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 |
|---|---|---|---|---|---|
Nametropomyosin 3 OMIM IDMIM:191030 Ensembl IDEnsembl:ENSG00000143549 HGNC IDHGNC:HGNC:12012 PHARMGKB IDPA36692 Map Location1q21.3 | |||||
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 |
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) |
Gene-Drug: Aster Plot
Gene in drug-gene network: Network Plot
Gene-drug targets distribution
Gene Structure: PDB
Models in TPM3
Model | Level | Reference ID | Tissue | Cancer | Drug | Clinical Response | Source | |
|---|---|---|---|---|---|---|---|---|
| No matching records found | ||||||||
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