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10 sources retrieved · Most recent: April 2026 · Index updated 14 days ago
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TMOD1
tropomodulin 1
Chromosome 9 · 9q22.33
NCBI Gene: 7111Ensembl: ENSG00000136842.15HGNC: HGNC:11871UniProt: P28289
76PubMed Papers
20Diseases
0Drugs
0Pathogenic Variants
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
sarcomeremyofibrilCOP9 signalosomestriated muscle thin filamentBarrett's esophagushypothyroidismfracture of pelvisneurodegenerative disease
✦AI Summary

TMOD1 is an actin-capping protein that blocks elongation and depolymerization of actin filaments at the pointed end by binding to tropomyosin 1. This regulation of actin filament length is essential for sarcomere organization and muscle function, with TMOD1 working in complex with other regulatory proteins like FLII to maintain proper thin filament geometry 2. Pathogenic TMOD1 mutations cause childhood-onset cardiomyopathy through compromised filament length regulation. The R189W variant demonstrates weakened pointed-end capping activity, resulting in abnormally elongated thin filaments and impaired contractile dynamics 3. Beyond cardiac muscle, TMOD1 participates in neuronal actin dynamics, contributing to neurite outgrowth and synaptic plasticity 4, and regulates kidney water homeostasis through tubule-specific actin organization 5. In immune responses, TMOD1 negatively regulates TLR4 endocytosis in macrophages by modulating actin cytoskeleton reorganization and membrane tension, thereby exacerbating inflammatory responses 6. Clinically, elevated TMOD1 expression correlates with enhanced cancer progression, including regional lymph node metastasis in oral squamous cell carcinoma 7 and acute myeloid leukemia cell proliferation 8, establishing TMOD1 as both a disease biomarker and potential therapeutic target.

Sources cited
1
TMOD1 blocks actin filament pointed-end elongation and depolymerization; R189W mutation causes childhood cardiomyopathy through altered actin capping activity and thin filament elongation
PMID: 38168645
2
TMOD1 associates with FLII protein to regulate sarcomere thin filament length; mutations result in cardiomyopathy through altered filament organization
PMID: 37126682
3
TMOD1 regulates actin dynamics in brain neurons, participating in neurite outgrowth, dendritic spine formation, and synaptic plasticity
PMID: 40517963
4
TMOD1 is highly expressed in acute myeloid leukemia and promotes cell proliferation; TMOD1 silencing inhibits AML growth through KPNA2-mediated autophagy
PMID: 39079577
5
TMOD1 negatively regulates LPS-induced TLR4 endocytosis in macrophages through actin cytoskeleton modulation, exacerbating inflammatory response
PMID: 39276234
6
TMOD1 is expressed in kidney distal tubules and collecting ducts; TMOD1 knockout causes oliguria and hyperosmolality, indicating role in water balance regulation
PMID: 31339916
7
TMOD1 overexpression in oral squamous cell carcinoma correlates with regional lymph node metastasis and poor survival prognosis
PMID: 26718916
8
TMOD1 is a pointed-end capping protein that binds tropomyosin N-terminus and blocks actin filament elongation/depolymerization; highest expression in heart and skeletal muscle
PMID: 8661028
Disease Associationsⓘ20
Barrett's esophagusOpen Targets
0.40Moderate
hypothyroidismOpen Targets
0.35Weak
fracture of pelvisOpen Targets
0.32Weak
neurodegenerative diseaseOpen Targets
0.27Weak
esophageal adenocarcinomaOpen Targets
0.27Weak
laryngeal diseaseOpen Targets
0.22Weak
basal cell carcinomaOpen Targets
0.20Weak
Urethral strictureOpen Targets
0.19Weak
urinary system diseaseOpen Targets
0.19Weak
multinodular goiterOpen Targets
0.16Weak
non-melanoma skin carcinomaOpen Targets
0.16Weak
nontoxic goiterOpen Targets
0.15Weak
idiopathic cardiomyopathyOpen Targets
0.12Weak
neuroblastomaOpen Targets
0.07Suggestive
left ventricular noncompactionOpen Targets
0.06Suggestive
Crigler-Najjar syndrome type 2Open Targets
0.06Suggestive
hypertrophic cardiomyopathyOpen Targets
0.06Suggestive
Rare familial disorder with hypertrophic cardiomyopathyOpen Targets
0.05Suggestive
dilated cardiomyopathy 1AAOpen Targets
0.05Suggestive
Atrial stand stillOpen Targets
0.05Suggestive
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar ↗
Related Genes
ADD1Protein interaction97%NEBProtein interaction97%ADD2Protein interaction95%ADD3Protein interaction94%DMTNProtein interaction93%ACTA1Protein interaction93%
Tissue Expression6 tissues
Heart
100%
Ovary
23%
Brain
21%
Bone Marrow
7%
Lung
7%
Liver
7%
Gene Interaction Network
Click a node to explore
TMOD1ADD1NEBADD2ADD3DMTNACTA1
PROTEIN STRUCTURE
Preparing viewer…
PDB4PKG · 1.80 Å · X-ray
View on RCSB ↗
Constraintⓘ
LOEUFⓘ
0.59Moderately Constrained
pLIⓘ
0.52Intermediate
Observed/Expected LoF0.39 [0.26–0.59]
RankingsWhere TMOD1 stands among ~20K protein-coding genes
  • #6,294of 20,598
    Most Researched76
  • #4,041of 17,882
    Most Constrained (LOEUF)0.59 · top quartile
Genes detectedTMOD1
Sources retrieved10 papers
Response time—
📄 Sources
10▼
1
A human FLII gene variant alters sarcomeric actin thin filament length and predisposes to cardiomyopathy.
PMID: 37126682
Proc Natl Acad Sci U S A · 2023
1.00
2
Recessive TMOD1 mutation causes childhood cardiomyopathy.
PMID: 38168645
Commun Biol · 2024
0.90
3
Role of Tropomodulins in brain physiology and pathology.
PMID: 40517963
Neurobiol Dis · 2025
0.80
4
Silencing of tropomodulin 1 inhibits acute myeloid leukemia cell proliferation and tumor growth by elevating karyopherin alpha 2-mediated autophagy.
PMID: 39079577
Pharmacol Res · 2024
0.70
5
Tropomodulin1 exacerbates inflammatory response in macrophages by negatively regulating LPS-induced TLR4 endocytosis.
PMID: 39276234
Cell Mol Life Sci · 2024
0.60