DMRT3
Doublesex- and mab-3-related transcription factor 3
Also known as: DMRT3_HUMAN, DMRTA3
Cross-references: UniProt · Ensembl · Human Protein Atlas · GeneCards · NCBI Gene
Protein identityUniProt · HPA
- UniProt accession
- Q9NQL9
- Gene
- DMRT3
- Ensembl
- ENSG00000064218
- Chromosome
- 9
- Canonical length
- 472 aa
- Protein class
- Predicted intracellular proteins, Transcription factors
- Quaternary structure
- Homodimer
OverviewNCBI Gene
Enables sequence-specific double-stranded DNA binding activity. Predicted to be involved in male sex differentiation and regulation of transcription by RNA polymerase II. Predicted to act upstream of or within several processes, including adult walking behavior; regulation of odontogenesis of dentin-containing tooth; and ventral spinal cord interneuron 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
472 residues, UniProt reviewed canonical sequence.
>Q9NQL9|DMRT3
1 MNGYGSPYLY MGGPVSQPPR APLQRTPKCA RCRNHGVLSW LKGHKRYCRF KDCTCEKCIL
61 IIERQRVMAA QVALRRQQAN ESLESLIPDS LRALPGPPPP GDAVAAPQPP PASQPSQPQP
121 PRPAAELAAA AALRWTAEPQ PGALQAQLAK PDLTEERLGD GKSADNTEVF SDKDTDQRSS
181 PDVAKSKGCF TPESPEIVSV EEGGYAVQKN GGNPESRPDS PKCHAEQNHL LIEGPSGTVS
241 LPFSLKANRP PLEVLKKIFP NQKPTVLELI LKGCGGDLVS AVEVLLSSRS SVTGAERTSA
301 EPESLALPSN GHIFEHTLSS YPISSSKWSV GSAFRVPDTL RFSADSSNVV PSPLAGPLQP
361 PFPQPPRYPL MLRNTLARSQ SSPFLPNDVT LWNTMTLQQQ YQLRSQYVSP FPSNSTSVFR
421 SSPVLPARAT EDPRISIPDD GCPFVSKQSI YTEDDYDERS DSSDSRTLNT SSLocalizationUniProt · AlphaFold · HPA
Whether an antibody against DMRT3 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)
- 0.65
- Highest tissue expression
- 25 nTPM
Expression across tissuesHPA
Tissue
- parathyroid gland: 25 nTPM
- choroid plexus: 9.3 nTPM
- testis: 9.1 nTPM
- thyroid gland: 5 nTPM
- adipose tissue: 2.9 nTPM
- lymph node: 1.8 nTPM
Single-cell type
- early primary spermatocytes: 31 nCPM
- choroid plexus epithelial cells: 20 nCPM
- respiratory secretory cells: 14 nCPM
- respiratory basal cells: 12 nCPM
- respiratory deuterosomal cells: 10 nCPM
- ependymal cells: 9.2 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
- choroid plexus: 22 nTPM
- hippocampal formation: 2.9 nTPM
- white matter: 2.9 nTPM
- cerebral cortex: 2.2 nTPM
- amygdala: 1.5 nTPM
- medulla oblongata: 0.5 nTPM
DiseaseUniProt · ClinVar · IEDB · PubMed
Four sources answering four different questions about DMRT3.
Disease | GeneticClinVar
1 pathogenic / likely-pathogenic of 126 ClinVar records.
Conditions with pathogenic or likely-pathogenic variants.
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)
- 1.17
- gnomAD pLI
- 0
- gnomAD missense Z
- -1.69
- DepMap mean gene effect
- 0.19
- DepMap dependency class
- none
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
- adult locomotory behavior
- adult walking behavior
- male sex differentiation
- regulation of odontogenesis of dentin-containing tooth
- regulation of transcription by RNA polymerase II
- sex differentiation
- transmission of nerve impulse
- ventral spinal cord interneuron specification
Molecular functions
- DNA-binding transcription factor activity, RNA polymerase II-specific
- 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 DMRT3 as an antibody target. Whether an autoantibody or antibody against DMRT3 could matter depends on whether native DMRT3 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.
DMRT3 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 DMRT3 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.
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