AutismKB 2.0

Annotation Details for MATN1


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Basic Information Top
Gene Symbol:MATN1 ( CMP,CRTM )
Gene Full Name: matrilin 1, cartilage matrix protein
Band: 1p35.2
Quick LinksEntrez ID:4146; OMIM: 115437; Uniprot ID:MATN1_HUMAN; ENSEMBL ID: ENSG00000162510; HGNC ID: 6907
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 ID Evidence Qualifier GO_term References
GO:0005201IEA-extracellular matrix structural constituent-
GO:0005509IEA-calcium ion binding-
GO:0005515IPI-protein binding15075323
GO ID Evidence Qualifier GO_term References
GO:0003429IEA-growth plate cartilage chondrocyte morphogenesis-
GO:0006461TAS-protein complex assembly9083061
GO:0030198TAS-extracellular matrix organization-
GO:0030500IEA-regulation of bone mineralization-
Protein-Protein Interaction Top
Gene Symbol Interactant Interaction ID References Description
MATN1ITGA111031610196235 Reconstituted Complex
MATN1ITGA110987910196235 Reconstituted Complex
MATN2MATN111031611896063 Reconstituted Complex
MATN2MATN111031711896063 Reconstituted Complex
MATN3MATN111031611896063 Reconstituted Complex
MATN3MATN111031811896063 Reconstituted Complex
MATN4MATN111431311896063 Reconstituted Complex
MATN4MATN111031611896063 Reconstituted Complex
No data
No data
AlzGene, PDGene and SZGene Top
Animal Model Top
  • MGI ID: MGI:106591
  • Data Attributes: MGI curated and HomoloGene calculated
No data
No data

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  (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