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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
  • 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
  • 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. Diseases associated with DMRT2 include 46 Xy Gonadal Dysgenesis. Gene Ontology (GO) annotations related to this gene include 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).

Additional gene information for DMRT2 Gene

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

Genomics for DMRT2 Gene

GeneHancer (GH) Regulatory Elements for DMRT2 Gene

Promoters and enhancers for DMRT2 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH09J001049 Promoter/Enhancer 1.3 EPDnew ENCODE 666.5 +47.4 47397 2.3 PKNOX1 RB1 NFIB NEUROD1 NFXL1 RFX5 EGR1 HCFC1 NFYC ELF1 DMRT2 LINC01230 GC09P001094
GH09J001031 Enhancer 0.6 ENCODE 19.7 +29.0 29043 1.4 GLIS1 OVOL3 ZNF24 FEZF1 ZIC2 ZNF843 WT1 ZBTB17 DMRT2 DMRT1 LINC01230 ENSG00000228783
GH09J001101 Enhancer 0.6 ENCODE 10.4 +97.9 97904 0.1 ZFP69B CTCF ZNF654 ZNF692 TRIM22 ELF1 MLLT1 RAD21 DMRT2 GC09P001094 ENSG00000224836
GH09J001046 Enhancer 0.6 Ensembl ENCODE 9.6 +44.0 44005 2.8 ZNF687 NBN ZBTB33 LINC01230 DMRT2 GC09P001094
GH09J001083 Enhancer 0.5 ENCODE 11.4 +80.4 80437 0.2 PKNOX1 PRDM6 RFX1 NRF1 FEZF1 DMRT2 GC09P001094 LINC01230
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around DMRT2 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the DMRT2 gene promoter:
  • Meis-1b
  • Meis-1
  • HOXA9B
  • HOXA9
  • Nkx2-5
  • POU3F2
  • POU3F2 (N-Oct-5a)
  • POU3F2 (N-Oct-5b)
  • Pax-3
  • POU2F1

Genomic Locations for DMRT2 Gene

Genomic Locations for DMRT2 Gene
chr9:1,003,242-1,057,554
(GRCh38/hg38)
Size:
54,313 bases
Orientation:
Plus strand
chr9:1,050,346-1,057,554
(GRCh37/hg19)
Size:
7,209 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

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

Gene Families for DMRT2 Gene

Human Protein Atlas (HPA):
  • Predicted intracellular proteins
  • Predicted membrane proteins
  • Transcription factors

Protein Domains for DMRT2 Gene

Graphical View of Domain Structure for InterPro Entry

Q9Y5R5

UniProtKB/Swiss-Prot:

DMRT2_HUMAN :
  • Belongs to the DMRT family.
Family:
  • Belongs to the DMRT family.
genes like me logo Genes that share domains with DMRT2: view

Function for DMRT2 Gene

Molecular function for DMRT2 Gene

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).
GENATLAS Biochemistry:
double sex (Drosophila) and MAB-3 (C elegans) related transcription factor 2,specifically expressed in the testis,involved in testis development

Phenotypes From GWAS Catalog for DMRT2 Gene

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:0000981 RNA polymerase II transcription factor activity, sequence-specific DNA binding NAS 19274049
GO:0003674 molecular_function ND --
GO:0003677 DNA binding IEA --
GO:0003700 DNA binding transcription factor activity IEA,IBA --
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

Clone 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
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for DMRT2 gene
Compartment Confidence
nucleus 5
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 IEA --
GO:0016020 membrane IEA --
GO:0016021 integral component of membrane IEA --
genes like me logo Genes that share ontologies with DMRT2: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for DMRT2 Gene

Pathways & Interactions for DMRT2 Gene

SuperPathways for DMRT2 Gene

No Data Available

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:0007548 sex differentiation IBA --
GO:0008150 biological_process ND --
GO:0014807 regulation of somitogenesis 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:

Clone 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 from GTEx, Illumina, BioGPS, and CGAP SAGE 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 and MOPED for DMRT2 Gene



Protein tissue co-expression partners for DMRT2 Gene

NURSA nuclear receptor signaling pathways regulating expression of DMRT2 Gene:

DMRT2

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.

Evidence on tissue expression from TISSUES for DMRT2 Gene

  • Kidney(4.2)
genes like me logo Genes that share expression patterns with DMRT2: view

No data available for Phenotype-based relationships between genes and organs from Gene ORGANizer for DMRT2 Gene

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 34 33
  • 97.86 (n)
OneToOne
dog
(Canis familiaris)
Mammalia DMRT2 34
  • 91 (a)
OneToOne
cow
(Bos Taurus)
Mammalia DMRT2 34 33
  • 88.65 (n)
OneToOne
mouse
(Mus musculus)
Mammalia Dmrt2 16 34 33
  • 83.9 (n)
rat
(Rattus norvegicus)
Mammalia Dmrt2 33
  • 82.67 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia DMRT2 34
  • 79 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia DMRT2 34
  • 73 (a)
OneToOne
chicken
(Gallus gallus)
Aves DMRT2 34 33
  • 75.25 (n)
OneToOne
lizard
(Anolis carolinensis)
Reptilia DMRT2 34
  • 66 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia dmrt2 33
  • 66.33 (n)
zebrafish
(Danio rerio)
Actinopterygii dmrt2a 34 33
  • 61.81 (n)
OneToOne
dmrt2 33
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.11633 33
fruit fly
(Drosophila melanogaster)
Insecta dmrt11E 34
  • 23 (a)
OneToOne
worm
(Caenorhabditis elegans)
Secernentea dmd-3 34
  • 24 (a)
ManyToMany
Species where no ortholog for DMRT2 was found in the sources mined by GeneCards:
  • 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)
Aminode:
Evolutionary constrained regions (ECRs) for DMRT2: view image

Paralogs for DMRT2 Gene

Paralogs for DMRT2 Gene

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

  • DMRT2_HUMAN
  • Q05C20_HUMAN
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 Variation AA Info Type
rs1000029198 -- 1,052,153(+) G/A/C genic_upstream_transcript_variant, intron_variant, upstream_transcript_variant
rs1000040126 -- 1,037,201(+) G/A/C genic_upstream_transcript_variant, intron_variant
rs1000090486 -- 1,025,252(+) T/G genic_upstream_transcript_variant, intron_variant
rs1000092979 -- 1,046,329(+) G/T genic_upstream_transcript_variant, intron_variant, upstream_transcript_variant
rs1000107485 -- 1,007,076(+) A/G genic_upstream_transcript_variant, intron_variant

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

Variant ID Type Subtype PubMed ID
esv2759656 CNV loss 17122850
esv3891516 CNV gain 25118596
nsv1025752 CNV gain 25217958
nsv613037 CNV gain 21841781

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)

Additional Variant Information for DMRT2 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
DMRT2

SNP Genotyping and Copy Number Assay Products

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

Disorders for DMRT2 Gene

MalaCards: The human disease database

(1) MalaCards diseases for DMRT2 Gene - From: DISEASES

Disorder Aliases PubMed IDs
46 xy gonadal dysgenesis
  • 46,xy sex reversal
- elite association - COSMIC cancer census association via MalaCards
Search DMRT2 in MalaCards View complete list of genes associated with diseases

Additional Disease Information for DMRT2

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

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

Publications for DMRT2 Gene

  1. A new submicroscopic deletion that refines the 9p region for sex reversal. (PMID: 10857744) Calvari V … Guioli S (Genomics 2000) 3 4 22 58
  2. A region of human chromosome 9p required for testis development contains two genes related to known sexual regulators. (PMID: 10332030) Raymond CS … Zarkower D (Human molecular genetics 1999) 2 3 4 58
  3. 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 SV (American journal of medical genetics. Part B, Neuropsychiatric genetics : the official publication of the International Society of Psychiatric Genetics 2008) 3 44 58
  4. 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 58
  5. Heat shock factor 1 promotes TERRA transcription and telomere protection upon heat stress. (PMID: 28369628) Koskas S … Faure V (Nucleic acids research 2017) 3 58

Products for DMRT2 Gene

Sources for DMRT2 Gene

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