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 inter... See more...

Aliases for DACH2 Gene

Aliases for DACH2 Gene

  • Dachshund Family Transcription Factor 2 2 3 5
  • Dachshund Homolog 2 3 4
  • 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 Enterobiasis and Miles-Carpenter Syndrome. An important paralog of this gene is DACH1.

UniProtKB/Swiss-Prot Summary 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 other's 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 , Rfam classification and piRNA Summary for DACH2 Gene

Genomics for DACH2 Gene

GeneHancer (GH) Regulatory Elements for DACH2 Gene

Promoters and enhancers for DACH2 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
GH0XJ086147 Promoter/Enhancer 1.8 EPDnew FANTOM5 Ensembl ENCODE CraniofacialAtlas 505.2 +0.3 256 2.6 SP2 MXI1 CTCF POLR2A KLF9 ZNF335 PKNOX1 RNF2 TCF7L2 TAF1 DACH2 piR-57604-004
GH0XJ086154 Enhancer 0.5 UCNEbase 0.4 +6.3 6253 0.3 EP300 POLR2A DACH2 piR-57604-004
GH0XJ086157 Enhancer 0.3 UCNEbase 0.4 +9.1 9107 0.3 piR-57604-004 DACH2
GH0XJ086210 Enhancer 0.5 UCNEbase 0.2 +62.5 62503 0.4 GATA3 GATA2 piR-53029-135 piR-42694-182 DACH2
GH0XJ086137 Enhancer 0.2 Ensembl 0.4 -11.4 -11350 0.2 TPMTP4 DACH2
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around DACH2 on UCSC Golden Path with GeneCards custom track

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for DACH2

Top Transcription factor binding sites by QIAGEN in the DACH2 gene promoter:
  • CUTL1
  • FOXO1a
  • HNF-1
  • HNF-1A
  • ITF-2
  • Lmo2
  • Pbx1a
  • SRF
  • SRF (504 AA)
  • Tal-1beta

Genomic Locations for DACH2 Gene

Genomic Locations for DACH2 Gene
chrX:86,148,451-86,832,604
(GRCh38/hg38)
Size:
684,154 bases
Orientation:
Plus strand
chrX:85,403,455-86,087,607
(GRCh37/hg19)
Size:
684,153 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

Suggested Antigen Peptide Sequences for DACH2 Gene

GenScript: Design optimal peptide antigens:
  • Dachshund homolog 2 (Drosophila) (B1AJV4_HUMAN)
  • cDNA FLJ55478, highly similar to Dachshund homolog 2 (B4DQG3_HUMAN)
  • Dachshund homolog 2 (DACH2_HUMAN)
  • DACH2 protein (Q1RMF5_HUMAN)

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 other's 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:0000981 DNA-binding transcription factor activity, RNA polymerase II-specific NAS 19274049
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

Clone 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
plasma membrane 1
extracellular 1
cytoskeleton 1
mitochondrion 1
endoplasmic reticulum 0
lysosome 0

Subcellular locations from the

Human Protein Atlas (HPA)

Gene Ontology (GO) - Cellular Components for DACH2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IBA 21873635
GO:0005667 transcription factor complex IBA 21873635
genes like me logo Genes that share ontologies with DACH2: view

Pathways & Interactions for DACH2 Gene

PathCards logo

SuperPathways for DACH2 Gene

No Data Available

Gene Ontology (GO) - Biological Process for DACH2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006355 regulation of transcription, DNA-templated IBA 21873635
GO:0006357 regulation of transcription by RNA polymerase II IEA --
GO:0007275 multicellular organism development IEA --
GO:0046545 development of primary female sexual characteristics 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

mRNA/cDNA for DACH2 Gene

3 REFSEQ mRNAs :
11 NCBI additional mRNA sequence :
8 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

Clone 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

Expression for DACH2 Gene

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



Protein tissue co-expression partners for DACH2 Gene

- Elite partner

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for 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

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 31 30
  • 99.45 (n)
OneToOne
cow
(Bos Taurus)
Mammalia DACH2 31
  • 92 (a)
OneToOne
dog
(Canis familiaris)
Mammalia DACH2 31 30
  • 91.15 (n)
OneToOne
mouse
(Mus musculus)
Mammalia Dach2 17 31 30
  • 90.37 (n)
rat
(Rattus norvegicus)
Mammalia Dach2 30
  • 89.51 (n)
oppossum
(Monodelphis domestica)
Mammalia -- 31
  • 75 (a)
OneToMany
-- 31
  • 63 (a)
OneToMany
platypus
(Ornithorhynchus anatinus)
Mammalia DACH2 31
  • 74 (a)
OneToOne
chicken
(Gallus gallus)
Aves DACH2 31 30
  • 77.78 (n)
OneToOne
lizard
(Anolis carolinensis)
Reptilia DACH2 31
  • 65 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia dach2 30
  • 73.31 (n)
zebrafish
(Danio rerio)
Actinopterygii dacha 31 30 30
  • 68.96 (n)
OneToMany
dachb 31
  • 53 (a)
OneToMany
fruit fly
(Drosophila melanogaster)
Insecta dac 31 32
  • 15 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea dac-1 31
  • 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)
Aminode:
Evolutionary constrained regions (ECRs) for DACH2: view image

Paralogs for DACH2 Gene

Paralogs for DACH2 Gene

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

  • DACH2_HUMAN
  • D6REJ4_HUMAN
  • D6RFG7_HUMAN
  • H0Y912_HUMAN
  • Q1RMF5_HUMAN
genes like me logo Genes that share paralogs with DACH2: view

Variants for DACH2 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for DACH2 Gene

SNP ID Clinical significance and condition Chr 0X pos Variation AA Info Type
rs143491219 Uncertain Significance: not provided 86,814,766(+) G/A MISSENSE_VARIANT
rs765715387 Benign: Abnormality of neuronal migration 86,812,876(+) C/T MISSENSE_VARIANT

Additional dbSNP identifiers (rs#s) for DACH2 Gene

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)

Additional Variant Information for DACH2 Gene

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

SNP Genotyping and Copy Number Assay Products

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: DISEASES

Disorder Aliases PubMed IDs
enterobiasis
  • enterobius vermicularis infection
miles-carpenter syndrome
  • miles-carpenter x-linked mental retardation syndrome
premature ovarian failure 1
  • pof1
- elite association - COSMIC cancer census association via MalaCards
Search DACH2 in MalaCards View complete list of genes associated with diseases

Additional Disease Information for DACH2

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
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 41 54
  2. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 3 4 54
  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 41 54
  4. Architecture of the human interactome defines protein communities and disease networks. (PMID: 28514442) Huttlin EL … Harper JW (Nature 2017) 3 54
  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 54

Products for DACH2 Gene

  • Signalway ELISA kits for DACH2
  • Signalway Proteins for DACH2

Sources for DACH2 Gene