DMRT2
Chr 9ARdoublesex and mab-3 related transcription factor 2
Also known as: DSXL-2, SCDO7
The protein is a transcriptional activator that directly regulates the myogenic determination gene MYF5 and is essential for somitogenesis during embryogenesis, controlling somite development and differentiation into sclerotome and dermomyotome. Mutations cause spondylocostal dysostosis 7, a skeletal disorder affecting vertebral and rib development, with autosomal recessive inheritance. The gene shows low constraint to loss-of-function variation, consistent with its recessive disease association.
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
Typical tolerance to LoF variation
Tolerant to missense variation
The highest-scoring mechanism for this gene is dominant-negative.
Note: In-silico variant effect predictors (SIFT, PolyPhen, REVEL, CADD) may underestimate pathogenicity of missense variants in genes with GOF or DN mechanisms. Consider functional evidence and clinical context.
Predictions from Badonyi M, Marsh JA. PLoS ONE. 2024;19(8):e0307312.
ClinVar Variant Classifications
457 submitted variants in ClinVar
Classification Summary
Curated Variants Distribution
Classified variants from ClinVar · 5 ACMG categories
| Classification | LoF | Missense + Inframe | Non-coding | Synonymous | Total |
|---|---|---|---|---|---|
Pathogenic | 0 | 1 | 167 | 0 | 168 |
Likely Pathogenic | 1 | 0 | 7 | 0 | 8 |
VUS | 3 | 178 | 27 | 2 | 210 |
Likely Benign | 0 | 7 | 9 | 39 | 55 |
Benign | 0 | 5 | 0 | 3 | 8 |
Conflicting | — | 2 | |||
| Total | 4 | 191 | 210 | 44 | 451 |
LoF = frameshift, stop gained/lost, canonical splice · Counts from ClinVar esearch · Updated hourly
View in ClinVar →Protein Context — Lollipop Plot
DMRT2 · protein map & ClinVar variants
Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.
3D Protein StructureAlphaFold
External Resources
Links to major genomics databases and tools
Clinical Trials
Active and recruiting trials from ClinicalTrials.gov
No active trials found for this gene.
Search ClinicalTrials.gov →External Resources
Links to major genomics databases and tools