AutismKB 2.0

Annotation Details for MYOM2


View Evidences View Variants View Annotations
Basic Information Top
Gene Symbol:MYOM2 ( TTNAP )
Gene Full Name: myomesin (M-protein) 2, 165kDa
Band: 8p23.3
Quick LinksEntrez ID:9172; OMIM: 603509; Uniprot ID:MYOM2_HUMAN; ENSEMBL ID: ENSG00000036448; HGNC ID: 7614
Relate to Another Database: SFARIGene; denovo-db
Gene Ontology Top
GO ID Evidence Qualifier GO_term References
GO:0005739IDA-mitochondrion20833797
GO:0005859IBA-muscle myosin complex-
GO:0030018IBA-Z disc-
GO:0031430IBA-M band-
GO:0032982IEA-myosin filament-
GO ID Evidence Qualifier GO_term References
GO:0005515IPI-protein binding23414517
GO:0008307TAS-structural constituent of muscle7505783
GO:0019900IPI-kinase binding12972258
GO:0051015IBA-actin filament binding-
GO:0051371IBA-muscle alpha-actinin binding-
GO:0097493IBA-structural molecule activity conferring elasticity-
GO ID Evidence Qualifier GO_term References
GO:0002074IEA-extraocular skeletal muscle development-
GO:0006936TAS-muscle contraction7505783
GO:0006941IBA-striated muscle contraction-
GO:0007015IBA-actin filament organization-
GO:0045214IBA-sarcomere organization-
GO:0071688IBA-striated muscle myosin thick filament assembly-
Protein-Protein Interaction Top
AlzGene, PDGene and SZGene Top
Animal Model Top
  • MGI ID: MGI:1328358
  • 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