AutismKB 2.0

Annotation Details for ABCC5


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Basic Information Top
Gene Symbol:ABCC5 ( ABC33,DKFZp686C1782,EST277145,MOAT-C,MOATC,MRP5,SMRP,pABC11 )
Gene Full Name: ATP-binding cassette, sub-family C (CFTR/MRP), member 5
Band: 3q27.1
Quick LinksEntrez ID:10057; OMIM: 605251; Uniprot ID:MRP5_HUMAN; ENSEMBL ID: ENSG00000114770; HGNC ID: 56
Relate to Another Database: SFARIGene; denovo-db
Gene Ontology Top
GO ID Evidence Qualifier GO_term References
GO:0005886TAS-plasma membrane-
GO:0005887TAS-integral component of plasma membrane9827529
GO:0016020IDA-membrane15297306
GO ID Evidence Qualifier GO_term References
GO:0005524IEA-ATP binding-
GO:0008514TAS-organic anion transmembrane transporter activity-
GO:0042626IBA-ATPase activity, coupled to transmembrane movement of substances-
GO:0043225TAS-ATPase-coupled anion transmembrane transporter activity-
GO ID Evidence Qualifier GO_term References
GO:0006810TAS-transport9827529
GO:0015711IEA-organic anion transport-
GO:0030213TAS-hyaluronan biosynthetic process-
GO:0055085IBA-transmembrane transport-
GO:0055085TAS-transmembrane transport-
GO:0099133IEA-ATP hydrolysis coupled anion transmembrane transport-
Protein-Protein Interaction Top
AlzGene, PDGene and SZGene Top
Animal Model Top
  • MGI ID: MGI:1351644
  • 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


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