TPM3
Summary: This 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].
Name | OMIM ID | Ensembl ID | HGNC ID | PHARMGKB ID | Map Location |
---|---|---|---|---|---|
tropomyosin 3 | MIM:191030 | Ensembl:ENSG00000143549 | HGNC:HGNC:12012 | PA36692 | 1q21.3 |
GO terms in TPM3
Term Type | Evidence Type | GO Term ID | GO Des. |
---|---|---|---|
CC | IDA | GO:0001725 | stress fiber |
CC | IDA | GO:0005829 | cytosol |
CC | TAS | GO:0005829 | cytosol |
CC | NAS | GO:0005856 | cytoskeleton |
CC | TAS | GO:0005856 | cytoskeleton |
CC | TAS | GO:0005862 | muscle thin filament tropomyosin |
CC | IBA | GO:0005884 | actin filament |
CC | IDA | GO:0015629 | actin cytoskeleton |
CC | HDA | GO:0070062 | extracellular exosome |
BP | IBA | GO:0006936 | muscle contraction |
BP | TAS | GO:0006936 | muscle contraction |
BP | IBA | GO:0007015 | actin filament organization |
BP | TAS | GO:0030049 | muscle filament sliding |
MF | ND | GO:0003674 | molecular_function |
MF | IPI | GO:0005515 | protein binding |
MF | IBA | GO:0051015 | actin filament binding |
Gene expression in normal tissue: TPM3
Gene-model tissue-cancer distribution: Bubble Plot
Gene-drug pathway distribution
Pathways in TPM3
Database | Pathway ID | Pathway Des. |
---|---|---|
kegg | hsa04260 | Cardiac muscle contraction - Homo sapiens (human) |
kegg | hsa04261 | Adrenergic signaling in cardiomyocytes - Homo sapiens (human) |
kegg | hsa05200 | Pathways in cancer - Homo sapiens (human) |
kegg | hsa05216 | Thyroid cancer - Homo sapiens (human) |
kegg | hsa05410 | Hypertrophic cardiomyopathy (HCM) - Homo sapiens (human) |
kegg | hsa05414 | Dilated cardiomyopathy (DCM) - Homo sapiens (human) |
wikipathways | WP2002 | miR-targeted genes in epithelium - TarBase |
wikipathways | WP2003 | miR-targeted genes in leukocytes - TarBase |
wikipathways | WP2004 | miR-targeted genes in lymphocytes - TarBase |
wikipathways | WP2005 | miR-targeted genes in muscle cell - TarBase |
wikipathways | WP2006 | miR-targeted genes in squamous cell - TarBase |
wikipathways | WP383 | Striated Muscle Contraction |
reactome | R-HSA-390522 | Striated Muscle Contraction |
reactome | R-HSA-397014 | Muscle contraction |
reactome | R-HSA-445355 | Smooth Muscle Contraction |
Gene-Drug: Aster Plot
Drug ID | Drug Name | Model Num. |
---|---|---|
iGMDRD188 | Piperlongumine | 2 |
iGMDRD61 | Kinetin riboside | 2 |
iGMDRD150 | RITA | 3 |
iGMDRD886 | Compound 1541A | 3 |
iGMDRD297 | Austocystin D | 2 |
iGMDRD434 | BMS-536924 | 2 |
Gene in drug-gene network: Network Plot
Gene-drug targets distribution
Gene Structure: PDB
Models in TPM3