AutismKB 2.0

Annotation Details for GM2A


View Evidences View Variants View Annotations
Basic Information Top
Gene Symbol:GM2A ( SAP-3 )
Gene Full Name: GM2 ganglioside activator
Band: 5q33.1
Quick LinksEntrez ID:2760; OMIM: 613109; Uniprot ID:SAP3_HUMAN; ENSEMBL ID: ENSG00000196743; HGNC ID: 4367
Relate to Another Database: SFARIGene; denovo-db
Gene Ontology Top
GO ID Evidence Qualifier GO_term References
GO:0005576TAS-extracellular region-
GO:0005739IEA-mitochondrion-
GO:0005889IEA-hydrogen:potassium-exchanging ATPase complex-
GO:0009898IEA-cytoplasmic side of plasma membrane-
GO:0035578TAS-azurophil granule lumen-
GO:0043202TAS-lysosomal lumen-
GO:0045179IEA-apical cortex-
GO:0070062IDA-extracellular exosome19056867
GO ID Evidence Qualifier GO_term References
GO:0005319IEA-lipid transporter activity-
GO:0016004IEA-phospholipase activator activity-
GO:0030290TAS-sphingolipid activator protein activity-
GO:0032428IEA-beta-N-acetylgalactosaminidase activity-
GO ID Evidence Qualifier GO_term References
GO:0006687TAS-glycosphingolipid metabolic process-
GO:0006689IEA-ganglioside catabolic process-
GO:0006869IEA-lipid transport-
GO:0007611IEA-learning or memory-
GO:0009313IEA-oligosaccharide catabolic process-
GO:0019915IEA-lipid storage-
GO:0043312TAS-neutrophil degranulation-
GO:0050885IEA-neuromuscular process controlling balance-
GO:0051345IEA-positive regulation of hydrolase activity-
Protein-Protein Interaction Top
Gene Symbol Interactant Interaction ID References Description
HEXAGM2A1093229217013 Co-purification
HEXAGM2A1090229217013 Co-purification
No data
No data
AlzGene, PDGene and SZGene Top
Animal Model Top
  • MGI ID: MGI:95762
  • Data Attributes: MGI curated and HomoloGene calculated
No data
No data

Simple Query:


  (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