DMRT1 (doublesex and mab-3 related transcription factor 1)

2010-03-01  

Identity

HGNC
LOCATION
9p24.3
LOCUSID
ALIAS
CT154,DMT1
FUSION GENES

Other Information

Locus ID:

NCBI: 1761
MIM: 602424
HGNC: 2934
Ensembl: ENSG00000137090

Variants:

dbSNP: 1761
ClinVar: 1761
TCGA: ENSG00000137090
COSMIC: DMRT1

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000137090ENST00000382276Q9Y5R6
ENSG00000137090ENST00000569227H3BN61

Expression (GTEx)

0
5
10
15
20
25
30
35
40
45
50

Protein levels (Protein atlas)

Not detected
Low
Medium
High

References

Pubmed IDYearTitleCitations
365726232023Functional assessment of DMRT1 variants and their pathogenicity for isolated male infertility.0
377098222023DMRT1 regulates human germline commitment.6
365726232023Functional assessment of DMRT1 variants and their pathogenicity for isolated male infertility.0
377098222023DMRT1 regulates human germline commitment.6
300679482018Protein expression of the transcription factors DMRT1, TCLF5, and OCT4 in selected germ cell neoplasms of the testis.4
302721542018DMRT1 repression using a novel approach to genetic manipulation induces testicular dysgenesis in human fetal gonads.8
300679482018Protein expression of the transcription factors DMRT1, TCLF5, and OCT4 in selected germ cell neoplasms of the testis.4
302721542018DMRT1 repression using a novel approach to genetic manipulation induces testicular dysgenesis in human fetal gonads.8
269060822016Doublesex and mab-3 related transcription factor 1 (DMRT1) is a sex-specific genetic determinant of childhood-onset asthma and is expressed in testis and macrophages.9
269060822016Doublesex and mab-3 related transcription factor 1 (DMRT1) is a sex-specific genetic determinant of childhood-onset asthma and is expressed in testis and macrophages.9
260058642015An ancient protein-DNA interaction underlying metazoan sex determination.46
261395702015Rare double sex and mab-3-related transcription factor 1 regulatory variants in severe spermatogenic failure.7
260058642015An ancient protein-DNA interaction underlying metazoan sex determination.46
261395702015Rare double sex and mab-3-related transcription factor 1 regulatory variants in severe spermatogenic failure.7
249344912014DMRT1 mutations are rarely associated with male infertility.15

Citation

Dessen P

DMRT1 (doublesex and mab-3 related transcription factor 1)

Atlas Genet Cytogenet Oncol Haematol. 2010-03-01

Online version: http://atlasgeneticsoncology.org/gene/52809/dmrt1