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

    Gene ID: 63950, updated on 3-Apr-2024

    Summary

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    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 nervous system development and skeletal muscle cell differentiation. Predicted to be part of chromatin. Predicted to be active in nucleus. [provided by Alliance of Genome Resources, Apr 2022]
    Expression
    Low expression observed in reference dataset See more
    Orthologs
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    Genomic context

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    Location:
    1p32.3
    Exon count:
    3
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 1 NC_000001.11 (50417550..50423443, complement)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 1 NC_060925.1 (50297157..50303048, complement)
    105.20220307 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

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Bibliography

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    Related articles in PubMed

    1. DMRTA2 (DMRT5) is mutated in a novel cortical brain malformation. Urquhart JE, et al. Clin Genet, 2016 Jun. PMID 26757254
    2. 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
    3. 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
    4. 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
    5. A census of human transcription factors: function, expression and evolution. Vaquerizas JM, et al. Nat Rev Genet, 2009 Apr. PMID 19274049

    See all (8) 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

    Phenotypes

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

    Review eQTL and phenotype association data in this region using PheGenI

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Genotypes

    General gene information

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    Markers

    Homology

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    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 double-stranded DNA binding IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in cerebral cortex regionalization IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in dopaminergic neuron differentiation IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in germ cell development IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in neuroblast proliferation IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in neuron fate specification IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in positive regulation of neuroblast proliferation 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
    		  
    involved_in skeletal muscle cell differentiation IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in stem cell fate specification IEA
    Inferred from Electronic Annotation
    more info
    		  
    Component Evidence Code Pubs
    part_of chromatin ISA
    Inferred from Sequence Alignment
    more info
    		  
    is_active_in nucleus IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  

    General protein information

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    Preferred Names
    doublesex- and mab-3-related transcription factor A2
    Names
    doublesex- and mab-3-related transcription factor 5

    NCBI Reference Sequences (RefSeq)

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    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_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_2023_10

    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

      See identical proteins and their annotated locations for XP_011540239.1

      UniProtKB/Swiss-Prot
      Q5TFQ3, Q96SC8
      UniProtKB/TrEMBL
      B7ZLH1
      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

      UniProtKB/Swiss-Prot
      Q5TFQ3, Q96SC8
    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.

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