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

Gene ID: 117154, updated on 5-Sep-2021

Summary

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
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

See DACH2 in Genome Data Viewer
Location:
Xq21.2
Exon count:
13
Annotation release Status Assembly Chr Location
109.20210514 current GRCh38.p13 (GCF_000001405.39) X NC_000023.11 (86148451..86832602)
105.20201022 previous assembly GRCh37.p13 (GCF_000001405.25) X NC_000023.10 (85403455..86087605)

Chromosome X - NC_000023.11Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC112267875 Neighboring gene stress induced phosphoprotein 1 pseudogene 3 Neighboring gene eukaryotic translation elongation factor 1 alpha 1 pseudogene 29 Neighboring gene thiopurine S-methyltransferase pseudogene 4 Neighboring gene gem nuclear organelle associated protein 8 pseudogene 3 Neighboring gene FCF1 pseudogene 9 Neighboring gene COP9 signalosome subunit 8 pseudogene 1 Neighboring gene kelch like family member 4 Neighboring gene ribosomal protein SA pseudogene 15

Genomic regions, transcripts, and products

Expression

  • 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

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • FLJ31391, MGC138545

Gene Ontology Provided by GOA

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
PubMed 
Component Evidence Code Pubs
is_active_in nucleus IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
part_of transcription regulator complex IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 

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_001139514.1NP_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/Swiss-Prot
    Q96NX9
    UniProtKB/TrEMBL
    A8K3I1
    Related
    ENSP00000362223.1, ENST00000373131.5
    Conserved Domains (1) summary
    pfam02437
    Location:67161
    Ski_Sno; SKI/SNO/DAC family
  2. NM_001139515.1NP_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/Swiss-Prot
    Q96NX9
    UniProtKB/TrEMBL
    A8K3I1
    Related
    ENSP00000420896.1, ENST00000508860.5
  3. NM_053281.3NP_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
    Q96NX9
    UniProtKB/TrEMBL
    A8K3I1
    Related
    ENSP00000362217.4, ENST00000373125.9
    Conserved Domains (1) summary
    pfam02437
    Location:67161
    Ski_Sno; SKI/SNO/DAC family

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20210514

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000023.11 Reference GRCh38.p13 Primary Assembly

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

mRNA and Protein(s)

  1. XM_011530847.3XP_011529149.1  dachshund homolog 2 isoform X3

    Conserved Domains (1) summary
    pfam02437
    Location:67161
    Ski_Sno; SKI/SNO/DAC family
  2. XM_011530846.3XP_011529148.1  dachshund homolog 2 isoform X1

    Conserved Domains (1) summary
    pfam02437
    Location:67161
    Ski_Sno; SKI/SNO/DAC family
  3. XM_011530848.3XP_011529150.1  dachshund homolog 2 isoform X5

    Conserved Domains (1) summary
    pfam02437
    Location:67161
    Ski_Sno; SKI/SNO/DAC family
  4. XM_017029254.2XP_016884743.1  dachshund homolog 2 isoform X2

  5. XM_017029255.2XP_016884744.1  dachshund homolog 2 isoform X4

  6. XM_017029256.2XP_016884745.1  dachshund homolog 2 isoform X6

    UniProtKB/Swiss-Prot
    Q96NX9
    Conserved Domains (1) summary
    pfam02437
    Location:67161
    Ski_Sno; SKI/SNO/DAC family
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