DMRTA2
Doublesex- and mab-3-related transcription factor A2
Also known as: DMTA2_HUMAN
Cross-references: UniProt · Ensembl · Human Protein Atlas · GeneCards · NCBI Gene
Protein identityUniProt · HPA
- UniProt accession
- Q96SC8
- Gene
- DMRTA2
- Ensembl
- ENSG00000142700
- Chromosome
- 1
- Canonical length
- 542 aa
- Protein class
- Predicted intracellular proteins, Transcription factors
- Subcellular location
- Nucleoplasm,Mitochondria
OverviewNCBI Gene
Enables sequence-specific double-stranded DNA binding activity. Predicted to be involved in regulation of transcription by RNA polymerase II and sex differentiation. Predicted to act upstream of or within several processes, including nervous system development; positive regulation of neuroblast proliferation; and stem cell fate specification. Predicted to be located in chromatin. Predicted to be active in nucleus. [provided by Alliance of Genome Resources, Jul 2025]
Canonical amino-acid sequenceUniProt
542 residues, UniProt reviewed canonical sequence.
>Q96SC8|DMRTA2
1 MELRSELPSV PGAATAAAAT ATGPPVASVA SVAAAAAAAA SLPVSVAGGL LRGPPLLLRA
61 AEKYPRTPKC ARCRNHGVVS ALKGHKRYCR WKDCLCAKCT LIAERQRVMA AQVALRRQQA
121 QEENEARELQ LLYGTAEGLA LAAANGIIPP RPAYEVFGSV CAADGGGPGA GAPAGTGGGA
181 AGAGGSEAKL QKFDLFPKTL LQAGRPGSPL PPPVKPLSPD GADSGPGTSS PEVRPGSGSE
241 NGDGESFSGS PLARASKEAG GSCPGSAGPG GGGEEDSPGS ASPLGSESGS EADKEEGEAA
301 PAPGLGGGSG PRQRTPLDIL TRVFPGHRRG VLELVLQGCG GDVVQAIEQV LNHHRGGLAA
361 GLGPAAPPDK AAVGAAAAAD DAWPSRVDAA AAAAAAAGGP GLPAPLQAGP AAPPHHRPLL
421 AGAMAPGALG SLSSRSAFSP LQPNASHFGA DAGAYPLGAP LGLSPLRLAY SAAAAHSRGL
481 AFMAPYSTAG LVPTLGFRPP MDYAFSDLMR DRSAAAAAAV HKEPTYGGGL YGPMVNGAPE
541 KQLocalizationUniProt · AlphaFold · HPA
Whether an antibody against DMRTA2 can act on the native protein depends on physical access: surface and secreted proteins are reachable by circulating antibodies, intracellular proteins usually are not.
- Antibody reachability
- Intracellular
- Secreted
- No
- Transmembrane segments
- 0
- Mean surface accessibility (rSASA)
- 0.68
- Highest tissue expression
- 1.9 nTPM
Expression across tissuesHPA
Tissue
- pituitary gland: 1.9 nTPM
- testis: 1.7 nTPM
- esophagus: 1.4 nTPM
- spinal cord: 0.7 nTPM
- choroid plexus: 0.6 nTPM
- hippocampal formation: 0.4 nTPM
Single-cell type
- ocular epithelial cells: 47 nCPM
- late primary spermatocytes: 16 nCPM
- respiratory basal cells: 14 nCPM
- pituitary stem cells: 13 nCPM
- respiratory deuterosomal cells: 12 nCPM
- conjunctival goblet cells: 12 nCPM
Immune cell
- basophil: 0 nTPM
- classical monocyte: 0 nTPM
- eosinophil: 0 nTPM
- gdT-cell: 0 nTPM
- intermediate monocyte: 0 nTPM
- MAIT T-cell: 0 nTPM
Brain region
- white matter: 5.4 nTPM
- thalamus: 1.8 nTPM
- medulla oblongata: 1.3 nTPM
- midbrain: 1.2 nTPM
- cerebral cortex: 1 nTPM
- choroid plexus: 1 nTPM
Genetic constraint and essentialitygnomAD · DepMap
Does the body need this protein intact? Low LOEUF or a strong DepMap dependency means loss or blockade of the protein is likely to be felt.
- gnomAD LOEUF (loss-of-function intolerance)
- 0.38
- gnomAD pLI
- 0.92
- gnomAD missense Z
- 1.4
- DepMap mean gene effect
- -0.16
- DepMap dependency class
- selective
Cancer expressionTCGA
Across TCGA tumor cohorts, this protein is over-expressed in roughly 4% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).
OntologyGO
Biological processes
- cerebral cortex regionalization
- dopaminergic neuron differentiation
- neuroblast proliferation
- neuron fate specification
- positive regulation of neuroblast proliferation
- regulation of transcription by RNA polymerase II
- sex differentiation
- skeletal muscle cell differentiation
- stem cell fate specification
Molecular functions
- DNA-binding transcription factor activity, RNA polymerase II-specific
- identical protein binding
- metal ion binding
- RNA polymerase II cis-regulatory region sequence-specific DNA binding
- sequence-specific double-stranded DNA binding
Cellular components
Protein domainsUniProt · Pfam · InterPro
KeywordsUniProt
Antibody and autoantibody relevanceSeroatlas analysis
Seroatlas reads DMRTA2 as an antibody target. Whether an autoantibody or antibody against DMRTA2 could matter depends on whether native DMRTA2 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.
DMRTA2 is annotated as predominantly intracellular. Intracellular proteins are common autoantibody markers, becoming visible to the immune system after cell injury or altered processing, but are usually markers of disease rather than direct drivers.
Annotation status
The present source text does not explicitly label DMRTA2 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.
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