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

Gene ID: 117154, updated on 3-Apr-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
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Genomic context

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Location:
Xq21.2
Exon count:
14
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) X NC_000023.11 (86148451..86832602)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) X NC_060947.1 (84579676..85258882)
105.20220307 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. 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
  2. In vivo characterization of a vertebrate ultraconserved enhancer. Poulin F, et al. Genomics, 2005 Jun. PMID 15885503
  3. 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
  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 (24) 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)

Genotypes

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_2023_10

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

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

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

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

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

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

Gene LinkOut

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