U.S. flag

An official website of the United States government

Format

Send to:

Choose Destination

DMRTA2 DMRT like family A2 [ Homo sapiens (human) ]

Gene ID: 63950, updated on 3-May-2025
Official Symbol
DMRTA2provided by HGNC
Official Full Name
DMRT like family A2provided by HGNC
Primary source
HGNC:HGNC:13908
See related
Ensembl:ENSG00000142700 MIM:614804; AllianceGenome:HGNC:13908
Gene type
protein coding
RefSeq status
VALIDATED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Summary
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, May 2025]
Expression
Low expression observed in reference dataset See more
Orthologs
mouse all
NEW
Try the new Gene table
Try the new Transcript table
See DMRTA2 in Genome Data Viewer
Location:
1p32.3
Exon count:
3
Annotation release Status Assembly Chr Location
RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 1 NC_000001.11 (50417550..50423443, complement)
RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 1 NC_060925.1 (50297157..50303048, complement)
RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 1 NC_000001.10 (50883222..50889115, complement)

Chromosome 1 - NC_000001.11Genomic Context describing neighboring genes Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:50883775-50884725 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:50884726-50885675 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:50886911-50887410 Neighboring gene uncharacterized LOC105378714 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 863 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:50892122-50893115 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:50893116-50894108 Neighboring gene high mobility group box 1 pseudogene 45 Neighboring gene FCF1 pseudogene 6 Neighboring gene NANOG hESC enhancer GRCh37_chr1:50918802-50919303 Neighboring gene FAF1 antisense RNA 1 Neighboring gene Fas associated factor 1

Go to nucleotide: Graphics FASTA GenBank

  • Project title: Tissue-specific circular RNA induction during human fetal development
  • Description: 35 human fetal samples from 6 tissues (3 - 7 replicates per tissue) collected between 10 and 20 weeks gestational time were sequenced using Illumina TruSeq Stranded Total RNA
  • BioProject: PRJNA270632
  • Publication: PMID 26076956
  • Analysis date: Mon Apr 2 22:54:59 2018

Related articles in PubMed

  1. DMRTA2 supports glioma stem-cell mediated neovascularization in glioblastoma. Maleszewska M, et al. Cell Death Dis, 2024 Mar 20. PMID 38509074, Free PMC Article
  2. DMRTA2 (DMRT5) is mutated in a novel cortical brain malformation. Urquhart JE, et al. Clin Genet, 2016 Jun. PMID 26757254
  3. Involvement of doublesex and mab-3-related transcription factors in human female germ cell development demonstrated by xenograft and interference RNA strategies. Poulain M, et al. Mol Hum Reprod, 2014 Oct. PMID 25082981
  4. Novel paralogy relations among human chromosomes support a link between the phylogeny of doublesex-related genes and the evolution of sex determination. Ottolenghi C, et al. Genomics, 2002 Mar. PMID 11863363
  5. Impact of cytosine methylation on DNA binding specificities of human transcription factors. Yin Y, et al. Science, 2017 May 5. PMID 28473536, Free PMC Article

See all (9) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. DMRTA2 supports glioma stem-cell mediated neovascularization in glioblastoma.
    Title: DMRTA2 supports glioma stem-cell mediated neovascularization in glioblastoma.
  2. Data suggest that loss of function of doublesex and mab-3-related transcription factor a2 (DMRTA2) leads to disorder of cortical development.
    Title: DMRTA2 (DMRT5) is mutated in a novel cortical brain malformation.
  3. This study reveals, for the first time, the requirement of DMRTA2 for normal human female embryonic germ cell development.
    Title: Involvement of doublesex and mab-3-related transcription factors in human female germ cell development demonstrated by xenograft and interference RNA strategies.
Submit: New GeneRIF Correction

Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables DNA binding IEA
Inferred from Electronic Annotation
more info
  
enables DNA-binding transcription factor activity, RNA polymerase II-specific IBA
Inferred from Biological aspect of Ancestor
more info
  
enables DNA-binding transcription factor activity, RNA polymerase II-specific ISA
Inferred from Sequence Alignment
more info
  
enables RNA polymerase II cis-regulatory region sequence-specific DNA binding IBA
Inferred from Biological aspect of Ancestor
more info
  
enables identical protein binding IEA
Inferred from Electronic Annotation
more info
  
enables metal ion binding IEA
Inferred from Electronic Annotation
more info
  
enables sequence-specific DNA binding IEA
Inferred from Electronic Annotation
more info
  
enables sequence-specific double-stranded DNA binding IDA
Inferred from Direct Assay
more info
 PubMed 
Process Evidence Code Pubs
acts_upstream_of_or_within cerebral cortex regionalization IEA
Inferred from Electronic Annotation
more info
  
acts_upstream_of_or_within dopaminergic neuron differentiation IEA
Inferred from Electronic Annotation
more info
  
acts_upstream_of neuroblast proliferation IEA
Inferred from Electronic Annotation
more info
  
acts_upstream_of_or_within neuron fate specification IEA
Inferred from Electronic Annotation
more info
  
acts_upstream_of_or_within positive regulation of neuroblast proliferation IEA
Inferred from Electronic Annotation
more info
  
involved_in regulation of DNA-templated transcription IEA
Inferred from Electronic Annotation
more info
  
involved_in regulation of transcription by RNA polymerase II IBA
Inferred from Biological aspect of Ancestor
more info
  
involved_in sex differentiation IBA
Inferred from Biological aspect of Ancestor
more info
  
acts_upstream_of_or_within skeletal muscle cell differentiation IEA
Inferred from Electronic Annotation
more info
  
acts_upstream_of_or_within stem cell differentiation IEA
Inferred from Electronic Annotation
more info
  
acts_upstream_of_or_within stem cell fate specification IEA
Inferred from Electronic Annotation
more info
  
Component Evidence Code Pubs
located_in chromatin ISA
Inferred from Sequence Alignment
more info
  
is_active_in nucleus IBA
Inferred from Biological aspect of Ancestor
more info
  
located_in nucleus IEA
Inferred from Electronic Annotation
more info
  
Preferred Names
doublesex- and mab-3-related transcription factor A2
Names
doublesex- and mab-3-related transcription factor 5

NEW Try the new Transcript table

RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

mRNA and Protein(s)

  1. NM_001437821.1 → NP_001424750.1  doublesex- and mab-3-related transcription factor A2

    Status: VALIDATED

    Source sequence(s)
    AL049637
    UniProtKB/Swiss-Prot
    Q5TFQ3, Q96SC8
    UniProtKB/TrEMBL
    B7ZLH1

  2. NM_032110.3 → NP_115486.1  doublesex- and mab-3-related transcription factor A2

    See identical proteins and their annotated locations for NP_115486.1

    Status: VALIDATED

    Source sequence(s)
    AJ301580, AL049637, BM675521, BQ941189, CF242912
    Consensus CDS
    CCDS44141.1
    UniProtKB/Swiss-Prot
    Q5TFQ3, Q96SC8
    UniProtKB/TrEMBL
    B7ZLH1
    Related
    ENSP00000383909.3, ENST00000404795.4
    Conserved Domains (2) summary
    cd14418
    Location:312 → 353
    CUE_DMA_DMRTA2; CUE-like DMA domain found in doublesex- and mab-3-related transcription factor A2 (DMRTA2)
    pfam00751
    Location:66 → 112
    DM; DM DNA binding domain

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000001.11 Reference GRCh38.p14 Primary Assembly

    Range
    50417550..50423443 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_011541937.3 → XP_011540239.1  doublesex- and mab-3-related transcription factor A2 isoform X1

    Related
    ENSP00000399370.1, ENST00000418121.5
    Conserved Domains (2) summary
    cd14418
    Location:312 → 353
    CUE_DMA_DMRTA2; CUE-like DMA domain found in doublesex- and mab-3-related transcription factor A2 (DMRTA2)
    pfam00751
    Location:66 → 112
    DM; DM DNA binding domain

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060925.1 Alternate T2T-CHM13v2.0

    Range
    50297157..50303048 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_054338146.1 → XP_054194121.1  doublesex- and mab-3-related transcription factor A2 isoform X1

Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q96SC8.2 GenPept UniProtKB/Swiss-Prot:Q96SC8

Gene LinkOut

The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

Chemical Information
Molecular Biology Databases
Research Materials
Tools