| Gene
|
Entrez ID
Entrez Gene ID - the GENE ID in NCBI Gene database.
|
7170 |
Gene nameGene Name - the full gene name approved by the HGNC.
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Tropomyosin 3 |
Gene symbolGene Symbol - the official gene symbol approved by the HGNC, which is a short abbreviated form of the gene name.
|
TPM3 |
SynonymsGene synonyms aliases
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CAPM1, CFTD, HEL-189, HEL-S-82p, NEM1, OK/SW-cl.5, TM-5, TM3, TM30, TM30nm, TM5, TPM3nu, TPMsk3, TRK, hscp30 |
ChromosomeChromosome number
|
1 |
Chromosome locationChromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
|
1q21.3 |
SummarySummary of gene provided in NCBI Entrez Gene.
|
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] |
SNPsSNP information provided by dbSNP.
|
| SNP ID |
Visualize variation |
Clinical significance |
Consequence |
| rs80358247 |
A>C |
Not-provided, pathogenic |
Non coding transcript variant, missense variant, coding sequence variant, genic upstream transcript variant |
| rs80358248 |
G>A |
Not-provided, pathogenic |
Non coding transcript variant, coding sequence variant, genic upstream transcript variant, stop gained |
| rs113605263 |
C>A,G,T |
Pathogenic, not-provided, uncertain-significance |
Genic downstream transcript variant, intron variant, splice acceptor variant |
| rs121964852 |
C>T |
Pathogenic |
Genic downstream transcript variant, non coding transcript variant, missense variant, coding sequence variant |
| rs121964853 |
G>C,T |
Likely-pathogenic, pathogenic, not-provided |
Genic downstream transcript variant, missense variant, coding sequence variant, 5 prime UTR variant, intron variant, non coding transcript variant |
| rs121964854 |
G>A,C |
Likely-pathogenic, pathogenic |
Genic downstream transcript variant, non coding transcript variant, missense variant, coding sequence variant |
| rs199474711 |
G>A |
Not-provided, pathogenic |
Missense variant, coding sequence variant, genic upstream transcript variant, non coding transcript variant |
| rs199474713 |
C>G |
Not-provided, pathogenic |
Coding sequence variant, non coding transcript variant, missense variant, intron variant, 5 prime UTR variant, genic downstream transcript variant |
| rs199474715 |
T>C |
Not-provided, pathogenic |
Genic downstream transcript variant, missense variant, coding sequence variant, non coding transcript variant |
| rs199474717 |
C>T |
Not-provided, pathogenic |
Genic downstream transcript variant, missense variant, coding sequence variant, non coding transcript variant |
| rs199474718 |
T>C |
Not-provided, pathogenic |
Genic downstream transcript variant, missense variant, coding sequence variant, non coding transcript variant |
| rs199474719 |
T>- |
Not-provided, pathogenic |
Genic downstream transcript variant, intron variant, frameshift variant, coding sequence variant |
| rs199474720 |
T>G |
Not-provided, pathogenic, uncertain-significance |
Genic downstream transcript variant, intron variant, terminator codon variant, stop lost |
| rs727504181 |
G>A |
Pathogenic |
Genic downstream transcript variant, coding sequence variant, stop gained, non coding transcript variant |
| rs797046047 |
C>A |
Likely-pathogenic |
Non coding transcript variant, coding sequence variant, genic downstream transcript variant, missense variant |
| rs876661406 |
TTC>- |
Pathogenic |
Coding sequence variant, inframe deletion, intron variant, genic downstream transcript variant, non coding transcript variant |
| rs876661407 |
CTT>- |
Pathogenic |
Coding sequence variant, inframe deletion, intron variant, genic downstream transcript variant, non coding transcript variant |
| rs1553248515 |
G>T |
Pathogenic |
Non coding transcript variant, genic downstream transcript variant, coding sequence variant, missense variant |
| rs1553249076 |
G>A |
Likely-pathogenic |
Non coding transcript variant, genic downstream transcript variant, coding sequence variant, missense variant |
| rs1553251644 |
C>G,T |
Likely-pathogenic, uncertain-significance |
Non coding transcript variant, coding sequence variant, missense variant, genic upstream transcript variant |
| rs1571418855 |
G>A |
Likely-pathogenic |
Coding sequence variant, intron variant, missense variant, 5 prime UTR variant, non coding transcript variant, genic downstream transcript variant |
| rs1571456678 |
C>G |
Likely-pathogenic |
Coding sequence variant, genic upstream transcript variant, non coding transcript variant, missense variant |
|
miRNAmiRNA information provided by mirtarbase database.
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Gene ontology (GO)Gene ontology information of associated ontologies with gene provided by GO database.
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Other IDsOther ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
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| Protein
|
| UniProt ID |
P06753 |
| Protein name |
Tropomyosin alpha-3 chain (Gamma-tropomyosin) (Tropomyosin-3) (Tropomyosin-5) (hTM5) |
| Protein function |
Binds to actin filaments in muscle and non-muscle cells. Plays a central role, in association with the troponin complex, in the calcium dependent regulation of vertebrate striated muscle contraction. Smooth muscle contraction is regulated by interaction with caldesmon. In non-muscle cells is implicated in stabilizing cytoskeleton actin filaments. |
| PDB |
6OTN
|
| Family and domains |
Pfam
| Accession |
ID |
Position in sequence |
Description |
Type |
| PF00261 |
Tropomyosin |
49 → 285 |
Tropomyosin |
Coiled-coil |
|
Sequence |
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| Sequence length |
285 |
| Interactions |
View interactions |
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