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10 sources retrieved · Most recent: April 2026 · Index updated 15 days ago
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DMRTA1
DMRT like family A1
Chromosome 9 · 9p21.3
NCBI Gene: 63951Ensembl: ENSG00000176399.4HGNC: HGNC:13826UniProt: Q5VZB9
13PubMed Papers
20Diseases
0Drugs
0Pathogenic Variants
FUNCTIONAL ROLE
Transcription Factor
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
protein bindingsequence-specific double-stranded DNA bindingchromatinDNA-binding transcription factor activity, RNA polymerase II-specificdiabetes mellitusdental cariesalcohol drinkingdentures
✦AI Summary

DMRTA1 is a transcription factor of the DMRT family located on chromosome 9.1 that functions as a DNA-binding regulator of gene expression with roles in multiple biological contexts. 1 The gene is highly expressed in activated and memory CD8+ T cells, where it modulates early naïve CD8+ T cell activation and supports cytotoxic functionality through granzyme B expression, particularly in secondary lymphoid organs during antiviral responses. 1 In cancer contexts, DMRTA1 has emerged as a significant oncogenic factor. 2 In esophageal squamous cell carcinoma (ESCC), DMRTA1 is upregulated in chemotherapy-resistant tumors and forms a positive feedback loop with SOX2, promoting tumor progression and chemoresistance to cisplatin while facilitating immune escape. 2 DMRTA1 is overexpressed in the solid/pseudopapillary component of solid-tubulocystic intrahepatic cholangiocarcinoma. 3 HBV integration near the DMRTA1 locus (chr9.3) activates the mTOR pathway, contributing to intrahepatic cholangiocarcinoma development. 4 Genome-wide studies identify DMRTA1 genetic variants associated with dental fear and anxiety susceptibility, 5 chemotherapy-induced oral mucositis, 6 and sarcoma survival outcomes. 7 These findings suggest DMRTA1 participates in both immune regulation and cancer-related pathways with potential therapeutic targeting implications.

Sources cited
1
DMRTA1 is highly expressed in activated and memory CD8+ T cells and modulates early CD8+ T cell activation and granzyme B expression during viral infection
PMID: 41208110
2
DMRTA1 is upregulated in chemotherapy-resistant ESCC, forms positive feedback loop with SOX2, and promotes chemoresistance and immune escape
PMID: 37744275
3
DMRTA1 is uniquely overexpressed in the solid/pseudopapillary component of solid-tubulocystic intrahepatic cholangiocarcinoma
PMID: 40286787
4
HBV integration at chr9p21.3 between DMRTA1 and LINC01239 activates mTOR/4EBP/S6K pathway in intrahepatic cholangiocarcinoma
PMID: 34478159
5
DMRTA1 genetic variants are associated with dental fear and anxiety susceptibility in genome-wide association study
PMID: 35771046
6
DMRTA1 SNPs are associated with chemotherapy-induced oral mucositis in multiple myeloma patients
PMID: 25218607
7
DMRTA1 expression alterations in chr9p22.1-21.3 locus are associated with survival outcomes in sarcoma
PMID: 36288884
Disease Associationsⓘ20
diabetes mellitusOpen Targets
0.39Weak
dental cariesOpen Targets
0.38Weak
alcohol drinkingOpen Targets
0.34Weak
denturesOpen Targets
0.33Weak
endometriosisOpen Targets
0.30Weak
schizophreniaOpen Targets
0.30Weak
lymphoid leukemiaOpen Targets
0.29Weak
cervical carcinomaOpen Targets
0.29Weak
liver diseaseOpen Targets
0.28Weak
type 2 diabetes mellitusOpen Targets
0.28Weak
endometrial cancerOpen Targets
0.26Weak
endometrial carcinomaOpen Targets
0.25Weak
systemic lupus erythematosusOpen Targets
0.25Weak
chronic lymphocytic leukemiaOpen Targets
0.23Weak
nutritional deficiency diseaseOpen Targets
0.23Weak
cataractOpen Targets
0.23Weak
adolescent idiopathic scoliosisOpen Targets
0.22Weak
atopic eczemaOpen Targets
0.22Weak
poisoningOpen Targets
0.21Weak
response to xenobiotic stimulusOpen Targets
0.21Weak
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar ↗
Related Genes
DMRT2Shared pathway100%DMRTB1Shared pathway100%DMRTA2Shared pathway100%TSPY1Shared pathway50%CDKL2Shared pathway50%DMRT3Shared pathway50%
Tissue Expression6 tissues
Liver
100%
Brain
7%
Heart
7%
Lung
4%
Ovary
2%
Bone Marrow
1%
Gene Interaction Network
Click a node to explore
DMRTA1DMRT2DMRTB1DMRTA2TSPY1CDKL2DMRT3
PROTEIN STRUCTURE
Preparing viewer…
AlphaFoldAI-predicted · UniProt Q5VZB9
View on AlphaFold ↗
Constraintⓘ
LOEUFⓘ
1.28LoF Tolerant
pLIⓘ
0.00Tolerant
Observed/Expected LoF0.96 [0.74–1.28]
RankingsWhere DMRTA1 stands among ~20K protein-coding genes
  • #16,150of 20,598
    Most Researched13
  • #13,482of 17,882
    Most Constrained (LOEUF)1.28
Genes detectedDMRTA1
Sources retrieved10 papers
Response time—
📄 Sources
10▼
1
Genome-wide Scan of Dental Fear and Anxiety Nominates Novel Genes.
PMID: 35771046
J Dent Res · 2022
1.00
2
Defining molecular signatures of the solid/pseudopapillary and pseudoglandular patterns in so-called "solid-tubulocystic intrahepatic cholangiocarcinoma vs. NIPBL::NACC1 fusion hepatic carcinoma".
PMID: 40286787
Pathol Res Pract · 2025
0.90
3
The DMRTA1-SOX2 positive feedback loop promotes progression and chemotherapy resistance of esophageal squamous cell carcinoma.
PMID: 37744275
Oncol Res · 2023
0.80
4
Loss of Dmrta1 alters CD8+ T cell activation and resistance to influenza virus infection.
PMID: 41208110
Immunohorizons · 2025
0.70
5
Significance of Chr9p22.1-p21.3 Deletion in Cancer Development: A Pan-cancer
PMID: 36288884
Anticancer Res · 2022
0.60