{ "uniprot_canonical_ac": "O43147-1", "uniprot_ac": "O43147", "uniprot_id": "SGSM2_HUMAN", "mass": { "chemical_mass": 113285.0, "monoisotopic_mass": 113285.0 }, "refseq": { "ac": "NP_001091979", "name": "small G protein signaling modulator 2 isoform 2", "summary": "The protein encoded by this gene is a GTPase activator with activity towards RAB32 and RAB33B, which are regulators of membrane trafficking. The encoded protein inactivates RAB32 and can bind RAB9A-GTP, a protein required for RAB32 activation. [provided by RefSeq, Oct 2016].", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001091979" }, "gene_names": [ { "name": "SGSM2", "resource": "UniProtKB", "type": "recommended", "url": "https://www.uniprot.org/uniprot/O43147", "id": "O43147" }, { "name": "KIAA0397", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprot/O43147", "id": "O43147" }, { "name": "RUTBC1", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001091979", "id": "NP_001091979" }, { "name": "RUTBC1", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprot/O43147", "id": "O43147" }, { "name": "SGSM2", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001091979", "id": "NP_001091979" } ], "protein_names": [ { "name": "Small G protein signaling modulator 2", "resource": "UniProtKB", "type": "recommended", "url": "", "id": "O43147" }, { "name": "RUN and TBC1 domain containing 1; small G protein signaling modulator 2 protein", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001091979", "id": "NP_001091979" }, { "name": "RUN and TBC1 domain-containing protein 1", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "O43147" }, { "name": "small G protein signaling modulator 2 isoform 2", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001091979", "id": "NP_001091979" } ], "function": [ { "annotation": "Data suggest RUTBC1/SGSM2 in melanocytes functions as physiological GTPase-activating protein for Rab32/Rab38 in regulation of transport of melanogenic enzymes (tyrosinase, tyrosinase-related protein 1, dopachrome isomerase) into melanosomes.", "evidence": [ { "database": "RefSeq", "id": "NP_001091979", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001091979" }, { "database": "PubMed", "id": "26620560", "url": "https://glygen.org/publication/PubMed/26620560" } ] }, { "annotation": "Identification of novel protein SGSM2 which modulate small G protein (RAP and RAB)-mediated signaling pathway", "evidence": [ { "database": "RefSeq", "id": "NP_001091979", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001091979" }, { "database": "PubMed", "id": "17509819", "url": "https://glygen.org/publication/PubMed/17509819" } ] }, { "annotation": "Increased expression of SGSM2 is associated with estrogen receptor-positive breast cancer metastasis.", "evidence": [ { "database": "RefSeq", "id": "NP_001091979", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001091979" }, { "database": "PubMed", "id": "30744493", "url": "https://glygen.org/publication/PubMed/30744493" } ] }, { "annotation": "Possesses GTPase activator activity towards RAB32, RAB33B and RAB38 (PubMed:26620560, PubMed:21808068). Regulates the trafficking of melanogenic enzymes TYR, TYRP1 and DCT/TYRP2 to melanosomes in melanocytes by inactivating RAB32 and RAB38. Inhibits RAB32 and RAB38 activation both directly by promoting their GTPase activity and indirectly by disrupting the RAB9A-HPS4 interaction which is required for RAB32/38 activation (PubMed:26620560).", "evidence": [ { "database": "UniProtKB", "id": "O43147", "url": "https://www.uniprot.org/uniprot/O43147#function" }, { "database": "PubMed", "id": "26620560", "url": "https://glygen.org/publication/PubMed/26620560" }, { "database": "PubMed", "id": "21808068", "url": "https://glygen.org/publication/PubMed/21808068" } ] }, { "annotation": "RUTBC1 is a Tre2/Bub2/Cdc16 domain-containing protein that binds to Rab9A-GTP both in vitro and in cultured cells, but is not a GTPase-activating protein for Rab9A.", "evidence": [ { "database": "RefSeq", "id": "NP_001091979", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001091979" }, { "database": "PubMed", "id": "21808068", "url": "https://glygen.org/publication/PubMed/21808068" } ] }, { "annotation": "SGSM2 inhibits thyroid cancer progression by activating RAP1 and enhancing competitive RAS inhibition. Publication Status: Online-Only", "evidence": [ { "database": "RefSeq", "id": "NP_001091979", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001091979" }, { "database": "PubMed", "id": "35264562", "url": "https://glygen.org/publication/PubMed/35264562" } ] }, { "annotation": "The protein encoded by this gene is a GTPase activator with activity towards RAB32 and RAB33B, which are regulators of membrane trafficking. The encoded protein inactivates RAB32 and can bind RAB9A-GTP, a protein required for RAB32 activation. [provided by RefSeq, Oct 2016].", "evidence": [ { "database": "RefSeq", "id": "NP_001091979", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001091979" } ] }, { "annotation": "Weighted gene co-expression network analysis identifies specific modules and hub genes related to subsyndromal symptomatic depression.", "evidence": [ { "database": "RefSeq", "id": "NP_001091979", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001091979" }, { "database": "PubMed", "id": "30489189", "url": "https://glygen.org/publication/PubMed/30489189" } ] } ], "disease": [], "snv": [ { "evidence": [ { "id": "O43147", "database": "BioMuta", "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/O43147" } ], "glycoeffect": [], "start_pos": 521, "end_pos": 521, "subjects_tested": "0", "subjects_positive": "0", "frequency": "0.0", "sequence_org": "V", "sequence_mut": "M", "comment": "Somatic mutation passed 1 out of 6 filters: DB annot. (1).", "chr_id": "17", "chr_pos": "2372396", "ref_nt": "G", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "V521", "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" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] } ], "mutagenesis": [ { "start_pos": 803, "end_pos": 803, "sequence_org": "R", "sequence_mut": "A", "comment": "Loss of GTPase activator activity towards RAB32, RAB33B and RAB38.", "evidence": [ { "database": "UniProtKB", "id": "O43147", "url": "https://www.uniprot.org/uniprot/O43147" }, { "database": "PubMed", "id": "26620560", "url": "https://glygen.org/publication/PubMed/26620560" }, { "database": "PubMed", "id": "21808068", "url": "https://glygen.org/publication/PubMed/21808068" } ] } ], "expression_tissue": [ { "tissue": { "name": "Adult mammalian kidney", "namespace": "UBERON", "id": 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"namespace": "UBERON", "id": "0002107", "url": "http://purl.obolibrary.org/obo/UBERON_0002107" }, "score": "86.35", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000141258", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000141258" } ] }, { "tissue": { "name": "Prostate gland", "namespace": "UBERON", "id": "0002367", "url": "http://purl.obolibrary.org/obo/UBERON_0002367" }, "score": "98.24", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000141258", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000141258" } ] }, { "tissue": { "name": "Thoracic mammary gland", "namespace": "UBERON", "id": "0005200", "url": "http://purl.obolibrary.org/obo/UBERON_0005200" }, "score": "95.65", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000141258", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000141258" } ] } ], "expression_disease": [ { "significant": "Yes", "trend": "up", "name": "Prostate cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:10283", "evidence": [ { "database": "BioXpress", "id": "O43147", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O43147" } ], "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": 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"" }, { "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": 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Male", "description": "" }, { "id": "MIM:114480", "resource": "MIM", "url": "https://www.omim.org/entry/114480", "name": "Breast cancer", "description": "Breast cancer" } ] } ] }, { "significant": "No", "trend": "down", "name": "Thyroid cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:1781", "evidence": [ { "database": "BioXpress", "id": "O43147", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O43147" } ], "disease": [ { "disease_id": "DOID:1781", "recommended_name": { "id": "DOID:1781", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1781", "name": "thyroid cancer", "description": "An endocrine gland cancer located in the thryoid gland located in the neck below the thyroid cartilage." }, "synonyms": [ { "id": "DOID:1781", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1781", "name": "thyroid gland cancer", "description": "" }, { "id": "DOID:1781", "resource": "Disease Ontology", 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"https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O43147" } ], "disease": [ { "disease_id": "DOID:263", "recommended_name": { "id": "DOID:263", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:263", "name": "kidney cancer", "description": "A urinary system cancer that is located_in the kidney." }, "synonyms": [ { "id": "DOID:263", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:263", "name": "malignant neoplasm of kidney except pelvis", "description": "" }, { "id": "DOID:263", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:263", "name": "malignant tumour of kidney", "description": "" }, { "id": "DOID:263", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:263", "name": "renal cancer", "description": "" } ] } ] }, { "significant": "Yes", "trend": "up", "name": "Liver cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:3571", "evidence": [ { "database": "BioXpress", "id": "O43147", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O43147" } ], "disease": [ { "disease_id": "DOID:3571", "recommended_name": { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "liver cancer", "description": "A hepatobiliary system cancer that is located_in the liver." }, "synonyms": [ { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "Ca liver - primary", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "Resectable malignant neoplasm of Liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "hepatic cancer", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", 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"length": 1006, "header": "sp|O43147-1|SGSM2_HUMAN Isoform 1 of Small G protein signaling modulator 2 OS=Homo sapiens OX=9606 GN=SGSM2 PE=1 SV=4 CANONICAL=O43147-1" }, "isoforms": [ { "isoform_ac": "I3L1Y7-1", "url": "", "sequence": { "sequence": "MGSAEDAVKEKLLWNVKKEVQWRLASCIS", "length": 29, "header": "tr|I3L1Y7-1|I3L1Y7_HUMAN Computationally mapped isoform of Small G protein signaling modulator 2 OS=Homo sapiens OX=9606 GN=SGSM2 PE=4 SV=3 CANONICAL=O43147-1" }, "locus": { "chromosome": "17", "start_pos": 2361666, "end_pos": 2337689, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000572875.1", "url": "https://www.ensembl.org/id/ENST00000572875.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000459218.2", "url": "https://www.ensembl.org/id/ENSP00000459218.2" } ] } }, { "isoform_ac": "I3L361-1", "url": "", "sequence": { "sequence": "MEAVPGYLSLHQSAESLTLKWTPNQLMNGTLGDSELEKSVYWDYALVVPFSQVVCIHCHQQKSGGTLVLVSQDGIQRPPLHFPQGGHLLSFLSCL", "length": 95, "header": "tr|I3L361-1|I3L361_HUMAN Computationally mapped isoform of Small G protein signaling modulator 2 OS=Homo sapiens OX=9606 GN=SGSM2 PE=1 SV=3 CANONICAL=O43147-1" }, "locus": { "chromosome": "17", "start_pos": 2364997, "end_pos": 2364068, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000570431.1", "url": "https://www.ensembl.org/id/ENST00000570431.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000460205.2", "url": "https://www.ensembl.org/id/ENSP00000460205.2" } ] } }, { "isoform_ac": "I3NI18-1", "url": "", "sequence": { "sequence": "XMDFTDIIKFFNERAEHHDAQEILRIARDLVHKVLP", "length": 36, "header": "tr|I3NI18-1|I3NI18_HUMAN Computationally mapped isoform of Small G protein signaling modulator 2 OS=Homo sapiens OX=9606 GN=SGSM2 PE=4 SV=2 CANONICAL=O43147-1" }, "locus": { "chromosome": "17", "start_pos": 2380274, "end_pos": 2379168, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000572925.1", "url": "https://www.ensembl.org/id/ENST00000572925.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000461820.2", "url": "https://www.ensembl.org/id/ENSP00000461820.2" } ] } }, { "isoform_ac": "J3QSA2-1", "url": "", "sequence": { "sequence": "XYFCYRWFLLDFKRELLYEDVFAVWEVIWAARHISSEHFVLFIALALVEAYREIIRDNNMDFTDIIKFFNGTSWSSHPGCPEQRCGGPHLCPAHSWRVLRNPGGPSPKAGMSRI", "length": 114, "header": "tr|J3QSA2-1|J3QSA2_HUMAN Computationally mapped isoform of Small G protein signaling modulator 2 OS=Homo sapiens OX=9606 GN=SGSM2 PE=4 SV=1 CANONICAL=O43147-1" }, "locus": { "chromosome": "17", "start_pos": 2379336, "end_pos": 2377913, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000573851.1", "url": "https://www.ensembl.org/id/ENST00000573851.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000464593.1", "url": "https://www.ensembl.org/id/ENSP00000464593.1" } ] } }, { "isoform_ac": "O43147-1", "url": "", "sequence": { "sequence": "MGSAEDAVKEKLLWNVKKEVKQIMEEAVTRKFVHEDSSHIIALCGAVEACLLHQLRRRAAGFLRSDKMAALFTKVGKTCPVAGEICHKVQELQQQAEGRKPSGVSQEALRRQGSASGKAPALSPQALKHVWVRTALIEKVLDKVVQYLAENCSKYYEKEALLADPVFGPILASLLVGPCALEYTKLKTADHYWTDPSADELVQRHRIRGPPTRQDSPAKRPALGIRKRHSSGSASEDRLAACARECVESLHQNSRTRLLYGKNHVLVQPKEDMEAVPGYLSLHQSAESLTLKWTPNQLMNGTLGDSELEKSVYWDYALVVPFSQVVCIHCHQQKSGGTLVLVSQDGIQRPPLHFPQGGHLLSFLSCLENGLLPRGQLEPPLWTQQGKGKVFPKLRKRSSIRSVDMEEMGTGRATDYVFRIIYPGHRHEHNAGDMIEMQGFGPSLPAWHLEPLCSQGSSCLSCSSSSSPHATPSHCSCIPDRLPLRLLCESMKRQIVSRAFYGWLAHCRHLSTVRTHLSALVHHSVIPPDRPPGASAGLTKDVWSKYQKDKKNYKELELLRQVYYGGIEHEIRKDVWPFLLGHYKFGMSKKEMEQVDAVVAARYQQVLAEWKACEVVVRQREREAHPATRTKFSSGSSIDSHVQRLIHRDSTISNDVFISVDDLEPPEPQDPEDSRPKPEQEAGPGTPGTAVVEQQHSVEFDSPDSGLPSSRNYSVASGIQSSLDEGQSVGFEEEDGGGEEGSSGPGPAAHTLREPQDPSQEKPQAGELEAGEELAAVCAAAYTIELLDTVALNLHRIDKDVQRCDRNYWYFTPPNLERLRDVMCSYVWEHLDVGYVQGMCDLLAPLLVTLDNDQLAYSCFSHLMKRMSQNFPNGGAMDTHFANMRSLIQILDSELFELMHQNGDYTHFYFCYRWFLLDFKRELLYEDVFAVWEVIWAARHISSEHFVLFIALALVEAYREIIRDNNMDFTDIIKFFNERAEHHDAQEILRIARDLVHKVQMLIENK", "length": 1006, "header": "sp|O43147-1|SGSM2_HUMAN Isoform 1 of Small G protein signaling modulator 2 OS=Homo sapiens OX=9606 GN=SGSM2 PE=1 SV=4 CANONICAL=O43147-1" }, "locus": { "chromosome": "17", "start_pos": 2379517, "end_pos": 2337689, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000426855.6", "url": "https://www.ensembl.org/id/ENST00000426855.6" }, { "database": "Ensembl Peptide", "id": "ENSP00000415107.2", "url": "https://www.ensembl.org/id/ENSP00000415107.2" } ] } }, { "isoform_ac": "O43147-2", "url": "", "sequence": { "sequence": "MGSAEDAVKEKLLWNVKKEVKQIMEEAVTRKFVHEDSSHIIALCGAVEACLLHQLRRRAAGFLRSDKMAALFTKVGKTCPVAGEICHKVQELQQQAEGRKPSGVSQEALRRQGSASGKAPALSPQALKHVWVRTALIEKVLDKVVQYLAENCSKYYEKEALLADPVFGPILASLLVGPCALEYTKLKTADHYWTDPSADELVQRHRIRGPPTRQDSPAKRPALGIRKRHSSGSASEDRLAACARECVESLHQNSRTRLLYGKNHVLVQPKEDMEAVPGYLSLHQSAESLTLKWTPNQLMNGTLGDSELEKSVYWDYALVVPFSQVVCIHCHQQKSGGTLVLVSQDGIQRPPLHFPQGGHLLSFLSCLENGLLPRGQLEPPLWTQQGKGKVFPKLRKRSSIRSVDMEEMGTGRATDYVFRIIYPGHRHEHITINYHHLAASRAASVDDDEEEEDKLHAMLSMICSRNLTAPNPMKDAGDMIEMQGFGPSLPAWHLEPLCSQGSSCLSCSSSSSPHATPSHCSCIPDRLPLRLLCESMKRQIVSRAFYGWLAHCRHLSTVRTHLSALVHHSVIPPDRPPGASAGLTKDVWSKYQKDKKNYKELELLRQVYYGGIEHEIRKDVWPFLLGHYKFGMSKKEMEQVDAVVAARYQQVLAEWKACEVVVRQREREAHPATRTKFSSGSSIDSHVQRLIHRDSTISNDVFISVDDLEPPEPQDPEDSRPKPEQEAGPGTPGTAVVEQQHSVEFDSPDSGLPSSRNYSVASGIQSSLDEGQSVGFEEEDGGGEEGSSGPGPAAHTLREPQDPSQEKPQAGELEAGEELAAVCAAAYTIELLDTVALNLHRIDKDVQRCDRNYWYFTPPNLERLRDVMCSYVWEHLDVGYVQGMCDLLAPLLVTLDNDQLAYSCFSHLMKRMSQNFPNGGAMDTHFANMRSLIQILDSELFELMHQNGDYTHFYFCYRWFLLDFKRELLYEDVFAVWEVIWAARHISSEHFVLFIALALVEAYREIIRDNNMDFTDIIKFFNERAEHHDAQEILRIARDLVHKVQMLIENK", "length": 1051, "header": "sp|O43147-2|SGSM2_HUMAN Isoform 2 of Small G protein signaling modulator 2 OS=Homo sapiens OX=9606 GN=SGSM2 PE=1 SV=4 CANONICAL=O43147-1" }, "locus": { "chromosome": "17", "start_pos": 2379517, "end_pos": 2337689, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000268989.8", "url": "https://www.ensembl.org/id/ENST00000268989.8" }, { "database": "Ensembl Peptide", "id": "ENSP00000268989.3", "url": "https://www.ensembl.org/id/ENSP00000268989.3" } ] } }, { "isoform_ac": "O43147-3", "url": "", "sequence": { "sequence": "MLSMICSRNLTAPNPMKDAGDMIEMQGFGPSLPAWHLEPLCSQGSSCLSCSSSSSPHATPSHCSCIPDRLPLRLLCESMKRQIVSRAFYGWLAHCRHLSTVRTHLSALVHHSVIPPDRPPGASAGLTKDVWSKYQKDKKVPTLGFQGHRSRGWGGQE", "length": 157, "header": "sp|O43147-3|SGSM2_HUMAN Isoform 3 of Small G protein signaling modulator 2 OS=Homo sapiens OX=9606 GN=SGSM2 PE=1 SV=4 CANONICAL=O43147-1" }, "locus": {} }, { "isoform_ac": "O43147-5", "url": "", "sequence": { "sequence": "MGSAEDAVKEKLLWNVKKEVKQIMEEAVTRKFVHEDSSHIIALCGAVEACLLHQLRRRAAGFLRSDKMAALFTKVGKTCPVAGEICHKVQELQQQAEGRKPSGVSQEALRRQGSASGKAPALSPQALKHVWVRTALIEKVLDKVVQYLAENCSKYYEKEALLADPVFGPILASLLVGPCALEYTKLKTADHYWTDPSADELVQRHRIRGPPTRQDSPAKRPALGIRKRHSSGSASEDRLAACARECVESLHQNSRTRLLYGKNHVLVQPKEDMEAVPGYLSLHQSAESLTLKWTPNQLMNGTLGDSELEKSVYWDYALVVPFSQVVCIHCHQQKSGGTLVLVSQDGIQRPPLHFPQGGHLLSFLSCLENGLLPRGQLEPPLWTQQGKGKVFPKLRKRSSIRSVDMEEMGTGRATDYVFRIIYPGHRHEHNAGDMIEMQGFGPSLPAWHLEPLCSQGSSCLSCSSSSSPHATPSHCSCIPDRLPLRLLCESMKRQIVSRAFYGWLAHCRHLSTVRTHLSALVHHSVIPPDRPPGASAGLTKDVWSKYQKDKKNYKELELLRQVYYGGIEHEIRKDVWPFLLGHYKFGMSKKEMEQVDAVVAARYQQVLAEWKACEVVVRQREREAHPATRTKFSSGSSIDSHVQRLIHRDSTISNDVFISVDDLEPPEPQDPEDSRPKPEQEAGPGTPGTAVVEQQHSVEFDSPDSGLPSSRNYSVASGIQSSLDEGQSVGFEEEDGGGEEGSSGPGPAAHTLREPQDPSQEKPQAGELEAGEELAAVCAAAYTIELLDTVALNLHRIDKDVQRCDRNYWYFTPPNLERLRDVMCSYVWEHLDVGYVQGMCDLLAPLLVTLDNDQLAYSCFSHLMKRMSQNFPNGGAMDTHFANMRSLIQILDSELFELMHQNGDYTHFYFCYRWFLLDFKRELLYEDVFAVWEVIWAARHISSEHFVLFIALALVEAYREIIRDNNMDFTDIIKFFNGTSLKTTCKK", "length": 987, "header": "sp|O43147-5|SGSM2_HUMAN Isoform 5 of Small G protein signaling modulator 2 OS=Homo sapiens OX=9606 GN=SGSM2 PE=1 SV=4 CANONICAL=O43147-1" }, "locus": { "chromosome": "17", "start_pos": 2380293, "end_pos": 2337689, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000574563.5", "url": "https://www.ensembl.org/id/ENST00000574563.5" }, { "database": "Ensembl Peptide", "id": "ENSP00000459126.1", "url": "https://www.ensembl.org/id/ENSP00000459126.1" } ] } }, { "isoform_ac": "V9GYD2-1", "url": "", "sequence": { "sequence": "LQQQAEGRKPSGVSQEALRRQGSASGKAPALSPQALKHVWVRTALIEKVLDKVVQYLAENCSGTLCLGIH", "length": 70, "header": "tr|V9GYD2-1|V9GYD2_HUMAN Computationally mapped isoform of Small G protein signaling modulator 2 OS=Homo sapiens OX=9606 GN=SGSM2 PE=1 SV=1 CANONICAL=O43147-1" }, "locus": { "chromosome": "17", "start_pos": 2363013, "end_pos": 2361777, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000574650.1", "url": "https://www.ensembl.org/id/ENST00000574650.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000476637.1", "url": "https://www.ensembl.org/id/ENSP00000476637.1" } ] } }, { "isoform_ac": "V9GYJ0-1", "url": "", "sequence": { "sequence": "MGSAEDAVKEKLLWNVKKEVKQIMEEAVTRKFVHEDSSHIIALCGAVEACLLHQLRRRAAGFLRSDKMAALFTKVGKTCPVAGEICHKVQELQQQAEGRKPSGVSQEALRRQGSASGKAPALSPQALKHVWVRTALIEKVLDKVVQYLAENCSKYYEKEALLADPVFGPILASLLGEPESTGTVGTGQVLREHRLGWLSLSPQWDPVPWNTLSSRQPITTGLTPLLMSWSSGTASGVHLLARTPLQSAQPWGSGNGTQAAARRRTGWLPVPASVWSPCTRTHGRGCSMARTTCWCSRRRIWRRSLATSPCTSLQRA", "length": 316, "header": "tr|V9GYJ0-1|V9GYJ0_HUMAN Computationally mapped isoform of Small G protein signaling modulator 2 OS=Homo sapiens OX=9606 GN=SGSM2 PE=1 SV=1 CANONICAL=O43147-1" }, "locus": { "chromosome": "17", "start_pos": 2364116, "end_pos": 2337689, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000573062.5", "url": "https://www.ensembl.org/id/ENST00000573062.5" }, { "database": "Ensembl Peptide", "id": "ENSP00000476800.1", "url": "https://www.ensembl.org/id/ENSP00000476800.1" } ] } } ], "glycosylation": [], "phosphorylation": [ { "start_pos": 402, "end_pos": 402, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "Phosphoserine", "evidence": [ { "database": "UniProtKB", "id": "O43147", "url": "https://www.uniprot.org/uniprot/O43147" } ], "site_lbl": "Ser402" } ], "glycation": [], "keywords": [], "publication": [ { "title": "Identification of three novel proteins (SGSM1, 2, 3) which modulate small G protein (RAP and RAB)-mediated signaling pathway.", "journal": "Genomics", "date": "2007", "authors": "Yang H, Sasaki T, Minoshima S, Shimizu N", "evidence": [ { "database": "UniProtKB", "id": "O43147", "url": "https://www.uniprot.org/uniprot/O43147" }, { "database": "RefSeq", "id": "NP_001091979", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001091979" } ], "reference": [ { "type": "PubMed", "id": "17509819", "url": "https://glygen.org/publication/PubMed/17509819" } ] }, { "title": "RUTBC1 protein, a Rab9A effector that activates GTP hydrolysis by Rab32 and Rab33B proteins.", "journal": "The Journal of biological chemistry", "date": "2011", "authors": "Nottingham RM, Ganley IG, Barr FA, Lambright DG, Pfeffer SR", "evidence": [ { "database": "UniProtKB", "id": "O43147", "url": "https://www.uniprot.org/uniprot/O43147" }, { "database": "RefSeq", "id": "NP_001091979", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001091979" } ], "reference": [ { "type": "PubMed", "id": "21808068", "url": "https://glygen.org/publication/PubMed/21808068" } ] }, { "title": "RUTBC1 Functions as a GTPase-activating Protein for Rab32/38 and Regulates Melanogenic Enzyme Trafficking in Melanocytes.", "journal": "The Journal of biological chemistry", "date": "2016", "authors": "Marubashi S, Shimada H, Fukuda M, Ohbayashi N", "evidence": [ { "database": "UniProtKB", "id": "O43147", "url": "https://www.uniprot.org/uniprot/O43147" }, { "database": "RefSeq", "id": "NP_001091979", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001091979" } ], "reference": [ { "type": "PubMed", "id": "26620560", "url": "https://glygen.org/publication/PubMed/26620560" } ] }, { "title": "Weighted gene co-expression network analysis identifies specific modules and hub genes related to subsyndromal symptomatic depression.", "journal": "The world journal of biological psychiatry : the official journal of the World Federation of Societies of Biological Psychiatry", "date": "2020", "authors": "Geng R, Li Z, Yu S, Yuan C, Hong W, Wang Z, Wang Q, Yi Z, Fang Y", "evidence": [ { "database": "RefSeq", "id": "NP_001091979", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001091979" } ], "reference": [ { "type": "PubMed", "id": "30489189", "url": "https://glygen.org/publication/PubMed/30489189" } ] }, { "title": "Small G protein signalling modulator 2 (SGSM2) is involved in oestrogen receptor-positive breast cancer metastasis through enhancement of migratory cell adhesion via interaction with E-cadherin.", "journal": "Cell adhesion & migration", "date": "2019", "authors": "Lin JH, Lee WJ, Wu HC, Wu CH, Chen LC, Huang CC, Chang HL, Cheng TC, Chang HW, Ho CT, Tu SH, Ho YS", "evidence": [ { "database": "RefSeq", "id": "NP_001091979", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001091979" } ], "reference": [ { "type": "PubMed", "id": "30744493", "url": "https://glygen.org/publication/PubMed/30744493" } ] }, { "title": "SGSM2 inhibits thyroid cancer progression by activating RAP1 and enhancing competitive RAS inhibition.", "journal": "Cell death & disease", "date": "2022", "authors": "Su X, Chen D, Zhu L, Jia H, Cai J, Li P, Han B, Wang D, Li H, Fan J, Gu M, Zhou Y, Guan H, Wei W", "evidence": [ { "database": "RefSeq", "id": "NP_001091979", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001091979" } ], "reference": [ { "type": "PubMed", "id": "35264562", "url": "https://glygen.org/publication/PubMed/35264562" } ] } ], "pathway": [ { "id": "hsa:9905", "name": "", "url": "https://www.genome.jp/dbget-bin/get_linkdb?-t+pathway+hsa:9905", "resource": "KEGG Pathway" } ], "orthologs": [ { "uniprot_canonical_ac": "D3ZW66-1", "protein_name": "Small G protein signaling modulator 2", "gene_name": "Sgsm2", "tax_id": 10116, "organism": "Rattus norvegicus", "sequence": { "sequence": "MGSAEDAVKEKLLWNVKKEVKQIMEEAVTRKFVHEDSSHIIALCGAVEACLLHQLRRRAAGFLRSDKMAALFTKVGKTCPVAGDICHKVQELQQQAEGRRPSGGSQEALRKQGSSSGKTTALSPQALKHIWVRTALMEKVLDRVVQYLAENCSKYYEKEALLADPVFGPILACLLVGPCALEYTKLKTADHYWTDPSADELVQRHRIRGPPNRQDSPAKRPALGIRKRHSSGSASEDRLAACAREYVESLHQNSRTRLLYGKNNVLVQPKEDMEAVPGYLSLHQSAENLTLKWTPNQLMNGTLGDSELEKSVYWDYALVVPFSQIVCVHCHQQKSGGTLVLVSQDGIQRPPLHFPQGGHLLSFLSCLENGLLPRGQLEPPLWTQQGKGKVFPKLRKRSSIRSIDAEELGVGRATDYVFRIIYPGHRHEHNAGDMIEMQGFGPSLTAWHLEPLCSQGSSCLSCPSSSSPYAPPSHCSCTPDRLPLRLLCESMKRQIVSRAFYGWLAYCRHLSTVRTHLSALVHHNIIPPDRPPGASGGLTKDVWSKYQKDKKNYKELELLRQVYYGGVEHEIRKDVWPFLLGHYKFGMSKKEMEQVDAAVAARYQQVLAEWKACEVVVRQREREAHPATLTKFSSGSSIDSHVQRLVHRDSTISNDVFISVDDLEPPGPQDPEDSKPKQEREPGAGTPGTAAAEQQSVEFESPDSGLPSSRNYSVASGIQSSLDEAQSVGFEEDGAGEEGSEEPATAAHTFLGPHDPDQEKLAPASELEGGEELTAVCAATYTIELLDTVALNLHRIDKDVQRCDRNYWYFTTPNLERLRDIMCSYVWEHLDMGYVQGMCDLLAPLLVILDNDQLAYSCFSHLMKRMSQNFPNGGAMDTHFANMRSLIQILDSELFELMHQNGDYTHFYFCYRWFLLDFKRELLYEEVFAVWEVIWAARHISSEHFVLFIALALVEAYREIIRDNNMDFTDIIKFFNERAERHDAQEILRIARDLVHKVQMLIDNK", "length": 1005 }, "evidence": [ { "id": "45932320", "url": "http://www.informatics.jax.org/homology/45932320", "database": "MGI" } ], "common_name": "Rat" }, { "uniprot_canonical_ac": "Q80U12-1", "protein_name": "Small G protein signaling modulator 2", "gene_name": "Sgsm2", "tax_id": 10090, "organism": "Mus musculus", "sequence": { "sequence": "MGSAEDAVKEKLLWNVKKEVKQIMEEAVTRKFVHEDSSHIIALCGAVEACLLHQLRRRAAGFLRSDKMAALFTKVGKTCPVAEDICHKVQELQQQAEGRKPSGGSQEALRKQGSTGGKAPALSPQALKHIWVRTALMEKVLDRVVQYLAENCSKYYEKEALLADPVFGPILACLLVGPCALEYTKLKTADHYWTDPSADELVQRHRIRGPPNRQDSPAKRPALGIRKRHSSGSASEDRLAACAREYVESLHQNSRTRLLYGKNNVLVQPKEDMEAVPGYLSLHQSAENLTLKWTPNQLMNGTLGDSELEKSVYWDYALVVPFSQIVCIHCHQQKSGGTLVLVSQDGIQRPPLHFPQGGHLLSFLSCLENGLLPRGQLEPPLWTQQGKGKVFPKLRKRSSIRSIDVEELGVGRATDYVFRIIYPGHRHEHNAGDMIEMQGFGPSLTAWHLEPLCSQGSSCLSCSSSSSPYATPSHCSCIPDRLPLRLLCESMKRQIVSRAFYGWLAYCRHLSTVRTHLSALVHHNIIPPDRPPGASGGLTKDVWSKYQKDEKNYKELELLRQVYYGGVEHEIRKDVWPFLLGHYKFGMSKKEMEQVDTAVAARYQQVLAEWKACEVVVRQREREAHPATLTKFSSGSSIDSHVQRLVHRDSTISNDVFISVDDLEPSGPQDLEDSKPKREQEPGAGTPGIAAAEQQSVEFDSPDSGLPSSRNYSVASGIQSSLDEAQSVGFEDDGAGEDGSEGPATAAHTFPGPHDPGQETLAPASELEAGQELAAVCAAAYTIELLDTVALNLHRIDKDVQRCDRNYWYFTTSNLERLRDIMCSYVWEHLDMGYVQGMCDLLAPLLVILDNDQLAYSCFSHLMKRMGQNFPSGGAMDSHFANMRSLIQILDSELFELMHQNGDYTHFYFCYRWFLLDFKRELLYEDVFAVWEVIWAARRISSEHFVLFIALALVEAYREIIRDNNMDFTDIIKFFNERAERHDAQEILRIARDLVHKVQMLIDNK", 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"database": "UniProtKB", "id": "O43147", "url": "https://www.uniprot.org/uniprot/O43147" } ], "pmid": "" }, { "name": "melanosome", "id": "GO:0042470", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042470", "evidence": [ { "database": "UniProtKB", "id": "O43147", "url": "https://www.uniprot.org/uniprot/O43147" } ], "pmid": "" } ] }, { "name": "Biological Process", "total": 2, "go_terms": [ { "name": "positive regulation of GTPase activity", "id": "GO:0043547", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043547", "evidence": [ { "database": "UniProtKB", "id": "O43147", "url": "https://www.uniprot.org/uniprot/O43147" } ], "pmid": "" }, { "name": "late endosome to Golgi transport", "id": "GO:0034499", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0034499", "evidence": [ { "database": "UniProtKB", "id": "O43147", "url": "https://www.uniprot.org/uniprot/O43147" } ], "pmid": "" } ] } ] }, "pro_annotation": [], "site_annotation": [ { "start_pos": 151, "end_pos": 153, "annotation": 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