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DMRTA2 Gene

protein-coding   GIFtS: 43
GCID: GC01M050883

DMRT-Like Family A2

  See related diseases
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
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Aliases
DMRT-Like Family A21 2
Doublesex- And Mab-3-Related Transcription Factor 52 3
Doublesex- And Mab-3-Related Transcription Factor A22
DMRT53

External Ids:    HGNC: 139081   Entrez Gene: 639502   Ensembl: ENSG000001427007   OMIM: 6148045   UniProtKB: Q96SC83   

Export aliases for DMRTA2 gene to outside databases

Previous GC identifers: GC01M050508 GC01M049773 GC01M050242 GC01M050254 GC01M050243 GC01M050596 GC01M050656 GC01M049001


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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GeneCards Summary for DMRTA2 Gene:
DMRTA2 (DMRT-like family A2) is a protein-coding gene. Diseases associated with DMRTA2 include cerebritis, and endotheliitis. GO annotations related to this gene include sequence-specific DNA binding and sequence-specific DNA binding transcription factor activity. An important paralog of this gene is DMRT2.

UniProtKB/Swiss-Prot: DMTA2_HUMAN, Q96SC8
Function: May be involved in sexual development




(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence:
NC_000001.11  NC_018912.2  NT_032977.10  
Regulatory elements:
   Regulatory transcription factor binding sites in the DMRTA2 gene promoter:
         Max1   USF1   Pax-5   SREBP-1c   N-Myc   SREBP-1a   Ik-2   CP2   USF-1   c-Myb   
         Other transcription factors

Browse SwitchGear Promoter luciferase reporter plasmids
   Search Chromatin IP Primers for DMRTA2

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat DMRTA2


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 1p32.3   Ensembl cytogenetic band:  1p32.3   HGNC cytogenetic band: 1p33

DMRTA2 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
DMRTA2 gene location

GeneLoc information about chromosome 1         GeneLoc Exon Structure

GeneLoc location for GC01M050883:  view genomic region     (about GC identifiers)

Start:
50,883,222 bp from pter      End:
50,889,172 bp from pter
Size:
5,951 bases      Orientation:
minus strand

(According to 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
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UniProtKB/Swiss-Prot: DMTA2_HUMAN, Q96SC8 (See protein sequence)
Recommended Name: Doublesex- and mab-3-related transcription factor A2  
Size: 542 amino acids; 53356 Da
Secondary accessions: Q5TFQ3

Explore the universe of human proteins at neXtProt for DMRTA2: NX_Q96SC8

Explore proteomics data for DMRTA2 at MOPED

Post-translational modifications: 

  • Modification sites at neXtProt
  • Modification sites at PhosphoSitePlus

  • See DMRTA2 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins: NP_115486.1  
    ENSEMBL proteins: 
     ENSP00000399370   ENSP00000383909  

    DMRTA2 Human Recombinant Protein Products:

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    Cloud-Clone Corp. ELISAs for DMRTA2
    Cloud-Clone Corp. CLIAs for DMRTA2


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    4 InterPro protein domains:
     IPR009060 UBA-like
     IPR005173 DMA
     IPR026607 DMRT/dsx/mab-3
     IPR001275 DM_DNA-bd

    Graphical View of Domain Structure for InterPro Entry Q96SC8

    ProtoNet protein and cluster: Q96SC8

    1 Blocks protein domain: IPB001275 DM DNA-binding

    UniProtKB/Swiss-Prot: DMTA2_HUMAN, Q96SC8
    Similarity: Belongs to the DMRT family
    Similarity: Contains 1 DM DNA-binding domain


    DMRTA2 for domains           About GeneDecksing


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
    transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Molecular Function:

         UniProtKB/Swiss-Prot Summary: DMTA2_HUMAN, Q96SC8
    Function: May be involved in sexual development

         Gene Ontology (GO): Selected molecular function terms (see all 6):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0003700sequence-specific DNA binding transcription factor activity IEA--
    GO:0005515protein binding ----
    GO:0042803protein homodimerization activity IEA--
    GO:0043565sequence-specific DNA binding IEA--
    GO:0046872metal ion binding IEA--
         
    DMRTA2 for ontologies           About GeneDecksing


    Phenotypes:
         2 MGI mutant phenotypes (inferred from 2 alleles(MGI details for Dmrta2):
     cellular  nervous system 

    DMRTA2 for phenotypes           About GeneDecksing

    Animal Models:
       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for DMRTA2
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    miRNA
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    Block miRNA regulation of human, mouse, rat DMRTA2 using miScript Target Protectors
    Selected qRT-PCR Assays for microRNAs that regulate DMRTA2 (see all 41):
    hsa-miR-106a hsa-miR-519a hsa-miR-3161 hsa-miR-374c hsa-miR-1273d hsa-miR-149 hsa-miR-93 hsa-miR-520g
    Browse SwitchGear 3'UTR luciferase reporter plasmids
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    Predesigned siRNA for gene silencing in human, mouse, rat DMRTA2

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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for DMRTA2


    (According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Subcellular locations from UniProtKB/Swiss-Prot
    DMTA2_HUMAN, Q96SC8: Nucleus (Potential)
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    nucleus3
    cytoskeleton1
    cytosol1
    endoplasmic reticulum1
    extracellular1
    mitochondrion1
    peroxisome1
    plasma membrane1

    Gene Ontology (GO): 1 cellular component term:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005634nucleus IEA--

    DMRTA2 for ontologies           About GeneDecksing


    (SuperPaths according to PathCards, Pathways according to R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to QIAGEN, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene).
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        Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for DMRTA2
    Interactions:

        Search GeneGlobe Interaction Network for DMRTA2

    STRING Interaction Network Preview (showing 5 interactants - click image to see 16)

    Selected Interacting proteins for DMRTA2 (ENSP000003839094) via UniProtKB, MINT, STRING, and/or I2D (see all 16)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    ELAVL4ENSP000003495944STRING: ENSP00000349594
    C1orf53ENSP000003563634STRING: ENSP00000356363
    CELA3BENSP000003383694STRING: ENSP00000338369
    ENSG00000206408ENSP000003829994STRING: ENSP00000382999
    ENSG00000206457ENSP000003832634STRING: ENSP00000383263
    About this table

    Gene Ontology (GO): 4 biological process terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006355regulation of transcription, DNA-templated ----
    GO:0035914skeletal muscle cell differentiation IEA--
    GO:0048665neuron fate specification IEA--
    GO:0071542dopaminergic neuron differentiation IEA--

    DMRTA2 for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
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    Browse Small Molecules at EMD Millipore
       Browse drugs & compounds from Enzo Life Sciences
      Browse compounds at ApexBio 

    Browse Tocris compounds for DMRTA2 (DMTA2)



    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    Conferences by KenesGroup, exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
    Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, and/or QIAGEN )
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    REFSEQ mRNAs for DMRTA2 gene: 
    NM_032110.2  

    Unigene Cluster for DMRTA2:

    DMRT-like family A2
    Hs.334481  [show with all ESTs]
    Unigene Representative Sequence: NM_032110
    2 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000418121(uc010ona.2) ENST00000404795(uc010onb.2)
    miRNA
    Products:
         
    Block miRNA regulation of human, mouse, rat DMRTA2 using miScript Target Protectors
    Selected qRT-PCR Assays for microRNAs that regulate DMRTA2 (see all 41):
    hsa-miR-106a hsa-miR-519a hsa-miR-3161 hsa-miR-374c hsa-miR-1273d hsa-miR-149 hsa-miR-93 hsa-miR-520g
    Browse SwitchGear 3'UTR luciferase reporter plasmids
    Inhib. RNA
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    Predesigned siRNA for gene silencing in human, mouse, rat DMRTA2
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    Primer
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      QuantiTect SYBR Green Assays in human, mouse, rat DMRTA2
      QuantiFast Probe-based Assays in human, mouse, rat DMRTA2

    Additional mRNA sequence: 

    AJ301580.1 BC136282.1 BC143800.1 

    2 DOTS entries:

    DT.95193645  DT.97804738 

    11 AceView cDNA sequences:

    BQ941189 BG056274 BE540441 AJ301580 BM560708 AI492131 BU727085 BM931712 
    BM726531 BE294804 BM688501 

    GeneLoc Exon Structure


    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
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    DMRTA2 expression in normal human tissues (normalized intensities)      DMRTA2 embryonic expression: see
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: GGTTTCCTTG
    DMRTA2 Expression
    About this image


    DMRTA2 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 6) fully expand
     
     Brain (Nervous System)    fully expand to see all 10 entries
             Endothelial Cells Blood Brain Barrier
             Cerebral Cortex
             Midbrain dopaminergic-like neurons
     
     Neural Tube (Nervous System)    fully expand to see all 6 entries
             Meso-diencephalic Dopaminergic Precursor Cells Mesencephalic Ventricular Zone
             Metencephalon
     
     Gut Tube (Gastrointestinal Tract)
             Foregut
     
     Neurons
             Midbrain dopaminergic-like neurons
     
     Endothelium (Cardiovascular System)
             Endothelial Cells Blood Brain Barrier
    DMRTA2 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    DMRTA2 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.334481

    UniProtKB/Swiss-Prot: DMTA2_HUMAN, Q96SC8
    Tissue specificity: Expressed in testis

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    In Situ
    Assay Products:
     

     
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    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
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    This gene was present in the common ancestor of animals.

    Orthologs for DMRTA2 gene from Selected species (see all 12)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Dmrta21 , 5 doublesex and mab-3 related transcription factor like more1, 5 86.88(n)1
    93.41(a)1
      4 (51.37 cM)5
    2426201  NM_172296.21  NP_758500.21 
     1099780535 
    lizard
    (Anolis carolinensis)
    Reptilia DMRTA26
    DMRT-like family A2
    65(a)
    1 ↔ 1
    4(113497050-113503259)
    tropical clawed frog
    (Xenopus tropicalis)
    Amphibia Str.142152 Transcribed sequence with weak similarity to protein more 73.87(n)    137725954 
    zebrafish
    (Danio rerio)
    Actinopterygii dmrta21 doublesex and mab-3 related transcription factor like more 67.57(n)
    69.36(a)
      474350  NM_001007064.2  NP_001007065.2 
    fruit fly
    (Drosophila melanogaster)
    Insecta dmrt99B6
    doublesex-Mab related 99B
    30(a)
    1 → many
    3R(25518313-25522747)
    worm
    (Caenorhabditis elegans)
    Secernentea dmd-56
    Protein DMD-5 (dmd-5) mRNA, complete cds
    35(a)
    1 → many
    II(5772065-5774220) WBGene00017326


    ENSEMBL Gene Tree for DMRTA2 (if available)
    TreeFam Gene Tree for DMRTA2 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for DMRTA2 gene
    DMRT22  DMRT32  DMRT12  DMRTA12  DMRTB12  
    2 SIMAP similar genes for DMRTA2 using alignment to 3 protein entries:     DMTA2_HUMAN (see all proteins):
    DMRT2    DMRTA1

    DMRTA2 for paralogs           About GeneDecksing



    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
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    Selected SNPs for DMRTA2 (see all 137)    About this table    
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 1 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1478224651,2
    --50882776(+) CCCTGC/TCCAGC 1 -- ds50010--------
    rs1903649811,2
    C--50882793(+) CTTCGC/TTGCCT 1 -- ds50010--------
    rs1810440711,2
    --50883005(+) GTCGCC/GGGTCC 1 -- ds50010--------
    rs1413662421,2
    --50883436(+) CTTAGA/GGACAG 1 -- ut310--------
    rs2012875231,2
    --50883798(+) AAACT-/TGTTTCC 1 -- ut310--------
    rs2016998771,2
    C--50883805(+) TTTCC-/TTTTTTT 1 -- ut311Minor allele frequency- TT:0.00CSA 2
    rs1512795311,2
    C--50884055(+) GCCTTC/TTGGAA 1 -- ut310--------
    rs29825861,2
    C--50884092(-) ACCTCC/TGGATC 1 -- ut31 ese30--------
    rs101591751,2
    C,F--50884126(+) CACCCC/ACTCCG 1 -- ut31 ese31Minor allele frequency- A:0.09WA 118
    rs1436940441,2
    C--50884159(+) CTGCT-/CCCCCC 1 -- ut310--------

    HapMap Linkage Disequilibrium report for DMRTA2 (50883222 - 50889172 bp)

    Structural Variations
          Database of Genomic Variants (DGV) variations for DMRTA2: --
    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing DMRTA2
    DNA2.0 Custom Variant and Variant Library Synthesis for DMRTA2

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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    OMIM gene information: 614804    OMIM disorders: --

    3 diseases for DMRTA2:    About MalaCards
    cerebritis    endotheliitis    neuronitis


    DMRTA2 for disorders           About GeneDecksing


    Export disorders for DMRTA2 gene to outside databases

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
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    PubMed articles for DMRTA2 gene integrated from 10 sources:
    (articles sorted by number of sources associating them with DMRTA2)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Novel paralogy relations among human chromosomes support a link between the phylogeny of doublesex-related genes and the evolution of sex determination. (PubMed id 11863363)1, 2, 3 Ottolenghi C.... McElreavey K. (Genomics 2002)
    2. The DNA sequence and biological annotation of human chromosome 1. (PubMed id 16710414)2 Gregory S.G.... Bentley D.R. (Nature 2006)
    3. Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. (PubMed id 12477932)1 Strausberg R.L....Marra M.A. (Proc. Natl. Acad. Sci. U.S.A. 2002)
    4. Normalization and subtraction: two approaches to facilitate gene discovery. (PubMed id 8889548)1 Bonaldo M.F.... Soares M.B. (Genome Res. 1996)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     ANDOR
    Aliases
    Free Text  

      Query String
    PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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    Entrez Gene: 63950 HGNC: 13908 AceView: DMRTA2 Ensembl:ENSG00000142700 euGenes: HUgn63950
    ECgene: DMRTA2 H-InvDB: DMRTA2

    (According to HUGE)
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      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
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    NameDescription
    PharmGKB entry for DMRTA2 Pharmacogenomics, SNPs, Pathways

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
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    Patent Information for DMRTA2 gene:
    Search GeneIP for patents involving DMRTA2

    GeneCards and IP:
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    (Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Cloud-Clone Corp., Thermo Fisher Scientific, LSBio, Gene Editing from DNA2.0. Clones from OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Cell lines from GenScript, and ESI BIO, PCR Arrays from QIAGEN, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, Enzo Life Sciences, and/or ApexBio, In Situ Hybridization Assays from
    Advanced Cell Diagnostics, Animal models from inGenious Targeting Laboratory, genOway)
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