AutismKB 2.0

Annotation Details for COL12A1


View Evidences View Variants View Annotations
Basic Information Top
Gene Symbol:COL12A1 ( BA209D8.1,COL12A1L,DJ234P15.1 )
Gene Full Name: collagen, type XII, alpha 1
Band: 6q13-q14.1
Quick LinksEntrez ID:1303; OMIM: 120320; Uniprot ID:COCA1_HUMAN; ENSEMBL ID: ENSG00000111799; HGNC ID: 2188
Relate to Another Database: SFARIGene; denovo-db
Gene Ontology Top
GO ID Evidence Qualifier GO_term References
GO:0005576TAS-extracellular region-
GO:0005595NAS-collagen type XII trimer1427837
GO:0005615IDA-extracellular space20551380
GO:0005788TAS-endoplasmic reticulum lumen-
GO:0031012IDA-extracellular matrix23658023
GO:0031012IDAcolocalizes_withextracellular matrix20551380
GO:0070062IDA-extracellular exosome21362503
GO:1903561IDA-extracellular vesicle24769233
GO ID Evidence Qualifier GO_term References
GO:0030020NAS-extracellular matrix structural constituent conferring tensile strength1427837
GO ID Evidence Qualifier GO_term References
GO:0001501TAS-skeletal system development3476925
GO:0007155IEA-cell adhesion-
GO:0030199NAS-collagen fibril organization1427837
GO:0030574TAS-collagen catabolic process-
GO:0035987IEP-endodermal cell differentiation23154389
Protein-Protein Interaction Top
AlzGene, PDGene and SZGene Top
Animal Model Top
  • MGI ID: MGI:88448
  • 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