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

Homo sapiens

Also known as DSXL-2

Gene ID: 10655 | Gene type: protein coding

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	Reference	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

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 Cross Intra	Protein Name	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	Reference
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

Bioactive Molecules (2)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS03829	DMRT2 Human Pre-designed siRNA Set A	Pre-designed Sets	/	Unkown
HY-RS21557	Dmrt2 Mouse Pre-designed siRNA Set A	Pre-designed Sets	/	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

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