DMRT2 Chromosome 9
Doublesex and mab-3 related transcription factor 2
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What This Gene Does
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]
Associated Conditions (1)
DMRT2-related disorder
Key Variants
All Variants (3)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS138608089 | Health Risk | Conflicting classifications of pathogenicity | DMRT2-related disorder, DMRT2-related disorder |
| RS975457368 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS1489084379 | Health Risk | Pathogenic | — |