AutismKB 2.0

Annotation Details for ACSM3


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Basic Information Top
Gene Symbol:ACSM3 ( SA,SAH )
Gene Full Name: acyl-CoA synthetase medium-chain family member 3
Band: 16p12.3
Quick LinksEntrez ID:6296; OMIM: 145505; Uniprot ID:ACSM3_HUMAN; ENSEMBL ID: ENSG00000005187; HGNC ID: 10522
Relate to Another Database: SFARIGene; denovo-db
Gene Ontology Top
GO ID Evidence Qualifier GO_term References
GO:0005575ND-cellular_component-
GO:0005759IBA-mitochondrial matrix-
GO ID Evidence Qualifier GO_term References
GO:0003674ND-molecular_function-
GO:0003996IBA-acyl-CoA ligase activity-
GO:0004321IBA-fatty-acyl-CoA synthase activity-
GO:0005524IEA-ATP binding-
GO:0015645IBA-fatty acid ligase activity-
GO:0046872IEA-metal ion binding-
GO:0047760IEA-butyrate-CoA ligase activity-
GO ID Evidence Qualifier GO_term References
GO:0006633IBA-fatty acid biosynthetic process-
GO:0006637IBA-acyl-CoA metabolic process-
GO:0008217NAS-regulation of blood pressure7907320
GO:0042632NAS-cholesterol homeostasis15361761
Protein-Protein Interaction Top
Gene Symbol Interactant Interaction ID References Description
EHMT2ACSM311220320084102 Co-crystal Structure
EHMT2ACSM311612320084102 Co-crystal Structure
No data
No data
AlzGene, PDGene and SZGene Top
Animal Model Top
  • MGI ID: MGI:99538
  • Data Attributes: MGI curated and HomoloGene calculated
No data
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