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Aliases for DMRT2 Gene

Aliases for DMRT2 Gene

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

External Ids for DMRT2 Gene

Previous GeneCards Identifiers for DMRT2 Gene

  • GC09P001216
  • GC09P001031
  • GC09P001040
  • GC09P001003

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. Diseases associated with DMRT2 include swyer syndrome. GO annotations related to this gene include sequence-specific DNA binding transcription factor activity 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

Epigenetics Products

  • DNA Methylation CpG Assay Predesigned for Pyrosequencing in human,mouse,rat

Genomic Location for DMRT2 Gene

Start:
1,046,757 bp from pter
End:
1,057,554 bp from pter
Size:
10,798 bases
Orientation:
Plus strand

Genomic View for DMRT2 Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
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

Other Protein References for DMRT2 Gene

No data available for DME Specific Peptides for DMRT2 Gene

Domains 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 :
  • Q9Y5R5
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:0000987 core promoter proximal region sequence-specific DNA binding IBA --
GO:0003674 molecular_function ND --
GO:0003700 sequence-specific DNA binding transcription factor activity IEA --
GO:0042803 protein homodimerization activity IBA --
GO:0043565 sequence-specific DNA binding --
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

CRISPR Products

miRNA for DMRT2 Gene

miRTarBase miRNAs that target DMRT2

No data available for Enzyme Numbers (IUBMB) , Transcription Factor Targeting 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 3
cytosol 2

Gene Ontology (GO) - Cellular Components for DMRT2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005575 cellular_component ND --
GO:0005634 nucleus IBA --
genes like me logo Genes that share ontologies with DMRT2: view

Pathways 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:0006351 transcription, DNA-templated IEA --
GO:0006355 regulation of transcription, DNA-templated IEA --
GO:0008150 biological_process ND --
GO:0014807 regulation of somitogenesis IBA --
GO:0048706 embryonic skeletal system development IEA --
genes like me logo Genes that share ontologies with DMRT2: view

No data available for Pathways by source for DMRT2 Gene

Transcripts for DMRT2 Gene

Unigene Clusters for DMRT2 Gene

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

CRISPR Products

miRNA Products

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for DMRT2

Primer Products

  • OriGene qSTAR qPCR primer pairs in human,mouse,rat for DMRT2

Flow Cytometry Products

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 (22.1).

Integrated Proteomics: protein expression 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 expressions with DMRT2: view

In Situ Assay 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
chimpanzee
(Pan troglodytes)
Mammalia DMRT2 35
  • 97.86 (n)
  • 96.79 (a)
DMRT2 36
  • 97 (a)
OneToOne
cow
(Bos Taurus)
Mammalia DMRT2 35
  • 88.65 (n)
  • 87.28 (a)
DMRT2 36
  • 88 (a)
OneToOne
dog
(Canis familiaris)
Mammalia DMRT2 36
  • 91 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Dmrt2 35
  • 83.9 (n)
  • 83.78 (a)
Dmrt2 16
Dmrt2 36
  • 84 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia DMRT2 36
  • 73 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia DMRT2 36
  • 79 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Dmrt2 35
  • 82.67 (n)
  • 82.37 (a)
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)
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.11633 35
zebrafish
(Danio rerio)
Actinopterygii dmrt2 35
dmrt2a 35
  • 61.81 (n)
  • 61.66 (a)
dmrt2a 36
  • 56 (a)
OneToOne
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

Selected 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 MAF
rs9140 -- 1,057,318(+) AGAGC(A/G)TTATA utr-variant-3-prime
rs521525 -- 1,056,787(+) GAAGG(C/T)TCCCT utr-variant-3-prime, synonymous-codon, reference
rs594879 -- 1,045,178(-) aaaaa(A/C)ccaaa upstream-variant-2KB
rs869938 -- 1,053,308(+) TCACA(A/G)CAGGC intron-variant
rs869939 -- 1,053,465(+) TATCT(A/C)GAGTG 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

Relevant External Links for DMRT2 Gene

HapMap Linkage Disequilibrium report
DMRT2

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for DMRT2 Gene

Disorders for DMRT2 Gene

MalaCards: The human disease database

MalaCards: The human disease database. (1) Diseases for DMRT2 Gene including...

Search for DMRT2 Gene in MalaCards »

Relevant External Links for DMRT2

Genetic Association Database (GAD)
DMRT2
genes like me logo Genes that share disorders with DMRT2: view

No data available for UniProtKB/Swiss-Prot 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
  2. A new submicroscopic deletion that refines the 9p region for sex reversal. (PMID: 10857744) Calvari V. … Guioli S. (Genomics 2000) 3 4 23
  3. The human doublesex-related gene, DMRT2, is homologous to a gene involved in somitogenesis and encodes a potential bicistronic transcript. (PMID: 10729224) Ottolenghi C. … McElreavey K. (Genomics 2000) 3 4
  4. 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 48
  5. TLR8-dependent TNF-(alpha) overexpression in Fanconi anemia group C cells. (PMID: 19850743) Vanderwerf S.M. … Bagby G.C. (Blood 2009) 3

Products for DMRT2 Gene

Sources for DMRT2 Gene

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