AutismKB 2.0

Annotation Details for SGSM1


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Basic Information Top
Gene Symbol:SGSM1 ( KIAA1941,MGC133298,RUTBC2 )
Gene Full Name: small G protein signaling modulator 1
Band: 22q11.23
Quick LinksEntrez ID:129049; OMIM: 611417; Uniprot ID:SGSM1_HUMAN; ENSEMBL ID: ENSG00000167037; HGNC ID: 29410
Relate to Another Database: SFARIGene; denovo-db
Gene Ontology Top
GO ID Evidence Qualifier GO_term References
GO:0005737ISS-cytoplasm-
GO:0005794IEA-Golgi apparatus-
GO:0005829IDA-cytosol22637480
GO:0012505IBA-endomembrane system-
GO:0030659IDA-cytoplasmic vesicle membrane22637480
GO:0030659ISS-cytoplasmic vesicle membrane-
GO ID Evidence Qualifier GO_term References
GO:0005096IDA-GTPase activator activity22637480
GO:0017137IPI-Rab GTPase binding22637480
GO ID Evidence Qualifier GO_term References
GO:0006886IBA-intracellular protein transport-
GO:0031338IBA-regulation of vesicle fusion-
GO:0090630IBA-activation of GTPase activity-
Protein-Protein Interaction Top
AlzGene, PDGene and SZGene Top
Animal Model Top
  • MGI ID: MGI:107320
  • Data Attributes: MGI curated and HomoloGene calculated
No data
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  (e.g. CHD8)

Syndromic Genes

Non-syndromic Genes

AutismKB Statistics

  • Studies: 1,036
  • Genes: 1,379
  • CNVs/SVs: 5,420
  • SNVs/Indels: 11,669
  • de novo Mutations: 5,669
  • Mosaics: 789
  • Linkage Regions: 172
  • Paper Collected: 6/30/2018
  • Last Update: 8/26/2018