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Category   Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21
GIFtS

DACH2 Gene

protein-coding   GIFtS: 53
GCID: GC0XP085403

Dachshund Homolog 2 (Drosophila)

  See related diseases
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
About This Section

Aliases
Dachshund Homolog 2 (Drosophila)1 2
Dachshund Homolog 22
Dach23

External Ids:    HGNC: 168141   Entrez Gene: 1171542   Ensembl: ENSG000001267337   OMIM: 3006085   UniProtKB: Q96NX93   

Export aliases for DACH2 gene to outside databases

Previous GC identifers: GC0XP080783 GC0XP082480 GC0XP083439 GC0XP084175 GC0XP085209 GC0XP085290 GC0XP078980


(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

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 homolog 2 (Drosophila)) is a protein-coding gene. Diseases associated with DACH2 include allan-herndon-dudley syndrome, and premature ovarian failure. GO annotations related to this gene include DNA binding and nucleotide binding. An important paralog of this gene is DACH1.

UniProtKB/Swiss-Prot: DACH2_HUMAN, Q96NX9
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




(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 73), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000023.10  NT_011651.17  NC_018934.2  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the DACH2 gene promoter:
         SRF   Pbx1a   SRF (504 AA)   Lmo2   CUTL1   Tal-1beta   HNF-1A   HNF-1   FOXO1a   ITF-2   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidDACH2 promoter sequence
   Search SABiosciences Chromatin IP Primers for DACH2

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat DACH2


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: Xq21.3   Ensembl cytogenetic band:  Xq21.2   HGNC cytogenetic band: Xq21.3

DACH2 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
DACH2 gene location

GeneLoc information about chromosome X         GeneLoc Exon Structure

GeneLoc location for GC0XP085403:  view genomic region     (about GC identifiers)

Start:
85,403,455 bp from pter      End:
86,087,607 bp from pter
Size:
684,153 bases      Orientation:
plus strand

(According to UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MAXQB RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Ontologies according to Gene Ontology Consortium 01 Oct 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
About This Section

UniProtKB/Swiss-Prot: DACH2_HUMAN, Q96NX9 (See protein sequence)
Recommended Name: Dachshund homolog 2  
Size: 599 amino acids; 65323 Da
Subunit: Interacts with SIX6 and EYA2 (By similarity)
Subcellular location: Nucleus (Probable)
Secondary accessions: B1AJV3 B4DQG3 Q8NAY3 Q8ND17 Q96N55
Alternative splicing: 4 isoforms:  Q96NX9-1   Q96NX9-2   Q96NX9-3   Q96NX9-4   (No experimental confirmation available)

Explore the universe of human proteins at neXtProt for DACH2: NX_Q96NX9

Explore proteomics data for DACH2 at MOPED 

Post-translational modifications:

  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_Q96NX9

  • DACH2 Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    DACH2 Protein Expression
    REFSEQ proteins (3 alternative transcripts): 
    NP_001132986.1  NP_001132987.1  NP_444511.1  

    ENSEMBL proteins: 
     ENSP00000362223   ENSP00000421509   ENSP00000426837   ENSP00000362217   ENSP00000420896  
     ENSP00000421919   ENSP00000422727  

    Human Recombinant Protein Products for DACH2: 
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    OriGene MassSpec for DACH2 
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    GenScript Custom Purified and Recombinant Proteins Services for DACH2
    Novus Biologicals DACH2 Lysate
    Browse Sino Biological Recombinant Proteins
    Browse Sino Biological Cell Lysates 
    Browse ProSpec Recombinant Proteins
    Cloud-Clone Corp. Proteins for DACH2 

    Gene Ontology (GO): 2 cellular component terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005634nucleus IDA--
    GO:0005730NOT nucleolus IDA--

    DACH2 for ontologies           About GeneDecksing



    DACH2 Antibody Products: 
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    Search ThermoFisher Antibodies for DACH2
    LSBio Antibodies in human, mouse, rat for DACH2 

    Assay Products for DACH2: 
    Browse Kits and Assays available from EMD Millipore
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    Cloud-Clone Corp. ELISAs for DACH2 
    Cloud-Clone Corp. CLIAs for DACH2


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    2 InterPro protein domains:
     IPR009061 DNA-bd_dom_put
     IPR003380 Transform_Ski

    Graphical View of Domain Structure for InterPro Entry Q96NX9

    ProtoNet protein and cluster: Q96NX9

    UniProtKB/Swiss-Prot: DACH2_HUMAN, Q96NX9
    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


    DACH2 for domains           About GeneDecksing


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
    bound targets from SABiosciences, miRNA Gene Targets from miRTarBase, shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Sirion Biotech, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, Vector BioLabs, and Sirion Biotech, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene.)
    About This Section

    Molecular Function:

         UniProtKB/Swiss-Prot Summary: DACH2_HUMAN, Q96NX9
    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

         Gene Ontology (GO): 2 molecular function terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000166nucleotide binding IEA--
    GO:0003677DNA binding IEA--
         
    DACH2 for ontologies           About GeneDecksing


    Phenotypes:
         1 GenomeRNAi human phenotype for DACH2:
     Decreased viability of wild-ty 

         1 MGI mutant phenotype (inferred from 2 alleles(MGI details for Dach2):
     normal 

    DACH2 for phenotypes           About GeneDecksing

    Animal Models:
         MGI mouse knock-out Dach2tm1.1Mrd for DACH2

       inGenious Targeting Laboratory - Custom generated mouse model solutions for DACH2 
       inGenious Targeting Laboratory - Custom generated inducible mouse model solutions for DACH2

       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for DACH2 
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for DACH2 

    miRNA
    Products:
        
    QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat DACH2
    1 QIAGEN miScript miRNA Assays for microRNA that regulate DACH2:
    hsa-miR-217
    SwitchGear 3'UTR luciferase reporter plasmidDACH2 3' UTR sequence
    Inhib. RNA
    Products:
        
    Browse for Gene Knock-down Tools from EMD Millipore
    OriGene RNAi products in human, mouse, rat for DACH2
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    Gene Editing
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    Sirion Biotech Customized adenovirus for overexpression of DACH2

    Clone
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    GenScript: all cDNA clones in your preferred vector (see all 3): DACH2 (NM_053281)
    Browse Sino Biological Human cDNA Clones
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                         Customized lentivirus expression plasmids for stable overexpression of DACH2 

    Cell Line
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    Search LifeMap BioReagents cell lines for DACH2
    In Situ Assay
    Products:
       

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for DACH2


    (Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene).
    About This Section



    Interactions:

        Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for DACH2

    STRING Interaction Network Preview (showing 3 interactants - click image to see more details)

    3 Interacting proteins for DACH2 (Q96NX93 ENSP000003622174) via UniProtKB, MINT, STRING, and/or I2D
    InteractantInteraction Details
    GeneCardExternal ID(s)
    IRF9Q009783, ENSP000003800734I2D: score=1 STRING: ENSP00000380073
    KAT2BQ928313, ENSP000002637544I2D: score=1 STRING: ENSP00000263754
    NCOR1O753763, ENSP000002687124I2D: score=1 STRING: ENSP00000268712
    About this table

    Gene Ontology (GO): 3 biological process terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006351transcription, DNA-dependent IEA--
    GO:0006355regulation of transcription, DNA-dependent IEA--
    GO:0046545development of primary female sexual characteristics IEA--

    DACH2 for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
    About This Section
    Browse Small Molecules at EMD Millipore
    Browse drugs & compounds from Enzo Life Sciences

    Browse Tocris compounds for DACH2

    Search CenterWatch for drugs/clinical trials and news about DACH2

    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    Conferences by KenesGroup, exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    RNAi Products from EMD Millipore,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
    Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Sirion Biotech, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section

    REFSEQ mRNAs for DACH2 gene (3 alternative transcripts): 
    NM_001139514.1  NM_001139515.1  NM_053281.3  

    Unigene Cluster for DACH2:

    Dachshund homolog 2 (Drosophila)
    Hs.86603  [show with all ESTs]
    Unigene Representative Sequence: BC048423
    8 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000373131(uc004eex.2 uc010nmq.2) ENST00000461604(uc004eew.2)
    ENST00000506327 ENST00000373125 ENST00000508860(uc011mra.1) ENST00000510272(uc010nmr.2)
    ENST00000484479(uc004eey.3 uc004eez.3) ENST00000477378
    miRNA
    Products:
         
    QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat DACH2
    1 QIAGEN miScript miRNA Assays for microRNA that regulate DACH2:
    hsa-miR-217
    SwitchGear 3'UTR luciferase reporter plasmidDACH2 3' UTR sequence
    Inhib. RNA
    Products:
         
    Browse for Gene Knock-down Tools from EMD Millipore
    OriGene RNAi products in human, mouse, rat for DACH2
    QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat DACH2
    Clone
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    OriGene clones in human, mouse for DACH2 (see all 19)
    OriGene ORF clones in mouse, rat for DACH2
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector (see all 3): DACH2 (NM_053281)
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for DACH2
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat DACH2
    Sirion Biotech Customized lentivirus for stable overexpression of DACH2 
                         Customized lentivirus expression plasmids for stable overexpression of DACH2 
    Primer
    Products:
        
    OriGene qSTAR qPCR primer pairs in human, mouse for DACH2
    SABiosciences RT2 qPCR Primer Assay in human, mouse, rat DACH2
      QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat DACH2
      QIAGEN QuantiFast Probe-based Assays in human, mouse, rat DACH2

    Additional mRNA sequence: 

    AF428101.1 AK055953.1 AK091842.1 AK290596.1 AK294498.1 AK295648.1 AK298787.1 AL834456.1 
    BC040213.1 BC048423.1 BC114950.1 

    6 DOTS entries:

    DT.40117719  DT.100019168  DT.406928  DT.101973322  DT.100749541  DT.121302091 

    24/26 AceView cDNA sequences (see all 26):

    AA776596 AL712187 AK091842 BQ267186 AA214293 NM_053281 AL834456 AF428101 
    BX107126 AX747214 AW780006 AI809398 BG704485 BC040213 BC048423 CK906044 
    AL699905 BQ777896 BQ777596 AK055953 BQ272444 BX471230 AA330188 BU950092 

    GeneLoc Exon Structure

    3 Alternative Splicing Database (ASD) splice patterns (SP) for DACH2    About this scheme

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


    ECgene alternative splicing isoforms for DACH2

    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

    DACH2 expression in normal human tissues (normalized intensities)      DACH2 embryonic expression: see
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: GCTGCTGCAG
    DACH2 Expression
    About this image


    DACH2 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database 
     5/30 selected tissues (see all 30) fully expand
     
     Brain (Nervous System)    fully expand to see all 5 entries
             Cerebral Cortex
             posterior singulate   
     
     Colon (Gastrointestinal Tract)    fully expand to see all 4 entries
             colon ; peripheral nerve/ganglion   
     
     Uterus
             uterus, post-menopause ; glandular cells   
     
     Uncategorized (Uncategorized)    fully expand to see all 4 entries
             PureStem Progenitor ES-263
     
     Kidney (Urinary System)    fully expand to see all 3 entries
             kidney ; cells in tubules   
             visceral organ/urachus   

    See DACH2 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for DACH2

    SOURCE GeneReport for Unigene cluster: Hs.86603
        SABiosciences Custom PCR Arrays for DACH2
    Primer
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    QIAGEN QuantiFast Probe-based Assays in human, mouse, rat DACH2
    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for DACH2

    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
    About This Section

    This gene was present in the common ancestor of animals.

    Orthologs for DACH2 gene from 6/12 species (see all 12)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Dach21 , 5 dachshund 2 (Drosophila)1, 5 90.26(n)1
    93.49(a)1
      X (49.13 cM)5
    938371  NM_033605.21  NP_291083.11 
     1132975105 
    chicken
    (Gallus gallus)
    Aves DACH21 dachshund homolog 2 (Drosophila) 78.15(n)
    80.67(a)
      395576  NM_204795.1  NP_990126.1 
    lizard
    (Anolis carolinensis)
    Reptilia DACH26
    dachshund homolog 2 (Drosophila)
    64(a)
    1 ↔ 1
    GL343202.1(1315144-1622834)
    zebrafish
    (Danio rerio)
    Actinopterygii dacha2 dachshund a 74.73(n)   192121  AF427108.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta dac3 mushroom body development RNA
    polymerase II transcription more
    70(a)   36A1   --
    worm
    (Caenorhabditis elegans)
    Secernentea dac-16
    Protein DAC-1, isoform a
    28(a)
    1 → many
    III(816246-821729)


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

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for DACH2 gene
    DACH12  
    2 SIMAP similar genes for DACH2 using alignment to 5 protein entries:     DACH2_HUMAN (see all proteins):
    FAM175A    DACH1

    DACH2 for paralogs           About GeneDecksing



    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
    About This Section

    10/10806 SNPs in DACH2 are shown (see all 10806)    About this table     
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr X posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs2428481,2
    C--85401486(-) GCCACG/AAGACA 2 -- us2k1 tfbs33Minor allele frequency- A:0.03MN WA 188
    rs1875224341,2
    --85401575(+) TTAACC/TCTGTA 2 -- us2k10--------
    rs1909158341,2
    --85401657(+) GAAGAA/TAATAT 2 -- us2k10--------
    rs1833198671,2
    C--85401726(+) AAAAGA/GACCCA 2 -- us2k10--------
    rs1891704341,2
    --85401755(+) TGCTAA/TGTACA 2 -- us2k10--------
    rs1436624041,2
    C--85401948(+) TTAGAG/TAATGA 2 -- us2k10--------
    rs1923032851,2
    --85401965(+) TGACAA/GGGAGT 2 -- us2k10--------
    rs1846556141,2
    --85402034(+) GGGAGC/GCCGAG 2 -- us2k10--------
    rs562560251,2
    C--85402094(+) TGAAAT/CCCTGT 2 -- us2k11Minor allele frequency- C:0.00NA 1
    rs48283651,2
    C,A,H--85402140(+) tatatA/Gtatgt 2 -- us2k10--------

    HapMap Linkage Disequilibrium report for DACH2 (85403455 - 85653455 bp, first 250kb of DACH2)

    Structural Variations
         Database of Genomic Variants (DGV) 10/24 variations for DACH2 (see all 24):    About this table     
    Variant IDTypeSubtypePubMed ID
    esv2659577CNV Deletion23128226
    nsv436631CNV Deletion17901297
    esv2227206CNV Deletion18987734
    esv2740279CNV Deletion23290073
    esv2740276CNV Deletion23290073
    esv2740280CNV Deletion23290073
    esv2740278CNV Deletion23290073
    esv2538515CNV Deletion19546169
    esv2164340CNV Deletion18987734
    nsv6986CNV Insertion18451855


    Locus Specific Mutation Databases (LSDB): DACH2
    SABiosciences Cancer Mutation PCR Assays
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    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section
    OMIM gene information: 300608    OMIM disorders: --

    2 diseases for DACH2:    About MalaCards
    allan-herndon-dudley syndrome    premature ovarian failure

    2 diseases from the University of Copenhagen DISEASES database for DACH2:
    Allan-Herndon-Dudley syndrome     Premature ovarian failure

    DACH2 for disorders           About GeneDecksing

    Genetic Association Database (GAD): DACH2
    Human Genome Epidemiology (HuGE) Navigator: DACH2 (4 documents)

    Export disorders for DACH2 gene to outside databases

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
    About This Section

    PubMed articles for DACH2 gene, integrated from 9 sources (see all 17):
    (articles sorted by number of sources associating them with DACH2)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Variation at the NFATC2 locus increases the risk of t hiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipr il and rosiglitazone Medication (DREAM) study. (PubMed id 20628086)1, 4 Bailey S.D....Anand S. (2010)
    2. Mutation analysis of two candidate genes for premature ovarian failure, DACH2 and POF1B. (PubMed id 15459172)1, 4 Bione S.... Toniolo D. (2004)
    3. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (2004)
    4. An atlas of combinatorial transcriptional regulation in mouse and man. (PubMed id 20211142)1 Ravasi T....Hayashizaki Y. (2010)
    5. Gene-centric association signals for lipids and apoli poproteins identified via the HumanCVD BeadChip. (PubMed id 19913121)1 Talmud P.J.... . (2009)
    6. Toward a confocal subcellular atlas of the human proteome. (PubMed id 18029348)1 Barbe L....Andersson-Svahn H. (2008)
    7. Genome-wide association and linkage analyses of hemostatic factors and hematological phenotypes in the Framingham Heart Study. (PubMed id 17903294)4 Yang Q....O'Donnell C.J. (2007)
    8. The full-ORF clone resource of the German cDNA consortium. (PubMed id 17974005)2 Bechtel S.... Schupp I. (2007)
    9. Roles of HIPK1 and HIPK2 in AML1- and p300-dependent transcription, hematopoiesis and blood vessel formation. (PubMed id 16917507)1 Aikawa Y....Kitabayashi I. (2006)
    10. Diversification of transcriptional modulation: large-scale identification and characterization of putative alternative promoters of human genes. (PubMed id 16344560)1 Kimura K.... Sugano S. (2006)

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     ANDOR
    Aliases
    Free Text  

      Query String
    PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section
    Entrez Gene: 117154 HGNC: 16814 AceView: DACH2 Ensembl:ENSG00000126733 euGenes: HUgn117154
    ECgene: DACH2 H-InvDB: DACH2

    (According to HUGE)
    About This Section
      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
    Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
    About This Section
    NameDescription
    PharmGKB entry for DACH2 Pharmacogenomics, SNPs, Pathways

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section
    Patent Information for DACH2 gene:
    Search GeneIP for patents involving DACH2

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



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    GeneCards Homepage - Last full update: 23 Oct 2013 - Incrementals: 3 Nov 2013 , 7 Nov 2013 , 23 Jan 2014

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