "Rap2b", "activity": [ { "ec_number": "3.6.5.2", "activity": "GTP + H2O = GDP + H(+) + phosphate.", "evidence": [ { "id": "P61226", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P61226" } ] }, { "ec_number": "3.6.5.2", "activity": "", "evidence": [ { "id": "P61226", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P61226" } ] } ] }, { "uniprot_ac": "P61227", "gene_name": "Rap2b", "activity": [ { "ec_number": "3.6.5.2", "activity": "GTP + H2O = GDP + H(+) + phosphate.", "evidence": [ { "id": "P61227", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P61227" } ] }, { "ec_number": "3.6.5.2", "activity": "", "evidence": [ { "id": "P61227", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P61227" } ] } ] }, { "uniprot_ac": "P61294", "gene_name": "Rab6b", "activity": [ { "ec_number": "3.6.5.2", "activity": "GTP + H2O = GDP + H(+) + phosphate.", "evidence": [ { "id": "P61294", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P61294" } ] }, { "ec_number": "3.6.5.2", "activity": "", "evidence": [ { "id": "P61294", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P61294" } ] } ] }, { "uniprot_ac": "P61586", "gene_name": "RHOA", "activity": [ { "ec_number": "3.6.5.2", "activity": "GTP + H2O = GDP + H(+) + phosphate.", "evidence": [ { "id": "P61586", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P61586" } ] }, { "ec_number": "3.6.5.2", "activity": "", "evidence": [ { "id": "P61586", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P61586" } ] } ] }, { "uniprot_ac": "P61589", "gene_name": "Rhoa", "activity": [ { "ec_number": "3.6.5.2", "activity": "GTP + H2O = GDP + H(+) + phosphate.", "evidence": [ { "id": "P61589", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P61589" } ] }, { "ec_number": "3.6.5.2", "activity": "", "evidence": [ { "id": "P61589", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P61589" } ] } ] }, { "uniprot_ac": "P62070", "gene_name": "RRAS2", "activity": [ { "ec_number": "3.6.5.-", "activity": "", "evidence": [ { "id": "P62070", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P62070" } ] } ] }, { "uniprot_ac": "P62071", "gene_name": "Rras2", "activity": [ { "ec_number": "3.6.5.-", "activity": "", "evidence": [ { "id": "P62071", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P62071" } ] } ] }, { "uniprot_ac": "P62330", "gene_name": "ARF6", "activity": [ { "ec_number": "3.6.5.2", "activity": "GTP + H2O = GDP + H(+) + phosphate.", "evidence": [ { "id": "P62330", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P62330" } ] }, { "ec_number": "3.6.5.2", "activity": "", "evidence": [ { "id": "P62330", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P62330" } ] } ] }, { "uniprot_ac": "P62331", "gene_name": "Arf6", "activity": [ { "ec_number": "3.6.5.2", "activity": "GTP + H2O = GDP + H(+) + phosphate.", "evidence": [ { "id": "P62331", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P62331" } ] }, { "ec_number": "3.6.5.2", "activity": "", "evidence": [ { "id": "P62331", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P62331" } ] } ] }, { "uniprot_ac": "P62332", "gene_name": "Arf6", "activity": [ { "ec_number": "3.6.5.2", "activity": "GTP + H2O = GDP + H(+) + phosphate.", "evidence": [ { "id": "P62332", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P62332" } ] }, { "ec_number": "3.6.5.2", "activity": "", "evidence": [ { "id": "P62332", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P62332" } ] } ] }, { "uniprot_ac": "P62491", "gene_name": "RAB11A", "activity": [ { "ec_number": "3.6.5.2", "activity": "GTP + H2O = GDP + H(+) + phosphate.", "evidence": [ { "id": "P62491", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P62491" } ] }, { "ec_number": "3.6.5.2", "activity": "", "evidence": [ { "id": "P62491", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P62491" } ] } ] }, { "uniprot_ac": "P62492", "gene_name": "Rab11a", "activity": [ { "ec_number": "3.6.5.2", "activity": "GTP + H2O = GDP + H(+) + phosphate.", "evidence": [ { "id": "P62492", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P62492" } ] }, { "ec_number": "3.6.5.2", "activity": "", "evidence": [ { "id": "P62492", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P62492" } ] } ] }, { "uniprot_ac": "P62494", "gene_name": "Rab11a", "activity": [ { "ec_number": "3.6.5.2", "activity": "GTP + H2O = GDP + H(+) + phosphate.", "evidence": [ { "id": "P62494", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P62494" } ] }, { "ec_number": "3.6.5.2", "activity": "", "evidence": [ { "id": "P62494", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P62494" } ] } ] }, { "uniprot_ac": "P62630", "gene_name": "Eef1a1", "activity": [ { "ec_number": "3.6.5.-", "activity": "", "evidence": [ { "id": "P62630", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P62630" } ] } ] }, { "uniprot_ac": "P62820", "gene_name": "RAB1A", "activity": [ { "ec_number": "3.6.5.2", "activity": "GTP + H2O = GDP + H(+) + phosphate.", "evidence": [ { "id": "P62820", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P62820" } ] }, { "ec_number": "3.6.5.2", "activity": "", "evidence": [ { "id": "P62820", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P62820" } ] } ] }, { "uniprot_ac": "P62821", "gene_name": "Rab1A", "activity": [ { "ec_number": "3.6.5.2", "activity": "GTP + H2O = GDP + H(+) + phosphate.", "evidence": [ { "id": "P62821", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P62821" } ] }, { "ec_number": "3.6.5.2", "activity": "", "evidence": [ { "id": "P62821", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P62821" } ] } ] }, { "uniprot_ac": "P62826", "gene_name": "RAN", "activity": [ { "ec_number": "3.6.5.-", "activity": "", "evidence": [ { "id": "P62826", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P62826" } ] } ] }, { "uniprot_ac": "P62827", "gene_name": "Ran", "activity": [ { "ec_number": "3.6.5.-", "activity": "", "evidence": [ { "id": "P62827", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P62827" } ] } ] }, { "uniprot_ac": "P62828", "gene_name": "Ran", "activity": [ { "ec_number": "3.6.5.-", "activity": "", "evidence": [ { "id": "P62828", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P62828" } ] } ] }, { "uniprot_ac": "P62834", "gene_name": "RAP1A", "activity": [ { "ec_number": "3.6.5.2", "activity": "GTP + H2O = GDP + H(+) + phosphate.", "evidence": [ { "id": "P62834", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P62834" } ] }, { "ec_number": "3.6.5.2", "activity": "", "evidence": [ { "id": "P62834", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P62834" } ] } ] }, { "uniprot_ac": "P62835", "gene_name": "Rap1a", "activity": [ { "ec_number": "3.6.5.2", "activity": "GTP + H2O = GDP + H(+) + phosphate.", "evidence": [ { "id": "P62835", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P62835" } ] }, { "ec_number": "3.6.5.2", "activity": "", "evidence": [ { "id": "P62835", "database": "UniProtKB", "url": 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