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Category   Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21
GIFtS

DMRTC2 Gene

protein-coding   GIFtS: 43
GCID: GC19P042349

DMRT-like family C2

 Explore 1 disease affiliated with
DMRTC2 via our new
 Human Malady Compendium 
Biological research products
for DMRTC2
    

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, and/or 10fRNAdb)
About This Section

Aliases
DMRT-Like Family C21 2
Doublesex- And Mab-3-Related Transcription Factor C22

External Ids:    HGNC: 139111   Entrez Gene: 639462   Ensembl: ENSG000001420257   OMIM: 6148065   UniProtKB: Q8IXT23   

Export aliases for DMRTC2 gene to outside databases

Previous GC identifers: GC19P042988 GC19P042740 GC19P047025 GC19P047041 GC19P047043 GC19P047044 GC19P038780


(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

UniProtKB/Swiss-Prot: DMRTD_HUMAN, Q8IXT2
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 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000019.9  NC_018930.1  NT_011109.16  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the DMRTC2 gene promoter:
         Egr-3   Max1   GR   GR-beta   NRSF form 2   PPAR-alpha   HEN1   GR-alpha   c-Myc   
         Other transcription factors

Browse SwitchGear Promoter luciferase reporter plasmids
   Search SABiosciences Chromatin IP Primers for DMRTC2

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat DMRTC2


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

Entrez Gene cytogenetic band: 19q13.2   Ensembl cytogenetic band:  19q13.2   HGNC cytogenetic band: 19q13.2

DMRTC2 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
DMRTC2 gene location

GeneLoc information about chromosome 19         GeneLoc Exon Structure

GeneLoc location for GC19P042349:  view genomic region     (about GC identifiers)

Start:
42,349,086 bp from pter      End:
42,356,398 bp from pter
Size:
7,313 bases      Orientation:
plus strand

(According to 1UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to 2PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE MOPED and PaxDb, 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 Uscn,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Uscn, Ontologies according to Gene Ontology Consortium 01 Mar 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, and/or Uscn)
About This Section

UniProtKB/Swiss-Prot: DMRTD_HUMAN, Q8IXT2 (See protein sequence)
Recommended Name: Doublesex- and mab-3-related transcription factor C2  
Size: 367 amino acids; 39124 Da
Subcellular location: Nucleus (Potential)
Secondary accessions: Q8N6Q2 Q96M39 Q96SD4
Alternative splicing: 2 isoforms:  Q8IXT2-1   Q8IXT2-2   (No experimental confirmation available. May be produced at very low levels due to a premature stop codon in the mRNA, leading to nonsense-mediated mRNA decay)

Explore the universe of human proteins at neXtProt for DMRTC2: NX_Q8IXT2

Post-translational modifications:

  • View modification sites using PhosphoSitePlus2
  • View neXtProt modification sites for NX_Q8IXT2

  • DMRTC2 Protein expression data from MOPED and PaxDb:    About this image 
    Estimated protein expression log10 (pmol).

    REFSEQ proteins: NP_001035373.1  
    ENSEMBL proteins: 
     ENSP00000269945  

    Human Recombinant Protein Products: 
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    Browse OriGene full length recombinant human proteins expressed in human HEK293 cells
    OriGene Protein Over-expression Lysate: DMRTC2
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    Novus Biologicals DMRTC2 Lysates
    Browse Sino Biological Recombinant Proteins
    Browse ProSpec Recombinant Proteins
    Uscn Proteins for DMRTC2

    Gene Ontology (GO): 1 cellular component term (GO ID links to tree view):    About this table

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


    DMRTC2 for ontologies           About GeneDecksing



    DMRTC2 Antibody Products: 
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    Uscn Antibodies for DMRTC2
    Search ThermoFisher Antibodies for DMRTC2

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    Uscn ELISAs and CLIAs for DMRTC2


    (According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section

    DMRTC2 for domains           About GeneDecksing

    2 InterPro domains/families:
     IPR026607 DMRT/dsx/mab-3
     IPR001275 DM_DNA-bd

    Graphical View of Domain Structure for InterPro Entry Q8IXT2

    ProtoNet protein and cluster: Q8IXT2

    1 Blocks protein family: IPB001275 DM DNA-binding

    UniProtKB/Swiss-Prot: DMRTD_HUMAN, Q8IXT2
    Similarity: Belongs to the DMRT family
    Similarity: Contains 1 DM DNA-binding domain


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013,
    bound targets from SABiosciences, miRNA Gene Targets from miRTarBase shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene.)
    About This Section

    Function Summary:

         UniProtKB/Swiss-Prot: DMRTD_HUMAN, Q8IXT2
    Function: May be involved in sexual development

    miRNA
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    QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat DMRTC2
    2 QIAGEN miScript miRNA Assays for microRNAs that regulate DMRTC2:
    hsa-miR-100* hsa-miR-3065-5p
    Browse SwitchGear 3'UTR luciferase reporter plasmids
    Inhib. RNA
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    OriGene shRNA RFP: DMRTC2
    OriGene siRNA: DMRTC2
    QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat DMRTC2

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    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat DMRTC2 

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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for DMRTC2

    Gene Ontology (GO): 2 molecular function terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0043565sequence-specific DNA binding IEA--
    GO:0046872metal ion binding IEA--


    DMRTC2 for ontologies           About GeneDecksing


    Animal Models:
         Mouse knock-out Dmrtc2tm1.2Zark for DMRTC2
         4 MGI mutant phenotypes (inferred from 4 alleles(MGI details for Dmrtc2):
     cellular  endocrine/exocrine gland  no phenotypic analysis  reproductive system 

    DMRTC2 for phenotypes           About GeneDecksing


    (Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, 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 Mar 2013 via Entrez Gene).
    About This Section



    Interactions:

        Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for DMRTC2

    STRING Interaction Network Preview (showing 3 interactants - click image to see more details)

    5/6 Interacting proteins for DMRTC2 (Q8IXT23 ENSP000002699454) via UniProtKB, MINT, STRING, and/or I2D (see all 6)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    ABTB1Q969K43, ENSP000002327444I2D: score=1 STRING: ENSP00000232744
    IRF9Q009783, ENSP000003800734I2D: score=1 STRING: ENSP00000380073
    IVNS1ABPQ9Y6Y03I2D: score=1 
    MCM6Q145663I2D: score=1 
    SREBF2Q127723I2D: score=1 
    About this table

    Gene Ontology (GO): 4 biological process terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006351transcription, DNA-dependent IEA--
    GO:0006355regulation of transcription, DNA-dependent IEA--
    GO:0007548sex differentiation IEA--
    GO:0030154cell differentiation IEA--


    DMRTC2 for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
    About This Section
    Browse Small Molecules at EMD Millipore
    Browse drugs & compounds from Enzo Life Sciences

    Browse Tocris compounds for DMRTC2
    Search CenterWatch for drugs/clinical trials and news about DMRTC2 / DMRTD 

    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 235 Homo sapiens; Mar 10 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    RNAi Products from EMD Millipore,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
    Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section

    REFSEQ mRNAs for DMRTC2 gene (2 alternative transcripts): 
    NM_033052.1  NM_001040283.1  

    Unigene Cluster for DMRTC2:

    DMRT-like family C2
    Hs.350507  [show with all ESTs]
    Unigene Representative Sequence: NM_001040283
    1 Ensembl transcript including schematic representation, and UCSC links where relevant:
    ENST00000269945(uc002orr.1 uc002ors.3 uc010xwe.2)

    miRNA
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    QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat DMRTC2
    2 QIAGEN miScript miRNA Assays for microRNAs that regulate DMRTC2:
    hsa-miR-100* hsa-miR-3065-5p
    Browse SwitchGear 3'UTR luciferase reporter plasmids
    Inhib. RNA
    Products:
         
    Browse for Gene Knock-down Tools from EMD Millipore
    OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for DMRTC2 (see all 7)
    OriGene shRNA RFP: DMRTC2
    OriGene siRNA: DMRTC2
    QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat DMRTC2
    Clone
    Products:
         
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    GenScript: all cDNA clones in your preferred vector: DMRTC2 (NM_001040283)
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      QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat DMRTC2
      QIAGEN QuantiFast Probe-based Assays in human, mouse, rat DMRTC2

    Additional cDNA sequence: 

    AJ291669.1 AK301822.1 BC029202.1 BC039266.1 

    5 DOTS entries:

    DT.97789552  DT.121419772  DT.121419773  DT.40127844  DT.95157651 

    24 AceView cDNA sequences:

    AW340297 AJ291669 BM553150 AW236959 AI990612 NM_033052 BC029202 BX095905 
    BM559969 AI126267 AK057404 BC039266 BI829184 AA993932 BE503694 BI562118 
    AI651482 AW593555 AL449525 BI828716 AW340200 AL449522 AL449524 AL449523 

    GeneLoc Exon Structure

    5/7 Alternative Splicing Database (ASD) splice patterns (SP) for DMRTC2 (see all 7)    About this scheme

    ExUns: 1a · 1b ^ 2a · 2b · 2c ^ 3a · 3b ^ 4 ^ 5 ^ 6a · 6b ^ 7a · 7b · 7c · 7d · 7e ^ 8 ^ 9a · 9b ^ 10 ^ 11a · 11b
    SP1:                          -     -     -                             -                                   -                           
    SP2:              -     -     -     -     -                                                                 -                           
    SP3:              -     -     -     -     -                             -                                                               
    SP4:                          -     -     -                                                                                             
    SP5:                                -                                                                                                   


    ECgene alternative splicing isoforms for DMRTC2

    (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™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

    DMRTC2 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS
    CGAP TAG: --

    Microarray
    RNAseq (Illumina Body Map)
    (100×FPKM)½
    SAGE (Serial Analysis of Gene Expression)

    About this image
    See DMRTC2 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for DMRTC2

    SOURCE GeneReport for Unigene cluster: Hs.350507

    UniProtKB/Swiss-Prot: DMRTD_HUMAN, Q8IXT2
    Tissue specificity: Expressed in testis and pancreas

        SABiosciences Custom PCR Arrays for DMRTC2
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    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for DMRTC2

    (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)
    About This Section

    This gene was present in the common ancestor of animals.

    Orthologs for DMRTC2 gene from 3/14 species (see all 14)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Dmrtc21 , 5 doublesex and mab-3 related transcription factor like more1, 5 85.38(n)1
    81.2(a)1
      7 (13.33 cM)5
    712411  NM_027732.21  NP_082008.11 
     248700575 
    fruit fly
    (Drosophila melanogaster)
    Insecta dsx6
    doublesex
    10(a)
    1 → many
    3R(3750045-3793130)
    worm
    (Caenorhabditis elegans)
    Secernentea dmd-36
    dmd-106
    (see all 3)
    --
    15(a)
    14(a)
    (see all 3)
    many ↔ many
    many ↔ many
    (see all 3)
    V(19650408-19655221)
    V(13222642-13225927)


    ENSEMBL Gene Tree for DMRTC2 (if available)
    TreeFam Gene Tree for DMRTC2 (if available) 

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for DMRTC2 gene
    DMRTC12  DMRTC1B2  
    1 SIMAP similar gene for DMRTC2 using alignment to 5 protein entries:     DMRTD_HUMAN (see all proteins):
    DMRT2

    DMRTC2 for paralogs           About GeneDecksing



    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, UniProtKB, 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) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
    About This Section

    10/181 NCBI SNPs in DMRTC2 are shown (see all 181    About this table
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 19 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs586433041,2
    C--42347146(+) AAAAAA/C/G/
            
    CCAAC
    2 -- int1 us2k11WA 2
    rs1897426781,2
    --42347386(+) TACTAC/TCTTCT 2 -- int1 us2k10--------
    rs1462017971,2
    --42347454(+) TACCAC/TAAGTA 2 -- us2k1 int10--------
    rs730493471,2
    C,F,--42347659(+) TTTATC/GTAGGA 2 -- ut51 us2k11Minor allele frequency- G:0.03NA 120
    rs1821976731,2
    --42347918(+) CCTAAA/CAAGCT 2 -- ut51 us2k10--------
    rs735491451,2
    C,--42347943(+) ACGCAA/GCCAGA 2 -- us2k1 ut512Minor allele frequency- G:0.04WA 120
    rs1391010611,2
    --42348050(+) CAAATA/TGATGG 2 -- us2k1 ut510--------
    rs1880392631,2
    --42348231(+) ATGGCA/GGGATG 2 -- us2k1 ut510--------
    rs768125951,2
    C,--42348345(+) CAGCCA/GGAAAT 2 -- ut51 us2k13Minor allele frequency- G:0.13CSA WA 121
    rs1932469211,2
    --42348372(+) CGTCCA/CCGGTA 2 -- us2k1 ut510--------

    HapMap Linkage Disequilibrium report for DMRTC2 (42349086 - 42356398 bp)
    Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
          Database of Genomic Variants (DGV) variations for DMRTC2: --

    SABiosciences Cancer Mutation PCR Assays
    QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing DMRTC2
    DNA2.0 Custom Variant and Variant Library Synthesis for DMRTC2

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section

    DMRTC2 for disorders           About GeneDecksing

    OMIM gene information: 614806    OMIM disorders: --

    1 disease for DMRTC2:    About MalaCards
    neuronitis


    Export disorders for DMRTC2 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)
    About This Section

    PubMed articles for DMRTC2 gene integrated from 9 sources:
    (articles sorted by number of sources associating them with DMRTC2)
        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. (2002)
    2. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)1, 2 Gerhard D.S....Malek J. (2004)
    3. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (2004)
    4. An atlas of combinatorial transcriptional regulation in mouse and man. (PubMed id 20211142)1 Ravasi T....Hayashizaki Y. (2010)
    5. Diversification of transcriptional modulation: large-scale identification and characterization of putative alternative promoters of human genes. (PubMed id 16344560)1 Kimura K.... Sugano S. (2006)
    6. 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. (2002)

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     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)
    About This Section
    Entrez Gene: 63946 HGNC: 13911 AceView: DMRTC2 Ensembl:ENSG00000142025 euGenes: HUgn63946
    ECgene: DMRTC2 H-InvDB: DMRTC2

    (According to HUGE)
    About This Section
      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
    Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
    About This Section
    NameDescription
    PharmGKB entry for DMRTC2 Pharmacogenomics, SNPs, Pathways

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section
    Patent Information for DMRTC2 gene:
    Search GeneIP for patents involving DMRTC2

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