• Gene id: 10655

Gene Summary

• Gene Symbol: DMRT2   Gene   UCSC   Ensembl
• Gene name: doublesex and mab-3 related transcription factor 2
• Alternate names: doublesex- and mab-3-related transcription factor 2, DSXL-2, doublesex-like 2 protein, terra-like protein,
• Gene location: 9p24.3 (216860058: 216859457)     Exons: 2     NC_000002.12
• Gene summary(Entrez): 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
• OMIM: 604935

Protein Summary

• Protein general information: Q9Y5R5  
  • Name: Doublesex and mab 3 related transcription factor 2 (Doublesex like 2 protein) (DSXL 2)
  • Length: 561  
  • Mass: 61,814
• Sequence:

  MADPQAGSAAGDWEIDVESLELEEDVCGAPRSTPPGPSPPPADGDCEDDEDDDGVDEDAEEEGDGEEAGASPGMP
  GQPEQRGGPQPRPPLAPQASPAGTGPRERCTPAGGGAEPRKLSRTPKCARCRNHGVVSCLKGHKRFCRWRDCQCA
  NCLLVVERQRVMAAQVALRRQQATEDKKGLSGKQNNFERKAVYQRQVRAPSLLAKSILEGYRPIPAETYVGGTFP
  LPPPVSDRMRKRRAFADKELENIMLEREYKEREMLETSQAAALFLPNRMVPGPDYNSYKSAYSPSPVEPPSKDFC
  NFLPTCLDLTMQYSGSGNMELISSNVSVATTYRQYPLSSRFLVWPKCGPISDTLLYQQCLLNATTSVQALKPGAS
  WDLKGARVQDGLSAEQDMMPSKLEGSLVLPHTPEIQTTRSDLQGHQAVPERSAFSPPRRNFSPIVDTDSLAAQGH
  VLTKISKENTRHPLPLRHNPFHSLFQQTLTDKSGPELKTPFVKEAFEETPKKHRECLVKDNQKYTFTIDRCAKDL
  FVAKQVGTKLSVNEPLSFSVESILKRPSSAITRVSQ

• Structural information:
  • Interpro: IPR001275  IPR036407  IPR026607  
  • Prosite: PS40000 PS50809
  • STRING: ENSP00000305785
• Other Databases: GeneCards:  DMRT2  Malacards:  DMRT2

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0000977	RNA polymerase II regulatory region sequence-specific DNA binding	IEA	molecular function
GO:0000987	core promoter proximal region sequence-specific DNA binding	IBA	molecular function
GO:0003674	molecular_function	ND	molecular function
GO:0003700	transcription factor activity, sequence-specific DNA binding	IBA	molecular function
GO:0005575	cellular_component	ND	cellular component
GO:0005634	nucleus	IBA	cellular component
GO:0006351	transcription, DNA-templated	IEA	biological process
GO:0007548	sex differentiation	IBA	biological process
GO:0008150	biological_process	ND	biological process
GO:0014807	regulation of somitogenesis	IEA	biological process
GO:0042803	protein homodimerization activity	IBA	molecular function
GO:0045944	positive regulation of transcription from RNA polymerase II promoter	IEA	biological process
GO:0046872	metal ion binding	IEA	molecular function
GO:0048706	embryonic skeletal system development	IEA	biological process
GO:2000287	positive regulation of myotome development	IEA	biological process
GO:0000977	RNA polymerase II regulatory region sequence-specific DNA binding	IEA	molecular function
GO:0000987	core promoter proximal region sequence-specific DNA binding	IBA	molecular function
GO:0003674	molecular_function	ND	molecular function
GO:0003677	DNA binding	IEA	molecular function
GO:0003700	transcription factor activity, sequence-specific DNA binding	IEA	molecular function
GO:0003700	transcription factor activity, sequence-specific DNA binding	IBA	molecular function
GO:0005575	cellular_component	ND	cellular component
GO:0005634	nucleus	IEA	cellular component
GO:0005634	nucleus	IBA	cellular component
GO:0005634	nucleus	IEA	cellular component
GO:0005634	nucleus	IEA	cellular component
GO:0006351	transcription, DNA-templated	IEA	biological process
GO:0006355	regulation of transcription, DNA-templated	IEA	biological process
GO:0006355	regulation of transcription, DNA-templated	IEA	biological process
GO:0007548	sex differentiation	IBA	biological process
GO:0008150	biological_process	ND	biological process
GO:0014807	regulation of somitogenesis	IEA	biological process
GO:0042803	protein homodimerization activity	IEA	molecular function
GO:0042803	protein homodimerization activity	IBA	molecular function
GO:0043565	sequence-specific DNA binding	IEA	molecular function
GO:0043565	sequence-specific DNA binding	IEA	molecular function
GO:0045944	positive regulation of transcription from RNA polymerase II promoter	IEA	biological process
GO:0046872	metal ion binding	IEA	molecular function
GO:0048706	embryonic skeletal system development	IEA	biological process
GO:2000287	positive regulation of myotome development	IEA	biological process
GO:0000987	core promoter proximal region sequence-specific DNA binding	IBA	molecular function
GO:0003674	molecular_function	ND	molecular function
GO:0003700	transcription factor activity, sequence-specific DNA binding	IBA	molecular function
GO:0005575	cellular_component	ND	cellular component
GO:0005634	nucleus	IBA	cellular component
GO:0007548	sex differentiation	IBA	biological process
GO:0008150	biological_process	ND	biological process
GO:0042803	protein homodimerization activity	IBA	molecular function

Diseases

Associated diseases	References
Attention deficit hyperactivity disorder (ADHD)	GAD: 18821565
Male factor infertility	MIK: 24996497
Infertility	MIK: 24996497
Idiopathic infertility	MIK: 24996497
Spermatogenic defects	MIK: 31037746

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
24996497	Idiopathic infertility				Male infertility
31037746	Spermatogenic defects			16 (1 control, 15 cases)	Male infertility	GSE6023 analyzed using GEO2R