TMOD4 (tropomodulin 4)

Gene

• Entrez ID: 29765
• Gene name: Tropomodulin 4
• Gene symbol: TMOD4
• Synonyms (NCBI Gene): SK-TMOD
• Chromosome: 1
• Chromosome location: 1q21.3

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT017896	hsa-miR-335-5p	Microarray	18185580

Gene ontology (GO)

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
GO:0005737	Component	Cytoplasm	IEA
GO:0005856	Component	Cytoskeleton	IBA
GO:0005856	Component	Cytoskeleton	IEA
GO:0005865	Component	Striated muscle thin filament	IBA
GO:0005865	Component	Striated muscle thin filament	IDA	25250574
GO:0005865	Component	Striated muscle thin filament	IEA
GO:0006936	Process	Muscle contraction	IBA
GO:0006936	Process	Muscle contraction	TAS	10662549
GO:0007015	Process	Actin filament organization	IBA
GO:0030016	Component	Myofibril	IBA
GO:0030239	Process	Myofibril assembly	IBA
GO:0051694	Process	Pointed-end actin filament capping	IEA

Other IDs

• MIM: 605834
• HGNC: 11874
• e!Ensembl: ENSG00000163157

Protein

• UniProt ID: 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

Pathways

KEGG:

Cytoskeleton in muscle cells

Reactome:

Striated Muscle Contraction

Associated diseases

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
Phenotype Name	Clinical Significance	Source	Evidence Score
CHRONIC KIDNEY DISEASE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CORONARY ARTERY DISEASE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HYPERTENSION	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MYOCARDIAL INFARCTION	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
STROKE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
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	BEFREE	30226566		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Myocardial Infarction	Myocardial infarction	Pubtator	30226566	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Neoplasms	Neoplasms	BEFREE	18237446, 29970516		★☆☆☆☆ Found in Text Mining only
Prostate carcinoma	Prostate cancer	BEFREE	27924630		★☆☆☆☆ Found in Text Mining only
Stomach Carcinoma	Stomach Carcinoma	BEFREE	23545944		★☆☆☆☆ Found in Text Mining only
TARSAL-CARPAL COALITION SYNDROME	Tarsal-Carpal Coalition Syndrome	BEFREE	31068979		★☆☆☆☆ Found in Text Mining only