DMRTA2 (DMRT like family A2)

Gene

• Entrez ID: 63950
• Gene name: DMRT like family A2
• Gene symbol: DMRTA2
• Synonyms (NCBI Gene): -
• Chromosome: 1
• Chromosome location: 1p32.3

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT939228	hsa-miR-3657	CLIP-seq
MIRT939229	hsa-miR-4432	CLIP-seq
MIRT939230	hsa-miR-4669	CLIP-seq
MIRT939231	hsa-miR-548u	CLIP-seq
MIRT1547978	hsa-miR-2467-5p	CLIP-seq
MIRT1547979	hsa-miR-3188	CLIP-seq
MIRT1547980	hsa-miR-3652	CLIP-seq
MIRT1547981	hsa-miR-3975	CLIP-seq
MIRT1547982	hsa-miR-4316	CLIP-seq
MIRT1547983	hsa-miR-4430	CLIP-seq
MIRT1547984	hsa-miR-4710	CLIP-seq
MIRT1547985	hsa-miR-485-5p	CLIP-seq
MIRT1547986	hsa-miR-7	CLIP-seq
MIRT1547978	hsa-miR-2467-5p	CLIP-seq
MIRT1547979	hsa-miR-3188	CLIP-seq
MIRT1547980	hsa-miR-3652	CLIP-seq
MIRT1547981	hsa-miR-3975	CLIP-seq
MIRT1547982	hsa-miR-4316	CLIP-seq
MIRT1547983	hsa-miR-4430	CLIP-seq
MIRT1547984	hsa-miR-4710	CLIP-seq
MIRT1547985	hsa-miR-485-5p	CLIP-seq
MIRT1547986	hsa-miR-7	CLIP-seq
MIRT2213199	hsa-miR-3924	CLIP-seq
MIRT2213200	hsa-miR-548ac	CLIP-seq
MIRT2213201	hsa-miR-548d-3p	CLIP-seq
MIRT2213202	hsa-miR-548z	CLIP-seq
MIRT2386942	hsa-miR-3137	CLIP-seq

Gene ontology (GO)

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:0002052	Process	Positive regulation of neuroblast proliferation	IEA
GO:0003677	Function	DNA binding	IEA
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:0007405	Process	Neuroblast proliferation	IEA
GO:0007548	Process	Sex differentiation	IBA
GO:0021796	Process	Cerebral cortex regionalization	IEA
GO:0035914	Process	Skeletal muscle cell differentiation	IEA
GO:0042802	Function	Identical protein binding	IEA
GO:0043565	Function	Sequence-specific DNA binding	IEA
GO:0046872	Function	Metal ion binding	IEA
GO:0048665	Process	Neuron fate specification	IEA
GO:0048863	Process	Stem cell differentiation	IEA
GO:0048866	Process	Stem cell fate specification	IEA
GO:0071542	Process	Dopaminergic neuron differentiation	IEA
GO:1990837	Function	Sequence-specific double-stranded DNA binding	IDA	28473536

Other IDs

• MIM: 614804
• HGNC: 13908
• e!Ensembl: ENSG00000142700

Protein

• UniProt ID: Q96SC8
• Protein name: Doublesex- and mab-3-related transcription factor A2 (Doublesex- and mab-3-related transcription factor 5)
• Protein function: May be involved in sexual development.
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF00751	DM	66 → 112	DM DNA binding domain	Family
  PF03474	DMA	314 → 350	DMRTA motif	Domain

• Tissue specificity: TISSUE SPECIFICITY: Expressed in testis. {ECO:0000269|PubMed:11863363}.
• Sequence:

  MELRSELPSVPGAATAAAATATGPPVASVASVAAAAAAAASLPVSVAGGLLRGPPLLLRA
  AEKYPRTPKCARCRNHGVVSALKGHKRYCRWKDCLCAKCTLIAERQRVMAAQVALRRQQA
  QEENEARELQLLYGTAEGLALAAANGIIPPRPAYEVFGSVCAADGGGPGAGAPAGTGGGA
  AGAGGSEAKLQKFDLFPKTLLQAGRPGSPLPPPVKPLSPDGADSGPGTSSPEVRPGSGSE
  NGDGESFSGSPLARASKEAGGSCPGSAGPGGGGEEDSPGSASPLGSESGSEADKEEGEAA
  PAPGLGGGSGPRQRTPLDILTRVFPGHRRGVLELVLQGCGGDVVQAIEQVLNHHRGGLAA
  GLGPAAPPDKAAVGAAAAADDAWPSRVDAAAAAAAAAGGPGLPAPLQAGPAAPPHHRPLL
  AGAMAPGALGSLSSRSAFSPLQPNASHFGADAGAYPLGAPLGLSPLRLAYSAAAAHSRGL
  AFMAPYSTAGLVPTLGFRPPMDYAFSDLMRDRSAAAAAAVHKEPTYGGGLYGPMVNGAPE
  KQ

• Sequence length: 542

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
Phenotype Name	Clinical Significance	Source	Evidence Score
EBV-positive nodal T- and NK-cell lymphoma	Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MALE INFERTILITY WITH AZOOSPERMIA OR OLIGOZOOSPERMIA DUE TO SINGLE GENE MUTATION	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Carcinoma Renal Cell	Renal cell carcinoma	Pubtator	33510822	Associate	★☆☆☆☆ Found in Text Mining only
Congenital anomaly of brain	Brain malformation	BEFREE	26757254		★☆☆☆☆ Found in Text Mining only
Urinary Bladder Neoplasms	Urinary bladder neoplasms	Pubtator	35524222	Associate	★☆☆☆☆ Found in Text Mining only