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Aliases for DMRTA2 Gene

Aliases for DMRTA2 Gene

  • DMRT Like Family A2 2 3 5
  • Doublesex- And Mab-3-Related Transcription Factor 5 3 4
  • Doublesex- And Mab-3-Related Transcription Factor A2 3
  • DMRT-Like Family A2 2
  • DMRT5 4

External Ids for DMRTA2 Gene

Previous GeneCards Identifiers for DMRTA2 Gene

  • GC01M050508
  • GC01M049773
  • GC01M050242
  • GC01M050254
  • GC01M050243
  • GC01M050596
  • GC01M050656
  • GC01M050883
  • GC01M049001

Summaries for DMRTA2 Gene

GeneCards Summary for DMRTA2 Gene

DMRTA2 (DMRT Like Family A2) is a Protein Coding gene. 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 DMRTA1.

UniProtKB/Swiss-Prot for DMRTA2 Gene

  • May be involved in sexual development.

Additional gene information for DMRTA2 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 DMRTA2 Gene

Genomics for DMRTA2 Gene

GeneHancer (GH) Regulatory Elements for DMRTA2 Gene

Promoters and enhancers for DMRTA2 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
GH01J050966 Promoter/Enhancer 2.3 EPDnew Ensembl ENCODE dbSUPER 5 -546.4 -546431 6.3 PKNOX1 FOXA2 ARNT ZFP64 ARID4B SIN3A FEZF1 DMAP1 ZNF2 YY1 CDKN2C ENSG00000266993 DMRTA2 GC01M050995 GC01M050992
GH01J050699 Enhancer 1.7 VISTA UCNEbase ENCODE dbSUPER 4.7 -276.8 -276819 1.6 MZF1 FEZF1 ZIC2 POLR2A ZSCAN5C TCF7L2 EZH2 NANOG ZNF843 SP1 DMRTA2 CDKN2C GC01M050693 GC01M050672 FAF1
GH01J050975 Enhancer 1.5 Ensembl ENCODE dbSUPER 5.2 -554.5 -554521 5.2 HDGF PKNOX1 ZFP64 ARID4B SIN3A DMAP1 ZNF2 YY1 POLR2B ZNF766 ENSG00000266993 DMRTA2 CDKN2C GC01M050995 GC01M050992
GH01J050393 Enhancer 0.3 ENCODE 15.5 +29.5 29460 0.8 NANOG DMRTA2 HMGB1P45 GC01M050274
GH01J050984 Enhancer 0.7 dbSUPER 5 -561.9 -561867 1.6 MEIS2 PKNOX1 KLF17 ZNF335 CTBP1 POLR2A ZNF366 ZBTB48 SRF SP3 CDKN2C FAF1 EPS15 DMRTA2 GC01M050995 GC01M050992
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around DMRTA2 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the DMRTA2 gene promoter:
  • Max1
  • Ik-2
  • CP2
  • N-Myc
  • Pax-5
  • SREBP-1c
  • c-Myb
  • USF-1
  • USF1
  • SREBP-1a

Genomic Locations for DMRTA2 Gene

Genomic Locations for DMRTA2 Gene
chr1:50,417,550-50,423,500
(GRCh38/hg38)
Size:
5,951 bases
Orientation:
Minus strand
chr1:50,883,222-50,889,172
(GRCh37/hg19)
Size:
5,951 bases
Orientation:
Minus strand

Genomic View for DMRTA2 Gene

Genes around DMRTA2 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
DMRTA2 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for DMRTA2 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for DMRTA2 Gene

Proteins for DMRTA2 Gene

  • Protein details for DMRTA2 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q96SC8-DMTA2_HUMAN
    Recommended name:
    Doublesex- and mab-3-related transcription factor A2
    Protein Accession:
    Q96SC8
    Secondary Accessions:
    • Q5TFQ3

    Protein attributes for DMRTA2 Gene

    Size:
    542 amino acids
    Molecular mass:
    53356 Da
    Quaternary structure:
    No Data Available

neXtProt entry for DMRTA2 Gene

Post-translational modifications for DMRTA2 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for DMRTA2 Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for DMRTA2 Gene

Domains & Families for DMRTA2 Gene

Gene Families for DMRTA2 Gene

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

Protein Domains for DMRTA2 Gene

Suggested Antigen Peptide Sequences for DMRTA2 Gene

Graphical View of Domain Structure for InterPro Entry

Q96SC8

UniProtKB/Swiss-Prot:

DMTA2_HUMAN :
  • Belongs to the DMRT family.
Family:
  • Belongs to the DMRT family.
genes like me logo Genes that share domains with DMRTA2: view

Function for DMRTA2 Gene

Molecular function for DMRTA2 Gene

UniProtKB/Swiss-Prot Function:
May be involved in sexual development.

Phenotypes From GWAS Catalog for DMRTA2 Gene

Gene Ontology (GO) - Molecular Function for DMRTA2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000981 RNA polymerase II transcription factor activity, sequence-specific DNA binding ISM 19274049
GO:0003677 DNA binding IEA --
GO:0003700 DNA binding transcription factor activity IEA,IBA --
GO:0005515 protein binding IEA --
GO:0042803 protein homodimerization activity IEA --
genes like me logo Genes that share ontologies with DMRTA2: view
genes like me logo Genes that share phenotypes with DMRTA2: view

Animal Models for DMRTA2 Gene

MGI Knock Outs for DMRTA2:

Animal Model Products

miRNA for DMRTA2 Gene

miRTarBase miRNAs that target DMRTA2

Clone Products

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for DMRTA2 Gene

Localization for DMRTA2 Gene

Subcellular locations from UniProtKB/Swiss-Prot for DMRTA2 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 DMRTA2 gene
Compartment Confidence
nucleus 4
plasma membrane 1
extracellular 1
mitochondrion 1
peroxisome 1
endoplasmic reticulum 1
cytosol 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Mitochondria (2)
  • Nucleoplasm (2)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for DMRTA2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IEA --
genes like me logo Genes that share ontologies with DMRTA2: view

Pathways & Interactions for DMRTA2 Gene

SuperPathways for DMRTA2 Gene

No Data Available

Interacting Proteins for DMRTA2 Gene

Gene Ontology (GO) - Biological Process for DMRTA2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0002052 positive regulation of neuroblast proliferation IEA --
GO:0006355 regulation of transcription, DNA-templated IEA --
GO:0006357 regulation of transcription by RNA polymerase II IEA --
GO:0007420 brain development IBA --
GO:0007548 sex differentiation IBA --
genes like me logo Genes that share ontologies with DMRTA2: view

No data available for Pathways by source and SIGNOR curated interactions for DMRTA2 Gene

Drugs & Compounds for DMRTA2 Gene

No Compound Related Data Available

Transcripts for DMRTA2 Gene

mRNA/cDNA for DMRTA2 Gene

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

Unigene Clusters for DMRTA2 Gene

DMRT-like family A2:
Representative Sequences:

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for DMRTA2 Gene

No ASD Table

Relevant External Links for DMRTA2 Gene

GeneLoc Exon Structure for
DMRTA2
ECgene alternative splicing isoforms for
DMRTA2

Expression for DMRTA2 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for DMRTA2 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for DMRTA2 Gene

This gene is overexpressed in Pituitary (x13.9), Testis (x11.3), Esophagus - Mucosa (x8.2), and Brain - Spinal cord (cervical c-1) (x4.5).

Protein differential expression in normal tissues from HIPED for DMRTA2 Gene

This gene is overexpressed in Brain (69.0).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for DMRTA2 Gene



Protein tissue co-expression partners for DMRTA2 Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of DMRTA2 Gene:

DMRTA2

SOURCE GeneReport for Unigene cluster for DMRTA2 Gene:

Hs.334481

mRNA Expression by UniProt/SwissProt for DMRTA2 Gene:

Q96SC8-DMTA2_HUMAN
Tissue specificity: Expressed in testis.
genes like me logo Genes that share expression patterns with DMRTA2: view

No data available for Evidence on tissue expression from TISSUES and Phenotype-based relationships between genes and organs from Gene ORGANizer for DMRTA2 Gene

Orthologs for DMRTA2 Gene

This gene was present in the common ancestor of animals.

Orthologs for DMRTA2 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia DMRTA2 34 33
  • 99.57 (n)
OneToOne
dog
(Canis familiaris)
Mammalia DMRTA2 34
  • 92 (a)
OneToOne
cow
(Bos Taurus)
Mammalia DMRTA2 34 33
  • 89.97 (n)
OneToOne
mouse
(Mus musculus)
Mammalia Dmrta2 16 34 33
  • 86.88 (n)
oppossum
(Monodelphis domestica)
Mammalia DMRTA2 34
  • 79 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia DMRTA2 34
  • 65 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia dmrta2 33
  • 67.39 (n)
Str.14215 33
zebrafish
(Danio rerio)
Actinopterygii dmrta2 34 33
  • 67.57 (n)
OneToOne
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.4887 33
fruit fly
(Drosophila melanogaster)
Insecta dmrt99B 34
  • 30 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea dmd-5 34
  • 35 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea -- 34
  • 30 (a)
OneToMany
Species where no ortholog for DMRTA2 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)
  • chicken (Gallus gallus)
  • 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)
  • platypus (Ornithorhynchus anatinus)
  • rat (Rattus norvegicus)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • 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 DMRTA2 Gene

ENSEMBL:
Gene Tree for DMRTA2 (if available)
TreeFam:
Gene Tree for DMRTA2 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for DMRTA2: view image

Paralogs for DMRTA2 Gene

Paralogs for DMRTA2 Gene

(2) SIMAP similar genes for DMRTA2 Gene using alignment to 3 proteins:

  • DMTA2_HUMAN
  • B7ZLH1_HUMAN
  • B9EG80_HUMAN
genes like me logo Genes that share paralogs with DMRTA2: view

Variants for DMRTA2 Gene

Sequence variations from dbSNP and Humsavar for DMRTA2 Gene

SNP ID Clin Chr 01 pos Variation AA Info Type
rs1000251183 -- 50,421,771(-) G/T 5_prime_UTR_variant, intron_variant
rs1000429618 -- 50,418,015(-) ATAGAT/AT 3_prime_UTR_variant
rs1000641211 -- 50,421,379(-) C/T coding_sequence_variant, missense_variant
rs1000706353 -- 50,422,245(-) G/A 5_prime_UTR_variant, intron_variant
rs1000901871 -- 50,422,632(-) CC/CCC 5_prime_UTR_variant, intron_variant

Structural Variations from Database of Genomic Variants (DGV) for DMRTA2 Gene

Variant ID Type Subtype PubMed ID
nsv950717 CNV deletion 24416366

Variation tolerance for DMRTA2 Gene

Gene Damage Index Score: 1.77; 33.45% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for DMRTA2 Gene

Human Gene Mutation Database (HGMD)
DMRTA2
SNPedia medical, phenotypic, and genealogical associations of SNPs for
DMRTA2

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for DMRTA2 Gene

Disorders for DMRTA2 Gene

Additional Disease Information for DMRTA2

No disorders were found for DMRTA2 Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for DMRTA2 Gene

Publications for DMRTA2 Gene

  1. 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) 2 3 4 58
  2. DMRTA2 (DMRT5) is mutated in a novel cortical brain malformation. (PMID: 26757254) Urquhart JE … Newman WG (Clinical genetics 2016) 3 58
  3. Involvement of doublesex and mab-3-related transcription factors in human female germ cell development demonstrated by xenograft and interference RNA strategies. (PMID: 25082981) Poulain M … Livera G (Molecular human reproduction 2014) 3 58
  4. A census of human transcription factors: function, expression and evolution. (PMID: 19274049) Vaquerizas JM … Luscombe NM (Nature reviews. Genetics 2009) 3 58
  5. The DNA sequence and biological annotation of human chromosome 1. (PMID: 16710414) Gregory SG … Prigmore E (Nature 2006) 4 58

Products for DMRTA2 Gene

Sources for DMRTA2 Gene

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