DMRT2 - doublesex and mab-3 related transcription factor 2 Gene

Also Known as DSXL-2

Species: Homo sapiens

Gene Type: protein coding
Gene ID: 10655

About DMRT2

Cytogenetic location: 9p24.3 Genomic coordinates (GRCh38): 9:1,050,357-1,057,552 (from NCBI)

This gene has 9 transcripts (splice variants), 210 orthologues and 8 paralogues. Biased expression in kidney (RPKM 4.2), fat (RPKM 1.8) and 2 other tissues.

Summary

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]

DMRT2 Products (10)

mRNA Protein Name
NM_001130865.3 NP_001124337.1 doublesex- and mab-3-related transcription factor 2 isoform 1
NM_001370531.1 NP_001357460.1 doublesex- and mab-3-related transcription factor 2 isoform 1
NM_001370532.1 NP_001357461.1 doublesex- and mab-3-related transcription factor 2 isoform 3
NM_001370533.1 NP_001357462.1 doublesex- and mab-3-related transcription factor 2 isoform 1
NM_001387557.1 NP_001374486.1 doublesex- and mab-3-related transcription factor 2 isoform 1
NM_001387558.1 NP_001374487.1 doublesex- and mab-3-related transcription factor 2 isoform 2
NM_001387559.1 NP_001374488.1 doublesex- and mab-3-related transcription factor 2 isoform 2
NM_001387560.1 NP_001374489.1 doublesex- and mab-3-related transcription factor 2 isoform 4
NM_006557.7 NP_006548.1 doublesex- and mab-3-related transcription factor 2 isoform 1
NM_181872.6 NP_870987.2 doublesex- and mab-3-related transcription factor 2 isoform 2

Gene Ontology

  • Molecular Function
Molecular Function GO Annotation Evidence References Source
enables protein binding IPI
IPI: Inferred from physical interaction
32296183 GOA
EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

DMRT2 Protein Structure

DM

DM: DM DNA binding domain (119 - 165)

  • 0
  • 100
  • 200
  • 300
  • 400
  • 500
  • 561 a.a.
Protein Preferred Names Protein Names

doublesex- and mab-3-related transcription factor 2

  • doublesex-like 2 protein

DMRT2 Protein-protein interaction Information

Type
Protein Name Protein ID Interactor Interactor Species Interactor ID Detection Method References
Intra
DMRT2 Q9Y5R5 TLE5 Homo sapiens Q08117-2
Y2H Array
32296183
Intra
DMRT2 Q9Y5R5 TLE5 Homo sapiens Q08117-2
Y2H Prey Pooling
32296183
Intra
DMRT2 Q9Y5R5 MAGED1 Homo sapiens Q9Y5V3
Y2H Prey Pooling
32296183
Intra
DMRT2 Q9Y5R5 MAGED1 Homo sapiens Q9Y5V3
Validated Y2H
32296183
Intra
DMRT2 Q9Y5R5 MAGED1 Homo sapiens Q9Y5V3
Y2H Array
32296183
Cross: Cross-species interaction Intra: Intraspecies interaction

Related Diseases

Diseases Alias
Ovarian Gonadoblastoma
Gonadal Dysgenesis

  • Gonadal Dysgenesis Syndrome

  • Turner Syndrome
Hermaphroditism
Chromosome 9p Deletion Syndrome

  • Monosomy 9p

  • Monosomy 9p Syndrome

  • Alfi Syndrome

  • 9p Syndrome

  • Chromosome 9p Deletion

  • 9p Deletion

  • 9p Monosomy

  • Deletion 9p

  • Partial Monosomy 9p

  • 9p Deletion Syndrome

  • 9p- Syndrome

  • Alfi'S Syndrome

  • Chromosome 9, Partial Trisomy 9p
46,Xy Sex Reversal

  • Swyer Syndrome

  • Pure Gonadal Dysgenesis 46,Xy

  • Gonadal Dysgenesis, Xy Female Type

  • Gonadal Dysgenesis, 46,Xy

  • 46,Xy Cgd

  • 46,Xy Complete Gonadal Dysgenesis

  • 46,Xy Pure Gonadal Dysgenesis

  • 46 Xy Gonadal Dysgenesis

  • 46, Xy Cgd

  • 46, Xy Complete Gonadal Dysgenesis

  • 46, Xy Pure Gonadal Dysgenesis

  • Xy Pure Gonadal Dysgenesis

  • Female With 46,Xy Karyotype

  • Xy Females
Spondylocostal Dysostosis

  • Jarcho-Levin Syndrome

  • Costovertebral Dysplasia

  • Spondylothoracic Dysostosis

  • Spondylothoracic Dysplasia

  • Scdo

  • Dysostosis, Spondylocostal
Wilms Tumor, Aniridia, Genitourinary Anomalies, And Mental Retardation Syndrome

  • Wagr Syndrome

  • 11p Partial Monosomy Syndrome

  • Chromosome 11p13 Deletion Syndrome

  • Wilms Tumor, Aniridia, Genitourinary Anomalies And Mental Retardation Syndrome

  • 11p Deletion Syndrome

  • Chromosome 11p Deletion Syndrome

  • Wagr Complex

  • Wilms Tumor-Aniridia-Genitourinary Anomalies-Intellectual Disability Syndrome

  • Deletion 11p13

  • WAGR

  • Wilms Tumor-Aniridia-Genitourinary Anomalies-Mental Retardation Syndrome

  • Chromosome 11p Deletion

  • 11p Deletion

  • 11p Monosomy

  • Deletion 11p

  • Monosomy 11p

  • Partial Monosomy 11p

  • Agr Triad

  • Wilms Tumor-Aniridia-Gonadoblastoma-Mental Retardation Syndrome

  • Wilms Tumor, Aniridia, Genitourinary Anomalies, Mental Retardation Syndrome

  • Wagr Contiguous Gene Syndrome

  • Wilms Tumor-Aniridia-Genital Anomalies-Retardation Syndrome

  • Wilms Tumor-Aniridia-Genitourinary Anomalies-Mr Syndrome

  • Del(11)(P13)

  • Monosomy 11p13

  • Chromosome 11, Deletion 11p
Spermatocytoma

  • Spermatocytic Seminoma
Disorder Of Sexual Development

  • Disorder Of Sex Development

  • Disorders Of Sex Development

  • Sex Development Disorder

  • Sex Differentiation Disease

  • Dsd

  • Sex Differentiation Disorders
Diseases Alias
Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Related Agents

  • Pre-clinical Phase

Pre-clinical Phase

Bioactive Molecules (3)
Cat. No. 상품명
효과
Purity
Rare Diseases
HY-RS03829 DMRT2 Human Pre-designed siRNA Set A Pre-designed Set / Unkown
HY-RS21557 Dmrt2 Mouse Pre-designed siRNA Set A Pre-designed Set / Unkown
HY-RS28075 Dmrt2 Rat Pre-designed siRNA Set A Pre-designed Set / Unkown

Orthologs Information

Species Symbol Source ID
Rattus norvegicus DMRT2 RGD RGD:1309047
Canis familiaris DMRT2 VGNC VGNC:56916
Macaca mulatta DMRT2 VGNC VGNC:71934
Mus musculus DMRT2 MGD MGI:1330307
Felis catus DMRT2 VGNC VGNC:61529
Bos taurus DMRT2 VGNC VGNC:28111
Others DMRT2 NCBI