TMOD4 (tropomodulin 4)

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Gene Gene information from NCBI Gene database.
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Entrez ID 29765
Gene name Tropomodulin 4
Gene symbol TMOD4
Synonyms (NCBI Gene)
SK-TMOD
Chromosome 1
Chromosome location 1q21.3
miRNA miRNA information provided by mirtarbase database.
1
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miRTarBase ID miRNA Experiments Reference
MIRT017896 hsa-miR-335-5p Microarray 18185580
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
17 Show/Hide all (17)
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GO ID Ontology Definition Evidence Reference
GO:0003779 Function Actin binding IEA
GO:0005515 Function Protein binding IPI 32296183
GO:0005523 Function Tropomyosin binding IBA
GO:0005523 Function Tropomyosin binding IEA
GO:0005523 Function Tropomyosin binding TAS 10662549
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
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MIM HGNC e!Ensembl
605834 11874 ENSG00000163157
Protein Protein information from UniProt database.
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UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q9NZQ9
Protein name Tropomodulin-4 (Skeletal muscle tropomodulin) (Sk-Tmod)
Protein function Blocks the elongation and depolymerization of the actin filaments at the pointed end. The Tmod/TM complex contributes to the formation of the short actin protofilament, which in turn defines the geometry of the membrane skeleton.
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF03250 Tropomodulin 4 → 143 Tropomodulin Family
Tissue specificity TISSUE SPECIFICITY: Highly expressed in skeletal muscle. {ECO:0000269|PubMed:10662549}.
Sequence 
MSSYQKELEKYRDIDEDEILRTLSPEELEQLDCELQEMDPENMLLPAGLRQRDQTKKSPT
GPLDREALLQYLEQQALEVKERDDLVPFTGEKKGKPYIQPKREIPAEEQITLEPELEEAL
AHATDAEMCDIAAILDMYTLMSNKQYYDALCSGEICNTEGISSVVQPDKYKPVPDEPPNP
TNIEEILKRVRSNDKELEEVNLNNIQDIPIPMLSELCEAMKANTYVRSFSLVATRSGDPI
ANAVADMLRENRSLQSLNIESNFISSTGLMAVLKAVRENATLTELRVDNQRQWPGDAVEM
EMATVLEQCPSIVRFGYHFTQQGPRARAAQAMTRNNELRRQQKKR
Sequence length 345
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
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KEGG Pathway Reactome Pathway
Cytoskeleton in muscle cells Striated Muscle Contraction
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
5
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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)
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 Reference Evidence Score
CHRONIC KIDNEY DISEASE — GWAS catalog 30226566
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
CORONARY ARTERY DISEASE — GWAS catalog 30402224
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
HYPERTENSION — GWAS catalog 30226566
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
MYOCARDIAL INFARCTION — GWAS catalog 30226566
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
STROKE — GWAS catalog 29930801
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text Mining Disease associations identified through text mining
Show/Hide Text Mining Associations (15)
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Breast Carcinoma Breast Carcinoma BEFREE 24330716
★★★★★
★☆☆☆☆
Found in Text Mining only
Chronic Lymphocytic Leukemia Lymphocytic Leukemia BEFREE 14557598
★★★★★
★☆☆☆☆
Found in Text Mining only
Glioma Glioma BEFREE 29399702
★★★★★
★☆☆☆☆
Found in Text Mining only
Glioma Glioma Pubtator 29399702 Associate
★★★★★
★☆☆☆☆
Found in Text Mining only
Liver carcinoma Liver carcinoma BEFREE 29970516
★★★★★
★☆☆☆☆
Found in Text Mining only
Malignant neoplasm of breast Breast Cancer BEFREE 24330716
★★★★★
★☆☆☆☆
Found in Text Mining only
Malignant neoplasm of prostate Prostate cancer BEFREE 27924630
★★★★★
★☆☆☆☆
Found in Text Mining only
Malignant neoplasm of stomach Stomach Neoplasms BEFREE 23545944
★★★★★
★☆☆☆☆
Found in Text Mining only
Malignant Neoplasms Malignant Neoplasm BEFREE 18237446, 29970516, 31685300
★★★★★
★☆☆☆☆
Found in Text Mining only
Myocardial Infarction Myocardial infarction Pubtator 30226566 Associate
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
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ZNF77 2 shared evidence sourcesGWAS catalog (Kidney disease), GWAS catalog (Stroke) Related via 2 shared evidence sources. TMOD3 2 shared pathwaysCytoskeleton in muscle cells, Striated Muscle Contraction Related via 2 shared pathways including Cytoskeleton in muscle cells, Striated Muscle Contraction. TMOD2 2 shared pathwaysCytoskeleton in muscle cells, Striated Muscle Contraction Related via 2 shared pathways including Cytoskeleton in muscle cells, Striated Muscle Contraction. MYBPC1 2 shared pathwaysCytoskeleton in muscle cells, Striated Muscle Contraction Related via 2 shared pathways including Cytoskeleton in muscle cells, Striated Muscle Contraction. MYBPC2 2 shared pathwaysCytoskeleton in muscle cells, Striated Muscle Contraction Related via 2 shared pathways including Cytoskeleton in muscle cells, Striated Muscle Contraction.
Alzheimer disease Linked via 1 of 5 related genesZNF77 Dementia Linked via 1 of 5 related genesZNF77 Oligodendroglioma Linked via 1 of 5 related genesZNF77 Attention deficit hyperactivity disorder Linked via 1 of 5 related genesTMOD3 Autism Linked via 1 of 5 related genesTMOD3