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

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

    Summary

    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 germ cell development; 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, Nov 2024]
    Expression
    Low expression observed in reference dataset See more
    Orthologs
    NEW
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    Try the new Transcript table

    Genomic context

    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

    Genomic regions, transcripts, and products

    Expression

    • Project title: HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Apr 4 07:08:55 2018

    Bibliography

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    General gene information

    Markers

    Gene Ontology Provided by GOA

    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 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
    located_in chromatin ISA
    Inferred from Sequence Alignment
    more info
     
    is_active_in nucleus IBA
    Inferred from Biological aspect of Ancestor
    more info
     

    General protein information

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

    NCBI Reference Sequences (RefSeq)

    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_032110.3NP_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:312353
      CUE_DMA_DMRTA2; CUE-like DMA domain found in doublesex- and mab-3-related transcription factor A2 (DMRTA2)
      pfam00751
      Location:66112
      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_011541937.3XP_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:312353
      CUE_DMA_DMRTA2; CUE-like DMA domain found in doublesex- and mab-3-related transcription factor A2 (DMRTA2)
      pfam00751
      Location:66112
      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_054338146.1XP_054194121.1  doublesex- and mab-3-related transcription factor A2 isoform X1

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