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

Aliases for DACH2 Gene

Aliases for DACH2 Gene

  • Dachshund Family Transcription Factor 2 2 3 5
  • Dachshund Homolog 2 (Drosophila) 2
  • Dach2 4

External Ids for DACH2 Gene

Previous GeneCards Identifiers for DACH2 Gene

  • GC0XP080783
  • GC0XP082480
  • GC0XP083439
  • GC0XP084175
  • GC0XP085209
  • GC0XP085290
  • GC0XP085403
  • GC0XP078980

Summaries for DACH2 Gene

Entrez Gene Summary for DACH2 Gene

  • This gene is one of two genes which encode a protein similar to the Drosophila protein dachshund, a transcription factor involved in cell fate determination in the eye, limb and genital disc of the fly. The encoded protein contains two characteristic dachshund domains: an N-terminal domain responsible for DNA binding and a C-terminal domain responsible for protein-protein interactions. This gene is located on the X chromosome and is subject to inactivation by DNA methylation. The encoded protein may be involved in regulation of organogenesis and myogenesis, and may play a role in premature ovarian failure. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Nov 2008]

GeneCards Summary for DACH2 Gene

DACH2 (Dachshund Family Transcription Factor 2) is a Protein Coding gene. Diseases associated with DACH2 include Miles-Carpenter Syndrome and Allan-Herndon-Dudley Syndrome. An important paralog of this gene is DACH1.

UniProtKB/Swiss-Prot for DACH2 Gene

  • Transcription factor that is involved in regulation of organogenesis. Seems to be a regulator for SIX1 and SIX6. Seems to act as a corepressor of SIX6 in regulating proliferation by directly repressing cyclin-dependent kinase inhibitors, including the p27Kip1 promoter. Is recruited with SIX6 to the p27Kip1 promoter in embryonal retina. SIX6 corepression seems also to involve NCOR1, TBL1, HDAC1 and HDAC3. May be involved together with PAX3, SIX1, and EYA2 in regulation of myogenesis. In the developing somite, expression of DACH2 and PAX3 is regulated by the overlying ectoderm, and DACH2 and PAX3 positively regulate each others expression (By similarity). Probably binds to DNA via its DACHbox-N domain.

Additional gene information for DACH2 Gene

No data available for CIViC summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for DACH2 Gene

Genomics for DACH2 Gene

Regulatory Elements for DACH2 Gene

Enhancers for DACH2 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
GH0XH086149 0.3 FANTOM5 5.3 +1.4 1418 0 DACH2 EEF1A1P29
GH0XH086147 0.6 ENCODE 0.7 -0.2 -193 0 MXI1 PKNOX1 L3MBTL2 NFYC SP2 POLR2A KLF9 PRDM10 DACH2 TPMTP4
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around DACH2 on UCSC Golden Path with GeneCards custom track

Promoters for DACH2 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000247454 -150 1399 MXI1 PKNOX1 L3MBTL2 NFYC SP2 POLR2A KLF9 PRDM10

Genomic Location for DACH2 Gene

Chromosome:
X
Start:
86,148,451 bp from pter
End:
86,832,604 bp from pter
Size:
684,154 bases
Orientation:
Plus strand

Genomic View for DACH2 Gene

Genes around DACH2 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
DACH2 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for DACH2 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for DACH2 Gene

Proteins for DACH2 Gene

  • Protein details for DACH2 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q96NX9-DACH2_HUMAN
    Recommended name:
    Dachshund homolog 2
    Protein Accession:
    Q96NX9
    Secondary Accessions:
    • B1AJV3
    • B4DQG3
    • Q8NAY3
    • Q8ND17
    • Q96N55

    Protein attributes for DACH2 Gene

    Size:
    599 amino acids
    Molecular mass:
    65323 Da
    Quaternary structure:
    • Interacts with SIX6 and EYA2.

    Alternative splice isoforms for DACH2 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for DACH2 Gene

Post-translational modifications for DACH2 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

No data available for DME Specific Peptides for DACH2 Gene

Domains & Families for DACH2 Gene

Gene Families for DACH2 Gene

Human Protein Atlas (HPA):
  • Predicted intracellular proteins

Protein Domains for DACH2 Gene

Graphical View of Domain Structure for InterPro Entry

Q96NX9

UniProtKB/Swiss-Prot:

DACH2_HUMAN :
  • The DACHbox-N/DD1 domain forms a structure containing a DNA binding motif similar to that of the forkhead/winged helix domain.
  • Belongs to the DACH/dachshund family.
Domain:
  • The DACHbox-N/DD1 domain forms a structure containing a DNA binding motif similar to that of the forkhead/winged helix domain.
Family:
  • Belongs to the DACH/dachshund family.
genes like me logo Genes that share domains with DACH2: view

Function for DACH2 Gene

Molecular function for DACH2 Gene

UniProtKB/Swiss-Prot Function:
Transcription factor that is involved in regulation of organogenesis. Seems to be a regulator for SIX1 and SIX6. Seems to act as a corepressor of SIX6 in regulating proliferation by directly repressing cyclin-dependent kinase inhibitors, including the p27Kip1 promoter. Is recruited with SIX6 to the p27Kip1 promoter in embryonal retina. SIX6 corepression seems also to involve NCOR1, TBL1, HDAC1 and HDAC3. May be involved together with PAX3, SIX1, and EYA2 in regulation of myogenesis. In the developing somite, expression of DACH2 and PAX3 is regulated by the overlying ectoderm, and DACH2 and PAX3 positively regulate each others expression (By similarity). Probably binds to DNA via its DACHbox-N domain.

Phenotypes From GWAS Catalog for DACH2 Gene

Gene Ontology (GO) - Molecular Function for DACH2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001075 transcription factor activity, RNA polymerase II core promoter sequence-specific binding involved in preinitiation complex assembly IBA --
GO:0003677 DNA binding IEA --
genes like me logo Genes that share ontologies with DACH2: view
genes like me logo Genes that share phenotypes with DACH2: view

Animal Models for DACH2 Gene

MGI Knock Outs for DACH2:

Animal Model Products

CRISPR Products

Inhibitory RNA Products

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , miRNA , Transcription Factor Targets and HOMER Transcription for DACH2 Gene

Localization for DACH2 Gene

Subcellular locations from UniProtKB/Swiss-Prot for DACH2 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 DACH2 gene
Compartment Confidence
nucleus 4
cytosol 2
extracellular 1
mitochondrion 1
endoplasmic reticulum 1
lysosome 1

Gene Ontology (GO) - Cellular Components for DACH2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IBA --
GO:0005667 transcription factor complex IBA --
genes like me logo Genes that share ontologies with DACH2: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for DACH2 Gene

Pathways & Interactions for DACH2 Gene

SuperPathways for DACH2 Gene

No Data Available

Gene Ontology (GO) - Biological Process for DACH2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006351 transcription, DNA-templated IEA --
GO:0006355 regulation of transcription, DNA-templated IBA --
GO:0007275 multicellular organism development IBA --
GO:0046545 development of primary female sexual characteristics IEA --
GO:0051123 RNA polymerase II transcriptional preinitiation complex assembly IEA --
genes like me logo Genes that share ontologies with DACH2: view

No data available for Pathways by source and SIGNOR curated interactions for DACH2 Gene

Drugs & Compounds for DACH2 Gene

No Compound Related Data Available

Transcripts for DACH2 Gene

Unigene Clusters for DACH2 Gene

Dachshund homolog 2 (Drosophila):
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

Alternative Splicing Database (ASD) splice patterns (SP) for DACH2 Gene

ExUns: 1 ^ 2 ^ 3 ^ 4 ^ 5 ^ 6 ^ 7 ^ 8 ^ 9 ^ 10 ^ 11 ^ 12 ^ 13 ^ 14a · 14b
SP1: - -
SP2: - -
SP3: -

Relevant External Links for DACH2 Gene

GeneLoc Exon Structure for
DACH2
ECgene alternative splicing isoforms for
DACH2

Expression for DACH2 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for DACH2 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for DACH2 Gene

This gene is overexpressed in Brain - Nucleus accumbens (basal ganglia) (x6.9), Brain - Anterior cingulate cortex (BA24) (x6.1), Brain - Frontal Cortex (BA9) (x5.5), Brain - Hypothalamus (x5.1), Brain - Hippocampus (x4.7), Brain - Amygdala (x4.6), Brain - Putamen (basal ganglia) (x4.4), Brain - Caudate (basal ganglia) (x4.2), and Brain - Cortex (x4.1).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, and MOPED for DACH2 Gene



Protein tissue co-expression partners for DACH2 Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of DACH2 Gene:

DACH2

SOURCE GeneReport for Unigene cluster for DACH2 Gene:

Hs.86603

Evidence on tissue expression from TISSUES for DACH2 Gene

  • Nervous system(4.3)
  • Lung(4.2)
genes like me logo Genes that share expression patterns with DACH2: view

Primer Products

No data available for Protein differential expression in normal tissues , mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for DACH2 Gene

Orthologs for DACH2 Gene

This gene was present in the common ancestor of animals.

Orthologs for DACH2 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia DACH2 33 34
  • 99.45 (n)
cow
(Bos Taurus)
Mammalia DACH2 34
  • 92 (a)
OneToOne
dog
(Canis familiaris)
Mammalia DACH2 33 34
  • 91.15 (n)
mouse
(Mus musculus)
Mammalia Dach2 33 16 34
  • 90.37 (n)
rat
(Rattus norvegicus)
Mammalia Dach2 33
  • 89.51 (n)
oppossum
(Monodelphis domestica)
Mammalia -- 34
  • 75 (a)
OneToMany
-- 34
  • 63 (a)
OneToMany
platypus
(Ornithorhynchus anatinus)
Mammalia DACH2 34
  • 74 (a)
OneToOne
chicken
(Gallus gallus)
Aves DACH2 33 34
  • 77.78 (n)
lizard
(Anolis carolinensis)
Reptilia DACH2 34
  • 65 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia dach2 33
  • 73.31 (n)
zebrafish
(Danio rerio)
Actinopterygii dacha 33 34
  • 68.96 (n)
dachb 34
  • 53 (a)
OneToMany
fruit fly
(Drosophila melanogaster)
Insecta dac 35 34
  • 70 (a)
worm
(Caenorhabditis elegans)
Secernentea dac-1 34
  • 28 (a)
OneToMany
Species where no ortholog for DACH2 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 DACH2 Gene

ENSEMBL:
Gene Tree for DACH2 (if available)
TreeFam:
Gene Tree for DACH2 (if available)

Paralogs for DACH2 Gene

Paralogs for DACH2 Gene

(2) SIMAP similar genes for DACH2 Gene using alignment to 5 proteins:

genes like me logo Genes that share paralogs with DACH2: view

Variants for DACH2 Gene

Sequence variations from dbSNP and Humsavar for DACH2 Gene

SNP ID Clin Chr 0X pos Sequence Context AA Info Type
rs765715387 Benign 86,812,876(+) AAATT(C/T)CAATA reference, missense
rs1000001044 -- 86,453,676(+) TTTTT(G/T)TATTT intron-variant
rs1000001647 -- 86,504,807(+) TTGTG(A/T)CCTTG intron-variant
rs1000001842 -- 86,340,933(+) GCTTC(A/G)GAAGA intron-variant
rs1000008373 -- 86,530,438(+) CATGA(C/T)AGAGT intron-variant

Structural Variations from Database of Genomic Variants (DGV) for DACH2 Gene

Variant ID Type Subtype PubMed ID
dgv4262n106 CNV duplication 24896259
esv2164340 CNV deletion 18987734
esv2227206 CNV deletion 18987734
esv2538515 CNV deletion 19546169
esv2659577 CNV deletion 23128226
esv26654 CNV loss 19812545
esv2740276 CNV deletion 23290073
esv2740278 CNV deletion 23290073
esv2740279 CNV deletion 23290073
esv2740280 CNV deletion 23290073
esv3304249 CNV mobile element insertion 20981092
esv3309775 CNV mobile element insertion 20981092
esv3559053 CNV deletion 23714750
esv3559054 CNV deletion 23714750
esv3559056 CNV deletion 23714750
esv3559058 CNV deletion 23714750
esv3574147 CNV loss 25503493
nsv1075327 CNV deletion 25765185
nsv1075733 CNV deletion 25765185
nsv1125106 CNV duplication 24896259
nsv1129087 CNV duplication 24896259
nsv1129088 CNV duplication 24896259
nsv1141691 CNV duplication 24896259
nsv1141692 CNV duplication 24896259
nsv1148580 CNV duplication 26484159
nsv1149099 CNV duplication 26484159
nsv1154140 CNV deletion 26484159
nsv425495 CNV deletion 16902084
nsv436631 CNV deletion 17901297
nsv473760 CNV novel sequence insertion 20440878
nsv499477 CNV loss 21111241
nsv510845 CNV deletion 20534489
nsv512686 CNV loss 21212237
nsv515217 CNV loss 21397061
nsv519525 CNV gain 19592680
nsv520837 CNV gain 19592680
nsv525697 CNV gain 19592680
nsv525946 CNV gain 19592680
nsv526936 CNV gain 19592680
nsv6985 CNV deletion 18451855
nsv6986 CNV insertion 18451855
nsv953437 CNV duplication 24416366

Variation tolerance for DACH2 Gene

Residual Variation Intolerance Score: 71.2% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 1.38; 27.26% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for DACH2 Gene

Human Gene Mutation Database (HGMD)
DACH2
SNPedia medical, phenotypic, and genealogical associations of SNPs for
DACH2

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for DACH2 Gene

Disorders for DACH2 Gene

MalaCards: The human disease database

(3) MalaCards diseases for DACH2 Gene - From: HGMD and DISEASES

Disorder Aliases PubMed IDs
miles-carpenter syndrome
  • mcs
allan-herndon-dudley syndrome
  • allan-herndon syndrome
megalocornea
  • anterior megalophthalmos
- elite association - COSMIC cancer census association via MalaCards
Search DACH2 in MalaCards View complete list of genes associated with diseases

Relevant External Links for DACH2

Genetic Association Database (GAD)
DACH2
Human Genome Epidemiology (HuGE) Navigator
DACH2
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
DACH2
genes like me logo Genes that share disorders with DACH2: view

No data available for UniProtKB/Swiss-Prot and Genatlas for DACH2 Gene

Publications for DACH2 Gene

  1. Variation at the NFATC2 locus increases the risk of thiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipril and rosiglitazone Medication (DREAM) study. (PMID: 20628086) Bailey SD … DREAM investigators (Diabetes care 2010) 3 45 60
  2. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 3 4 60
  3. Mutation analysis of two candidate genes for premature ovarian failure, DACH2 and POF1B. (PMID: 15459172) Bione S … Toniolo D (Human reproduction (Oxford, England) 2004) 3 45 60
  4. Architecture of the human interactome defines protein communities and disease networks. (PMID: 28514442) Huttlin EL … Harper JW (Nature 2017) 3 60
  5. Prospective validation of DACH2 as a novel biomarker for prediction of metastasis and prognosis in muscle-invasive urothelial carcinoma of the bladder. (PMID: 25744029) He YD … Li LY (Biochemical and biophysical research communications 2015) 3 60

Products for DACH2 Gene

Sources for DACH2 Gene

Content
Loading form....