AutismKB 2.0

Annotation Details for COL24A1


View Evidences View Variants View Annotations
Basic Information Top
Gene Symbol:COL24A1 ( MGC142214 )
Gene Full Name: collagen, type XXIV, alpha 1
Band: 1p22.3
Quick LinksEntrez ID:255631; OMIM: 610025; Uniprot ID:COOA1_HUMAN; ENSEMBL ID: ENSG00000171502; HGNC ID: 20821
Relate to Another Database: SFARIGene; denovo-db
Gene Ontology Top
GO ID Evidence Qualifier GO_term References
GO:0005576TAS-extracellular region-
GO:0005578IEA-proteinaceous extracellular matrix-
GO:0005581IEA-collagen trimer-
GO:0005788TAS-endoplasmic reticulum lumen-
GO ID Evidence Qualifier GO_term References
GO:0005201IEA-extracellular matrix structural constituent-
GO:0005515IPI-protein binding25416956
GO ID Evidence Qualifier GO_term References
GO:0002244IEA-hematopoietic progenitor cell differentiation-
Protein-Protein Interaction Top
AlzGene, PDGene and SZGene Top
Animal Model Top
  • MGI ID: MGI:1918605
  • 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