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Aliases for DMRT3 Gene

Aliases for DMRT3 Gene

  • Doublesex And Mab-3 Related Transcription Factor 3 2 3 5
  • Testis-Specific Protein 2 3
  • DMRT-Like Family A3 2 3
  • DMRTA3 3 4
  • Doublesex- And Mab-3-Related Transcription Factor 3 3

External Ids for DMRT3 Gene

Previous HGNC Symbols for DMRT3 Gene

  • DMRTA3

Previous GeneCards Identifiers for DMRT3 Gene

  • GC09P001143
  • GC09P000958
  • GC09P000967
  • GC09P000966

Summaries for DMRT3 Gene

GeneCards Summary for DMRT3 Gene

DMRT3 (Doublesex And Mab-3 Related Transcription Factor 3) is a Protein Coding gene. Diseases associated with DMRT3 include 46,Xy Partial Gonadal Dysgenesis. 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 DMRT3 Gene

  • Probable transcription factor that plays a role in configuring the spinal circuits controlling stride in vertebrates. Involved in neuronal specification within specific subdivision of spinal cord neurons and in the development of a coordinated locomotor network controlling limb movements. May regulate transcription during sexual development (By similarity).

Additional gene information for DMRT3 Gene

No data available for Entrez Gene Summary , CIViC summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for DMRT3 Gene

Genomics for DMRT3 Gene

Regulatory Elements for DMRT3 Gene

Enhancers for DMRT3 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH09H000973 0.5 ENCODE 6.6 -4.5 -4509 0 SUZ12 KLF9 CTBP2 EZH2 DMRT3 ENSG00000226403 PIR36801 PIR33633
GH09H000908 0.4 ENCODE 7.2 -68.0 -67960 1 ETS1 DMRT3 GC09P000927 DMRT1
GH09H000977 0.8 ENCODE 0.7 -0.6 -649 0 ZNF76 KLF17 GLIS2 ZNF366 SP3 ZEB2 ZNF398 ZNF610 KLF16 ZNF341 DMRT3 GC09P000982
GH09H000976 0.7 ENCODE 0.7 -0.2 -249 0 ZNF76 KLF17 HIC1 ZFHX2 ZNF366 KLF8 EZH2 MAZ SP2 ZBTB8A ENSG00000226403 GC09P000982 DMRT3
GH09H000994 0.7 ENCODE 0.4 +18.8 18770 1 SMARCE1 NFIB GFI1B DPF2 FOXA1 ZNF217 CTBP1 GATA3 MTA1 FOSL2 PIR35120 DMRT3
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around DMRT3 on UCSC Golden Path with GeneCards custom track

Genomic Location for DMRT3 Gene

Chromosome:
9
Start:
976,964 bp from pter
End:
991,736 bp from pter
Size:
14,773 bases
Orientation:
Plus strand

Genomic View for DMRT3 Gene

Genes around DMRT3 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
DMRT3 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for DMRT3 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for DMRT3 Gene

Proteins for DMRT3 Gene

  • Protein details for DMRT3 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9NQL9-DMRT3_HUMAN
    Recommended name:
    Doublesex- and mab-3-related transcription factor 3
    Protein Accession:
    Q9NQL9
    Secondary Accessions:
    • Q7LA03
    • Q7LCH8
    • Q96SC7
    • Q9NRQ9

    Protein attributes for DMRT3 Gene

    Size:
    472 amino acids
    Molecular mass:
    51199 Da
    Quaternary structure:
    No Data Available
    Miscellaneous:
    • DMRT3 is a marker for a subset of spinal cord neurons (dI6).

neXtProt entry for DMRT3 Gene

Post-translational modifications for DMRT3 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for DMRT3 Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for DMRT3 Gene

Domains & Families for DMRT3 Gene

Gene Families for DMRT3 Gene

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

Protein Domains for DMRT3 Gene

Suggested Antigen Peptide Sequences for DMRT3 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q9NQL9

UniProtKB/Swiss-Prot:

DMRT3_HUMAN :
  • Belongs to the DMRT family.
Family:
  • Belongs to the DMRT family.
genes like me logo Genes that share domains with DMRT3: view

Function for DMRT3 Gene

Molecular function for DMRT3 Gene

UniProtKB/Swiss-Prot Function:
Probable transcription factor that plays a role in configuring the spinal circuits controlling stride in vertebrates. Involved in neuronal specification within specific subdivision of spinal cord neurons and in the development of a coordinated locomotor network controlling limb movements. May regulate transcription during sexual development (By similarity).

Phenotypes From GWAS Catalog for DMRT3 Gene

Gene Ontology (GO) - Molecular Function for DMRT3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003700 transcription factor activity, sequence-specific DNA binding IEA --
GO:0005515 protein binding IPI 25416956
GO:0043565 sequence-specific DNA binding IEA --
GO:0046872 metal ion binding IEA --
GO:0046982 protein heterodimerization activity IEA --
genes like me logo Genes that share ontologies with DMRT3: view
genes like me logo Genes that share phenotypes with DMRT3: view

Animal Models for DMRT3 Gene

MGI Knock Outs for DMRT3:

Animal Model Products

CRISPR Products

miRNA for DMRT3 Gene

miRTarBase miRNAs that target DMRT3

Inhibitory RNA Products

Clone Products

  • Applied Biological Materials Clones for DMRT3
  • Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for DMRT3 Gene

Localization for DMRT3 Gene

Subcellular locations from UniProtKB/Swiss-Prot for DMRT3 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 DMRT3 gene
Compartment Confidence
nucleus 4
cytosol 2
mitochondrion 1
peroxisome 1

Gene Ontology (GO) - Cellular Components for DMRT3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IEA --
genes like me logo Genes that share ontologies with DMRT3: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for DMRT3 Gene

Pathways & Interactions for DMRT3 Gene

SuperPathways for DMRT3 Gene

No Data Available

Gene Ontology (GO) - Biological Process for DMRT3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006351 transcription, DNA-templated IEA --
GO:0006355 regulation of transcription, DNA-templated IEA --
GO:0007275 multicellular organism development IEA --
GO:0007548 sex differentiation NAS 10729223
GO:0007628 adult walking behavior IEA --
genes like me logo Genes that share ontologies with DMRT3: view

No data available for Pathways by source and SIGNOR curated interactions for DMRT3 Gene

Drugs & Compounds for DMRT3 Gene

No Compound Related Data Available

Transcripts for DMRT3 Gene

mRNA/cDNA for DMRT3 Gene

(1) REFSEQ mRNAs :
(5) Additional mRNA sequences :
(13) Selected AceView cDNA sequences:
(2) Ensembl transcripts including schematic representations, and UCSC links where relevant :

Unigene Clusters for DMRT3 Gene

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

CRISPR Products

Inhibitory RNA Products

Clone Products

  • Applied Biological Materials Clones for DMRT3
  • Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more

Alternative Splicing Database (ASD) splice patterns (SP) for DMRT3 Gene

No ASD Table

Relevant External Links for DMRT3 Gene

GeneLoc Exon Structure for
DMRT3
ECgene alternative splicing isoforms for
DMRT3

Expression for DMRT3 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for DMRT3 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for DMRT3 Gene

This gene is overexpressed in Testis (x15.0), Thyroid (x10.4), and Adipose - Subcutaneous (x5.8).

NURSA nuclear receptor signaling pathways regulating expression of DMRT3 Gene:

DMRT3

SOURCE GeneReport for Unigene cluster for DMRT3 Gene:

Hs.189174

mRNA Expression by UniProt/SwissProt for DMRT3 Gene:

Q9NQL9-DMRT3_HUMAN
Tissue specificity: Expressed in testis.

Evidence on tissue expression from TISSUES for DMRT3 Gene

  • Intestine(4)
  • Nervous system(2.7)
genes like me logo Genes that share expression patterns with DMRT3: view

Primer Products

No data available for Protein differential expression in normal tissues , Protein expression , Protein tissue co-expression partners and Phenotype-based relationships between genes and organs from Gene ORGANizer for DMRT3 Gene

Orthologs for DMRT3 Gene

This gene was present in the common ancestor of animals.

Orthologs for DMRT3 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia DMRT3 33 34
  • 96.54 (n)
cow
(Bos Taurus)
Mammalia DMRT3 34
  • 90 (a)
OneToOne
LOC506833 33
  • 88.25 (n)
oppossum
(Monodelphis domestica)
Mammalia DMRT3 34
  • 87 (a)
OneToOne
dog
(Canis familiaris)
Mammalia DMRT3 34
  • 86 (a)
OneToOne
LOC609208 33
  • 82.34 (n)
rat
(Rattus norvegicus)
Mammalia Dmrt3 33
  • 84.4 (n)
mouse
(Mus musculus)
Mammalia Dmrt3 33 16 34
  • 84.11 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia DMRT3 34
  • 84 (a)
OneToOne
chicken
(Gallus gallus)
Aves DMRT3 33 34
  • 81.44 (n)
lizard
(Anolis carolinensis)
Reptilia DMRT3 34
  • 79 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia dmrt3 33
  • 71.05 (n)
zebrafish
(Danio rerio)
Actinopterygii dmrt3a 33 34
  • 66.06 (n)
fruit fly
(Drosophila melanogaster)
Insecta dmrt93B 34
  • 25 (a)
OneToOne
worm
(Caenorhabditis elegans)
Secernentea dmd-4 34
  • 31 (a)
OneToMany
dmd-11 34
  • 25 (a)
OneToMany
Species where no ortholog for DMRT3 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)
  • rainbow trout (Oncorhynchus mykiss)
  • 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 DMRT3 Gene

ENSEMBL:
Gene Tree for DMRT3 (if available)
TreeFam:
Gene Tree for DMRT3 (if available)

Paralogs for DMRT3 Gene

Paralogs for DMRT3 Gene

(1) SIMAP similar genes for DMRT3 Gene using alignment to 2 proteins:

genes like me logo Genes that share paralogs with DMRT3: view

Variants for DMRT3 Gene

Sequence variations from dbSNP and Humsavar for DMRT3 Gene

SNP ID Clin Chr 09 pos Sequence Context AA Info Type
rs1000030827 -- 985,106(+) CAGTT(A/T)ATTTC intron-variant
rs1000032325 -- 991,151(+) AAAAA(C/T)ATAAC utr-variant-3-prime
rs1000180887 -- 989,506(+) TGCAA(C/T)TTACT intron-variant
rs1000232200 -- 979,988(+) TATCT(A/G)CTGGC intron-variant
rs1000237282 -- 976,763(+) GGCAG(A/C)GGCCC upstream-variant-2KB

Structural Variations from Database of Genomic Variants (DGV) for DMRT3 Gene

Variant ID Type Subtype PubMed ID
dgv7371n100 CNV gain 25217958
esv3891516 CNV gain 25118596
nsv1075185 CNV deletion 25765185
nsv613037 CNV gain 21841781

Variation tolerance for DMRT3 Gene

Residual Variation Intolerance Score: 80.7% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 6.70; 78.60% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for DMRT3 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
DMRT3

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for DMRT3 Gene

Disorders for DMRT3 Gene

MalaCards: The human disease database

(1) MalaCards diseases for DMRT3 Gene - From: Orphanet

Disorder Aliases PubMed IDs
46,xy partial gonadal dysgenesis
  • 46,xy pgd
- elite association - COSMIC cancer census association via MalaCards
Search DMRT3 in MalaCards View complete list of genes associated with diseases

Relevant External Links for DMRT3

Genetic Association Database (GAD)
DMRT3
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
DMRT3
genes like me logo Genes that share disorders with DMRT3: view

No data available for UniProtKB/Swiss-Prot and Genatlas for DMRT3 Gene

Publications for DMRT3 Gene

  1. The region on 9p associated with 46,XY sex reversal contains several transcripts expressed in the urogenital system and a novel doublesex-related domain. (PMID: 10729223) Ottolenghi C … McElreavey K (Genomics 2000) 2 3 4 60
  2. DNA sequence and analysis of human chromosome 9. (PMID: 15164053) Humphray SJ … Dunham I (Nature 2004) 3 4 60
  3. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard DS … MGC Project Team (Genome research 2004) 3 4 60
  4. Novel paralogy relations among human chromosomes support a link between the phylogeny of doublesex-related genes and the evolution of sex determination. (PMID: 11863363) Ottolenghi C … McElreavey K (Genomics 2002) 3 4 60
  5. Genomic organization and expression of the doublesex-related gene cluster in vertebrates and detection of putative regulatory regions for DMRT1. (PMID: 11543627) Brunner B … Schartl M (Genomics 2001) 2 3 60

Products for DMRT3 Gene

Sources for DMRT3 Gene

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