Free for academic non-profit institutions. Other users need a Commercial license

Aliases for DMRT2 Gene

Aliases for DMRT2 Gene

  • Doublesex And Mab-3 Related Transcription Factor 2 2 3 5
  • Doublesex-Like 2 Protein 3 4
  • Terra-Like Protein 2 3
  • DSXL-2 3 4
  • DSXL2 4

External Ids for DMRT2 Gene

Previous GeneCards Identifiers for DMRT2 Gene

  • GC09P001216
  • GC09P001031
  • GC09P001040
  • GC09P001050

Summaries for DMRT2 Gene

Entrez Gene Summary for DMRT2 Gene

  • 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]

GeneCards Summary for DMRT2 Gene

DMRT2 (Doublesex And Mab-3 Related Transcription Factor 2) is a Protein Coding gene. GO annotations related to this gene include transcription factor activity, sequence-specific DNA binding and sequence-specific DNA binding. An important paralog of this gene is DMRTA2.

UniProtKB/Swiss-Prot for DMRT2 Gene

  • Transcriptional activator that directly regulates early activation of the myogenic determination gene MYF5 by binding in a sequence-specific manner to the early epaxial enhancer element of it. Involved in somitogenesis during embryogenesis and somite development and differentiation into sclerotome and dermomyotome. Required for the initiation and/or maintenance of proper organization of the sclerotome, dermomyotome and myotome (By similarity).

No data available for Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for DMRT2 Gene

Genomics for DMRT2 Gene

Regulatory Elements for DMRT2 Gene

Enhancers for DMRT2 Gene
GeneHancer Identifier Score Enhancer Sources TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Other Gene Targets for Enhancer

Enhancers around DMRT2 on UCSC Golden Path with GeneCards custom track

Genomic Location for DMRT2 Gene

Chromosome:
9
Start:
1,003,242 bp from pter
End:
1,057,554 bp from pter
Size:
54,313 bases
Orientation:
Plus strand

Genomic View for DMRT2 Gene

Genes around DMRT2 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
DMRT2 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for DMRT2 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for DMRT2 Gene

Proteins for DMRT2 Gene

  • Protein details for DMRT2 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9Y5R5-DMRT2_HUMAN
    Recommended name:
    Doublesex- and mab-3-related transcription factor 2
    Protein Accession:
    Q9Y5R5
    Secondary Accessions:
    • B1ANC0
    • B9EGJ1
    • Q9NPG6
    • Q9NQR6

    Protein attributes for DMRT2 Gene

    Size:
    561 amino acids
    Molecular mass:
    61814 Da
    Quaternary structure:
    • Homodimer.

    Alternative splice isoforms for DMRT2 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for DMRT2 Gene

Proteomics data for DMRT2 Gene at MOPED

Post-translational modifications for DMRT2 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

No data available for DME Specific Peptides for DMRT2 Gene

Domains & Families for DMRT2 Gene

Protein Domains for DMRT2 Gene

InterPro:
Blocks:
ProtoNet:

Graphical View of Domain Structure for InterPro Entry

Q9Y5R5

UniProtKB/Swiss-Prot:

DMRT2_HUMAN :
  • Contains 1 DM DNA-binding domain.
  • Belongs to the DMRT family.
Domain:
  • Contains 1 DM DNA-binding domain.
Family:
  • Belongs to the DMRT family.
genes like me logo Genes that share domains with DMRT2: view

No data available for Gene Families for DMRT2 Gene

Function for DMRT2 Gene

Molecular function for DMRT2 Gene

GENATLAS Biochemistry:
double sex (Drosophila) and MAB-3 (C elegans) related transcription factor 2,specifically expressed in the testis,involved in testis development
UniProtKB/Swiss-Prot Function:
Transcriptional activator that directly regulates early activation of the myogenic determination gene MYF5 by binding in a sequence-specific manner to the early epaxial enhancer element of it. Involved in somitogenesis during embryogenesis and somite development and differentiation into sclerotome and dermomyotome. Required for the initiation and/or maintenance of proper organization of the sclerotome, dermomyotome and myotome (By similarity).

Gene Ontology (GO) - Molecular Function for DMRT2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000977 RNA polymerase II regulatory region sequence-specific DNA binding IEA --
GO:0003674 molecular_function ND --
GO:0042803 protein homodimerization activity IEA,IBA --
GO:0043565 sequence-specific DNA binding IEA --
genes like me logo Genes that share ontologies with DMRT2: view
genes like me logo Genes that share phenotypes with DMRT2: view

Animal Models for DMRT2 Gene

MGI Knock Outs for DMRT2:

Animal Model Products

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for DMRT2 Gene

Localization for DMRT2 Gene

Subcellular locations from UniProtKB/Swiss-Prot for DMRT2 Gene

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for DMRT2 Gene COMPARTMENTS Subcellular localization image for DMRT2 gene
Compartment Confidence
nucleus 5
cytosol 2

No data available for Gene Ontology (GO) - Cellular Components for DMRT2 Gene

Pathways & Interactions for DMRT2 Gene

SuperPathways for DMRT2 Gene

No Data Available

Interacting Proteins for DMRT2 Gene

Gene Ontology (GO) - Biological Process for DMRT2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0008150 biological_process ND --
GO:0014807 regulation of somitogenesis IEA --
GO:0048706 embryonic skeletal system development IEA --
GO:2000287 positive regulation of myotome development IEA --
genes like me logo Genes that share ontologies with DMRT2: view

No data available for Pathways by source and SIGNOR curated interactions for DMRT2 Gene

Drugs & Compounds for DMRT2 Gene

No Compound Related Data Available

Transcripts for DMRT2 Gene

Unigene Clusters for DMRT2 Gene

Doublesex and mab-3 related transcription factor 2:
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for DMRT2 Gene

ExUns: 1 ^ 2a · 2b ^ 3a · 3b · 3c ^ 4 ^ 5a · 5b ^ 6
SP1:
SP2: -
SP3: -
SP4: - -

Relevant External Links for DMRT2 Gene

GeneLoc Exon Structure for
DMRT2
ECgene alternative splicing isoforms for
DMRT2

Expression for DMRT2 Gene

mRNA expression in normal human tissues for DMRT2 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for DMRT2 Gene

This gene is overexpressed in Kidney - Cortex (x22.1).

Protein differential expression in normal tissues from HIPED for DMRT2 Gene

This gene is overexpressed in Cervix (44.6) and Fetal ovary (21.3).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, and MOPED for DMRT2 Gene



SOURCE GeneReport for Unigene cluster for DMRT2 Gene Hs.59506

mRNA Expression by UniProt/SwissProt for DMRT2 Gene

Q9Y5R5-DMRT2_HUMAN
Tissue specificity: Expressed in testis, kidney and skeletal muscle.
genes like me logo Genes that share expression patterns with DMRT2: view

Protein tissue co-expression partners for DMRT2 Gene

Primer Products

Orthologs for DMRT2 Gene

This gene was present in the common ancestor of animals.

Orthologs for DMRT2 Gene

Organism Taxonomy Gene Similarity Type Details
cow
(Bos Taurus)
Mammalia DMRT2 35
  • 88.65 (n)
  • 87.28 (a)
DMRT2 36
  • 88 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Dmrt2 35
  • 83.9 (n)
  • 83.78 (a)
Dmrt2 16
Dmrt2 36
  • 84 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia DMRT2 35
  • 97.86 (n)
  • 96.79 (a)
DMRT2 36
  • 97 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Dmrt2 35
  • 82.67 (n)
  • 82.37 (a)
dog
(Canis familiaris)
Mammalia DMRT2 36
  • 91 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia DMRT2 36
  • 73 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia DMRT2 36
  • 79 (a)
OneToOne
chicken
(Gallus gallus)
Aves DMRT2 35
  • 75.25 (n)
  • 73.23 (a)
DMRT2 36
  • 74 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia DMRT2 36
  • 66 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia dmrt2 35
  • 66.33 (n)
  • 66.47 (a)
zebrafish
(Danio rerio)
Actinopterygii dmrt2 35
dmrt2a 35
  • 61.81 (n)
  • 61.66 (a)
dmrt2a 36
  • 56 (a)
OneToOne
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.11633 35
fruit fly
(Drosophila melanogaster)
Insecta dmrt11E 36
  • 23 (a)
OneToOne
worm
(Caenorhabditis elegans)
Secernentea dmd-3 36
  • 24 (a)
ManyToMany
Species with no ortholog for DMRT2:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for DMRT2 Gene

ENSEMBL:
Gene Tree for DMRT2 (if available)
TreeFam:
Gene Tree for DMRT2 (if available)

Paralogs for DMRT2 Gene

Paralogs for DMRT2 Gene

(5) SIMAP similar genes for DMRT2 Gene using alignment to 2 proteins:

genes like me logo Genes that share paralogs with DMRT2: view

Variants for DMRT2 Gene

Sequence variations from dbSNP and Humsavar for DMRT2 Gene

SNP ID Clin Chr 09 pos Sequence Context AA Info Type
rs3824419 - 1,056,728(-) TCGTG(C/G)TCCCT reference, missense, utr-variant-3-prime
rs17641078 - 1,056,959(+) GCAAA(C/G)AAAAC reference, missense, utr-variant-3-prime
rs659817 -- 1,021,899(-) ATTTT(C/T)CCTAT intron-variant
rs756145 -- 1,039,939(+) AAGTT(A/G)AGTGT intron-variant
rs756347 -- 1,040,081(+) CTTAG(G/T)CTGGG intron-variant

Structural Variations from Database of Genomic Variants (DGV) for DMRT2 Gene

Variant ID Type Subtype PubMed ID
nsv891954 CNV Loss 21882294
nsv892010 CNV Gain 21882294
dgv2273e1 CNV Complex 17122850
dgv8005n71 CNV Gain 21882294

Variation tolerance for DMRT2 Gene

Residual Variation Intolerance Score: 70.2% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 9.33; 88.34% of all genes are more intolerant (likely to be disease-causing)

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot and Relevant External Links for DMRT2 Gene

Disorders for DMRT2 Gene

Relevant External Links for DMRT2

Genetic Association Database (GAD)
DMRT2
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
DMRT2

No disorders were found for DMRT2 Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for DMRT2 Gene

Publications for DMRT2 Gene

  1. A region of human chromosome 9p required for testis development contains two genes related to known sexual regulators. (PMID: 10332030) Raymond C.S. … Zarkower D. (Hum. Mol. Genet. 1999) 2 3 4 67
  2. A new submicroscopic deletion that refines the 9p region for sex reversal. (PMID: 10857744) Calvari V. … Guioli S. (Genomics 2000) 3 23
  3. Wnt signaling and Dupuytren's disease. (PMID: 21732829) Dolmans G.H. … . (N. Engl. J. Med. 2011) 3
  4. The 9p24.3 breakpoint of a constitutional t(6;9)(p12;p24) in a patient with chronic lymphocytic leukemia maps close to the putative promoter region of the DMRT2 gene. (PMID: 19729909) RA1ssel J. … Hansmann I. (Cytogenet. Genome Res. 2009) 23
  5. Genome-wide association scan of quantitative traits for attention deficit hyperactivity disorder identifies novel associations and confirms candidate gene associations. (PMID: 18821565) Lasky-Su J. … Faraone S.V. (Am. J. Med. Genet. B Neuropsychiatr. Genet. 2008) 3

Products for DMRT2 Gene

Sources for DMRT2 Gene

Content