Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene information from NCBI Gene database. Gene miRNA Gene ontology Other IDs Protein Associated diseases
Entrez ID	58524
Gene name	Doublesex and mab-3 related transcription factor 3
Gene symbol	DMRT3
Synonyms (NCBI Gene)	DMRTA3
Chromosome	9
Chromosome location	9p24.3

Show/Hide all (19)

miRTarBase ID	miRNA	Experiments	Reference
MIRT018492	hsa-miR-335-5p	Microarray	18185580
MIRT939224	hsa-miR-3622a-3p	CLIP-seq
MIRT939225	hsa-miR-3622b-3p	CLIP-seq
MIRT939226	hsa-miR-4701-5p	CLIP-seq
MIRT939227	hsa-miR-588	CLIP-seq
MIRT1977848	hsa-miR-543	CLIP-seq
MIRT2213188	hsa-miR-1297	CLIP-seq
MIRT2213189	hsa-miR-26a	CLIP-seq
MIRT2213190	hsa-miR-26b	CLIP-seq
MIRT2213191	hsa-miR-33a	CLIP-seq
MIRT2213192	hsa-miR-33b	CLIP-seq
MIRT2213193	hsa-miR-4465	CLIP-seq
MIRT2213194	hsa-miR-4795-3p	CLIP-seq
MIRT2213195	hsa-miR-656	CLIP-seq
MIRT2428268	hsa-miR-3143	CLIP-seq
MIRT2428269	hsa-miR-3940-5p	CLIP-seq
MIRT2428270	hsa-miR-4507	CLIP-seq
MIRT1977848	hsa-miR-543	CLIP-seq
MIRT2428271	hsa-miR-629	CLIP-seq

Show/Hide all (23)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000785	Component	Chromatin	ISA
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:0003677	Function	DNA binding	IEA
GO:0005515	Function	Protein binding	IPI	25416956, 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:0007548	Process	Sex differentiation	IEA
GO:0007548	Process	Sex differentiation	NAS	10729223
GO:0007628	Process	Adult walking behavior	IEA
GO:0008344	Process	Adult locomotory behavior	IBA
GO:0019226	Process	Transmission of nerve impulse	IEA
GO:0021521	Process	Ventral spinal cord interneuron specification	IEA
GO:0030154	Process	Cell differentiation	IEA
GO:0042487	Process	Regulation of odontogenesis of dentin-containing tooth	IEA
GO:0043565	Function	Sequence-specific DNA binding	IEA
GO:0046661	Process	Male sex differentiation	IEA
GO:0046872	Function	Metal ion binding	IEA
GO:1990837	Function	Sequence-specific double-stranded DNA binding	IDA	28473536

MIM	HGNC	e!Ensembl
614754	13909	ENSG00000064218

Q9NQL9

Protein name

Doublesex- and mab-3-related transcription factor 3

Protein function

Probable transcription factor that plays a role in configuring the spinal circuits controlling stride in vertebrates. Involved in neuronal specification within specific subdivision of spinal cord neurons and in the development of a coordinated l

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF00751	DM	25 → 71	DM DNA binding domain	Family
PF03474	DMA	249 → 285	DMRTA motif	Domain

Tissue specificity

TISSUE SPECIFICITY: Expressed in testis. {ECO:0000269|PubMed:10729223}.

Sequence

MNGYGSPYLYMGGPVSQPPRAPLQRTPKCARCRNHGVLSWLKGHKRYCRFKDCTCEKCIL
IIERQRVMAAQVALRRQQANESLESLIPDSLRALPGPPPPGDAVAAPQPPPASQPSQPQP
PRPAAELAAAAALRWTAEPQPGALQAQLAKPDLTEERLGDGKSADNTEVFSDKDTDQRSS
PDVAKSKGCFTPESPEIVSVEEGGYAVQKNGGNPESRPDSPKCHAEQNHLLIEGPSGTVS
LPFSLKANRPPLEVLKKIFPNQKPTVLELILKGCGGDLVSAVEVLLSSRSSVTGAERTSA
EPESLALPSNGHIFEHTLSSYPISSSKWSVGSAFRVPDTLRFSADSSNVVPSPLAGPLQP
PFPQPPRYPLMLRNTLARSQSSPFLPNDVTLWNTMTLQQQYQLRSQYVSPFPSNSTSVFR
SSPVLPARATEDPRISIPDDGCPFVSKQSIYTEDDYDERSDSSDSRTLNTSS

Sequence length

472

Interactions

View interactions

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)

Show/Hide Causal Diseases (1)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession	Evidence Score
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Premature ovarian failure	Likely pathogenic	rs764103256	RCV001270211	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Show/Hide Unknown Diseases (2)

Phenotype Name	Clinical Significance	Source	Evidence Score
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
OVARIAN FAILURE, PREMATURE	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
UTERINE FIBROID	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Show/Hide Text Mining Associations (33)

Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Associations from Text Mining Disease associations identified through text mining
46,XY partial gonadal dysgenesis	46, XY partial gonadal dysgenesis	ORPHANET_DG	17644778		★★★★★ ★☆☆☆☆ Found in Text Mining only
46,XY partial gonadal dysgenesis	46, XY partial gonadal dysgenesis	Orphanet			★★★★★ ★☆☆☆☆ Found in Text Mining only
Ambiguous Genitalia	Ambiguous Genitalia	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Azoospermia	Azoospermia	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinoma Squamous Cell	Squamous cell carcinoma	Pubtator	29866045	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Cerebral Palsy	Cerebral palsy	BEFREE	29305858		★★★★★ ★☆☆☆☆ Found in Text Mining only
Cryptorchidism	Cryptorchidism	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Disorder of Sex Development 46 XY	46, xy disorder of sex development	Pubtator	32553473	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Disorders of Sex Development	Disorders of sex development	Pubtator	32553473	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Germ cell tumor	Tumor	BEFREE	27771326		★★★★★ ★☆☆☆☆ Found in Text Mining only
Gonadal Dysgenesis	Gonadal Dysgenesis	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Gonadoblastoma	Gonadoblastoma	BEFREE	19306348, 20656323		★★★★★ ★☆☆☆☆ Found in Text Mining only
Gynecomastia	Gynecomastia	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Hypertrophy of clitoris	Hypertrophy Of Clitoris	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Hypoplasia of vagina	Hypoplasia Of Vagina	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Hypospadias	Hypospadias	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Isodicentric Chromosome 15 Syndrome	Isodicentric Chromosome 15 Syndrome	BEFREE	21482378		★★★★★ ★☆☆☆☆ Found in Text Mining only
Liver carcinoma	Liver carcinoma	BEFREE	24586606, 26386860		★★★★★ ★☆☆☆☆ Found in Text Mining only
Nasal Polyps	Nasal polyp	Pubtator	34439758	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Nephroblastoma	Nephroblastoma	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Nephrotic Syndrome	Nephrotic Syndrome	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
nervous system disorder	Nervous System Disorder	BEFREE	10050892		★★★★★ ★☆☆☆☆ Found in Text Mining only
Osteoporosis	Osteoporosis	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Ovarian gonadoblastoma	Ovarian gonadoblastoma	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Penis agenesis	Penis Agenesis	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Primary hypogonadism	Hypogonadism	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Primary physiologic amenorrhea	Physiologic Amenorrhea	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Respiratory Tract Diseases	Respiratory system infectious disease	Pubtator	34439758	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Spastic cerebral palsy	Spastic Cerebral Palsy	BEFREE	29305858		★★★★★ ★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma of lung	Lung carcinoma	BEFREE	20596660, 29866045		★★★★★ ★☆☆☆☆ Found in Text Mining only
Streak ovary	Streak ovary	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Testicular gonadoblastoma	Testicular gonadoblastoma	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Testicular regression syndrome	Testicular regression syndrome	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only

DMRT3 (doublesex and mab-3 related transcription factor 3)