{ "uniprot_canonical_ac": "O75323-1", "uniprot_ac": "O75323", "uniprot_id": "NIPS2_HUMAN", "mass": { "chemical_mass": 33743.0, "monoisotopic_mass": 33743.0 }, "refseq": { "ac": "NP_001189398", "name": "protein NipSnap homolog 2 isoform 2", "summary": "This gene encodes a member of the NipSnap family of proteins that may be involved in vesicular transport. The encoded protein is localized to mitochondria and plays a role in oxidative phosphorylation. A pseudogene of this gene is located on the long arm of chromosome 2. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Feb 2011].", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001189398" }, "gene_names": [ { "name": "NIPSNAP2", "resource": "UniProtKB", "type": "recommended", "url": "https://www.uniprot.org/uniprot/O75323", "id": "O75323" }, { "name": "GBAS", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001189398", "id": "NP_001189398" }, { "name": "GBAS", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprot/O75323", "id": "O75323" }, { "name": "NIPSNAP2", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001189398", "id": "NP_001189398" } ], "protein_names": [ { "name": "Protein NipSnap homolog 2", "resource": "UniProtKB", "type": "recommended", "url": "", "id": "O75323" }, { "name": "4-nitrophenylphosphatase domain and non-neuronal SNAP25-like 2; protein NipSnap homolog 2; glioblastoma amplified sequence", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001189398", "id": "NP_001189398" }, { "name": "Glioblastoma-amplified sequence", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "O75323" }, { "name": "NipSnap2", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "O75323" }, { "name": "protein NipSnap homolog 2 isoform 2", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001189398", "id": "NP_001189398" } ], "function": [ { "annotation": "CHCHD10 and GBAS are involved in oxidative phosphorylation.", "evidence": [ { "database": "RefSeq", "id": "NP_001189398", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001189398" }, { "database": "PubMed", "id": "20888800", "url": "https://glygen.org/publication/PubMed/20888800" } ] }, { "annotation": "Identified mitochondrial proteins 4-nitrophenylphosphatase domain and non-neuronal synaptosomal associated protein 25-like protein homolog (NIP-SNAP)-1 and -2 as clarithromycin-binding proteins. Production of proinflammatory cytokines induced by lipopolysaccharides and Pam3-CSK4 in epithelial cell lines BEAS-2B and T24 were suppressed by knockdown of NIP-SNAP-1 or -2", "evidence": [ { "database": "RefSeq", "id": "NP_001189398", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001189398" }, { "database": "PubMed", "id": "27998764", "url": "https://glygen.org/publication/PubMed/27998764" } ] }, { "annotation": "Knockdown of GBAS regulates esophageal cancer cell viability and apoptosis.", "evidence": [ { "database": "RefSeq", "id": "NP_001189398", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001189398" }, { "database": "PubMed", "id": "34036378", "url": "https://glygen.org/publication/PubMed/34036378" } ] }, { "annotation": "May act as a positive regulator of L-type calcium channels.", "evidence": [ { "database": "UniProtKB", "id": "O75323", "url": "https://www.uniprot.org/uniprot/O75323#function" }, { "database": "UniProtKB", "id": "O55126", "url": "https://www.uniprot.org/uniprot/O55126#function" } ] }, { "annotation": "NIP-SNAP-1 and -2 localized in the mitochondrial inner membrane space, whereas HSP60 localized in the matrix. Expression levels of NIP-SNAP-1 and -2 in cells were decreased by knockdown of HSP60, but not HSP10. The findings indicate that HSP60 promotes folding and maintains the stability of NIP-SNAP-1 and -2.", "evidence": [ { "database": "RefSeq", "id": "NP_001189398", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001189398" }, { "database": "PubMed", "id": "28011268", "url": "https://glygen.org/publication/PubMed/28011268" } ] }, { "annotation": "NIPSNAP1 and NIPSNAP2 have a redundant function in mitophagy and are predominantly expressed in different tissues.", "evidence": [ { "database": "RefSeq", "id": "NP_001189398", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001189398" }, { "database": "PubMed", "id": "30982665", "url": "https://glygen.org/publication/PubMed/30982665" } ] }, { "annotation": "Results show that the rs9642391C>G variant, which is located in the intron region of EGFR, is associated with GBAS expression and survival outcomes in surgically resected early-stage non-small cell lung cancer patients.", "evidence": [ { "database": "RefSeq", "id": "NP_001189398", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001189398" }, { "database": "PubMed", "id": "29806744", "url": "https://glygen.org/publication/PubMed/29806744" } ] }, { "annotation": "This gene encodes a member of the NipSnap family of proteins that may be involved in vesicular transport. The encoded protein is localized to mitochondria and plays a role in oxidative phosphorylation. A pseudogene of this gene is located on the long arm of chromosome 2. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Feb 2011].", "evidence": [ { "database": "RefSeq", "id": "NP_001189398", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001189398" } ] } ], "disease": [], "snv": [], "mutagenesis": [], "expression_tissue": [], "expression_disease": [ { "significant": "No", "trend": "up", "name": "Prostate cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:10283", "evidence": [ { "database": "BioXpress", "id": "O75323", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O75323" } ], "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, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, familial", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, hereditary", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "prostate cancer, hereditary, 7", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "HPC7", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "prostate cancer, hereditary, 7", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "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": "No", "trend": "down", "name": "Stomach cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:10534", "evidence": [ { "database": "BioXpress", "id": "O75323", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O75323" } ], "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 - 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"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", 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"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", 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"MAARVLRARGAAWAGGLLQRAAPCSLLPRLRTWTSSSNRSREDSWLKSLFVRKVDPRKDAHSNLLAKKETSNLYKLQFHNVKPECLEAYNKICSSLFAEHKDLTPAWFLGVPIMGFCPTHPVLGTSTACLTISIQSRGVAKDSRR", "length": 145, "header": "tr|F8WBI5-1|F8WBI5_HUMAN Computationally mapped isoform of Nipsnap homolog 2 OS=Homo sapiens OX=9606 GN=NIPSNAP2 PE=1 SV=1 CANONICAL=O75323-1" }, "locus": { "chromosome": "7", "start_pos": 55981502, "end_pos": 55964610, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000456204.5", "url": "https://www.ensembl.org/id/ENST00000456204.5" }, { "database": "Ensembl Peptide", "id": "ENSP00000398498.1", "url": "https://www.ensembl.org/id/ENSP00000398498.1" } ] } }, { "isoform_ac": "H7C333-1", "url": "", "sequence": { "sequence": "XQEVLPKIHEDKHYPCTLVGTWNTWYGEQDQAVHLWRYEGGYPALTEVMNKLRENKEFLEFRKARSDMLLSRKNQLLLEFSFWNEPVPRSGPNIYELRSYQLRPGTMIEWGNYW", "length": 114, "header": "tr|H7C333-1|H7C333_HUMAN Computationally mapped isoform of Nipsnap homolog 2 OS=Homo sapiens OX=9606 GN=NIPSNAP2 PE=1 SV=1 CANONICAL=O75323-1" }, "locus": { "chromosome": "7", "start_pos": 55991830, "end_pos": 55981473, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000415967.2", "url": "https://www.ensembl.org/id/ENST00000415967.2" }, { "database": "Ensembl Peptide", "id": "ENSP00000409266.2", "url": "https://www.ensembl.org/id/ENSP00000409266.2" } ] } }, { "isoform_ac": "O75323-1", "url": "", "sequence": { "sequence": "MAARVLRARGAAWAGGLLQRAAPCSLLPRLRTWTSSSNRSREDSWLKSLFVRKVDPRKDAHSNLLAKKETSNLYKLQFHNVKPECLEAYNKICQEVLPKIHEDKHYPCTLVGTWNTWYGEQDQAVHLWRYEGGYPALTEVMNKLRENKEFLEFRKARSDMLLSRKNQLLLEFSFWNEPVPRSGPNIYELRSYQLRPGTMIEWGNYWARAIRFRQDGNEAVGGFFSQIGQLYMVHHLWAYRDLQTREDIRNAAWHKHGWEELVYYTVPLIQEMESRIMIPLKTSPLQ", "length": 286, "header": "sp|O75323-1|NIPS2_HUMAN Isoform 1 of Protein NipSnap homolog 2 OS=Homo sapiens OX=9606 GN=NIPSNAP2 PE=1 SV=1 CANONICAL=O75323-1" }, "locus": { "chromosome": "7", "start_pos": 55999069, "end_pos": 55964610, "strand": "-", "evidence": [ { "database": 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"evidence": [ { "database": "Reactome", "id": "R-HSA-9013409", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9013409" } ], "reference": [ { "type": "PubMed", "id": "10967094", "url": "https://glygen.org/publication/PubMed/10967094" } ] }, { "title": "Interactions between Rho GTPases and Rho GDP dissociation inhibitor (Rho-GDI).", "journal": "Biochimie", "date": "2001", "authors": "Faure J, Dagher MC", "evidence": [ { "database": "Reactome", "id": "R-HSA-9013407", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9013407" } ], "reference": [ { "type": "PubMed", "id": "11368848", "url": "https://glygen.org/publication/PubMed/11368848" } ] }, { "title": "The hematopoiesis-specific GTP-binding protein RhoH is GTPase deficient and modulates activities of other Rho GTPases by an inhibitory function.", "journal": "Molecular and cellular biology", "date": "2002", "authors": "Li X, Bu X, Lu B, Avraham H, Flavell RA, Lim B", "evidence": [ { "database": "Reactome", "id": 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"url": "https://glygen.org/publication/PubMed/23029280" } ] }, { "title": "Deciphering the molecular and functional basis of Dbl family proteins: a novel systematic approach toward classification of selective activation of the Rho family proteins.", "journal": "The Journal of biological chemistry", "date": "2013", "authors": "Jaiswal M, Dvorsky R, Ahmadian MR", "evidence": [ { "database": "Reactome", "id": "R-HSA-9013409", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9013409" } ], "reference": [ { "type": "PubMed", "id": "23255595", "url": "https://glygen.org/publication/PubMed/23255595" } ] }, { "title": "The Formin FMNL3 Controls Early Apical Specification in Endothelial Cells by Regulating the Polarized Trafficking of Podocalyxin.", "journal": "Current biology : CB", "date": "2015", "authors": "Richards M, Hetheridge C, Mellor H", "evidence": [ { "database": "Reactome", "id": "R-HSA-9013409", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9013409" } ], "reference": 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Cell", "date": "2015", "authors": "Shanmughapriya S, Rajan S, Hoffman NE, Higgins AM, Tomar D, Nemani N, Hines KJ, Smith DJ, Eguchi A, Vallem S, Shaikh F, Cheung M, Leonard NJ, Stolakis RS, Wolfers MP, Ibetti J, Chuprun JK, Jog NR, Houser SR, Koch WJ, Elrod JW, Madesh M", "evidence": [ { "database": "UniProtKB", "id": "O75323", "url": "https://www.uniprot.org/uniprot/O75323" } ], "reference": [ { "type": "PubMed", "id": "26387735", "url": "https://glygen.org/publication/PubMed/26387735" } ] }, { "title": "Deciphering the Molecular and Functional Basis of RHOGAP Family Proteins: A SYSTEMATIC APPROACH TOWARD SELECTIVE INACTIVATION OF RHO FAMILY PROTEINS.", "journal": "The Journal of biological chemistry", "date": "2016", "authors": "Amin E, Jaiswal M, Derewenda U, Reis K, Nouri K, Koessmeier KT, Aspenstrom P, Somlyo AV, Dvorsky R, Ahmadian MR", "evidence": [ { "database": "Reactome", "id": "R-HSA-9013409", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9013409" } ], "reference": [ { "type": "PubMed", "id": "27481945", "url": "https://glygen.org/publication/PubMed/27481945" } ] }, { "title": "Mitochondrial proteins NIP-SNAP-1 and -2 are a target for the immunomodulatory activity of clarithromycin, which involves NF-kappaB-mediated cytokine production.", "journal": "Biochemical and biophysical research communications", "date": "2017", "authors": "Yamamoto S, Ogasawara N, Yamamoto K, Uemura C, Takaya Y, Shiraishi T, Sato T, Hashimoto S, Tsutsumi H, Takano K, Himi T, Yokota SI", "evidence": [ { "database": "RefSeq", "id": "NP_001189398", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001189398" } ], "reference": [ { "type": "PubMed", "id": "27998764", "url": "https://glygen.org/publication/PubMed/27998764" } ] }, { "title": "NIP-SNAP-1 and -2 mitochondrial proteins are maintained by heat shock protein 60.", "journal": "Biochemical and biophysical research communications", "date": "2017", "authors": "Yamamoto S, Okamoto T, Ogasawara N, Hashimoto S, Shiraishi T, Sato T, Yamamoto K, Tsutsumi H, Takano K, Himi T, Itoh H, Yokota SI", "evidence": [ { "database": "RefSeq", "id": "NP_001189398", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001189398" } ], "reference": [ { "type": "PubMed", "id": "28011268", "url": "https://glygen.org/publication/PubMed/28011268" } ] }, { "title": "Synthesis of a Highly Azide-Reactive and Thermosensitive Biofunctional Reagent for Efficient Enrichment and Large-Scale Identification of O-GlcNAc Proteins by Mass Spectrometry.", "journal": "Analytical chemistry", "date": "2017", "authors": "Zhang W, Liu T, Dong H, Bai H, Tian F, Shi Z, Chen M, Wang J, Qin W, Qian X", "evidence": [ { "database": "O-GlcNAc Database", "id": "O75323", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=O75323" } ], "reference": [ { "type": "PubMed", "id": "28510447", "url": "https://glygen.org/publication/PubMed/28510447" } ] }, { "title": "An RNAi screen of Rho signalling networks identifies RhoH as a regulator of Rac1 in prostate cancer cell migration.", "journal": "BMC biology", "date": "2018", "authors": "Tajadura-Ortega V, Garg R, Allen R, Owczarek C, Bright MD, Kean S, Mohd-Noor A, Grigoriadis A, Elston TC, Hahn KM, Ridley AJ", "evidence": [ { "database": "Reactome", "id": "R-HSA-9013407", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9013407" } ], "reference": [ { "type": "PubMed", "id": "29510700", "url": "https://glygen.org/publication/PubMed/29510700" } ] }, { "title": "Intronic variant of EGFR is associated with GBAS expression and survival outcome of early-stage non-small cell lung cancer.", "journal": "Thoracic cancer", "date": "2018", "authors": "Hong MJ, Lee SY, Choi JE, Kang HG, Do SK, Lee JH, Yoo SS, Lee EB, Seok Y, Cho S, Jheon S, Lee J, Cha SI, Kim CH, Park JY", "evidence": [ { "database": "RefSeq", "id": "NP_001189398", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001189398" } ], "reference": [ { "type": "PubMed", "id": "29806744", "url": "https://glygen.org/publication/PubMed/29806744" } ] }, { "title": "NIPSNAP1 and NIPSNAP2 Act as `Eat Me` Signals for Mitophagy.", "journal": "Developmental cell", "date": "2019", "authors": "Princely Abudu Y, Pankiv S, Mathai BJ, Hakon Lystad A, Bindesboll C, Brenne HB, Yoke Wui Ng M, Thiede B, Yamamoto A, Mutugi Nthiga T, Lamark T, Esguerra CV, Johansen T, Simonsen A", "evidence": [ { "database": "RefSeq", "id": "NP_001189398", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001189398" } ], "reference": [ { "type": "PubMed", "id": "30982665", "url": "https://glygen.org/publication/PubMed/30982665" } ] }, { "title": "Mapping the proximity interaction network of the Rho-family GTPases reveals signalling pathways and regulatory mechanisms.", "journal": "Nature cell biology", "date": "2020", "authors": "Bagci H, Sriskandarajah N, Robert A, Boulais J, Elkholi IE, Tran V, Lin ZY, Thibault MP, Dube N, Faubert D, Hipfner DR, Gingras AC, Cote JF", "evidence": [ { "database": "Reactome", "id": 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"https://www.ncbi.nlm.nih.gov/protein/NP_001189398" } ], "reference": [ { "type": "PubMed", "id": "34036378", "url": "https://glygen.org/publication/PubMed/34036378" } ] }, { "title": "Extracellular arginine availability modulates eIF2\u03b1 O-GlcNAcylation and heme oxygenase 1 translation for cellular homeostasis.", "journal": "Journal of biomedical science", "date": "2023-05-22", "authors": "Hung Yu-Wen, Ouyang Ching, Ping Xiaoli, Qi Yue, Wang Yi-Chang, Kung Hsing-Jien, Ann David K", "evidence": [ { "database": "O-GlcNAc Database", "id": "O75323", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=O75323" } ], "reference": [ { "type": "PubMed", "id": "37217939", "url": "https://glygen.org/publication/PubMed/37217939" } ] }, { "title": "GBAS, a novel gene encoding a protein with tyrosine phosphorylation sites and a transmembrane domain, is co-amplified with EGFR.", "journal": "Genomics", "date": "1998", "authors": "Wang X Y, Smith D I, Liu W, James C D", "evidence": [ { 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