DMRT2 (doublesex and mab-3 related transcription factor 2)

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Gene miRNA Gene ontology Other IDs Protein Associated diseases Related genes Diseases linked via similar genes

Gene

• Entrez ID: 10655
• Gene name: Doublesex and mab-3 related transcription factor 2
• Gene symbol: DMRT2
• Synonyms (NCBI Gene): DSXL-2
• Chromosome: 9
• Chromosome location: 9p24.3
• 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

miRNA Show/Hide all (148)

miRTarBase ID	miRNA	Experiments	Reference
MIRT019316	hsa-miR-148b-3p	Microarray	17612493
MIRT719668	hsa-miR-3065-5p	HITS-CLIP	19536157
MIRT719667	hsa-miR-4270	HITS-CLIP	19536157
MIRT719666	hsa-miR-4441	HITS-CLIP	19536157
MIRT719665	hsa-miR-6754-5p	HITS-CLIP	19536157
MIRT719664	hsa-miR-7113-5p	HITS-CLIP	19536157
MIRT719663	hsa-miR-4755-3p	HITS-CLIP	19536157
MIRT719662	hsa-miR-1289	HITS-CLIP	19536157
MIRT719661	hsa-miR-505-3p	HITS-CLIP	19536157
MIRT719660	hsa-miR-7159-5p	HITS-CLIP	19536157
MIRT719659	hsa-miR-5006-5p	HITS-CLIP	19536157
MIRT719658	hsa-miR-4317	HITS-CLIP	19536157
MIRT574236	hsa-miR-181a-2-3p	PAR-CLIP	20371350
MIRT574235	hsa-miR-1273g-3p	PAR-CLIP	20371350
MIRT574234	hsa-miR-378g	PAR-CLIP	20371350
MIRT574233	hsa-miR-4731-5p	PAR-CLIP	20371350
MIRT574232	hsa-miR-4505	PAR-CLIP	20371350
MIRT574230	hsa-miR-5787	PAR-CLIP	20371350
MIRT574231	hsa-miR-4656	PAR-CLIP	20371350
MIRT574229	hsa-miR-6829-5p	PAR-CLIP	20371350
MIRT574228	hsa-miR-4492	PAR-CLIP	20371350
MIRT574227	hsa-miR-4498	PAR-CLIP	20371350
MIRT574226	hsa-miR-5001-5p	PAR-CLIP	20371350
MIRT574225	hsa-miR-762	PAR-CLIP	20371350
MIRT574223	hsa-miR-4675	PAR-CLIP	20371350
MIRT574224	hsa-miR-4741	PAR-CLIP	20371350
MIRT574222	hsa-miR-323a-5p	PAR-CLIP	20371350
MIRT574221	hsa-miR-876-3p	PAR-CLIP	20371350
MIRT574220	hsa-miR-203a-5p	PAR-CLIP	20371350
MIRT574219	hsa-miR-6509-3p	PAR-CLIP	20371350
MIRT574218	hsa-miR-4436b-5p	PAR-CLIP	20371350
MIRT574217	hsa-miR-1273e	PAR-CLIP	20371350
MIRT574216	hsa-miR-1587	PAR-CLIP	20371350
MIRT574215	hsa-miR-3620-5p	PAR-CLIP	20371350
MIRT574214	hsa-miR-218-1-3p	PAR-CLIP	20371350
MIRT447779	hsa-miR-2278	PAR-CLIP	22100165
MIRT447778	hsa-miR-15a-5p	PAR-CLIP	22100165
MIRT447777	hsa-miR-15b-5p	PAR-CLIP	22100165
MIRT447776	hsa-miR-16-5p	PAR-CLIP	22100165
MIRT447775	hsa-miR-195-5p	PAR-CLIP	22100165
MIRT447774	hsa-miR-424-5p	PAR-CLIP	22100165
MIRT447773	hsa-miR-497-5p	PAR-CLIP	22100165
MIRT447772	hsa-miR-6838-5p	PAR-CLIP	22100165
MIRT447770	hsa-miR-646	PAR-CLIP	22100165
MIRT447771	hsa-miR-6501-3p	PAR-CLIP	22100165
MIRT447769	hsa-miR-1253	PAR-CLIP	22100165
MIRT447768	hsa-miR-6770-5p	PAR-CLIP	22100165
MIRT447767	hsa-miR-580-3p	PAR-CLIP	22100165
MIRT447779	hsa-miR-2278	PAR-CLIP	22100165
MIRT447778	hsa-miR-15a-5p	PAR-CLIP	22100165
MIRT447777	hsa-miR-15b-5p	PAR-CLIP	22100165
MIRT447776	hsa-miR-16-5p	PAR-CLIP	22100165
MIRT447775	hsa-miR-195-5p	PAR-CLIP	22100165
MIRT447774	hsa-miR-424-5p	PAR-CLIP	22100165
MIRT447773	hsa-miR-497-5p	PAR-CLIP	22100165
MIRT447772	hsa-miR-6838-5p	PAR-CLIP	22100165
MIRT447770	hsa-miR-646	PAR-CLIP	22100165
MIRT447771	hsa-miR-6501-3p	PAR-CLIP	22100165
MIRT447769	hsa-miR-1253	PAR-CLIP	22100165
MIRT447768	hsa-miR-6770-5p	PAR-CLIP	22100165
MIRT447767	hsa-miR-580-3p	PAR-CLIP	22100165
MIRT447769	hsa-miR-1253	qRT-PCR	32922436
MIRT719668	hsa-miR-3065-5p	HITS-CLIP	19536157
MIRT719667	hsa-miR-4270	HITS-CLIP	19536157
MIRT719666	hsa-miR-4441	HITS-CLIP	19536157
MIRT719665	hsa-miR-6754-5p	HITS-CLIP	19536157
MIRT719664	hsa-miR-7113-5p	HITS-CLIP	19536157
MIRT719663	hsa-miR-4755-3p	HITS-CLIP	19536157
MIRT719662	hsa-miR-1289	HITS-CLIP	19536157
MIRT719661	hsa-miR-505-3p	HITS-CLIP	19536157
MIRT719660	hsa-miR-7159-5p	HITS-CLIP	19536157
MIRT719659	hsa-miR-5006-5p	HITS-CLIP	19536157
MIRT719658	hsa-miR-4317	HITS-CLIP	19536157
MIRT574236	hsa-miR-181a-2-3p	PAR-CLIP	20371350
MIRT574235	hsa-miR-1273g-3p	PAR-CLIP	20371350
MIRT574234	hsa-miR-378g	PAR-CLIP	20371350
MIRT574233	hsa-miR-4731-5p	PAR-CLIP	20371350
MIRT574232	hsa-miR-4505	PAR-CLIP	20371350
MIRT574230	hsa-miR-5787	PAR-CLIP	20371350
MIRT574231	hsa-miR-4656	PAR-CLIP	20371350
MIRT574229	hsa-miR-6829-5p	PAR-CLIP	20371350
MIRT574228	hsa-miR-4492	PAR-CLIP	20371350
MIRT574227	hsa-miR-4498	PAR-CLIP	20371350
MIRT574226	hsa-miR-5001-5p	PAR-CLIP	20371350
MIRT574225	hsa-miR-762	PAR-CLIP	20371350
MIRT574223	hsa-miR-4675	PAR-CLIP	20371350
MIRT574224	hsa-miR-4741	PAR-CLIP	20371350
MIRT574222	hsa-miR-323a-5p	PAR-CLIP	20371350
MIRT574221	hsa-miR-876-3p	PAR-CLIP	20371350
MIRT574220	hsa-miR-203a-5p	PAR-CLIP	20371350
MIRT574219	hsa-miR-6509-3p	PAR-CLIP	20371350
MIRT574218	hsa-miR-4436b-5p	PAR-CLIP	20371350
MIRT574217	hsa-miR-1273e	PAR-CLIP	20371350
MIRT574216	hsa-miR-1587	PAR-CLIP	20371350
MIRT574215	hsa-miR-3620-5p	PAR-CLIP	20371350
MIRT574214	hsa-miR-218-1-3p	PAR-CLIP	20371350
MIRT447779	hsa-miR-2278	PAR-CLIP	22100165
MIRT447778	hsa-miR-15a-5p	PAR-CLIP	22100165
MIRT447777	hsa-miR-15b-5p	PAR-CLIP	22100165
MIRT447776	hsa-miR-16-5p	PAR-CLIP	22100165
MIRT447775	hsa-miR-195-5p	PAR-CLIP	22100165
MIRT447774	hsa-miR-424-5p	PAR-CLIP	22100165
MIRT447773	hsa-miR-497-5p	PAR-CLIP	22100165
MIRT447772	hsa-miR-6838-5p	PAR-CLIP	22100165
MIRT447770	hsa-miR-646	PAR-CLIP	22100165
MIRT447771	hsa-miR-6501-3p	PAR-CLIP	22100165
MIRT447769	hsa-miR-1253	PAR-CLIP	22100165
MIRT447768	hsa-miR-6770-5p	PAR-CLIP	22100165
MIRT447767	hsa-miR-580-3p	PAR-CLIP	22100165
MIRT447779	hsa-miR-2278	PAR-CLIP	22100165
MIRT447778	hsa-miR-15a-5p	PAR-CLIP	22100165
MIRT447777	hsa-miR-15b-5p	PAR-CLIP	22100165
MIRT447776	hsa-miR-16-5p	PAR-CLIP	22100165
MIRT447775	hsa-miR-195-5p	PAR-CLIP	22100165
MIRT447774	hsa-miR-424-5p	PAR-CLIP	22100165
MIRT447773	hsa-miR-497-5p	PAR-CLIP	22100165
MIRT447772	hsa-miR-6838-5p	PAR-CLIP	22100165
MIRT447770	hsa-miR-646	PAR-CLIP	22100165
MIRT447771	hsa-miR-6501-3p	PAR-CLIP	22100165
MIRT447769	hsa-miR-1253	PAR-CLIP	22100165
MIRT447768	hsa-miR-6770-5p	PAR-CLIP	22100165
MIRT447767	hsa-miR-580-3p	PAR-CLIP	22100165
MIRT939212	hsa-miR-217	CLIP-seq
MIRT939213	hsa-miR-4418	CLIP-seq
MIRT939214	hsa-miR-4477a	CLIP-seq
MIRT939215	hsa-miR-4528	CLIP-seq
MIRT939216	hsa-miR-4659a-3p	CLIP-seq
MIRT939217	hsa-miR-4659b-3p	CLIP-seq
MIRT939218	hsa-miR-4772-3p	CLIP-seq
MIRT939219	hsa-miR-4778-3p	CLIP-seq
MIRT939220	hsa-miR-509-3-5p	CLIP-seq
MIRT939221	hsa-miR-509-5p	CLIP-seq
MIRT939222	hsa-miR-578	CLIP-seq
MIRT939223	hsa-miR-891b	CLIP-seq
MIRT2213182	hsa-miR-1343	CLIP-seq
MIRT2213183	hsa-miR-3074-5p	CLIP-seq
MIRT2213184	hsa-miR-3192	CLIP-seq
MIRT2213185	hsa-miR-3689a-3p	CLIP-seq
MIRT2213186	hsa-miR-3689c	CLIP-seq
MIRT2213187	hsa-miR-4728-5p	CLIP-seq
MIRT2516968	hsa-miR-3977	CLIP-seq
MIRT2516969	hsa-miR-421	CLIP-seq
MIRT2516970	hsa-miR-4327	CLIP-seq
MIRT2516971	hsa-miR-4709-5p	CLIP-seq
MIRT2516968	hsa-miR-3977	CLIP-seq
MIRT2516969	hsa-miR-421	CLIP-seq
MIRT2516970	hsa-miR-4327	CLIP-seq
MIRT2516971	hsa-miR-4709-5p	CLIP-seq

Gene ontology (GO) Show/Hide all (21)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000785	Component	Chromatin	ISA
GO:0000977	Function	RNA polymerase II transcription regulatory region sequence-specific DNA binding	IEA
GO:0000978	Function	RNA polymerase II cis-regulatory region sequence-specific DNA binding	IBA
GO:0000981	Function	DNA-binding transcription factor activity, RNA polymerase II-specific	IBA
GO:0000981	Function	DNA-binding transcription factor activity, RNA polymerase II-specific	ISA
GO:0001228	Function	DNA-binding transcription activator activity, RNA polymerase II-specific	IEA
GO:0003677	Function	DNA binding	IEA
GO:0005515	Function	Protein binding	IPI	32296183
GO:0005634	Component	Nucleus	IBA
GO:0005634	Component	Nucleus	IEA
GO:0006355	Process	Regulation of DNA-templated transcription	IEA
GO:0006357	Process	Regulation of transcription by RNA polymerase II	IBA
GO:0007548	Process	Sex differentiation	IBA
GO:0014807	Process	Regulation of somitogenesis	IEA
GO:0042802	Function	Identical protein binding	IEA
GO:0043565	Function	Sequence-specific DNA binding	IEA
GO:0045944	Process	Positive regulation of transcription by RNA polymerase II	IEA
GO:0046872	Function	Metal ion binding	IEA
GO:0048706	Process	Embryonic skeletal system development	IEA
GO:0061055	Process	Myotome development	IEA
GO:2000287	Process	Positive regulation of myotome development	IEA

Other IDs

• MIM: 604935
• HGNC: 2935
• e!Ensembl: ENSG00000173253

Protein

• UniProt ID: Q9Y5R5
• Protein name: Doublesex- and mab-3-related transcription factor 2 (Doublesex-like 2 protein) (DSXL-2)
• Protein function: Transcriptional activator that directly regulates early activation of the myogenic determination gene MYF5 by binding in a sequence-specific manner to the early epaxial enhancer element of it. Involved in somitogenesis during embryogenesis and s
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF00751	DM	119 → 165	DM DNA binding domain	Family

• Tissue specificity: TISSUE SPECIFICITY: Expressed in testis, kidney and skeletal muscle.
• Sequence:

  MADPQAGSAAGDWEIDVESLELEEDVCGAPRSTPPGPSPPPADGDCEDDEDDDGVDEDAE
  EEGDGEEAGASPGMPGQPEQRGGPQPRPPLAPQASPAGTGPRERCTPAGGGAEPRKLSRT
  PKCARCRNHGVVSCLKGHKRFCRWRDCQCANCLLVVERQRVMAAQVALRRQQATEDKKGL
  SGKQNNFERKAVYQRQVRAPSLLAKSILEGYRPIPAETYVGGTFPLPPPVSDRMRKRRAF
  ADKELENIMLEREYKEREMLETSQAAALFLPNRMVPGPDYNSYKSAYSPSPVEPPSKDFC
  NFLPTCLDLTMQYSGSGNMELISSNVSVATTYRQYPLSSRFLVWPKCGPISDTLLYQQCL
  LNATTSVQALKPGASWDLKGARVQDGLSAEQDMMPSKLEGSLVLPHTPEIQTTRSDLQGH
  QAVPERSAFSPPRRNFSPIVDTDSLAAQGHVLTKISKENTRHPLPLRHNPFHSLFQQTLT
  DKSGPELKTPFVKEAFEETPKKHRECLVKDNQKYTFTIDRCAKDLFVAKQVGTKLSVNEP
  LSFSVESILKRPSSAITRVSQ

• Sequence length: 561

Associated diseases

Evidence Score:

• ★☆☆☆☆  Gene-disease association found in Text Mining only
• ★★☆☆☆  Found in Text Mining and Unknown/Other Associations
• ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources
• ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants)
• ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)

Unknown / Other Associations Show/Hide Unknown Diseases (10)
Phenotype Name	Clinical Significance	Source	Reference	Evidence Score
CHRONIC OBSTRUCTIVE PULMONARY DISEASE	—	GWAS catalog	37069358	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DMRT2-related disorder	Benign; Likely benign; Uncertain significance; Conflicting classifications of pathogenicity	ClinVar	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Gonadal agenesis	Uncertain significance	ClinVar	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
JARCHO-LEVIN SYNDROME	—	Disgenet	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
LANGUAGE IMPAIRMENT	—	GWAS catalog	29724592	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SPERMATOCELE	—	GWAS catalog	39024449	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SPONDYLOCOSTAL DYSOSTOSIS	—	GenCC	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Thymoma	Likely benign	ClinVar	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
TYPE 2 DIABETES MELLITUS	—	GWAS catalog	39379762	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
UTERINE FIBROID	—	GWAS catalog	40050615	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining Show/Hide Text Mining Associations (13)
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Amenorrhea	Amenorrhea	Pubtator	36617173	Associate	★☆☆☆☆ Found in Text Mining only
Anemia, Sickle Cell	Anemia	BEFREE	29681102		★☆☆☆☆ Found in Text Mining only
Breast Neoplasms	Breast neoplasm	Pubtator	28036274	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma Renal Cell	Renal cell carcinoma	Pubtator	20502531	Associate	★☆☆☆☆ Found in Text Mining only
Chronic Lymphocytic Leukemia	Lymphocytic Leukemia	BEFREE	19729909		★☆☆☆☆ Found in Text Mining only
Disorder of Sex Development 46 XY	46, xy disorder of sex development	Pubtator	36617173	Associate	★☆☆☆☆ Found in Text Mining only
Esophageal Squamous Cell Carcinoma	Esophageal squamous cell carcinoma	Pubtator	24551190	Associate	★☆☆☆☆ Found in Text Mining only
Gonadal Dysgenesis	Gonadal Dysgenesis	BEFREE	10332030		★☆☆☆☆ Found in Text Mining only
Metabolic Syndrome	Metabolic syndrome	Pubtator	24504737	Associate	★☆☆☆☆ Found in Text Mining only
Obesity	Obesity	Pubtator	24504737	Associate	★☆☆☆☆ Found in Text Mining only
Renal carnitine transport defect	Renal Carnitine Transport Defect	BEFREE	29681102		★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma of esophagus	Esophagus Neoplasm	BEFREE	24551190		★☆☆☆☆ Found in Text Mining only
Turner Syndrome	Turner Syndrome	BEFREE	10332030		★☆☆☆☆ Found in Text Mining only

Related Genes

Sort by: Blended Diseases Pathways Evidence source

LFNG 2 shared diseasesSpondylocostal dysostosis, Jarcho-levin syndrome 2 shared evidence sourcesGenCC (Spondylocostal dysostosis), Disgenet (Jarcho-levin syndrome) Related via 2 shared diseases including Spondylocostal dysostosis, Jarcho-levin syndrome — evidence mostly GenCC. RIPPLY2 2 shared diseasesSpondylocostal dysostosis, Jarcho-levin syndrome 2 shared evidence sourcesGenCC (Spondylocostal dysostosis), Disgenet (Jarcho-levin syndrome) Related via 2 shared diseases including Spondylocostal dysostosis, Jarcho-levin syndrome — evidence mostly GenCC. HES7 2 shared diseasesSpondylocostal dysostosis, Jarcho-levin syndrome 1 shared evidence sourceDisgenet (Jarcho-levin syndrome) Related via 2 shared diseases including Spondylocostal dysostosis, Jarcho-levin syndrome — evidence mostly Disgenet. TBX6 2 shared diseasesSpondylocostal dysostosis, Jarcho-levin syndrome 1 shared evidence sourceDisgenet (Jarcho-levin syndrome) Related via 2 shared diseases including Spondylocostal dysostosis, Jarcho-levin syndrome — evidence mostly Disgenet. MESP2 2 shared diseasesSpondylocostal dysostosis, Jarcho-levin syndrome 1 shared evidence sourceDisgenet (Jarcho-levin syndrome) Related via 2 shared diseases including Spondylocostal dysostosis, Jarcho-levin syndrome — evidence mostly Disgenet.

Related Gene	Shared Diseases	Shared Disease Names	Shared Pathways	Shared Pathway Names	Shared Evidence Sources	Shared Evidence Names
LFNG	2	["Spondylocostal dysostosis","Jarcho-levin syndrome"]	0	[]	2	["GenCC (Spondylocostal dysostosis)","Disgenet (Jarcho-levin syndrome)"]
RIPPLY2	2	["Spondylocostal dysostosis","Jarcho-levin syndrome"]	0	[]	2	["GenCC (Spondylocostal dysostosis)","Disgenet (Jarcho-levin syndrome)"]
HES7	2	["Spondylocostal dysostosis","Jarcho-levin syndrome"]	0	[]	1	["Disgenet (Jarcho-levin syndrome)"]
TBX6	2	["Spondylocostal dysostosis","Jarcho-levin syndrome"]	0	[]	1	["Disgenet (Jarcho-levin syndrome)"]
MESP2	2	["Spondylocostal dysostosis","Jarcho-levin syndrome"]	0	[]	1	["Disgenet (Jarcho-levin syndrome)"]

Diseases Linked via Similar Genes

Desbuquois syndrome Linked via 5 of 5 related genesLFNG, RIPPLY2, HES7, TBX6, MESP2 Hypertension Linked via 2 of 5 related genesLFNG, HES7 Cardiovascular disease Linked via 1 of 5 related genesLFNG Color vision deficiency Linked via 1 of 5 related genesRIPPLY2 Klippel-feil syndrome Linked via 1 of 5 related genesRIPPLY2

Disease	Linked Via (Gene Count)	Linked Via (Gene Names)
Desbuquois syndrome	5	["LFNG","RIPPLY2","HES7","TBX6","MESP2"]
Hypertension	2	["LFNG","HES7"]
Cardiovascular disease	1	["LFNG"]
Color vision deficiency	1	["RIPPLY2"]
Klippel-feil syndrome	1	["RIPPLY2"]