Gene
DMRT1
doublesex and mab-3 related transcription factor 1
- HGNC 2934↗(opens in a new tab)
- Ensembl gene ENSG00000137090↗(opens in a new tab)
- NCBI Gene 1761↗(opens in a new tab)
Summary
- Cytogenetic location
- 9p24.3
- Coordinates
- Chromosome 9: 841,697–969,090 (GRCh38)
- Exons
- 5 exons across 127.4 kb
- Protein
- 373 amino acids
- Also known as
- DMT1, CT154
- MANE Select transcript
- ENST00000382276.8NM_021951.3
- Locus type
- gene with protein product
- Very high
- Confident
- Low
- Very low
Reference genomeGRCh38hg38
Positions on gene and variant pages follow this choice, in this browser.
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Get my Genome TestCurated reports relevant to this gene
46,XY Differences of Sex Development and Gonadal Dysgenesis
- 46,XY differences of sex development
Conditions in people with XY chromosomes in which gonadal or genital development is atypical, caused by variants in genes such as SRD5A2, HSD17B3, NR5A1, MAP3K1, DHH, WT1, CYP11A1 and LHCGR.
- ClinGen rates the link definitive
- 2 GenCC submitters rate it definitive or strong
What knowing changes
Diagnosis informs hormone treatment, fertility counselling and, where dysgenetic gonads carry Y material, assessment of gonadal tumour risk.
Male Infertility
The inability of the male to effect fertilization of an ovum after a specified period of unprotected intercourse. Male sterility is permanent infertility.
- ClinGen rates the link definitive
- 1 GenCC submitter rates it definitive or strong
How DMRT1 is laid out
- Coding sequence
- Untranslated region
- Intron
- Direction of transcription
- Stretches short reads find hard
Exons of the gene's MANE Select transcript (release v1.5), from NCBI and EMBL-EBI, on the GRCh38 reference genome.
Chromosome bands from UCSC's GRCh38 ideogram (2022-10-29).
Nearby genes from Ensembl release 116, on GRCh38.
Exons make up 2.2 kb of the gene's 127.4 kb; 1,122 of those bases code for the protein.
Genes linked to the same conditions
- ACTL9actin like 9Shares 1 condition
- ARandrogen receptorShares 1 condition
- ARMC2armadillo repeat containing 2Shares 1 condition
- ATRXATRX chromatin remodelerShares 1 condition
- AURKCaurora kinase CShares 1 condition
- BCORL1BCL6 corepressor like 1Shares 1 condition
- CFAP251cilia and flagella associated protein 251Shares 1 condition
- CFAP43cilia and flagella associated protein 43Shares 1 condition
- CYP11A1cytochrome P450 family 11 subfamily A member 1Shares 1 condition
- DHHdesert hedgehog signaling moleculeShares 1 condition
- DMC1DNA meiotic recombinase 1Shares 1 condition
- DNAH1dynein axonemal heavy chain 1Shares 1 condition
Traits linked to DMRT1
The Human Phenotype Ontology lists these as features of the rare conditions DMRT1 can cause. Each trait's page lists the other genes linked to it.
External links
Gene records
Transcript
Protein
Where this comes from
- HGNC: the gene's symbol, name, other symbols and location.
- MANE Select v1.5, from NCBI and EMBL-EBI: the transcript, its exons and coding sequence.
- GenCC and ClinGen, released 2026-10-16: which conditions the gene is linked to, and how strongly.
- The ACMG secondary findings list, SF v3.2.
- The Human Phenotype Ontology, release 2026-09-01: the traits linked to the gene. Find out more at hpo.jax.org.
- Data release 2026.10.16-c6eea6bf.
Cite this page
Dante Labs. (n.d.). DMRT1 gene: doublesex and mab-3 related transcription factor 1. Retrieved 16 October 2026, from https://dantelabs.com/genes/dmrt1
Dante Labs. DMRT1 gene: doublesex and mab-3 related transcription factor 1 [Internet]. [cited 16 October 2026]. Available from: https://dantelabs.com/genes/dmrt1
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