AutismKB 2.0

Annotation Details for PEX5L


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Basic Information Top
Gene Symbol:PEX5L ( PEX5R,PXR2,PXR2B )
Gene Full Name: peroxisomal biogenesis factor 5-like
Band: 3q26.33
Quick LinksEntrez ID:51555; OMIM: 611058; Uniprot ID:PEX5R_HUMAN; ENSEMBL ID: ENSG00000114757; HGNC ID: 30024
Relate to Another Database: SFARIGene; denovo-db
Gene Ontology Top
GO ID Evidence Qualifier GO_term References
GO:0005778IBA-peroxisomal membrane-
GO:0005829IBA-cytosol-
GO:0043235IDA-receptor complex23382219
GO ID Evidence Qualifier GO_term References
GO:0000268IDA-peroxisome targeting sequence binding18346465
GO:0005052IBA-peroxisome matrix targeting signal-1 binding-
GO:0031267IPI-small GTPase binding18346465
GO ID Evidence Qualifier GO_term References
GO:0016560IBA-protein import into peroxisome matrix, docking-
GO:0043949ISS-regulation of cAMP-mediated signaling-
Protein-Protein Interaction Top
AlzGene, PDGene and SZGene Top
Animal Model Top
  • MGI ID: MGI:1916672
  • Data Attributes: MGI curated and HomoloGene calculated
No data
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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