DMRTA2

Chr 1

DMRT like family A2

NCBI Gene: 63950ENSG00000142700UniProt: Q96SC8OMIM: 614804

DMRTA2 encodes a transcription factor that binds DNA and regulates gene expression, with predicted roles in nervous system development and sexual differentiation. Mutations cause autosomal dominant intellectual disability with developmental delay, and the gene is highly constrained against loss-of-function variants (pLI 0.92, LOEUF 0.38). The condition primarily affects neurodevelopment with onset in early childhood.

OMIMResearchSummary from RefSeq, UniProt
LOFmechanismLOEUF 0.38
Clinical Summary— DMRTA2
⚡
Population Constraint (gnomAD)
Highly constrained gene — heterozygous loss-of-function variants are very rare in the population (pLI 0.92). One damaged copy is likely sufficient to cause disease.
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Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD
LoF intolerant — likely haploinsufficient
LoF Constraint
0.38LOEUF
pLI 0.916
Z-score 2.61
OE 0.00 (0.00–0.38)
Highly constrained

More LoF-intolerant than ~75% of genes

Missense Constraint
1.40Z-score
OE missense 0.72 (0.63–0.83)
141 obs / 196.3 exp
Tolerant

Mild missense constraint

Observed / Expected Ratios
LoF OE0.00 (0.00–0.38)
0≤0.351.4
Missense OE0.72 (0.63–0.83)
0≤0.61.4
Synonymous OE1.15
0≤1.21.6
LoF obs/exp: 0 / 8.0Missense obs/exp: 141 / 196.3Syn Z: -1.13
DN
0.3991th %ile
GOF
0.3293th %ile
LOF
0.81top 5%

The highest-scoring mechanism for this gene is loss-of-function (haploinsufficiency).

LOFprediction above median · LOEUF 0.38

Predictions from Badonyi M, Marsh JA. PLoS ONE. 2024;19(8):e0307312. Mechanism ranking also informed by gnomAD constraint, ClinVar, and ClinGen data.

ClinVar Variant Classifications

0 submitted variants in ClinVar

ClinVar

Protein Context — Lollipop Plot

DMRTA2 · protein map & ClinVar variants

Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.

3D Protein StructureAlphaFold

Clinical Trials

Active and recruiting trials from ClinicalTrials.gov

ClinicalTrials.gov

No active trials found for this gene.

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Clinical Literature
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Full-Text Mentions
NLP-detected gene mentions in article bodies · via PubTator3
PubTator3
Top 5 full-text resultsSearch PubTator3 ↗
Recent Gene-Specific Literature
Gene in title · MEDLINE · newest first
Europe PMC
DMRTA2 Regulates Radial Glial Maintenance and Tumorigenicity of Paediatric High-Grade Glioma.
Royston HN et al.·J Cell Mol Med
2026Open Access
Integrated yeast one-hybrid and molecular docking reveal the binding specificity of FTZ-F1 to GnRHR and Dmrta2 promoters in the scallop, Chlamys farreri.
Fu H et al.·Comp Biochem Physiol B Biochem Mol Biol
2025
Novel Insights into Emx2 and Dmrta2 Cooperation during Cortex Development and Evidence for Dmrta2 Function in the Choroid Plexus.
Anirudhan J et al.·J Neurosci
2025
The Interaction of DMRTA2 with HSP90β Inhibits p53 Ubiquitination and Activates the p53 Pathway to Suppress the Malignant Progression of Non-Small-Cell Lung Cancer.
Deng S et al.·Curr Issues Mol Biol
2025Open Access
Evidence That Dmrta2 Acts through Repression of Pax6 in Cortical Patterning and Identification of a Mutation Impairing DNA Recognition Associated with Microcephaly in Human.
Shen X et al.·eNeuro
2025Open Access
Top 5 resultsSearch Europe PMC ↗

External Resources

Links to major genomics databases and tools

Franklin by Genoox
AI-powered variant curation and clinical analysis
DECIPHER
Genomic variants and phenotypes in rare disease patients