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10 sources retrieved · Most recent: April 2026 · Index updated 15 days ago
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DMRTA2
DMRT like family A2
Chromosome 1 · 1p32.3
NCBI Gene: 63950Ensembl: ENSG00000142700.13HGNC: HGNC:13908UniProt: Q96SC8
9PubMed Papers
20Diseases
0Drugs
0Pathogenic Variants
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
sequence-specific double-stranded DNA bindingnucleuschromatinsex differentiationbreast diseaseHerniamigraine disordermathematical ability
✦AI Summary

DMRTA2 (DMRT5) is a transcription factor that plays critical roles in neural development and sexual differentiation. In cortical development, DMRTA2 acts as a transcriptional repressor that maintains cortical identity in dorsal telencephalic progenitors by suppressing Pax6 expression and cooperating with it in cortical patterning 1. The protein binds DNA in a sequence-specific manner and interacts with the NuRD repressor complex to regulate gene expression 1. DMRTA2 is essential for maintaining radial glial cells and neural progenitor populations during brain development 2. In reproductive biology, DMRTA2 is required for proper female germ cell development, specifically for oogonia differentiation prior to meiotic entry 3. Disease relevance includes severe cortical malformations, as loss-of-function mutations cause pachygyria, corpus callosum agenesis, and microcephaly 4. DMRTA2 is also highly expressed in glioblastoma, where it supports glioma stem cell maintenance and tumor neovascularization 5, and in pediatric high-grade gliomas, where it regulates tumor cell stemness 2. Clinically, DMRTA2 methylation serves as a biomarker for bladder cancer detection with high sensitivity and specificity 6, and is part of prognostic signatures in head and neck cancer 7.

Sources cited
1
DMRTA2 acts as transcriptional repressor of Pax6 in cortical development and binds NuRD complex
PMID: 40541527
2
DMRTA2 maintains radial glial cells and is expressed in pediatric high-grade gliomas
PMID: 41844556
3
DMRTA2 is required for human female germ cell development and oogonia differentiation
PMID: 25082981
4
Loss-of-function mutations cause severe cortical malformations including pachygyria
PMID: 26757254
5
DMRTA2 supports glioma stem cells and neovascularization in glioblastoma
PMID: 38509074
6
DMRTA2 methylation serves as biomarker for bladder cancer detection
PMID: 35524222
7
DMRTA2 is part of prognostic signatures in head and neck cancer
PMID: 36425940
Disease Associationsⓘ20
breast diseaseOpen Targets
0.28Weak
HerniaOpen Targets
0.28Weak
migraine disorderOpen Targets
0.27Weak
mathematical abilityOpen Targets
0.26Weak
obesityOpen Targets
0.25Weak
SnoringOpen Targets
0.24Weak
Back painOpen Targets
0.24Weak
liver diseaseOpen Targets
0.24Weak
type 2 diabetes mellitusOpen Targets
0.24Weak
pericarditisOpen Targets
0.24Weak
Disorder of lipid metabolismOpen Targets
0.24Weak
Alzheimer diseaseOpen Targets
0.23Weak
goutOpen Targets
0.23Weak
PainOpen Targets
0.22Weak
Inguinal herniaOpen Targets
0.21Weak
smoking initiationOpen Targets
0.20Weak
complicationOpen Targets
0.19Weak
endocrine system diseaseOpen Targets
0.19Weak
diabetes mellitusOpen Targets
0.19Weak
bladder calculusOpen Targets
0.18Weak
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar ↗
Related Genes
DMRT2Shared pathway100%DMRTB1Shared pathway100%DMRTA1Shared pathway100%TSPY1Shared pathway50%CDKL2Shared pathway50%DMRT3Shared pathway50%
Tissue Expression6 tissues
Brain
100%
Bone Marrow
0%
Ovary
0%
Lung
0%
Heart
0%
Liver
0%
Gene Interaction Network
Click a node to explore
DMRTA2DMRT2DMRTB1DMRTA1TSPY1CDKL2DMRT3
PROTEIN STRUCTURE
Preparing viewer…
AlphaFoldAI-predicted · UniProt Q96SC8
View on AlphaFold ↗
Constraintⓘ
LOEUFⓘ
1.24LoF Tolerant
pLIⓘ
0.01Tolerant
Observed/Expected LoF0.69 [0.40–1.24]
RankingsWhere DMRTA2 stands among ~20K protein-coding genes
  • #17,314of 20,598
    Most Researched9
  • #13,034of 17,882
    Most Constrained (LOEUF)1.24
Genes detectedDMRTA2
Sources retrieved10 papers
Response time—
📄 Sources
10▼
1
Evidence That Dmrta2 Acts through Repression of
PMID: 40541527
eNeuro · 2025
1.00
2
DMRTA2 supports glioma stem-cell mediated neovascularization in glioblastoma.
PMID: 38509074
Cell Death Dis · 2024
0.90
3
Cloning the Dmrt1 and DmrtA2 genes of ayu (Plecoglossus altivelis) and mapping their expression in adult, larval, and embryonic stages.
PMID: 24668652
Dongwuxue Yanjiu · 2014
0.80
4
A novel and sensitive DNA methylation marker for the urine-based liquid biopsies to detect bladder cancer.
PMID: 35524222
BMC Cancer · 2022
0.70
5
DMRTA2 Regulates Radial Glial Maintenance and Tumorigenicity of Paediatric High-Grade Glioma.
PMID: 41844556
J Cell Mol Med · 2026
0.60