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WormBase Tree Display for Gene: HGNC:12012

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Name Class

HGNC:12012IdentityNameCGC_nameTpm3Inferred_automaticallyAGR_import
Other_name (35)
Public_nameTpm3
DB_infoDatabaseHGNCid12012
AGRcURIHGNC:12012
EnsEMBLENSEMBL_geneIDENSG00000143549
UniProtUniProt_ACP06753
OMIMgene191030
DOidDOID:3969
DOID:0080102
DOID:0110926
SpeciesHomo sapiens
StatusLive
Gene_infoBiotypeSO:0001217
OrthologWBGene00002978Caenorhabditis elegansFrom_analysisHieranoid
Inparanoid
OMA
OrthoFinder
OrthoInspector
Panther
SonicParanoid
Structured_descriptionAutomated_descriptionThis gene encodes a member of the tropomyosin family of actin-binding proteins. Tropomyosins are dimers of coiled-coil proteins that provide stability to actin filaments and regulate access of other actin-binding proteins. Mutations in this gene result in autosomal dominant nemaline myopathy and other muscle disorders. This locus is involved in translocations with other loci, including anaplastic lymphoma receptor tyrosine kinase (ALK) and neurotrophic tyrosine kinase receptor type 1 (NTRK1), which result in the formation of fusion proteins that act as oncogenes. There are numerous pseudogenes for this gene on different chromosomes. Alternative splicing results in multiple transcript variants. [provided by RefSeq, May 2013]Inferred_automaticallyAGR_import