AutismKB 2.0

Annotation Details for ABCA3


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Basic Information Top
Gene Symbol:ABCA3 ( ABC-C,ABC3,EST111653,LBM180,MGC166979,MGC72201,SMDP3 )
Gene Full Name: ATP-binding cassette, sub-family A (ABC1), member 3
Band: 16p13.3
Quick LinksEntrez ID:21; OMIM: 601615; Uniprot ID:ABCA3_HUMAN; ENSEMBL ID: ENSG00000167972; HGNC ID: 33
Relate to Another Database: SFARIGene; denovo-db
Gene Ontology Top
GO ID Evidence Qualifier GO_term References
GO:0005615IDA-extracellular space22664934
GO:0005886IDA-plasma membrane11718719
GO:0016020TAS-membrane9027511
GO:0016021IEA-integral component of membrane-
GO:0043231IBA-intracellular membrane-bounded organelle-
GO:0097208IDA-alveolar lamellar body11718719
GO:0097232TAS-lamellar body membrane-
GO:0097233IEA-alveolar lamellar body membrane-
GO ID Evidence Qualifier GO_term References
GO:0005215TAS-transporter activity9027511
GO:0005319TAS-lipid transporter activity-
GO:0005524IEA-ATP binding-
GO:0042626TAS-ATPase activity, coupled to transmembrane movement of substances9027511
GO ID Evidence Qualifier GO_term References
GO:0006810IDA-transport15531465
GO:0006869IBA-lipid transport-
GO:0042493TAS-response to drug8706931
GO:0044267TAS-cellular protein metabolic process-
GO:0051384IEA-response to glucocorticoid-
GO:0055085TAS-transmembrane transport-
Protein-Protein Interaction Top
AlzGene, PDGene and SZGene Top
Animal Model Top
  • MGI ID: MGI:1351617
  • 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