{ "uniprot_canonical_ac": "A6NC51-1", "ptm_annotation": [], "sequence": { "header": "sp|A6NC51-1|T150B_HUMAN Isoform 1 of Modulator of macroautophagy TMEM150B OS=Homo sapiens OX=9606 GN=TMEM150B PE=2 SV=1 CANONICAL=A6NC51-1", "length": 233, "sequence": "MWGYLSLMPVFLAVWAISGVWIVFAIAVTNRTVDLSKGFPYISICGSFPPQSCIFSQVLNMGAALAAWICIVRYHQLRDWGVRRWPNQLILWTGLLCALGTSVVGNFQEKNQRPTHLAGAFLAFILGNVYFWLQLLLWRLKRLPQPGAAWIGPLRLGLCSVCTILIVAMIVLHACSLRSVSAACEWVVAMLLFALFGLLAVDFSALESCTLCVQPWPSLSPPPASPISLPVQL" }, "uniprot_id": "T150B_HUMAN", "enzyme_annotation": [], "glycation": [], "keywords": [ "glycoprotein", "predicted.uniprotkb_gly" ], "species": [ { "common_name": "Human", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A6NC51", "id": "A6NC51", "database": "UniProtKB" } ], "name": "Homo sapiens", "taxid": 9606 } ], "publication": [ { "reference": [ { "url": "https://www.ncbi.nlm.nih.gov/pubmed/19448619", "type": [ "PubMed" ], "id": "19448619" } ], "title": "Loci at chromosomes 13, 19 and 20 influence age at natural menopause.", "journal": "Nature genetics", "evidence": [ { "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001078957.1", "id": "NP_001078957.1", "database": "RefSeq" } ], "authors": "Stolk L, Zhai G, van Meurs JB, Verbiest MM, Visser JA, Estrada K, Rivadeneira F, Williams FM, Cherkas L, Deloukas P, Soranzo N, de Keyzer JJ, Pop VJ, Lips P, Lebrun CE, van der Schouw YT, Grobbee DE, Witteman J, Hofman A, Pols HA, Laven JS, Spector TD, Uitterlinden AG", "date": "2009" }, { "reference": [ { "url": "https://www.ncbi.nlm.nih.gov/pubmed/23307926", "type": [ "PubMed" ], "id": "23307926" } ], "title": "A genome-wide association study of early menopause and the combined impact of identified variants.", "journal": "Human molecular genetics", "evidence": [ { "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001078957.1", "id": "NP_001078957.1", "database": "RefSeq" } ], "authors": "Perry JR, Corre T, Esko T, Chasman DI, Fischer K, Franceschini N, He C, Kutalik Z, Mangino M, Rose LM, Vernon Smith A, Stolk L, Sulem P, Weedon MN, Zhuang WV, Arnold A, Ashworth A, Bergmann S, Buring JE, Burri A, Chen C, Cornelis MC, Couper DJ, Goodarzi MO, Gudnason V, Harris T, Hofman A, Jones M, Kraft P, Launer L, Laven JS, Li G, McKnight B, Masciullo C, Milani L, Orr N, Psaty BM, Ridker PM, Rivadeneira F, Sala C, Salumets A, Schoemaker M, Traglia M, Waeber G, Chanock SJ, Demerath EW, Garcia M, Hankinson SE, Hu FB, Hunter DJ, Lunetta KL, Metspalu A, Montgomery GW, Murabito JM, Newman AB, Ong KK, Spector TD, Stefansson K, Swerdlow AJ, Thorsteinsdottir U, Van Dam RM, Uitterlinden AG, Visser JA, Vollenweider P, Toniolo D, Murray A", "date": "2013" }, { "reference": [ { "url": "https://www.ncbi.nlm.nih.gov/pubmed/25608530", "type": [ "PubMed" ], "id": "25608530" } ], "title": "Plasticity of PI4KIIIalpha interactions at the plasma membrane.", "journal": "EMBO Rep.", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A6NC51", "id": "A6NC51", "database": "UniProtKB" }, { "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001078957.1", "id": "NP_001078957.1", "database": "RefSeq" } ], "authors": "Chung J., De Camilli P., Nakatsu F., Baskin J.M.", "date": "2015" }, { "reference": [ { "url": "https://www.ncbi.nlm.nih.gov/pubmed/25929859", "type": [ "PubMed" ], "id": "25929859" } ], "title": "DRAM-3 modulates autophagy and promotes cell survival in the absence of glucose.", "journal": "Cell Death Differ.", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A6NC51", "id": "A6NC51", "database": "UniProtKB" }, { "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001078957.1", "id": "NP_001078957.1", "database": "RefSeq" } ], "authors": "O'Prey J., Ryan K.M., Skommer J., Strachan D., Beaumatin F., Lao L.Y., Long J.S., Mrschtik M., O'Prey M.", "date": "2015" }, { "reference": [ { "url": "https://www.ncbi.nlm.nih.gov/pubmed/27046253", "type": [ "PubMed" ], "id": "27046253" } ], "title": "Another DRAM involved in autophagy and cell death.", "journal": "Autophagy", "evidence": [ { "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001078957.1", "id": "NP_001078957.1", "database": "RefSeq" } ], "authors": "Mrschtik M, Ryan KM", "date": "2016" }, { "reference": [ { "url": "https://www.ncbi.nlm.nih.gov/pubmed/27321926", "type": [ "PubMed" ], "id": "27321926" } ], "title": "Tentonin 3/TMEM150c Confers Distinct Mechanosensitive Currents in Dorsal-Root Ganglion Neurons with Proprioceptive Function.", "journal": "Neuron", "evidence": [ { "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001078957.1", "id": "NP_001078957.1", "database": "RefSeq" } ], "authors": "Hong GS, Lee B, Wee J, Chun H, Kim H, Jung J, Cha JY, Riew TR, Kim GH, Kim IB, Oh U", "date": "2016" }, { "reference": [ { "url": "https://www.ncbi.nlm.nih.gov/pubmed/28005267", "type": [ "PubMed" ], "id": "28005267" } ], "title": "Human gingiva transcriptome during wound healing.", "journal": "Journal of clinical periodontology", "evidence": [ { "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001078957.1", "id": "NP_001078957.1", "database": "RefSeq" } ], "authors": "Wang Y, Tatakis DN", "date": "2017" }, { "reference": [ { "url": "https://www.ncbi.nlm.nih.gov/pubmed/30704953", "type": [ "PubMed" ], "id": "30704953" } ], "title": "Variation analysis of theTMEM150B gene in Chinese women with premature ovarian insufficiency.", "journal": "Reproductive biomedicine online", "evidence": [ { "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001078957.1", "id": "NP_001078957.1", "database": "RefSeq" } ], "authors": "Shao T, Ke H, Liu R, Zhao S, Qin Y", "date": "2019" } ], "uniprot_ac": "A6NC51", "site_annotation": [ { "end_pos": 32, "annotation": "n_glycosylation_sequon", "start_pos": 30 } ], "isoforms": [ { "url": "https://www.uniprot.org/uniprot/A6NC51#A6NC51-1", "isoform_ac": "A6NC51-1", "locus": { "end_pos": 55312862, "strand": "+", "start_pos": 55321036, "chromosome": "19", "evidence": [ { "url": "https://www.ensembl.org/id/ENST00000326652", "id": "ENST00000326652", "database": "Ensembl Transcript" }, { "url": "https://www.ensembl.org/id/ENSP00000320757", "id": "ENSP00000320757", "database": "Ensembl Peptide" } ] }, "sequence": { "header": "sp|A6NC51-1|T150B_HUMAN Isoform 1 of Modulator of macroautophagy TMEM150B OS=Homo sapiens OX=9606 GN=TMEM150B PE=2 SV=1 CANONICAL=A6NC51-1", "length": 233, "sequence": "MWGYLSLMPVFLAVWAISGVWIVFAIAVTNRTVDLSKGFPYISICGSFPPQSCIFSQVLNMGAALAAWICIVRYHQLRDWGVRRWPNQLILWTGLLCALGTSVVGNFQEKNQRPTHLAGAFLAFILGNVYFWLQLLLWRLKRLPQPGAAWIGPLRLGLCSVCTILIVAMIVLHACSLRSVSAACEWVVAMLLFALFGLLAVDFSALESCTLCVQPWPSLSPPPASPISLPVQL" } }, { "url": "https://www.uniprot.org/uniprot/A6NC51#K7EKL2-1", "isoform_ac": "K7EKL2-1", "locus": { "end_pos": 55312970, "strand": "+", "start_pos": 55320451, "chromosome": "19", "evidence": [ { "url": "https://www.ensembl.org/id/ENST00000585918", "id": "ENST00000585918", "database": "Ensembl Transcript" }, { "url": "https://www.ensembl.org/id/ENSP00000465672", "id": "ENSP00000465672", "database": "Ensembl Peptide" } ] }, "sequence": { "header": "tr|K7EKL2-1|T150B_HUMAN Computationally mapped isoform of Modulator of macroautophagy TMEM150B OS=Homo sapiens OX=9606 GN=TMEM150B PE=2 SV=2 CANONICAL=A6NC51-1", "length": 152, "sequence": "GSFPPQSCIFSQVLNMGAALAAWICIVRYHQLRDWGVRRWPNQLILWTGLLCALGTSVVGNFQEKNQRPTHLAGAFLAFILGNVYFWLQLLLWRLKRLPQPGAAWIGPLRLGLCSVCTILIVAMIVLHACSLRSVSAACEWVVAMLLFALFG" } }, { "url": "https://www.uniprot.org/uniprot/A6NC51#K7EKW5-1", "isoform_ac": "K7EKW5-1", "locus": { "end_pos": 55316911, "strand": "+", "start_pos": 55321036, "chromosome": "19", "evidence": [ { "url": "https://www.ensembl.org/id/ENST00000592731", "id": "ENST00000592731", "database": "Ensembl Transcript" }, { "url": "https://www.ensembl.org/id/ENSP00000465815", "id": "ENSP00000465815", "database": "Ensembl Peptide" } ] }, "sequence": { "header": "tr|K7EKW5-1|T150B_HUMAN Computationally mapped isoform of Modulator of macroautophagy TMEM150B OS=Homo sapiens OX=9606 GN=TMEM150B PE=2 SV=1 CANONICAL=A6NC51-1", "length": 84, "sequence": "MWGYLSLMPVFLAVWAISGVWIVFAIAVTNRTVDLSKGFPYISICGSFPPQSCIFSQVLNMGAALGKEPAAYALGRGLPCLHLG" } }, { "url": "https://www.uniprot.org/uniprot/A6NC51#K7EM00-1", "isoform_ac": "K7EM00-1", "locus": { "end_pos": 55316889, "strand": "+", "start_pos": 55321036, "chromosome": "19", "evidence": [ { "url": "https://www.ensembl.org/id/ENST00000591570", "id": "ENST00000591570", "database": "Ensembl Transcript" }, { "url": "https://www.ensembl.org/id/ENSP00000466297", "id": "ENSP00000466297", "database": "Ensembl Peptide" } ] }, "sequence": { "header": "tr|K7EM00-1|T150B_HUMAN Computationally mapped isoform of Modulator of macroautophagy TMEM150B OS=Homo sapiens OX=9606 GN=TMEM150B PE=2 SV=1 CANONICAL=A6NC51-1", "length": 134, "sequence": "MWGYLSLMPVFLAVWAISGVWIVFAIAVTNRTVDLSKGFPYISICGSFPPQSCIFSQVLNMGAALAAWICIVRYHQLRDWGVRRWPNQLILWTGLLCALGTSVVGNFQEKNQRPTHLAGAFLAFILGNVYFWLQ" } }, { "url": "https://www.uniprot.org/uniprot/A6NC51#K7ENI3-1", "isoform_ac": "K7ENI3-1", "locus": { "end_pos": 55320106, "strand": "+", "start_pos": 55321036, "chromosome": "19", "evidence": [ { "url": "https://www.ensembl.org/id/ENST00000592603", "id": "ENST00000592603", "database": "Ensembl Transcript" }, { "url": "https://www.ensembl.org/id/ENSP00000468745", "id": "ENSP00000468745", "database": "Ensembl Peptide" } ] }, "sequence": { "header": "tr|K7ENI3-1|T150B_HUMAN Computationally mapped isoform of Modulator of macroautophagy TMEM150B OS=Homo sapiens OX=9606 GN=TMEM150B PE=2 SV=1 CANONICAL=A6NC51-1", "length": 63, "sequence": "MWGYLSLMPVFLAVWAISGVWIVFAIAVTNRTVDLSKGFPYISRVDLHCPLPPAPGLGRQKVA" } } ], "pathway": [ { "url": "https://www.genome.jp/dbget-bin/get_linkdb?-t+pathway+hsa:284417", "resource": "KEGG Pathway", "id": "hsa:284417", "name": "" } ], "function": [ { "url": "https://www.uniprot.org/uniprot/A6NC51#function", "annotation": "Modulator of macroautophagy that causes accumulation of autophagosomes under basal conditions and enhances autophagic flux (PubMed:25929859). Represses cell death and promotes long-term clonogenic survival of cells grown in the absence of glucose in a macroautophagy-independent manner (PubMed:25929859). May have some role in extracellular matrix engulfment or growth factor receptor recycling, both of which can modulate cell survival (PubMed:25929859).", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A6NC51#function", "id": "A6NC51", "database": "UniProtKB" } ] }, { "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001078957.1", "annotation": "TMEM150B expression is significantly upregulated in human masticatory mucosa during wound healing", "evidence": [ { "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001078957.1", "id": "NP_001078957.1", "database": "RefSeq" } ] }, { "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001078957.1", "annotation": "TMEM150B, renamed as DRAM-3, is a modulator of both macroautophagy and cell survival under starvation conditions. Erratum:[Cell Death Differ. 2017 Jun 30;(8):1470. PMID: 28665403]", "evidence": [ { "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001078957.1", "id": "NP_001078957.1", "database": "RefSeq" } ] }, { "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001078957.1", "annotation": "The results suggest that the perturbations in the TMEM150B gene are not a common explanation for premature ovarian insufficiency in Chinese women.", "evidence": [ { "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001078957.1", "id": "NP_001078957.1", "database": "RefSeq" } ] } ], "orthologs": [ { "uniprot_canonical_ac": "D3ZEH7-1", "protein_name": "Similar to A630041N19 protein (Predicted)", "sequence": { "length": 238, "sequence": "MWNYLSLLPVILALWAIAGIWIVFAIAVVNGSVDLEKGFPFISNCGSYAPQSCIFGQILNTGAALAVWICIVRYHQLRDWGVKTWQNQLILWSGILCAVGTSIVGNFQEKNQKPTHLAGAFLAFILGNLYFWLQFFLSWWMKGLPQPGPHWIRLLRLSLCSLSTILIVTMIVLHSLHMRSASAICEWTVAMLLFVLFGFFAVDFSSFRGCTLHLQPHLDSSLQQAPSGSPNIQMAMVL" }, "evidence": [ { "url": "https://omabrowser.org/oma/group/A6NC51/", "id": "A6NC51", "database": "OMA" }, { "url": "http://www.informatics.jax.org/homology/19603", "id": "19603", "database": "MGI" } ], "common_name": "Rat", "organism": "Rattus norvegicus", "gene_name": "Tmem150b", "tax_id": 10116 }, { "uniprot_canonical_ac": "Q8R218-1", "protein_name": "Modulator of macroautophagy TMEM150B", "sequence": { "length": 238, "sequence": "MWNYLSLLPVILFLWAIAGIWIVFAIAVVNGSVDLNEGFPFISICGSYAPQSCIFGQVLNIGAALTVWICIVRHHQLRDWGVKTWQNQLILWSGILCALGTSIVGNFQDKNQKPTHLAGAFLAFILGNLYFWLQFFLSWWVKGLPQPGPHWIKSLRLSLCSLSTILIVAMIVLHALHMRSASAICEWVVAMLLFMLFGFFAVDFSILRGCTLHLHPRLDSSLPQAPSGSPNIQMAQVL" }, "evidence": [ { "url": "https://omabrowser.org/oma/group/A6NC51/", "id": "A6NC51", "database": "OMA" }, { "url": "http://www.informatics.jax.org/homology/19603", "id": "19603", "database": "MGI" } ], "common_name": "Mouse", "organism": "Mus musculus", "gene_name": "Tmem150b", "tax_id": 10090 } ], "interactions": [], "synthesized_glycans": [], "snv": [ { "sequence_org": "C", "start_pos": 184, "alt_nt": "G", "chr_id": "19", "ref_nt": "A", "chr_pos": "55824379", "disease": [ { "synonyms": [ { "id": "DOID:1781", "url": "http://disease-ontology.org/term/DOID:1781", "resource": "Disease Ontology", "name": "Thyroid gland neoplasm", "description": "" }, { "id": "DOID:1781", "url": "http://disease-ontology.org/term/DOID:1781", "resource": "Disease Ontology", "name": "malignant neoplasm of thyroid gland", "description": "" }, { "id": "DOID:1781", "url": "http://disease-ontology.org/term/DOID:1781", "resource": "Disease Ontology", "name": "malignant tumour of thyroid gland", "description": "" }, { "id": "DOID:1781", "url": "http://disease-ontology.org/term/DOID:1781", "resource": "Disease Ontology", "name": "neoplasm of thyroid gland", "description": "" }, { "id": "DOID:1781", "url": "http://disease-ontology.org/term/DOID:1781", "resource": "Disease Ontology", "name": "thyroid neoplasm", "description": "" } ], "recommended_name": { "id": "DOID:1781", "url": "http://disease-ontology.org/term/DOID:1781", "resource": "Disease Ontology", "name": "thyroid gland cancer", "description": "An endocrine gland cancer located in the thryoid gland located in the neck below the thyroid cartilage." } } ], "evidence": [ { "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/A6NC51", "id": "A6NC51", "database": "BioMuta" } ], "glycoeffect": [], "frequency": "2.0", "sequence_mut": "R", "subjects_tested": "50", "keywords": [ "biomuta", "somatic", "cancer", "disease" ], "annotation": "Somatic mutation passed 1 out of 6 filters: patient freq. (2.0%).", "end_pos": 184, "minor_allelic_frequency": "", "subjects_positive": "1" }, { "sequence_org": "L", "start_pos": 199, "alt_nt": "G", "chr_id": "19", "ref_nt": "T", "chr_pos": "55824332", "disease": [ { "synonyms": [ { "id": "DOID:1612", "url": "http://disease-ontology.org/term/DOID:1612", "resource": "Disease Ontology", "name": "breast tumor", "description": "" }, { "id": "DOID:1612", "url": "http://disease-ontology.org/term/DOID:1612", "resource": "Disease Ontology", "name": "malignant neoplasm of breast", "description": "" }, { "id": "DOID:1612", "url": "http://disease-ontology.org/term/DOID:1612", "resource": "Disease Ontology", "name": "malignant tumor of the breast", "description": "" }, { "id": "DOID:1612", "url": "http://disease-ontology.org/term/DOID:1612", "resource": "Disease Ontology", "name": "mammary cancer", "description": "" }, { "id": "DOID:1612", "url": "http://disease-ontology.org/term/DOID:1612", "resource": "Disease Ontology", "name": "mammary tumor", "description": "" }, { "id": "DOID:1612", "url": "http://disease-ontology.org/term/DOID:1612", "resource": "Disease Ontology", "name": "primary breast cancer", "description": "" } ], "recommended_name": { "id": "DOID:1612", "url": "http://disease-ontology.org/term/DOID:1612", "resource": "Disease Ontology", "name": "breast cancer", "description": "A thoracic cancer that originates in the mammary gland." } } ], "evidence": [ { "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/A6NC51", "id": "A6NC51", "database": "BioMuta" } ], "glycoeffect": [], "frequency": "2.0", "sequence_mut": "F", "subjects_tested": "50", "keywords": [ "biomuta", "somatic", "cancer", "disease" ], "annotation": "Somatic mutation passed 1 out of 6 filters: patient freq. (2.0%).", "end_pos": 199, "minor_allelic_frequency": "", "subjects_positive": "1" }, { "sequence_org": "V", "start_pos": 23, "alt_nt": "T", "chr_id": "19", "ref_nt": "C", "chr_pos": "55832338", "disease": [ { "synonyms": [ { "id": "DOID:2394", "url": "http://disease-ontology.org/term/DOID:2394", "resource": "Disease Ontology", "name": "malignant Ovarian tumor", "description": "" }, { "id": "DOID:2394", "url": "http://disease-ontology.org/term/DOID:2394", "resource": "Disease Ontology", "name": "malignant tumour of ovary", "description": "" }, { "id": "DOID:2394", "url": "http://disease-ontology.org/term/DOID:2394", "resource": "Disease Ontology", "name": "ovarian neoplasm", "description": "" }, { "id": "DOID:2394", "url": "http://disease-ontology.org/term/DOID:2394", "resource": "Disease Ontology", "name": "ovary neoplasm", "description": "" }, { "id": "DOID:2394", "url": "http://disease-ontology.org/term/DOID:2394", "resource": "Disease Ontology", "name": "primary ovarian cancer", "description": "" }, { "id": "DOID:2394", "url": "http://disease-ontology.org/term/DOID:2394", "resource": "Disease Ontology", "name": "tumor of the Ovary", "description": "" } ], "recommended_name": { "id": "DOID:2394", "url": "http://disease-ontology.org/term/DOID:2394", "resource": "Disease Ontology", "name": "ovarian cancer", "description": "A female reproductive organ cancer that is located_in the ovary." } } ], "evidence": [ { "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/A6NC51", "id": "A6NC51", "database": "BioMuta" } ], "glycoeffect": [], "frequency": "1.1", "sequence_mut": "I", "subjects_tested": "93", "keywords": [ "biomuta", "somatic", "cancer", "disease" ], "annotation": "Somatic mutation passed 1 out of 6 filters: patient freq. (1.1%). In dbSNP: rs199745150.", "end_pos": 23, "minor_allelic_frequency": "", "subjects_positive": "1" }, { "sequence_org": "N", "alt_nt": "null", "chr_id": "19", "ref_nt": "C", "chr_pos": "55320598T>", "evidence": [ { "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1265987483", "id": "rs1265987483", "database": "dbSNP" }, { "url": "https://www.ncbi.nlm.nih.gov/snp/rs1265987483#frequency_tab", "id": "rs1265987483", "database": "TOPMed" } ], "glycoeffect": [ "n-glyco-sequon-loss" ], "sequence_mut": "D", "start_pos": 30, "keywords": [ "ebi", "germline" ], "end_pos": 30, "minor_allelic_frequency": "", "annotation": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-loss (NRT->DRT)." }, { "sequence_org": "C", "start_pos": 53, "alt_nt": "T", "chr_id": "19", "ref_nt": "C", "chr_pos": "55831797", "disease": [ { "synonyms": [ { "id": "DOID:1781", "url": "http://disease-ontology.org/term/DOID:1781", "resource": "Disease Ontology", "name": "Thyroid gland neoplasm", "description": "" }, { "id": "DOID:1781", "url": "http://disease-ontology.org/term/DOID:1781", "resource": "Disease Ontology", "name": "malignant neoplasm of thyroid gland", "description": "" }, { "id": "DOID:1781", "url": "http://disease-ontology.org/term/DOID:1781", "resource": "Disease Ontology", "name": "malignant tumour of thyroid gland", "description": "" }, { "id": "DOID:1781", "url": "http://disease-ontology.org/term/DOID:1781", "resource": "Disease Ontology", "name": "neoplasm of thyroid gland", "description": "" }, { "id": "DOID:1781", "url": "http://disease-ontology.org/term/DOID:1781", "resource": "Disease Ontology", "name": "thyroid neoplasm", "description": "" } ], "recommended_name": { "id": "DOID:1781", "url": "http://disease-ontology.org/term/DOID:1781", "resource": "Disease Ontology", "name": "thyroid gland cancer", "description": "An endocrine gland cancer located in the thryoid gland located in the neck below the thyroid cartilage." } } ], "evidence": [ { "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/A6NC51", "id": "A6NC51", "database": "BioMuta" } ], "glycoeffect": [], "frequency": "2.0", "sequence_mut": "Y", "subjects_tested": "50", "keywords": [ "biomuta", "somatic", "cancer", "disease" ], "annotation": "Somatic mutation passed 1 out of 6 filters: patient freq. (2.0%).", "end_pos": 53, "minor_allelic_frequency": "", "subjects_positive": "1" } ], "cluster_types": [ { "name": "isoformset.uniprotkb", "label": "Isoforms" }, { "name": "homologset.oma", "label": "OMA Homologs" }, { "name": "homologset.mgi", "label": "MGI Homologs" } ], "refseq": { "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001078957.1", "ac": "NP_001078957.1", "name": "modulator of macroautophagy TMEM150B isoform a", "summary": "This gene encodes a protein that belongs to the DRAM (damage-regulated autophagy modulator) family of membrane-spanning proteins. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Aug 2013]." }, "go_annotation": { "categories": [ { "go_terms": [ { "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005887", "pmid": "25608530", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A6NC51", "id": "A6NC51", "database": "UniProtKB" } ], "name": "integral component of plasma membrane", "id": "GO:0005887" }, { "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005764", "pmid": "21873635", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A6NC51", "id": "A6NC51", "database": "UniProtKB" } ], "name": "lysosome", "id": "GO:0005764" }, { "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000421", "pmid": "", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A6NC51", "id": "A6NC51", "database": "UniProtKB" } ], "name": "autophagosome membrane", "id": "GO:0000421" }, { "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010008", "pmid": "", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A6NC51", "id": "A6NC51", "database": "UniProtKB" } ], "name": "endosome membrane", "id": "GO:0010008" } ], "total": 4, "name": "Cellular Component" }, { "go_terms": [ { "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010506", "pmid": "21873635", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A6NC51", "id": "A6NC51", "database": "UniProtKB" } ], "name": "regulation of autophagy", "id": "GO:0010506" }, { "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006914", "pmid": "", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A6NC51", "id": "A6NC51", "database": "UniProtKB" } ], "name": "autophagy", "id": "GO:0006914" } ], "total": 2, "name": "Biological Process" } ] }, "gene_names": [ { "url": "https://www.ncbi.nlm.nih.gov/protein/A6NC51", "type": "synonym", "resource": "RefSeq", "name": "DRAM3; TMEM224; TTN2" }, { "url": "https://www.ncbi.nlm.nih.gov/protein/A6NC51", "type": "synonym", "resource": "RefSeq", "name": "TMEM150B" }, { "url": "https://www.uniprot.org/uniprot/A6NC51", "type": "recommended", "resource": "UniProtKB", "name": "TMEM150B" }, { "url": "https://www.uniprot.org/uniprot/A6NC51", "type": "synonym", "resource": "UniProtKB", "name": "TMEM224" } ], "pro_annotation": [], "crossref": [ { "url": "https://bgee.org/?page=gene&gene_id=ENSG00000180061", "id": "ENSG00000180061", "database": "Bgee" }, { "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/A6NC51", "id": "A6NC51", "database": "BioMuta" }, { "url": "http://www.genecards.org/cgi-bin/carddisp.pl?gene=TMEM150B", "id": "TMEM150B", "database": "GeneCards" }, { "url": "https://www.ncbi.nlm.nih.gov/gene/284417", "id": "284417", "database": "GeneID" }, { "url": "https://www.genenames.org/cgi-bin/gene_symbol_report?hgnc_id=34415", "id": "34415", "database": "HGNC" }, { "url": "https://www.ebi.ac.uk/interpro/entry/IPR019402", "id": "IPR019402", "database": "InterPro" }, { "url": "https://www.genome.jp/dbget-bin/get_linkdb?-t+pathway+hsa:284417", "id": "hsa:284417", "database": "KEGG Pathway" }, { "url": "https://www.nextprot.org/entry/NX_A6NC51", "id": "NX_A6NC51", "database": "neXtProt" }, { "url": "https://omabrowser.org/oma/group/TEGFPYI/", "id": "TEGFPYI", "database": "OMA" }, { "url": "http://www.orthodb.org/?query=1199230at2759", "id": "1199230at2759", "database": "OrthoDB" }, { "url": "http://pfam.xfam.org/family/PF10277", "id": "PF10277", "database": "Pfam" }, { "url": "https://pharos.nih.gov/targets/A6NC51", "id": "A6NC51", "database": "PHAROS" }, { "url": "http://purl.obolibrary.org/obo/PR_PR_A6NC51", "id": "PR_A6NC51", "database": "PRO" }, { "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001078957.1", "id": "NP_001078957.1", "database": "RefSeq" }, { "url": "https://www.uniprot.org/uniprot/A6NC51", "id": "A6NC51", "database": "UniProtKB" } ], "expression_disease": [ { "name": "Prostate cancer [DO disease name]", "trend": "Up", "disease": [ { "synonyms": [ { "id": "DOID:10283", "url": "http://disease-ontology.org/term/DOID:10283", "resource": "Disease Ontology", "name": "NGP - new growth of prostate", "description": "" }, { "id": "DOID:10283", "url": "http://disease-ontology.org/term/DOID:10283", "resource": "Disease Ontology", "name": "hereditary prostate cancer", "description": "" }, { "id": "DOID:10283", "url": "http://disease-ontology.org/term/DOID:10283", "resource": "Disease Ontology", "name": "malignant tumor of the prostate", "description": "" }, { "id": "DOID:10283", "url": "http://disease-ontology.org/term/DOID:10283", "resource": "Disease Ontology", "name": "prostate cancer, familial", "description": "" }, { "id": "DOID:10283", "url": "http://disease-ontology.org/term/DOID:10283", "resource": "Disease Ontology", "name": "prostate neoplasm", "description": "" }, { "id": "DOID:10283", "url": "http://disease-ontology.org/term/DOID:10283", "resource": "Disease Ontology", "name": "prostatic cancer", "description": "" }, { "id": "DOID:10283", "url": "http://disease-ontology.org/term/DOID:10283", "resource": "Disease Ontology", "name": "prostatic neoplasm", "description": "" }, { "id": "DOID:10283", "url": "http://disease-ontology.org/term/DOID:10283", "resource": "Disease Ontology", "name": "tumor of the prostate", "description": "" } ], "recommended_name": { "id": "DOID:10283", "url": "http://disease-ontology.org/term/DOID:10283", "resource": "Disease Ontology", "name": "prostate cancer", "description": "A male reproductive organ cancer that is located_in the prostate." } } ], "evidence": [ { "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/A6NC51", "id": "A6NC51", "database": "BioXpress" } ], "url": "http://disease-ontology.org/term/DOID:10283", "significant": "No" }, { "name": "Urinary bladder cancer [DO disease name]", "trend": "Down", "disease": [ { "synonyms": [ { "id": "DOID:11054", "url": "http://disease-ontology.org/term/DOID:11054", "resource": "Disease Ontology", "name": "bladder cancer", "description": "" }, { "id": "DOID:11054", "url": "http://disease-ontology.org/term/DOID:11054", "resource": "Disease Ontology", "name": "tumor of the bladder", "description": "" } ], "recommended_name": { "id": "DOID:11054", "url": "http://disease-ontology.org/term/DOID:11054", "resource": "Disease Ontology", "name": "urinary bladder cancer", "description": "An urinary system cancer that results_in malignant growth located_in the urinary bladder." } } ], "evidence": [ { "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/A6NC51", "id": "A6NC51", "database": "BioXpress" } ], "url": "http://disease-ontology.org/term/DOID:11054", "significant": "No" }, { "name": "Thyroid gland cancer [DO disease name]", "trend": "Up", "disease": [ { "synonyms": [ { "id": "DOID:1781", "url": "http://disease-ontology.org/term/DOID:1781", "resource": "Disease Ontology", "name": "Thyroid gland neoplasm", "description": "" }, { "id": "DOID:1781", "url": "http://disease-ontology.org/term/DOID:1781", "resource": "Disease Ontology", "name": "malignant neoplasm of thyroid gland", "description": "" }, { "id": "DOID:1781", "url": "http://disease-ontology.org/term/DOID:1781", "resource": "Disease Ontology", "name": "malignant tumour of thyroid gland", "description": "" }, { "id": "DOID:1781", "url": "http://disease-ontology.org/term/DOID:1781", "resource": "Disease Ontology", "name": "neoplasm of thyroid gland", "description": "" }, { "id": "DOID:1781", "url": "http://disease-ontology.org/term/DOID:1781", "resource": "Disease Ontology", "name": "thyroid neoplasm", "description": "" } ], "recommended_name": { "id": "DOID:1781", "url": "http://disease-ontology.org/term/DOID:1781", "resource": "Disease Ontology", "name": "thyroid gland cancer", "description": "An endocrine gland cancer located in the thryoid gland located in the neck below the thyroid cartilage." } } ], "evidence": [ { "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/A6NC51", "id": "A6NC51", "database": "BioXpress" } ], "url": "http://disease-ontology.org/term/DOID:1781", "significant": "No" }, { "name": "Liver cancer [DO disease name]", "trend": "Up", "disease": [ { "synonyms": [ { "id": "DOID:3571", "url": "http://disease-ontology.org/term/DOID:3571", "resource": "Disease Ontology", "name": "Ca liver - primary", "description": "" }, { "id": "DOID:3571", "url": "http://disease-ontology.org/term/DOID:3571", "resource": "Disease Ontology", "name": "Resectable malignant neoplasm of Liver", "description": "" }, { "id": "DOID:3571", "url": "http://disease-ontology.org/term/DOID:3571", "resource": "Disease Ontology", "name": "hepatic cancer", "description": "" }, { "id": "DOID:3571", "url": "http://disease-ontology.org/term/DOID:3571", "resource": "Disease Ontology", "name": "hepatic neoplasm", "description": "" }, { "id": "DOID:3571", "url": "http://disease-ontology.org/term/DOID:3571", "resource": "Disease Ontology", "name": "malignant hepato-biliary neoplasm", "description": "" }, { "id": "DOID:3571", "url": "http://disease-ontology.org/term/DOID:3571", "resource": "Disease Ontology", "name": "malignant neoplasm of liver", "description": "" }, { "id": "DOID:3571", "url": "http://disease-ontology.org/term/DOID:3571", "resource": "Disease Ontology", "name": "malignant neoplasm of liver, primary", "description": "" }, { "id": "DOID:3571", "url": "http://disease-ontology.org/term/DOID:3571", "resource": "Disease Ontology", "name": "malignant tumor of liver", "description": "" }, { "id": "DOID:3571", "url": "http://disease-ontology.org/term/DOID:3571", "resource": "Disease Ontology", "name": "neoplasm of liver", "description": "" }, { "id": "DOID:3571", "url": "http://disease-ontology.org/term/DOID:3571", "resource": "Disease Ontology", "name": "non-resectable primary hepatic malignant neoplasm", "description": "" }, { "id": "DOID:3571", "url": "http://disease-ontology.org/term/DOID:3571", "resource": "Disease Ontology", "name": "primary liver cancer", "description": "" }, { "id": "DOID:3571", "url": "http://disease-ontology.org/term/DOID:3571", "resource": "Disease 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"disease": [ { "synonyms": [ { "id": "DOID:3907", "url": "http://disease-ontology.org/term/DOID:3907", "resource": "Disease Ontology", "name": "Epidermoid cell carcinoma of the lung", "description": "" } ], "recommended_name": { "id": "DOID:3907", "url": "http://disease-ontology.org/term/DOID:3907", "resource": "Disease Ontology", "name": "lung squamous cell carcinoma", "description": "A non-small cell lung carcinoma that has_material_basis_in the squamous cell." } } ], "evidence": [ { "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/A6NC51", "id": "A6NC51", "database": "BioXpress" } ], "url": "http://disease-ontology.org/term/DOID:3907", "significant": "Yes" }, { "name": "Lung adenocarcinoma [DO disease name]", "trend": "Down", "disease": [ { "synonyms": [ { "id": "DOID:3910", "url": "http://disease-ontology.org/term/DOID:3910", "resource": "Disease Ontology", "name": "bronchogenic lung adenocarcinoma", "description": "" }, { "id": "DOID:3910", "url": 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"ENSG00000180061", "database": "Bgee" } ] } ], "gene": [ { "url": "https://www.uniprot.org/uniprot/A6NC51", "name": "TMEM150B", "locus": { "end_pos": 55312801, "strand": "-", "start_pos": 55334048, "chromosome": "19", "evidence": [ { "url": "https://www.ensembl.org/id/ENSG00000180061", "id": "ENSG00000180061", "database": "Ensembl Gene" } ] } } ], "protein_names": [ { "url": "https://www.uniprot.org/uniprot/A6NC51#names_and_taxonomy", "type": "recommended", "resource": "UniProtKB", "name": "Modulator of macroautophagy TMEM150B" }, { "url": "https://www.uniprot.org/uniprot/A6NC51#names_and_taxonomy", "type": "synonym", "resource": "UniProtKB", "name": "Protein DRAM-3" }, { "url": "https://www.uniprot.org/uniprot/A6NC51#names_and_taxonomy", "type": "synonym", "resource": "UniProtKB", "name": "Transmembrane protein 150B" }, { "url": "https://www.uniprot.org/uniprot/A6NC51#names_and_taxonomy", "type": "synonym", "resource": "UniProtKB", "name": "Transmembrane protein 224" }, { "url": "https://www.ncbi.nlm.nih.gov/protein/A6NC51", "type": "synonym", "resource": "RefSeq", "name": "hCG1651476; transmembrane protein LOC284417; transmembrane protein 224; tentonin 2; protein DRAM-3; modulator of macroautophagy TMEM150B; DRAM-Related/Associated Member 3" }, { "url": "https://www.ncbi.nlm.nih.gov/protein/A6NC51", "type": "synonym", "resource": "RefSeq", "name": "modulator of macroautophagy TMEM150B isoform a" } ] }