AutismKB 2.0

Annotation Details for ABCD4


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Basic Information Top
Gene Symbol:ABCD4 ( ABC41,EST352188,P70R,P79R,PMP69,PXMP1L )
Gene Full Name: ATP-binding cassette, sub-family D (ALD), member 4
Band: 14q24.3
Quick LinksEntrez ID:5826; OMIM: 603214; Uniprot ID:ABCD4_HUMAN; ENSEMBL ID: ENSG00000119688; HGNC ID: 68
Relate to Another Database: SFARIGene; denovo-db
Gene Ontology Top
GO ID Evidence Qualifier GO_term References
GO:0005765TAS-lysosomal membrane-
GO:0005777IDA-peroxisome9302272
GO:0005778IEA-peroxisomal membrane-
GO:0005789IEA-endoplasmic reticulum membrane-
GO:0016021NAS-integral component of membrane9266848
GO:0043190NAS-ATP-binding cassette (ABC) transporter complex9266848
GO ID Evidence Qualifier GO_term References
GO:0005524NAS-ATP binding9266848
GO:0042626NAS-ATPase activity, coupled to transmembrane movement of substances9266848
GO:0042626TAS-ATPase activity, coupled to transmembrane movement of substances-
GO ID Evidence Qualifier GO_term References
GO:0009235IMP-cobalamin metabolic process22922874
GO:0009235TAS-cobalamin metabolic process-
GO:0055085NAS-transmembrane transport9266848
Protein-Protein Interaction Top
Gene Symbol Interactant Interaction ID References Description
ABCD4XRCC610882216169070 Two-hybrid
ABCD4XRCC611178416169070 Two-hybrid
DLEU1ABCD411558916169070 Two-hybrid
DLEU1ABCD411178416169070 Two-hybrid
PEA15ABCD411423016169070 Two-hybrid
PEA15ABCD411178416169070 Two-hybrid
No data
No data
AlzGene, PDGene and SZGene Top
Animal Model Top
  • MGI ID: MGI:1349217
  • 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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