AutismKB 2.0

Annotation Detail 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
Post Translation Modification Top
Location(AA) Modification
221N-linked (GlcNAc...) (Potential).
894Phosphoserine.
895Phosphothreonine.
Location(AA) Modifications Resource
221N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
Location(AA) Modification Resource
27PhosphoserineHMM predict
28MethylarginineHMM predict
34MethylarginineHMM predict
40Phosphothreonine(CDK)HMM predict
67Phosphoserine(CK1)HMM predict
73Phosphotyrosine(Jak)HMM predict
73Phosphotyrosine(Syk)HMM predict
221N-linkedHMM predict
424Phosphotyrosine(Jak)HMM predict
542Phosphoserine(CK1)HMM predict
688Phosphoserine(CDC2)HMM predict
747Phosphothreonine(PKC)HMM predict
841Phosphoserine(CK1)HMM predict
847Phosphoserine(CAMK2)HMM predict
847Phosphoserine(IKK)HMM predict
907Phosphoserine(CDC2)HMM predict
936Phosphothreonine(PKA)HMM predict
Validated transcription factor binding site by ChIP-Chip and ChIP-Seq
Validated miRNA targets Top
Cis-Nats regulation Top

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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