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    DACH2 dachshund family transcription factor 2 [ Homo sapiens (human) ]

    Gene ID: 117154, updated on 10-Dec-2024

    Summary

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    Official Symbol
    DACH2provided by HGNC
    Official Full Name
    dachshund family transcription factor 2provided by HGNC
    Primary source
    HGNC:HGNC:16814
    See related
    Ensembl:ENSG00000126733 MIM:300608; AllianceGenome:HGNC:16814
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Summary
    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]
    Expression
    Biased expression in brain (RPKM 3.6) and kidney (RPKM 0.3) See more
    Orthologs
    mouse all
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    Genomic context

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    See DACH2 in Genome Data Viewer
    Location:
    Xq21.2
    Exon count:
    14
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) X NC_000023.11 (86148451..86832602)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) X NC_060947.1 (84579676..85258882)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) X NC_000023.10 (85403455..86087605)

    Chromosome X - NC_000023.11Genomic Context describing neighboring genes Neighboring gene stress induced phosphoprotein 1 pseudogene 3 Neighboring gene eukaryotic translation elongation factor 1 alpha 1 pseudogene 29 Neighboring gene H3K27ac hESC enhancer GRCh37_chrX:85486735-85487235 Neighboring gene thiopurine S-methyltransferase pseudogene 4 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chrX:85518317-85519094 Neighboring gene gem nuclear organelle associated protein 8 pseudogene 3 Neighboring gene NANOG hESC enhancer GRCh37_chrX:85768543-85769058 Neighboring gene ReSE screen-validated silencer GRCh37_chrX:85846538-85846811 Neighboring gene FCF1 pseudogene 9 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chrX:86060209-86060734 Neighboring gene COP9 signalosome subunit 8 pseudogene 1 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chrX:86236311-86237305 Neighboring gene NANOG-H3K27ac hESC enhancer GRCh37_chrX:86261248-86262057 Neighboring gene uncharacterized LOC124905267 Neighboring gene MED14-independent group 3 enhancer GRCh37_chrX:86520149-86521348 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chrX:86771985-86772760 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chrX:86772761-86773536 Neighboring gene kelch like family member 4

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Apr 4 07:08:55 2018

    Bibliography

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    Related articles in PubMed

    1. Most X;autosome translocations associated with premature ovarian failure do not interrupt X-linked genes. Prueitt RL, et al. Cytogenet Genome Res, 2002. PMID 12438735
    2. In vivo characterization of a vertebrate ultraconserved enhancer. Poulin F, et al. Genomics, 2005 Jun. PMID 15885503
    3. Prospective validation of DACH2 as a novel biomarker for prediction of metastasis and prognosis in muscle-invasive urothelial carcinoma of the bladder. He YD, et al. Biochem Biophys Res Commun, 2015 Apr 10. PMID 25744029
    4. Exome sequencing identifies mutations in ABCD1 and DACH2 in two brothers with a distinct phenotype. Zhang Y, et al. BMC Med Genet, 2014 Sep 19. PMID 25234129, Free PMC Article
    5. Mutation analysis of two candidate genes for premature ovarian failure, DACH2 and POF1B. Bione S, et al. Hum Reprod, 2004 Dec. PMID 15459172

    See all (25) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Exome sequencing in two brothers with distinct phenotype including congenital language disorder, growth retardation, intellectual disability and urinary and fecal incontinence, identifies missense mutations in ABCD1 and DACH2.
      Title: Exome sequencing identifies mutations in ABCD1 and DACH2 in two brothers with a distinct phenotype.
    2. DACH2 is an independent prognostic marker that can be used at initial diagnosis of urothelial carcinoma of the bladder to identify patients who have a high potential to develop metastasis.
      Title: Prospective validation of DACH2 as a novel biomarker for prediction of metastasis and prognosis in muscle-invasive urothelial carcinoma of the bladder.
    3. Observational study of gene-disease association, gene-environment interaction, and pharmacogenomic / toxicogenomic. (HuGE Navigator)
      Title: Variation at the NFATC2 locus increases the risk of thiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipril and rosiglitazone Medication (DREAM) study.
    4. Observational study of gene-disease association. (HuGE Navigator)
      Title: Gene-centric association signals for lipids and apolipoproteins identified via the HumanCVD BeadChip.
    5. Most X;autosome translocations associated with premature ovarian failure do not interrupt X-linked genes. Only one of the six breakpoints disrupts a gene, DACH2.
      Title: Most X;autosome translocations associated with premature ovarian failure do not interrupt X-linked genes.
    Submit: New GeneRIF Correction

    Phenotypes

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    Find tests for this gene in the NIH Genetic Testing Registry (GTR)

    Review eQTL and phenotype association data in this region using PheGenI

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Clone Names

    • FLJ31391, MGC138545

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables DNA-binding transcription factor activity, RNA polymerase II-specific IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables RNA polymerase II cis-regulatory region sequence-specific DNA binding IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    Process Evidence Code Pubs
    involved_in development of primary female sexual characteristics IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in regulation of transcription by RNA polymerase II IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    Component Evidence Code Pubs
    is_active_in nucleus IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    part_of transcription regulator complex IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  

    General protein information

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    Preferred Names
    dachshund homolog 2

    NCBI Reference Sequences (RefSeq)

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    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    Genomic

    1. NG_012817.2 RefSeqGene

      Range
      5001..689152
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001139514.1 → NP_001132986.1  dachshund homolog 2 isoform b

      See identical proteins and their annotated locations for NP_001132986.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) includes an alternate in-frame exon in the 5' coding region and an alternate exon in the 3' coding region that results in a frameshift and an early stop codon, compared to variant 1. The encoded isoform (b) is shorter and has a distinct C-terminus, compared to isoform a.
      Source sequence(s)
      AK091842, AK290596, AL834456
      Consensus CDS
      CCDS48140.1
      UniProtKB/TrEMBL
      A8K3I1
      Related
      ENSP00000362223.1, ENST00000373131.5
      Conserved Domains (1) summary
      pfam02437
      Location:67 → 161
      Ski_Sno; SKI/SNO/DAC family

    2. NM_001139515.1 → NP_001132987.1  dachshund homolog 2 isoform c

      See identical proteins and their annotated locations for NP_001132987.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (3) has an alternate 5' exon and uses a downstream start codon, compared to variant 1. The resulting isoform (c) has a shorter N-terminus, compared to isoform a.
      Source sequence(s)
      AF428101, AK290596, AK298787
      Consensus CDS
      CCDS55457.1
      UniProtKB/TrEMBL
      Q1RMF5
      Related
      ENSP00000420896.1, ENST00000508860.5

    3. NM_053281.3 → NP_444511.1  dachshund homolog 2 isoform a

      See identical proteins and their annotated locations for NP_444511.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) encodes the longest isoform (a).
      Source sequence(s)
      AF428101, AK290596
      Consensus CDS
      CCDS14455.1
      UniProtKB/Swiss-Prot
      B1AJV3, B4DQG3, Q8NAY3, Q8ND17, Q96N55, Q96NX9
      UniProtKB/TrEMBL
      A8K3I1
      Related
      ENSP00000362217.4, ENST00000373125.9
      Conserved Domains (1) summary
      pfam02437
      Location:67 → 161
      Ski_Sno; SKI/SNO/DAC family

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000023.11 Reference GRCh38.p14 Primary Assembly

      Range
      86148451..86832602
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_011530846.3 → XP_011529148.1  dachshund homolog 2 isoform X1

      UniProtKB/TrEMBL
      A8K3I1
      Conserved Domains (1) summary
      pfam02437
      Location:67 → 161
      Ski_Sno; SKI/SNO/DAC family

    2. XM_017029254.2 → XP_016884743.1  dachshund homolog 2 isoform X2

      UniProtKB/TrEMBL
      A8K3I1

    3. XM_017029255.2 → XP_016884744.1  dachshund homolog 2 isoform X4

      UniProtKB/TrEMBL
      A8K3I1

    4. XM_011530847.4 → XP_011529149.1  dachshund homolog 2 isoform X3

      UniProtKB/TrEMBL
      A8K3I1
      Conserved Domains (1) summary
      pfam02437
      Location:67 → 161
      Ski_Sno; SKI/SNO/DAC family

    5. XM_011530848.4 → XP_011529150.1  dachshund homolog 2 isoform X5

      UniProtKB/TrEMBL
      A8K3I1
      Conserved Domains (1) summary
      pfam02437
      Location:67 → 161
      Ski_Sno; SKI/SNO/DAC family

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060947.1 Alternate T2T-CHM13v2.0

      Range
      84579676..85258882
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054326427.1 → XP_054182402.1  dachshund homolog 2 isoform X1

      UniProtKB/TrEMBL
      A8K3I1

    2. XM_054326428.1 → XP_054182403.1  dachshund homolog 2 isoform X2

      UniProtKB/TrEMBL
      A8K3I1

    3. XM_054326430.1 → XP_054182405.1  dachshund homolog 2 isoform X4

      UniProtKB/TrEMBL
      A8K3I1

    4. XM_054326429.1 → XP_054182404.1  dachshund homolog 2 isoform X3

      UniProtKB/TrEMBL
      A8K3I1

    5. XM_054326431.1 → XP_054182406.1  dachshund homolog 2 isoform X5

      UniProtKB/TrEMBL
      A8K3I1
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q96NX9.1 GenPept UniProtKB/Swiss-Prot:Q96NX9

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