AutismKB 2.0

Annotation Details for COL5A2


View Evidences View Variants View Annotations
Basic Information Top
Gene Symbol:COL5A2 ( MGC105115 )
Gene Full Name: collagen, type V, alpha 2
Band: 2q32.2
Quick LinksEntrez ID:1290; OMIM: 120190; Uniprot ID:CO5A2_HUMAN; ENSEMBL ID: ENSG00000204262; HGNC ID: 2210
Relate to Another Database: SFARIGene; denovo-db
Gene Ontology Top
GO ID Evidence Qualifier GO_term References
GO:0005576TAS-extracellular region-
GO:0005588IMP-collagen type V trimer9425231
GO:0005615IEA-extracellular space-
GO:0005788TAS-endoplasmic reticulum lumen-
GO:0031012NAS-extracellular matrix17666000
GO ID Evidence Qualifier GO_term References
GO:0003674ND-molecular_function-
GO:0005201IEA-extracellular matrix structural constituent-
GO:0046332IEA-SMAD binding-
GO:0046872IEA-metal ion binding-
GO ID Evidence Qualifier GO_term References
GO:0001501IEA-skeletal system development-
GO:0001503IEA-ossification-
GO:0030198TAS-extracellular matrix organization-
GO:0030199IMP-collagen fibril organization9425231
GO:0030199ISS-collagen fibril organization-
GO:0030574TAS-collagen catabolic process-
GO:0043588IMP-skin development9425231
GO:0043588ISS-skin development-
GO:0048592IMP-eye morphogenesis16431952
GO:0071230IEA-cellular response to amino acid stimulus-
GO:1903225IDA-negative regulation of endodermal cell differentiation23154389
Protein-Protein Interaction Top
AlzGene, PDGene and SZGene Top
Animal Model Top
  • MGI ID: MGI:88458
  • 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