AutismKB 2.0

Annotation Details for MTMR12


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Basic Information Top
Gene Symbol:MTMR12 ( 3-PAP,PIP3AP )
Gene Full Name: myotubularin related protein 12
Band: 5p13.3
Quick LinksEntrez ID:54545; OMIM: 606501; Uniprot ID:MTMRC_HUMAN; ENSEMBL ID: ENSG00000150712; HGNC ID: 18191
Relate to Another Database: SFARIGene; denovo-db
Gene Ontology Top
GO ID Evidence Qualifier GO_term References
GO:0005829TAS-cytosol-
GO ID Evidence Qualifier GO_term References
GO:0005515IPI-protein binding12847286
GO:0019208IEA-phosphatase regulator activity-
GO ID Evidence Qualifier GO_term References
GO:0006661TAS-phosphatidylinositol biosynthetic process-
GO:0050790IEA-regulation of catalytic activity-
GO:1901998IEA-toxin transport-
Protein-Protein Interaction Top
AlzGene, PDGene and SZGene Top
Animal Model Top
  • MGI ID: MGI:2443034
  • 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