Human Gene DACH2 (ENST00000373125.9) from GENCODE V44
  Description: Homo sapiens dachshund family transcription factor 2 (DACH2), transcript variant 1, mRNA. (from RefSeq NM_053281)
RefSeq Summary (NM_053281): 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].
Gencode Transcript: ENST00000373125.9
Gencode Gene: ENSG00000126733.22
Transcript (Including UTRs)
   Position: hg38 chrX:86,148,451-86,832,602 Size: 684,152 Total Exon Count: 12 Strand: +
Coding Region
   Position: hg38 chrX:86,148,621-86,832,155 Size: 683,535 Coding Exon Count: 12 

Page IndexSequence and LinksUniProtKB CommentsPrimersMalaCardsCTD
RNA-Seq ExpressionMicroarray ExpressionRNA StructureProtein StructureOther SpeciesGO Annotations
mRNA DescriptionsOther NamesMethods
Data last updated at UCSC: 2023-08-18 00:09:47

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chrX:86,148,451-86,832,602)mRNA (may differ from genome)Protein (599 aa)
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HGNCHPRDLynxMalacardsMGIneXtProt
OMIMPubMedUniProtKBWikipediaBioGrid CRISPR DB

-  Comments and Description Text from UniProtKB
  ID: DACH2_HUMAN
DESCRIPTION: RecName: Full=Dachshund homolog 2; Short=Dach2;
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.
SUBUNIT: Interacts with SIX6 and EYA2 (By similarity).
SUBCELLULAR LOCATION: Nucleus (Probable).
DOMAIN: The DACHbox-N/DD1 domain forms a structure containing a DNA binding motif similar to that of the forkhead/winged helix domain (By similarity).
SIMILARITY: Belongs to the DACH/dachshund family.

-  Primer design for this transcript
 

Primer3Plus can design qPCR Primers that straddle exon-exon-junctions, which amplify only cDNA, not genomic DNA.
Click here to load the transcript sequence and exon structure into Primer3Plus

Exonprimer can design one pair of Sanger sequencing primers around every exon, located in non-genic sequence.
Click here to open Exonprimer with this transcript

To design primers for a non-coding sequence, zoom to a region of interest and select from the drop-down menu: View > In External Tools > Primer3


-  MalaCards Disease Associations
  MalaCards Gene Search: DACH2
Diseases sorted by gene-association score: miles-carpenter syndrome (12), allan-herndon-dudley syndrome (8), megalocornea (7)

-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene

-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 3.67 RPKM in Brain - Nucleus accumbens (basal ganglia)
Total median expression: 23.02 RPKM



View in GTEx track of Genome Browser    View at GTEx portal     View GTEx Body Map

+  Microarray Expression Data
  Press "+" in the title bar above to open this section.

-  mRNA Secondary Structure of 3' and 5' UTRs
 
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -44.20170-0.260 Picture PostScript Text
3' UTR -89.60447-0.200 Picture PostScript Text

The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.

-  Protein Domain and Structure Information
  InterPro Domains: Graphical view of domain structure
IPR009061 - DNA-bd_dom_put
IPR003380 - Transform_Ski

Pfam Domains:
PF02437 - SKI/SNO/DAC family

ModBase Predicted Comparative 3D Structure on Q96NX9
FrontTopSide
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-  Orthologous Genes in Other Species
  Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
MouseRatZebrafishD. melanogasterC. elegansS. cerevisiae
Genome BrowserGenome BrowserNo orthologNo orthologNo orthologNo ortholog
Gene Details     
Gene Sorter     
MGIRGD    
Protein SequenceProtein Sequence    
AlignmentAlignment    

-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0000981 RNA polymerase II transcription factor activity, sequence-specific DNA binding
GO:0001075 transcription factor activity, RNA polymerase II core promoter sequence-specific binding involved in preinitiation complex assembly
GO:0003677 DNA binding

Biological Process:
GO:0006351 transcription, DNA-templated
GO:0006355 regulation of transcription, DNA-templated
GO:0006357 regulation of transcription from RNA polymerase II promoter
GO:0007275 multicellular organism development
GO:0046545 development of primary female sexual characteristics
GO:0051123 RNA polymerase II transcriptional preinitiation complex assembly

Cellular Component:
GO:0005634 nucleus
GO:0005667 transcription factor complex


-  Descriptions from all associated GenBank mRNAs
  AK290596 - Homo sapiens cDNA FLJ75650 complete cds, highly similar to Homo sapiens dachshund homolog 2 (Drosophila) (DACH2), mRNA.
AK091842 - Homo sapiens cDNA FLJ34523 fis, clone HLUNG2007210, moderately similar to Gallus gallus Dach2 protein (Dach2) mRNA.
AX747214 - Sequence 739 from Patent EP1308459.
AB527460 - Synthetic construct DNA, clone: pF1KB7820, Homo sapiens DACH2 gene for dachshund homolog 2, without stop codon, in Flexi system.
BC114950 - Homo sapiens dachshund homolog 2 (Drosophila), mRNA (cDNA clone MGC:138545 IMAGE:40006598), complete cds.
AF428101 - Homo sapiens dachshund 2 (DACH2) mRNA, complete cds.
KJ903667 - Synthetic construct Homo sapiens clone ccsbBroadEn_13061 DACH2 gene, encodes complete protein.
AK298787 - Homo sapiens cDNA FLJ55478 complete cds, highly similar to Dachshund homolog 2.
AK055953 - Homo sapiens cDNA FLJ31391 fis, clone NT2NE1000063, moderately similar to Gallus gallus Dach2 protein mRNA.
AK295648 - Homo sapiens cDNA FLJ56972 complete cds, highly similar to Dachshund homolog 2.
AK294498 - Homo sapiens cDNA FLJ60106 complete cds, highly similar to Dachshund homolog 2.
BC048423 - Homo sapiens dachshund homolog 2 (Drosophila), mRNA (cDNA clone IMAGE:4818714), with apparent retained intron.
BC040213 - Homo sapiens dachshund homolog 2 (Drosophila), mRNA (cDNA clone IMAGE:4821068), with apparent retained intron.
AL834456 - Homo sapiens mRNA; cDNA DKFZp547E076 (from clone DKFZp547E076).
JD273743 - Sequence 254767 from Patent EP1572962.

-  Other Names for This Gene
  Alternate Gene Symbols: B1AJV3, B4DQG3, DACH2_HUMAN, ENST00000373125.1, ENST00000373125.2, ENST00000373125.3, ENST00000373125.4, ENST00000373125.5, ENST00000373125.6, ENST00000373125.7, ENST00000373125.8, NM_053281, Q8NAY3, Q8ND17, Q96N55, Q96NX9, uc004eew.1, uc004eew.2, uc004eew.3, uc004eew.4
UCSC ID: ENST00000373125.9
RefSeq Accession: NM_053281
Protein: Q96NX9 (aka DACH2_HUMAN or DAH2_HUMAN)
CCDS: CCDS14455.1, CCDS48140.1

-  Methods, Credits, and Use Restrictions
  Click here for details on how this gene model was made and data restrictions if any.