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DMRT1 Gene

protein-coding   GIFtS: 53
GCID: GC09P000831

Doublesex And Mab-3 Related Transcription Factor 1

  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
Doublesex And Mab-3 Related Transcription Factor 11 2
DMT12 3 5
DM Domain Expressed In Testis 11 2
DM Domain Expressed In Testis Protein 12 3
CT1542
Doublesex- And Mab-3-Related Transcription Factor 12

External Ids:    HGNC: 29341   Entrez Gene: 17612   Ensembl: ENSG000001370907   OMIM: 6024245   UniProtKB: Q9Y5R63   

Export aliases for DMRT1 gene to outside databases

Previous GC identifers: GC09P001008 GC09P000822


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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Entrez Gene summary for DMRT1 Gene:
This gene is found in a cluster with two other members of the gene family, having in common a zinc finger-like
DNA-binding motif (DM domain). The DM domain is an ancient, conserved component of the vertebrate sex-determining
pathway that is also a key regulator of male development in flies and nematodes. This gene exhibits a
gonad-specific and sexually dimorphic expression pattern. Defective testicular development and XY feminization
occur when this gene is hemizygous. (provided by RefSeq, Jul 2008)

GeneCards Summary for DMRT1 Gene:
DMRT1 (doublesex and mab-3 related transcription factor 1) is a protein-coding gene. Diseases associated with DMRT1 include chromosome 9p deletion, and 46xy sex reversal 6. GO annotations related to this gene include core promoter proximal region sequence-specific DNA binding and sequence-specific DNA binding transcription factor activity. An important paralog of this gene is DMRT2.

UniProtKB/Swiss-Prot: DMRT1_HUMAN, Q9Y5R6
Function: Transcription factor that plays a key role in male sex determination and differentiation by controlling
testis development and male germ cell proliferation. Plays a central role in spermatogonia by inhibiting meiosis
in undifferentiated spermatogonia and promoting mitosis, leading to spermatogonial development and allowing
abundant and continuous production of sperm. Acts both as a transcription repressor and activator: prevents
meiosis by restricting retinoic acid (RA)-dependent transcription and repressing STRA8 expression and promotes
spermatogonial development by activating spermatogonial differentiation genes, such as SOHLH1. Also plays a key
role in postnatal sex maintenance by maintaining testis determination and preventing feminization: represses
transcription of female promoting genes such as FOXL2 and activates male-specific genes. May act as a tumor
suppressor. May also play a minor role in oogenesis (By similarity)

Gene Wiki entry for DMRT1 Gene


(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_000009.12  NT_008413.19  NC_018920.2  
Regulatory elements:
   Regulatory transcription factor binding sites in the DMRT1 gene promoter:
         Egr-3   RFX1   FOXF2   Pax-5   POU3F2   C/EBPalpha   GATA-1   Evi-1   Sox9   SEF-1 (1)   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidDMRT1 promoter sequence
   Search Chromatin IP Primers for DMRT1

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat DMRT1


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

Entrez Gene cytogenetic band: 9p24.3   Ensembl cytogenetic band:  9p24.3   HGNC cytogenetic band: 9p24.3

DMRT1 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
DMRT1 gene location

GeneLoc information about chromosome 9         GeneLoc Exon Structure

GeneLoc location for GC09P000831:  view genomic region     (about GC identifiers)

Start:
841,690 bp from pter      End:
969,090 bp from pter
Size:
127,401 bases      Orientation:
plus 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: DMRT1_HUMAN, Q9Y5R6 (See protein sequence)
Recommended Name: Doublesex- and mab-3-related transcription factor 1  
Size: 373 amino acids; 39473 Da
Developmental stage: Expressed in the genital ridges of six-week-old male embryos. Becomes confined to the forming
seminiferous tubules (probably Sertoli cells) at seven weeks. Not detected in female embryos
Secondary accessions: B2R913 Q6T1H8 Q6T1H9 Q8IW77
Alternative splicing: 3 isoforms:  Q9Y5R6-1   Q9Y5R6-2   Q9Y5R6-3   

Explore the universe of human proteins at neXtProt for DMRT1: NX_Q9Y5R6

Explore proteomics data for DMRT1 at MOPED

Post-translational modifications: 

  • Modification sites at neXtProt
  • Modification sites at PhosphoSitePlus

  • See DMRT1 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins: NP_068770.2  
    ENSEMBL proteins: 
     ENSP00000371711   ENSP00000454701  

    DMRT1 Human Recombinant Protein Products:

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    Cloud-Clone Corp. CLIAs for DMRT1


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    3 InterPro protein domains:
     IPR022114 DMRT1-like
     IPR026607 DMRT/dsx/mab-3
     IPR001275 DM_DNA-bd

    Graphical View of Domain Structure for InterPro Entry Q9Y5R6

    ProtoNet protein and cluster: Q9Y5R6

    1 Blocks protein domain: IPB001275 DM DNA-binding

    UniProtKB/Swiss-Prot: DMRT1_HUMAN, Q9Y5R6
    Similarity: Belongs to the DMRT family
    Similarity: Contains 1 DM DNA-binding domain


    DMRT1 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: DMRT1_HUMAN, Q9Y5R6
    Function: Transcription factor that plays a key role in male sex determination and differentiation by controlling
    testis development and male germ cell proliferation. Plays a central role in spermatogonia by inhibiting meiosis
    in undifferentiated spermatogonia and promoting mitosis, leading to spermatogonial development and allowing
    abundant and continuous production of sperm. Acts both as a transcription repressor and activator: prevents
    meiosis by restricting retinoic acid (RA)-dependent transcription and repressing STRA8 expression and promotes
    spermatogonial development by activating spermatogonial differentiation genes, such as SOHLH1. Also plays a key
    role in postnatal sex maintenance by maintaining testis determination and preventing feminization: represses
    transcription of female promoting genes such as FOXL2 and activates male-specific genes. May act as a tumor
    suppressor. May also play a minor role in oogenesis (By similarity)

         Genatlas biochemistry entry for DMRT1:
    double sex (Drosophila) and MAB-3 (C elegans) related transcription factor 1,specifically expressed in the
    testis,involved in testis development

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

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000987core promoter proximal region sequence-specific DNA binding ISS--
    GO:0003700sequence-specific DNA binding transcription factor activity IEA--
    GO:0042803protein homodimerization activity IEA--
    GO:0043565sequence-specific DNA binding ----
    GO:0046872metal ion binding IEA--
         
    DMRT1 for ontologies           About GeneDecksing


    Phenotypes:
         2 MGI mutant phenotypes (inferred from 2 alleles(MGI details for Dmrt1):
     endocrine/exocrine gland  reproductive system 

    DMRT1 for phenotypes           About GeneDecksing

    Animal Models:
         MGI mouse knock-out Dmrt1tm1.1Zark for DMRT1

       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for DMRT1
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       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for DMRT1
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for DMRT1

    miRNA
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    Block miRNA regulation of human, mouse, rat DMRT1 using miScript Target Protectors
    Selected qRT-PCR Assays for microRNAs that regulate DMRT1 (see all 15):
    hsa-miR-579 hsa-miR-495 hsa-miR-7-2* hsa-miR-513a-3p hsa-miR-513c hsa-miR-124 hsa-miR-7-1* hsa-miR-891b
    SwitchGear 3'UTR luciferase reporter plasmidDMRT1 3' UTR sequence
    Inhib. RNA
    Products:
        
    OriGene RNAi products in human, mouse, rat for DMRT1
    Predesigned siRNA for gene silencing in human, mouse, rat DMRT1

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    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector: DMRT1 (NM_021951)
    Browse Sino Biological Human cDNA Clones
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for DMRT1
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat DMRT1

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    In Situ Assay
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for DMRT1


    (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
    DMRT1_HUMAN, Q9Y5R6: Nucleus (By similarity)
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    nucleus4
    cytosol2

    Gene Ontology (GO): 2 cellular component terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005634nucleus ISS--
    GO:0005737cytoplasm IEA--

    DMRT1 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 DMRT1
    Interactions:

        Search GeneGlobe Interaction Network for DMRT1

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

    Selected Interacting proteins for DMRT1 (Q9Y5R62, 3 ENSP000003717114) via UniProtKB, MINT, STRING, and/or I2D (see all 8)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    TRIM29Q141343, ENSP000003431294I2D: score=1 STRING: ENSP00000343129
    SOX9P484363, ENSP000002454794I2D: score=1 STRING: ENSP00000245479
    E2F4Q162543I2D: score=1 
    KAT2AQ928303I2D: score=1 
    SOX10ENSP000003541304STRING: ENSP00000354130
    About this table

    Gene Ontology (GO): Selected biological process terms (see all 21):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000122negative regulation of transcription from RNA polymerase II promoter ISS--
    GO:0000902cell morphogenesis IEA--
    GO:0002176male germ cell proliferation ISS--
    GO:0003006developmental process involved in reproduction ----
    GO:0006351transcription, DNA-templated IEA--

    DMRT1 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 DMRT1

    2 Novoseek inferred chemical compound relationships for DMRT1 gene    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    dmrt 90 1 16962738 (1)
    zinc 14.6 3 17459496 (2)



    DMRT1 for compounds           About GeneDecksing



    (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 DMRT1 gene: 
    NM_021951.2  

    Unigene Cluster for DMRT1:

    Doublesex and mab-3 related transcription factor 1
    Hs.98586  [show with all ESTs]
    Unigene Representative Sequence: NM_021951
    3 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000564322(uc003zgu.1) ENST00000382276(uc003zgv.3) ENST00000569227

    miRNA
    Products:
         
    Block miRNA regulation of human, mouse, rat DMRT1 using miScript Target Protectors
    Selected qRT-PCR Assays for microRNAs that regulate DMRT1 (see all 15):
    hsa-miR-579 hsa-miR-495 hsa-miR-7-2* hsa-miR-513a-3p hsa-miR-513c hsa-miR-124 hsa-miR-7-1* hsa-miR-891b
    SwitchGear 3'UTR luciferase reporter plasmidDMRT1 3' UTR sequence
    Inhib. RNA
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    OriGene RNAi products in human, mouse, rat for DMRT1
    Predesigned siRNA for gene silencing in human, mouse, rat DMRT1
    Clone
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    OriGene ORF clones in mouse, rat for DMRT1
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector: DMRT1 (NM_021951)
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for DMRT1
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat DMRT1
    Primer
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    OriGene qPCR primer pairs and template standards for DMRT1
    OriGene qSTAR qPCR primer pairs in human, mouse for DMRT1
    Pre-validated RT2 qPCR Primer Assay in human, mouse, rat DMRT1
      QuantiTect SYBR Green Assays in human, mouse, rat DMRT1
      QuantiFast Probe-based Assays in human, mouse, rat DMRT1

    Additional mRNA sequence: 

    AF130728.1 AJ276801.1 AK310336.1 AK313594.1 AL162131.1 AY442914.1 AY442915.1 BC040847.1 

    4 DOTS entries:

    DT.204209  DT.102822517  DT.121145513  DT.95361852 

    Selected AceView cDNA sequences (see all 60):

    AL162131 BI826538 AJ276801 AA432207 BC040847 BG212041 BG206964 BG202784 
    AY442914 BU567221 BG206963 AI203184 AW663907 AF130728 NM_021951 BG202785 
    AI217960 AW663904 AL043067 BG205913 BG219053 BG185721 BG185197 BG221479 

    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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    DMRT1 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: TAGTTTTCAA
    DMRT1 Expression
    About this image


    DMRT1 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 3) fully expand
     
     Testis (Reproductive System)    fully expand to see all 4 entries
             Pre-Sertoli Cells Testis Cord
             Seminiferous Tubules
     
     Liver (Hepatobiliary System)
             Hepatocytes Liver Lobule
     
     Gonad
             XY Germ Cells Testis Cord
    DMRT1 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    DMRT1 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.98586

    UniProtKB/Swiss-Prot: DMRT1_HUMAN, Q9Y5R6
    Tissue specificity: Testis-specific. Expressed in prostate cancer (at protein level)

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    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for DMRT1

    (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 DMRT1 gene from Selected species (see all 14)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Dmrt11 , 5 doublesex and mab-3 related transcription factor 11, 5 83.56(n)1
    82.21(a)1
      19 (20.45 cM)5
    507961  NM_015826.51  NP_056641.21 
     255056185 
    chicken
    (Gallus gallus)
    Aves DMRT16
    doublesex- and mab-3-related transcription factor ...
    66(a)
    1 ↔ 1
    Z(25808415-25864441)
    lizard
    (Anolis carolinensis)
    Reptilia DMRT16
    doublesex and mab-3 related transcription factor 1...
    61(a)
    1 ↔ 1
    2(50313342-50357425)
    tropical clawed frog
    (Xenopus tropicalis)
    Amphibia dmrt11 doublesex and mab-3 related transcription factor 1 66.23(n)
    70.78(a)
      100488257  XM_002935602.2  XP_002935648.2 
    zebrafish
    (Danio rerio)
    Actinopterygii Dr.293932 Danio rerio Dmrt1 mRNA, complete cds 80.93(n)    AY157561.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta dsx6
    doublesex
    13(a)
    1 → many
    3R(3750045-3793130)
    worm
    (Caenorhabditis elegans)
    Secernentea dmd-106
    Protein DMD-10 (dmd-10) mRNA, complete cds
    18(a)
    many ↔ many
    V(13222656-13225941) WBGene00007929


    ENSEMBL Gene Tree for DMRT1 (if available)
    TreeFam Gene Tree for DMRT1 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for DMRT1 gene
    DMRT22  DMRT32  DMRTA22  DMRTA12  DMRTB12  

    DMRT1 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 DMRT1 (see all 4305)    About this table    
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 9 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs9121641,2
    C,H--792456(+) CCAGGT/GGTGTG 1 -- us2k112Minor allele frequency- G:0.00NS EA NA WA CSA 432
    rs736394351,2
    C--797501(+) AGACCC/TTGCCT 1 -- int11Minor allele frequency- T:0.50WA 2
    rs1440286171,2
    C--801887(+) TCTCt-/C/CTC 
            
    ttttt
    2 -- int1 cds10--------
    rs1996009231,2
    C--804007(+) TTTTTG/TTTTTT 1 -- int10--------
    rs595661561,2
    C--807761(+) GAAACAT/-GTAAA 1 -- int11Minor allele frequency- -:0.50CSA 2
    rs78690681,2
    C,A,H--809783(+) aaaaaA/Tatata 1 -- int13Minor allele frequency- T:0.00NA WA 6
    rs78654191,2
    C,F,A,H--809784(+) aaaatT/Atatat 1 -- int13Minor allele frequency- A:0.50NA WA 6
    rs713273481,2
    C--809784(-) ATATAA/-TATTT 1 -- int11Minor allele frequency- -:0.00NA 2
    rs2003579981,2
    C--824097(+) TTTGT-/TTTTTA 1 -- int10--------
    rs354708001,2
    C,F--834522(+) GCACTC/GCAGCC 1 -- us2k14Minor allele frequency- G:0.38NA WA 8

    HapMap Linkage Disequilibrium report for DMRT1 (841690 - 969090 bp)

    Structural Variations
         Database of Genomic Variants (DGV) Selected variations for DMRT1 (see all 26):    About this table    
    Variant IDTypeSubtypePubMed ID
    esv2738130CNV Deletion23290073
    esv2738129CNV Deletion23290073
    esv2669007CNV Deletion23128226
    esv2738127CNV Deletion23290073
    dgv1318e199CNV Deletion23128226
    nsv436609CNV Deletion17901297
    esv1992620CNV Deletion18987734
    esv2673376CNV Deletion23128226
    esv2662589CNV Deletion23128226
    esv2570062CNV Insertion19546169

    Human Gene Mutation Database (HGMD): DMRT1
    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing DMRT1
    DNA2.0 Custom Variant and Variant Library Synthesis for DMRT1

    (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: 602424    OMIM disorders: --

    UniProtKB/Swiss-Prot: DMRT1_HUMAN, Q9Y5R6
  • Testicular germ cell tumor (TGCT) [MIM:273300]: A common malignancy in males representing 95% of all
    testicular neoplasms. TGCTs have various pathologic subtypes including: unclassified intratubular germ cell
    neoplasia, seminoma (including cases with syncytiotrophoblastic cells), spermatocytic seminoma, embryonal
    carcinoma, yolk sac tumor, choriocarcinoma, and teratoma. Note=The disease may be caused by mutations affecting
    the gene represented in this entry
  • 46,XY sex reversal 4 (SRXY4) [MIM:154230]: A condition characterized by male-to-female sex reversal in
    the presence of a normal 46,XY karyotype. Patients display complete or partial gonadal dysgenesis and a
    chromosome 9p deletion. Note=The disease may be caused by mutations affecting the gene represented in this entry

  • Selected diseases for DMRT1 (see all 23):    
    About MalaCards
    chromosome 9p deletion    46xy sex reversal 6    germinoma    hermaphroditism
    germ cell cancer    dysgerminoma    spermatogenic failure    gonadal dysgenesis
    cryptorchidism    testicular cancer    seminoma    testicular germ cell tumor
    germ cell tumors    major depressive disorder    infertility    mental retardation
    diabetes mellitus    squamous cell carcinoma    obesity    prostate cancer

    2 diseases from the University of Copenhagen DISEASES database for DMRT1:
    Gonadal dysgenesis     Testicular cancer

    DMRT1 for disorders           About GeneDecksing

    Genetic Association Database (GAD): DMRT1
    Human Genome Epidemiology (HuGE) Navigator: DMRT1 (2 documents)

    Export disorders for DMRT1 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 DMRT1 gene, integrated from 10 sources (see all 68):
    (articles sorted by number of sources associating them with DMRT1)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. A region of human chromosome 9p required for testis development contains two genes related to known sexual regulators. (PubMed id 10332030)1, 2, 3, 9 Raymond C.S.... Zarkower D. (Hum. Mol. Genet. 1999)
    2. Evidence for evolutionary conservation of sex-determining genes. (PubMed id 9490411)1, 2, 3, 9 Raymond C.S.... Zarkower D. (Nature 1998)
    3. Variants near DMRT1, TERT and ATF7IP are associated with testicular germ cell cancer. (PubMed id 20543847)1, 2, 4 Turnbull C.... Rahman N. (Nat. Genet. 2010)
    4. Transcriptional diversity of DMRT1 (dsx- and mab3-related transcription factor 1) in human testis. (PubMed id 16617334)1, 2, 9 Cheng H.H.... Zhou R.J. (Cell Res. 2006)
    5. A new submicroscopic deletion that refines the 9p region for sex reversal. (PubMed id 10857744)1, 2, 9 Calvari V.... Guioli S. (Genomics 2000)
    6. A second independent locus within DMRT1 is associated with testicular germ cell tumor susceptibility. (PubMed id 21551455)1, 4 Kanetsky P.A....Nathanson K.L. (Hum. Mol. Genet. 2011)
    7. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PubMed id 20379614)1, 4 Rose J.E....Uhl G.R. (Mol. Med. 2010)
    8. DNA sequence and analysis of human chromosome 9. (PubMed id 15164053)1, 2 Humphray S.J.... Dunham I. (Nature 2004)
    9. 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. (Genome Res. 2004)
    10. The DM domain protein DMRT1 is a dose-sensitive regulator of fetal germ cell proliferation and pluripotency. (PubMed id 20007774)1, 9 Krentz A.D....Zarkower D. (Proc. Natl. Acad. Sci. U.S.A. 2009)

    (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: 1761 HGNC: 2934 AceView: DMRT1 Ensembl:ENSG00000137090 euGenes: HUgn1761
    ECgene: DMRT1 H-InvDB: DMRT1

    (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 DMRT1 Pharmacogenomics, SNPs, Pathways

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section

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    Patent Information for DMRT1 gene:
    Search GeneIP for patents involving DMRT1

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



    (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
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