Human Gene DMRT2 (uc011llt.2) Description and Page Index
  Description: Homo sapiens doublesex and mab-3 related transcription factor 2 (DMRT2), transcript variant 2, mRNA.
RefSeq Summary (NM_001130865): The protein encoded by this gene belongs to the DMRT gene family, sharing a DM DNA-binding domain with Drosophila 'doublesex' (dsx) and C. elegans mab3, genes involved in sex determination in these organisms. Also, this gene is located in a region of the human genome (chromosome 9p24.3) associated with gonadal dysgenesis and XY sex reversal. Hence this gene is one of the candidates for sex-determining gene(s) on chr 9. [provided by RefSeq, Apr 2010]. ##Evidence-Data-START## Transcript exon combination :: BC030204.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMEA1970526, SAMEA2159080 [ECO:0000348] ##Evidence-Data-END##
Transcript (Including UTRs)
   Position: hg19 chr9:1,050,354-1,057,554 Size: 7,201 Total Exon Count: 6 Strand: +
Coding Region
   Position: hg19 chr9:1,051,614-1,055,774 Size: 4,161 Coding Exon Count: 3 

Page IndexSequence and LinksGenetic AssociationsCTDGene AllelesRNA-Seq Expression
Microarray ExpressionRNA StructureProtein StructureOther SpeciesGO AnnotationsmRNA Descriptions
Other NamesModel InformationMethods
Data last updated: 2013-06-15

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr9:1,050,354-1,057,554)mRNA (may differ from genome)Protein (226 aa)
Gene SorterGenome BrowserOther Species FASTAVisiGeneGene interactionsTable Schema
BioGPSCGAPEnsemblEntrez GeneExonPrimerGeneCards
GeneNetworkH-INVHGNCLynxMGIOMIM
PubMedStanford SOURCETreefamUniProtKB

-  Genetic Association Studies of Complex Diseases and Disorders
  Genetic Association Database (archive): DMRT2
CDC HuGE Published Literature: DMRT2
Positive Disease Associations: Attention Deficit Disorder with Hyperactivity , Exercise Test , hyperactive-impulsive symptoms
Related Studies:
  1. Attention Deficit Disorder with Hyperactivity
    Jessica Lasky-Su et al. American journal of medical genetics. Part B, Neuropsychiatric genetics 2008, Genome-wide association scan of quantitative traits for attention deficit hyperactivity disorder identifies novel associations and confirms candidate gene associations., American journal of medical genetics. Part B, Neuropsychiatric genetics : the official publication of the International Society of Psychiatric Genetic. [PubMed 18821565]
  2. Exercise Test
    Ramachandran S Vasan et al. BMC medical genetics 2007, Genome-wide association of echocardiographic dimensions, brachial artery endothelial function and treadmill exercise responses in the Framingham Heart Study., BMC medical genetics. [PubMed 17903301]
    In hypothesis-generating GWAS of echocardiography, ETT and BA vascular function in a moderate-sized community-based sample, we identified several SNPs that are candidates for replication attempts and we provide a web-based GWAS resource for the research community.
  3. Exercise Test
    Ramachandran S Vasan et al. BMC medical genetics 2007, Genome-wide association of echocardiographic dimensions, brachial artery endothelial function and treadmill exercise responses in the Framingham Heart Study., BMC medical genetics. [PubMed 17903301]
    In hypothesis-generating GWAS of echocardiography, ETT and BA vascular function in a moderate-sized community-based sample, we identified several SNPs that are candidates for replication attempts and we provide a web-based GWAS resource for the research community.
           more ... click here to view the complete list

-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene           more ... click here to view the complete list

+  Common Gene Haplotype Alleles
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-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 11.76 RPKM in Kidney - Cortex
Total median expression: 27.73 RPKM



View in GTEx track of Genome Browser    View at GTEx portal     View GTEx Body Map

+  Microarray Expression Data
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-  mRNA Secondary Structure of 3' and 5' UTRs
 
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -143.70329-0.437 Picture PostScript Text
3' UTR -386.561364-0.283 Picture PostScript Text

The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.

-  Protein Domain and Structure Information
  InterPro Domains: Graphical view of domain structure
IPR001275 - DM_DNA-bd
IPR026607 - DMRT/dsx/mab-3

Pfam Domains:
PF00751 - DM DNA binding domain

SCOP Domains:
82927 - Cysteine-rich DNA binding domain, (DM domain)

ModBase Predicted Comparative 3D Structure on Q05C20
FrontTopSide
The pictures above may be empty if there is no ModBase structure for the protein. The ModBase structure frequently covers just a fragment of the protein. You may be asked to log onto ModBase the first time you click on the pictures. It is simplest after logging in to just click on the picture again to get to the specific info on that model.

-  Orthologous Genes in Other Species
  Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
MouseRatZebrafishD. melanogasterC. elegansS. cerevisiae
No orthologNo orthologNo orthologNo orthologNo orthologNo ortholog
Gene Details     
Gene Sorter     
      
      
      

-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0003677 DNA binding
GO:0003700 transcription factor activity, sequence-specific DNA binding
GO:0043565 sequence-specific DNA binding
GO:0046872 metal ion binding

Biological Process:
GO:0006355 regulation of transcription, DNA-templated

Cellular Component:
GO:0005634 nucleus
GO:0016020 membrane
GO:0016021 integral component of membrane


-  Descriptions from all associated GenBank mRNAs
  AK290794 - Homo sapiens cDNA FLJ77088 complete cds, highly similar to Homo sapiens doublesex and mab-3 related transcription factor 2 (DMRT2), transcript variant 1, mRNA.
BX647565 - Homo sapiens mRNA; cDNA DKFZp313M1824 (from clone DKFZp313M1824).
BC030204 - Homo sapiens doublesex and mab-3 related transcription factor 2, mRNA (cDNA clone IMAGE:5201171), complete cds.
AF284221 - Homo sapiens DMRT2 (DMRT2) mRNA, long 5'UTR and partial cds, alternatively spliced.
AF284222 - Homo sapiens DMRT2 (DMRT2) mRNA, short 5'UTR and partial cds, alternatively spliced.
Y19052 - Homo sapiens mRNA for doublesex-like 2 protein (DSXL-2 gene).
AF130729 - Homo sapiens DM domain-containing transcription factor DMRT2 (DMRT2) mRNA, complete cds.
BC136493 - Homo sapiens doublesex and mab-3 related transcription factor 2, mRNA (cDNA clone MGC:168105 IMAGE:9020482), complete cds.
AB463578 - Synthetic construct DNA, clone: pF1KB9690, Homo sapiens DMRT2 gene for doublesex and mab-3 related transcription factor 2, without stop codon, in Flexi system.
AF284223 - Homo sapiens DMRT2 and terra-like protein (DMRT2) bicistronic mRNA, complete cds, alternatively spliced.
AF284224 - Homo sapiens DMRT2 and terra-like protein (DMRT2) bicistronic mRNA, complete cds, alternatively spliced.
AF284225 - Homo sapiens DMRT2/terra-like protein (DMRT2) mRNA, complete cds, alternatively spliced.
JD090610 - Sequence 71634 from Patent EP1572962.
JD165855 - Sequence 146879 from Patent EP1572962.
JD120006 - Sequence 101030 from Patent EP1572962.
JD113382 - Sequence 94406 from Patent EP1572962.
JD106408 - Sequence 87432 from Patent EP1572962.
JD555028 - Sequence 536052 from Patent EP1572962.
JD444915 - Sequence 425939 from Patent EP1572962.
JD298558 - Sequence 279582 from Patent EP1572962.
JD520949 - Sequence 501973 from Patent EP1572962.
JD053944 - Sequence 34968 from Patent EP1572962.
JD326286 - Sequence 307310 from Patent EP1572962.
JD403516 - Sequence 384540 from Patent EP1572962.
JD565546 - Sequence 546570 from Patent EP1572962.
JD310237 - Sequence 291261 from Patent EP1572962.
JD518418 - Sequence 499442 from Patent EP1572962.
JD519886 - Sequence 500910 from Patent EP1572962.
JD311435 - Sequence 292459 from Patent EP1572962.
JD480638 - Sequence 461662 from Patent EP1572962.
JD360424 - Sequence 341448 from Patent EP1572962.
JD095025 - Sequence 76049 from Patent EP1572962.
JD409545 - Sequence 390569 from Patent EP1572962.
JD065841 - Sequence 46865 from Patent EP1572962.
JD417343 - Sequence 398367 from Patent EP1572962.
JD228720 - Sequence 209744 from Patent EP1572962.
JD498937 - Sequence 479961 from Patent EP1572962.

-  Other Names for This Gene
  Alternate Gene Symbols: NM_001130865, NP_006548, Q05C20, Q05C20_HUMAN, RP11-147I11.3-002
UCSC ID: uc011llt.2
RefSeq Accession: NM_001130865
Protein: Q05C20 CCDS: CCDS6445.1

-  Gene Model Information
 
category: coding nonsense-mediated-decay: no RNA accession: NM_001130865.2
exon count: 6CDS single in 3' UTR: no RNA size: 2383
ORF size: 681CDS single in intron: no Alignment % ID: 100.00
txCdsPredict score: 1538.00frame shift in genome: no % Coverage: 99.62
has start codon: yes stop codon in genome: no # of Alignments: 1
has end codon: yes retained intron: yes # AT/AC introns 0
selenocysteine: no end bleed into intron: 0# strange splices: 0
Click here for a detailed description of the fields of the table above.

-  Methods, Credits, and Use Restrictions
  Click here for details on how this gene model was made and data restrictions if any.