Gene Gene information from NCBI Gene database.
Entrez ID 7171
Gene name Tropomyosin 4
Gene symbol TPM4
Synonyms (NCBI Gene)
BDPLT25HEL-S-108
Chromosome 19
Chromosome location 19p13.12-p13.11
Summary This gene encodes a member of the tropomyosin family of actin-binding proteins involved in the contractile system of striated and smooth muscles and the cytoskeleton of non-muscle cells. Tropomyosins are dimers of coiled-coil proteins that polymerize end-
miRNA miRNA information provided by mirtarbase database.
1126
miRTarBase ID miRNA Experiments Reference
MIRT002782 hsa-miR-1-3p pSILAC 18668040
MIRT002782 hsa-miR-1-3p Microarray 15685193
MIRT002782 hsa-miR-1-3p Proteomics;Microarray 18668037
MIRT002782 hsa-miR-1-3p Proteomics 18668040
MIRT002782 hsa-miR-1-3p Microarray 15685193
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
29
GO ID Ontology Definition Evidence Reference
GO:0001649 Process Osteoblast differentiation HDA 16210410
GO:0001725 Component Stress fiber IDA 16236705
GO:0002102 Component Podosome IEA
GO:0003779 Function Actin binding IEA
GO:0005509 Function Calcium ion binding NAS 1836432
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
600317 12013 ENSG00000167460
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
P67936
Protein name Tropomyosin alpha-4 chain (TM30p1) (Tropomyosin-4)
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
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00261 Tropomyosin 12 248 Tropomyosin Coiled-coil
Tissue specificity TISSUE SPECIFICITY: Detected in cardiac tissue and platelets, the form found in cardiac tissue is a higher molecular weight than the form found in platelets. Expressed at higher levels in the platelets of hypertensive patients with cardiac hypertrophy tha
Sequence
Sequence length 248
Interactions View interactions
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
13
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
Bleeding disorder, platelet-type, 25 Pathogenic rs752488156, rs2512689549, rs2090489083 RCV003324880
RCV003324881
RCV003324882
★★★★☆
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
Abnormal bleeding Uncertain significance ClinVar
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
ASBESTOSIS CTD, Disgenet
CTD, Disgenet
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
AUTOSOMAL DOMINANT MACROTHROMBOCYTOPENIA Disgenet
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
BLOOD PLATELET DISORDERS 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
Acute Coronary Syndrome Coronary Syndrome CTD_human_DG 21751358
★☆☆☆☆
Found in Text Mining only
Alzheimer Disease Alzheimer disease Pubtator 36672180 Associate
★☆☆☆☆
Found in Text Mining only
Asbestosis Asbestosis CTD_human_DG 22537621
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Autosomal dominant macrothrombocytopenia Macrothrombocytopenia ORPHANET_DG 28134622
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Autosomal dominant macrothrombocytopenia Macrothrombocytopenia Orphanet
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Blood Platelet Disorders Platelet-type bleeding disorder BEFREE 28134622
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Blood Platelet Disorders Platelet-type bleeding disorder GENOMICS_ENGLAND_DG 28134622
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Brain Diseases Brain disease Pubtator 36672180 Associate
★☆☆☆☆
Found in Text Mining only
Breast Neoplasms Breast neoplasm Pubtator 23812729 Associate
★☆☆☆☆
Found in Text Mining only
Carcinogenesis Carcinogenesis Pubtator 17131471, 21119665 Associate
★☆☆☆☆
Found in Text Mining only