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 (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
28
Evidence Score: ★☆☆☆☆  Gene-disease association found in Text Mining only ★★☆☆☆  Found in Text Mining and Unknown/Other Associations ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession Evidence Score
Congenital myopathy 4A, autosomal dominant Pathogenic; Likely pathogenic rs876661406, rs876661407, rs2526038543, rs80358247, rs80358248, rs121964852, rs121964853, rs121964854, rs1571418855 RCV003151757
RCV003151758
RCV003152550
RCV003151723
RCV004562204
View all (5 more)
★★★★★
ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
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
View all (16 more)
★★★★★
ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
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
View all (15 more)
★★★★★
ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Myopathy Likely pathogenic rs797046047 RCV000193345
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Phenotype Name Clinical Significance Source Evidence Score
ASTHMA GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
CANNABIS DEPENDENCE GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
CAP MYOPATHY Disgenet, GWAS catalog, Orphanet
Disgenet, GWAS catalog, Orphanet
Disgenet, GWAS catalog, Orphanet
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
CAP MYOPATHY, TPM3-RELATED Disgenet
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text Mining Disease associations identified through text mining
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Acquired Kyphoscoliosis Acquired Kyphoscoliosis HPO_DG
★☆☆☆☆
Found in Text Mining only
Acute leukemia Leukemia BEFREE 30592640
★☆☆☆☆
Found in Text Mining only
Acute lymphocytic leukemia Lymphocytic Leukemia BEFREE 29920189
★☆☆☆☆
Found in Text Mining only
Adenocarcinoma Adenocarcinoma CTD_human_DG 15378696
★☆☆☆☆
Found in Text Mining only
Adenocarcinoma Adenocarcinoma BEFREE 30801752
★☆☆☆☆
Found in Text Mining only
Adenocarcinoma of lung (disorder) Lung adenocarcinoma BEFREE 29251824
★☆☆☆☆
Found in Text Mining only
Adenocarcinoma, Basal Cell Adenocarcinoma CTD_human_DG 15378696
★☆☆☆☆
Found in Text Mining only
Adenocarcinoma, Oxyphilic Adenocarcinoma CTD_human_DG 15378696
★☆☆☆☆
Found in Text Mining only
Adenocarcinoma, Tubular Adenocarcinoma CTD_human_DG 15378696
★☆☆☆☆
Found in Text Mining only
Adenoma Adenoma BEFREE 10646882
★☆☆☆☆
Found in Text Mining only