Gene Gene information from NCBI Gene database.
Entrez ID 7170
Gene name Tropomyosin 3
Gene symbol TPM3
Synonyms (NCBI Gene)
CAPM1CFTDCMYO4ACMYO4BCMYP4ACMYP4BHEL-189HEL-S-82pNEM1OK/SW-cl.5TM-5TM3TM30TM30nmTM5TPM3nuTPMsk3TRKhscp30
Chromosome 1
Chromosome location 1q21.3
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
SNPs SNP information provided by dbSNP.
22
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.
1194
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 (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
18
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 identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
191030 12012 ENSG00000143549
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
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
Associated diseases Disease associations from ClinVar categorized as Causal (Pathogenic/Likely Pathogenic) or Unknown.
656
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Congenital myopathy 4A, autosomal dominant Pathogenic; Likely pathogenic rs876661406, rs876661407, rs2526038543, rs80358247, rs80358248, rs121964852, rs121964853, rs121964854, rs1571418855 RCV003151757
RCV003151758
RCV003152550
RCV003151723
RCV004562204
RCV000054415
RCV003151724
RCV003151725
RCV000054416
RCV005860154
Congenital myopathy 4B, autosomal recessive Pathogenic; Likely pathogenic rs2148295371, rs2148295444, rs1571418855, rs2526056353, rs199474713, rs80358247, rs199474720, rs80358248, rs121964852, rs199474719, rs121964854, rs2526038482, rs2526055328, rs2148294647, rs1553249076
View all (4 more)
RCV001884898
RCV002014040
RCV002007718
RCV005868551
RCV003058660
RCV000013259
RCV000013260
RCV000013262
RCV000013263
RCV000013266
RCV000226212
RCV000637291
RCV003780948
RCV003792009
RCV003802400
RCV001857960
RCV000524673
RCV000637290
RCV000808390
RCV000986418
RCV000986419
Congenital myopathy with fiber type disproportion Pathogenic; Likely pathogenic rs2148295371, rs2148295444, rs1571418855, rs2526056353, rs199474713, rs2526035615, rs199474720, rs80358248, rs121964852, rs121964853, rs121964854, rs2526038482, rs2526055328, rs2148294647, rs1553249076
View all (1 more)
RCV001884898
RCV002014040
RCV002007718
RCV002285529
RCV003058660
RCV003142465
RCV000707046
RCV003764563
RCV000537032
RCV000013267
RCV000013268
RCV000013269
RCV003780948
RCV003792009
RCV003802400
RCV001857960
RCV000524673
RCV000034942
RCV000637290
RCV000808390
Myopathy Likely pathogenic rs797046047 RCV000193345
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Centronuclear myopathy Conflicting classifications of pathogenicity rs769493959 RCV004587292
Familial cancer of breast Likely benign rs374552223 RCV005934908
TPM3-related disorder Benign; Likely benign rs62000429, rs753693280, rs548951753, rs150586027 RCV003907708
RCV003959417
RCV003980136
RCV003965342
TPM3-related myopathy Conflicting classifications of pathogenicity rs727504181 RCV002514966
Associations from Text MiningDisease 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