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gene: DMRT2

id10655
symbolDMRT2
organismHomo sapiens
full namedoublesex and mab-3 related transcription factor 2
summaryThe 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]
variant-disease

GRCh37/hg19 9p24.3(chr9:1002280-1130580)x3 AND not provided

GRCh37/hg19 9p24.3(chr9:691104-1063787)x1 AND not specified

GRCh37/hg19 9p24.3(chr9:735509-1270931)x3 AND not provided

GRCh37/hg19 9p24.3(chr9:637963-1138636)x3 AND See cases

GRCh38/hg38 9p24.3(chr9:910389-1457606)x3 AND See cases

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