Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
7170
Gene name Gene Name - the full gene name approved by the HGNC.
Tropomyosin 3
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
TPM3
Synonyms (NCBI Gene) Gene synonyms aliases
CAPM1, CFTD, CMYO4A, CMYO4B, CMYP4A, CMYP4B, HEL-189, HEL-S-82p, NEM1, OK/SW-cl.5, TM-5, TM3, TM30, TM30nm, TM5, TPM3nu, TPMsk3, TRK, hscp30
Chromosome Chromosome number
1
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
1q21.3
Summary Summary 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
SNPs SNP 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
miRNA miRNA information provided by mirtarbase database.
miRTarBase ID miRNA Experiments Reference
MIRT001403 hsa-miR-16-5p pSILAC 18668040
MIRT001403 hsa-miR-16-5p pSILAC 18668040
MIRT001325 hsa-miR-1-3p pSILAC 18668040
MIRT021512 hsa-miR-145-5p Reporter assay;Microarray 21351259
MIRT001325 hsa-miR-1-3p Proteomics;Microarray 18668037
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
GO ID Ontology Definition Evidence Reference
GO:0001725 Component Stress fiber IDA 16236705
GO:0003779 Function Actin binding IEA
GO:0005515 Function Protein binding IPI 16189514, 21516116, 23892143, 25416956, 25910212, 25959826, 27107012, 31515488, 32296183, 32814053, 33961781, 35510366
GO:0005737 Component Cytoplasm IEA
GO:0005739 Component Mitochondrion HTP 34800366
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM HGNC e!Ensembl
191030 12012 ENSG00000143549
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 int
PDB 6OTN
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00261 Tropomyosin 49 285 Tropomyosin Coiled-coil
Sequence
Sequence length 285
Interactions View interactions
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Associated diseases Disease associations categorized as Causal (pathogenic variants), Unknown (uncertain genetic evidence), or Text Mining (literature-based associations)
Causal Diseases caused by PATHOGENIC or LIKELY PATHOGENIC variants from ClinVar only
Disease merge term Disease name dbSNP ID References
congenital myopathy Congenital myopathy 4A, autosomal dominant, Congenital myopathy 4B, autosomal recessive rs876661407, rs1553251644, rs121964853, rs1571456678, rs80358247, rs121964854, rs199474720, rs80358248, rs121964852, rs876661406, rs199474719 N/A
congenital myopathy with fiber type disproportion Congenital myopathy with fiber type disproportion rs121964853, rs121964854 N/A
Myopathy myopathy rs797046047 N/A
nemaline myopathy Nemaline myopathy rs121964854 N/A
Associations from Text Mining Disease associations identified through Pubtator
Disease Name Relationship Type References
Actin Accumulation Myopathy Associate 22798622
Adenocarcinoma of Lung Associate 29251824, 32277007, 33091968
Alzheimer Disease Associate 19072283
Ascites Associate 33896831
Bloom Syndrome Associate 33219493
Breast Neoplasms Stimulate 31705785
Breast Neoplasms Associate 37176055
Carcinoma Associate 35149769
Carcinoma Endometrioid Associate 23078675
Carcinoma Hepatocellular Associate 18803288, 20356415, 22792281, 34850589