SGSM2

SGSM2
Identifiers
Aliases	SGSM2 , RUTBC1, small G protein signaling modulator 2
External IDs	OMIM: 611418; MGI: 2144695; HomoloGene: 14780; GeneCards: SGSM2; OMA:SGSM2 - orthologs
Gene location (Human) Chr. Chromosome 17 (human) [1] Band 17p13.3 Start 2,337,498 bp [1] End 2,381,058 bp [1]
Gene location (Mouse) Chr. Chromosome 11 (mouse) [2] Band 11|11 B5 Start 74,740,087 bp [2] End 74,787,886 bp [2]
RNA expression pattern Bgee Human Mouse (ortholog) Top expressed in pancreatic ductal cell tail of epididymis endothelial cell pituitary gland corpus epididymis anterior pituitary right frontal lobe amygdala nucleus accumbens cingulate gyrus Top expressed in dentate gyrus of hippocampal formation granule cell superior frontal gyrus primary visual cortex median eminence arcuate nucleus subiculum anterior amygdaloid area globus pallidus olfactory tubercle primary motor cortex More reference expression data BioGPS n/a
Gene ontology Molecular function GTPase activator activity Cellular component endomembrane system cytoplasm melanosome Biological process late endosome to Golgi transport positive regulation of GTPase activity activation of GTPase activity regulation of vesicle fusion intracellular protein transport Sources:Amigo / QuickGO
Orthologs Species Human Mouse Entrez 9905 97761 Ensembl ENSG00000141258 ENSMUSG00000038351 UniProt O43147 Q80U12 RefSeq (mRNA) NM_001098509 NM_014853 NM_001346700 NM_197943 NM_001374688 RefSeq (protein) NP_001091979 NP_001333629 NP_055668 NP_922934 NP_001361617 Location (UCSC) Chr 17: 2.34 – 2.38 Mb Chr 11: 74.74 – 74.79 Mb PubMed search [3] [4]
Wikidata
View/Edit Human View/Edit Mouse

Small G protein signaling modulator 2 is a protein that in humans is encoded by the SGSM2 gene. ^{[5] [6]}

Clinical relevance

In a recent genome-wide association study, this gene has been associated with fasting glucose traits, type 2 diabetes and obesity. ^[7]

References

1. GRCh38: Ensembl release 89: ENSG00000141258 – Ensembl, May 2017
2. GRCm38: Ensembl release 89: ENSMUSG00000038351 – Ensembl, May 2017
3. "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
4. "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
5. Yang, H; et al. (2007). "Identification of three novel proteins (SGSM1, 2, 3) which modulate small G protein (RAP and RAB)-mediated signaling pathway". Genomics. 90 (2): 249–260. doi: 10.1016/j.ygeno.2007.03.013 . PMID   17509819.
6. "Entrez Gene: small G protein signaling modulator 2".
7. Strawbridge, RJ; et al. (2011-08-26). "Genome-Wide Association Identifies Nine Common Variants Associated With Fasting Proinsulin Levels and Provides New Insights Into the Pathophysiology of Type 2 Diabetes". Diabetes. 60 (10): 2624–34. doi:10.2337/db11-0415. PMC   3178302 . PMID   21873549.

Further reading

• Stelzl U, Worm U, Lalowski M, et al. (2005). "A human protein-protein interaction network: a resource for annotating the proteome". Cell. 122 (6): 957–68. doi: 10.1016/j.cell.2005.08.029 . hdl: 11858/00-001M-0000-0010-8592-0 . PMID   16169070.
• Vasan RS, Glazer NL, Felix JF, et al. (2009). "Genetic variants associated with cardiac structure and function: a meta-analysis and replication of genome-wide association data". JAMA. 302 (2): 168–78. doi:10.1001/jama.2009.978-a. PMC   2975567 . PMID   19584346.
• Ishikawa K, Nagase T, Nakajima D, et al. (1997). "Prediction of the coding sequences of unidentified human genes. VIII. 78 new cDNA clones from brain which code for large proteins in vitro". DNA Res. 4 (5): 307–13. doi: 10.1093/dnares/4.5.307 . PMID   9455477.
• Yang H; Sasaki T; Minoshima S; Shimizu N (2007). "Identification of three novel proteins (SGSM1, 2, 3) which modulate small G protein (RAP and RAB)-mediated signaling pathway". Genomics. 90 (2): 249–60. doi: 10.1016/j.ygeno.2007.03.013 . PMID   17509819.
• Ishibashi K; Kanno E; Itoh T; Fukuda M (2009). "Identification and characterization of a novel Tre-2/Bub2/Cdc16 (TBC) protein that possesses Rab3A-GAP activity". Genes Cells. 14 (1): 41–52. doi: 10.1111/j.1365-2443.2008.01251.x . PMID   19077034.