AutismKB 2.0

Annotation Details for EXPH5


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Basic Information Top
Gene Symbol:EXPH5 ( DKFZp586F1223,DKFZp781H0795,KIAA0624,MGC133291,MGC134967,SLAC2-B,SLAC2B )
Gene Full Name: exophilin 5
Band: 11q22.3
Quick LinksEntrez ID:23086; OMIM: 612878; Uniprot ID:Q149M6_HUMAN; ENSEMBL ID: ENSG00000110723; HGNC ID: 30578
Relate to Another Database: SFARIGene; denovo-db
Gene Ontology Top
GO ID Evidence Qualifier GO_term References
GO:0005768IDA-endosome19966785
GO ID Evidence Qualifier GO_term References
GO:0017137IPI-Rab GTPase binding16880209
GO ID Evidence Qualifier GO_term References
GO:0003334IMP-keratinocyte development23176819
GO:0006886IEA-intracellular protein transport-
GO:0045921IMP-positive regulation of exocytosis19966785
GO:0050714IMP-positive regulation of protein secretion19966785
GO:0071985IMP-multivesicular body sorting pathway19966785
Protein-Protein Interaction Top
Gene Symbol Interactant Interaction ID References Description
EXPH5APC11671520936779 Two-hybrid
EXPH5APC10682120936779 Two-hybrid
EXPH5RAB27A11671511773082 Affinity Capture-Western
EXPH5RAB27A11181111773082 Affinity Capture-Western
No data
No data
AlzGene, PDGene and SZGene Top
Animal Model Top
  • MGI ID: MGI:2443248
  • 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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