AutismKB 2.0

Annotation Details for MATN2


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Basic Information Top
Gene Symbol:MATN2 ( - )
Gene Full Name: matrilin 2
Band: 8q22.1-q22.2
Quick LinksEntrez ID:4147; OMIM: 602108; Uniprot ID:MATN2_HUMAN; ENSEMBL ID: ENSG00000132561; HGNC ID: 6908
Relate to Another Database: SFARIGene; denovo-db
Gene Ontology Top
GO ID Evidence Qualifier GO_term References
GO:0005578NAS-proteinaceous extracellular matrix11124542
GO:0005604IEA-basement membrane-
GO:0005615IEA-extracellular space-
GO:0031012IDA-extracellular matrix23979707
GO:0031012IDAcolocalizes_withextracellular matrix20551380
GO:0031012ISScolocalizes_withextracellular matrix22261194
GO ID Evidence Qualifier GO_term References
GO:0003674ND-molecular_function-
GO:0005509IEA-calcium ion binding-
GO:0005515IPI-protein binding21078624
GO ID Evidence Qualifier GO_term References
GO:0001764IEA-neuron migration-
GO:0007411IEA-axon guidance-
GO:0008150ND-biological_process-
GO:0008347IEA-glial cell migration-
GO:0031104IEA-dendrite regeneration-
GO:0048678IEA-response to axon injury-
Protein-Protein Interaction Top
Gene Symbol Interactant Interaction ID References Description
MATN2COL1A110767412180907 Reconstituted Complex
MATN2COL1A111031712180907 Reconstituted Complex
MATN2FBN210849512180907 Reconstituted Complex
MATN2FBN211031712180907 Reconstituted Complex
MATN2MATN111031611896063 Reconstituted Complex
MATN2MATN111031711896063 Reconstituted Complex
MATN3MATN211031711896063 Reconstituted Complex
MATN3MATN211031811896063 Reconstituted Complex
MATN4MATN211431311896063 Reconstituted Complex
MATN4MATN211031711896063 Reconstituted Complex
MATN2MATN211031712180907 Reconstituted Complex
No data
No data
AlzGene, PDGene and SZGene Top
Animal Model Top
  • MGI ID: MGI:109613
  • 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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