DMRT2

Chr 9

doublesex and mab-3 related transcription factor 2

Also known as: DSXL-2, SCDO7

The protein encoded by this gene belongs to the DMRT gene family, sharing a DM DNA-binding domain with Drosophila 'doublesex' (dsx) and C. elegans mab3, genes involved in sex determination in these organisms. Also, this gene is located in a region of the human genome (chromosome 9p24.3) associated with gonadal dysgenesis and XY sex reversal. Hence this gene is one of the candidates for sex-determining gene(s) on chr 9. [provided by RefSeq, Apr 2010]

ResearchGenerating clinical summary…

Primary Disease Associations & Inheritance

UniProtSpondylocostal dysostosis 7, autosomal recessive
0
Active trials
19
Pubs (1 yr)
P/LP submissions
P/LP missense
0.76
LOEUF
DN
Mechanism· predicted
Some data sources returned errors (1)

omim: Error: OMIM fetch failed: 429

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

Tolerant — LoF & missense variants common in population
LoF Constraint?
0.76LOEUF
pLI 0.010
Z-score 2.26
OE 0.38 (0.210.76)
Tolerant

Typical tolerance to LoF variation

Missense Constraint?
-2.06Z-score
OE missense 1.36 (1.251.49)
350 obs / 257.0 exp
Tolerant

Tolerant to missense variation

Observed / Expected Ratios?
LoF OE?0.38 (0.210.76)
00.351.4
Missense OE?1.36 (1.251.49)
00.61.4
Synonymous OE?1.34
01.21.6
LoF obs/exp: 6 / 15.7Missense obs/exp: 350 / 257.0Syn Z: -2.74

ClinVar Variant Classifications

0 submitted variants 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.

Clinical Trials

Active and recruiting trials from ClinicalTrials.gov

No active trials found for this gene.

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