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10 sources retrieved · Most recent: April 2026 · Index updated 14 days ago
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DMTN
dematin actin binding protein
Chromosome 8 · 8p21.3
NCBI Gene: 2039Ensembl: ENSG00000158856.19HGNC: HGNC:3382UniProt: Q08495
51PubMed Papers
20Diseases
0Drugs
0Pathogenic Variants
FUNCTIONAL ROLE
Tumor Suppressor
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
protein bindingplatelet dense tubular network membraneregulation of filopodium assemblyspectrin bindingmetabolic diseasehyperlipidemiaSensorineural hearing impairmentresponse to statin
✦AI Summary

DMTN encodes dematin, a membrane-cytoskeleton-associated protein that functions as a key regulator of actin dynamics and cellular architecture. The protein directly binds F-actin and induces actin bundle formation, with activity regulated by phosphorylation via cAMP-dependent protein kinase A 1. DMTN interacts with β-spectrin through conserved SADH motifs, contributing to cortical cytoskeletal organization and membrane stability 1. Mechanistically, DMTN acts as a tumor suppressor by inhibiting RhoA-mediated signaling pathways and regulating cell cycle progression through downregulation of CDK1, CDK2, CDK4, and cyclin D1 2. The protein also modulates actin cytoskeletal rearrangements by binding to ARHGEF2 and inhibiting Rac1 signaling activation 3. DMTN expression is significantly reduced in multiple cancers, including glioblastoma and colorectal cancer, often due to promoter hypermethylation 23. This downregulation correlates with increased tumor invasion, metastasis, and poor patient survival 23. Additionally, DMTN deletions at chromosome 8.3 are associated with autism spectrum disorder, suggesting roles in neurodevelopment 4. The protein's dual function in cytoskeletal regulation and tumor suppression makes it clinically significant for cancer prognosis and potential therapeutic targeting.

Sources cited
1
DMTN acts as tumor suppressor in glioblastoma by inhibiting RhoA signaling and regulating CDKs
PMID: 35561787
2
DMTN hypermethylation promotes colorectal cancer metastasis through Rac1 signaling and actin cytoskeleton regulation
PMID: 30514346
3
DMTN contains SADH motifs that bind β-spectrin and regulate cortical dynamics
PMID: 25664942
4
8p21.3 deletions containing DMTN are rare causes of autism spectrum disorder
PMID: 33683518
⚠Limited data available — This gene has 4 indexed publications. Summary and analysis may be incomplete.
Disease Associationsⓘ20
metabolic diseaseOpen Targets
0.26Weak
hyperlipidemiaOpen Targets
0.25Weak
Sensorineural hearing impairmentOpen Targets
0.24Weak
response to statinOpen Targets
0.24Weak
HypercholesterolemiaOpen Targets
0.22Weak
Increased total eosinophil countOpen Targets
0.22Weak
preeclampsiaOpen Targets
0.21Weak
premature birthOpen Targets
0.20Weak
Blackfan-Diamond anemiaOpen Targets
0.09Suggestive
colorectal carcinomaOpen Targets
0.08Suggestive
inosine triphosphatase deficiencyOpen Targets
0.06Suggestive
primary familial polycythemia due to EPO receptor mutationOpen Targets
0.06Suggestive
Rh deficiency syndromeOpen Targets
0.06Suggestive
myelodysplastic syndrome associated with isolated del(5q)Open Targets
0.06Suggestive
hereditary elliptocytosisOpen Targets
0.06Suggestive
alpha thalassemia-intellectual disability syndrome type 1Open Targets
0.06Suggestive
Alpha-thalassemia - intellectual disability syndrome linked to chromosome 16Open Targets
0.06Suggestive
Beta-thalassemia - X-linked thrombocytopeniaOpen Targets
0.06Suggestive
beta-thalassemia-X-linked thrombocytopenia syndromeOpen Targets
0.06Suggestive
dehydrated hereditary stomatocytosisOpen Targets
0.06Suggestive
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar ↗
Related Genes
TMOD4Protein interaction95%TMOD3Protein interaction94%EPB42Protein interaction93%TMOD1Protein interaction93%ADD1Protein interaction89%ADD2Protein interaction89%
Tissue Expression6 tissues
Bone Marrow
100%
Brain
75%
Heart
59%
Liver
18%
Lung
13%
Ovary
2%
Gene Interaction Network
Click a node to explore
DMTNTMOD4TMOD3EPB42TMOD1ADD1ADD2
PROTEIN STRUCTURE
Preparing viewer…
PDB1QZP · NMR
View on RCSB ↗
Constraintⓘ
LOEUFⓘ
0.69LoF Tolerant
pLIⓘ
0.00Tolerant
Observed/Expected LoF0.50 [0.37–0.69]
RankingsWhere DMTN stands among ~20K protein-coding genes
  • #8,665of 20,598
    Most Researched51
  • #5,263of 17,882
    Most Constrained (LOEUF)0.69
Genes detectedDMTN
Sources retrieved10 papers
Response time—
📄 Sources
10▼
1
Dematin inhibits glioblastoma malignancy through RhoA-mediated CDKs downregulation and cytoskeleton remodeling.
PMID: 35561787
Exp Cell Res · 2022
1.00
2
Artificial intelligence-based epigenomic, transcriptomic and histologic signatures of tobacco use in oral squamous cell carcinoma.
PMID: 38851780
NPJ Precis Oncol · 2024
0.90
3
Pre-stimulus thalamic theta power predicts human memory formation.
PMID: 27208861
Neuroimage · 2016
0.80
4
Human thalamic low-frequency oscillations correlate with expected value and outcomes during reinforcement learning.
PMID: 37848435
Nat Commun · 2023
0.70
5
8p21.3 deletions are rare causes of non-syndromic autism spectrum disorder.
PMID: 33683518
Neurogenetics · 2021
0.60