DACH2
Dachshund homolog 2
Also known as: DACH2_HUMAN
Cross-references: UniProt · Ensembl · Human Protein Atlas · GeneCards · NCBI Gene
Protein identityUniProt · HPA
- UniProt accession
- Q96NX9
- Gene
- DACH2
- Ensembl
- ENSG00000126733
- Chromosome
- X
- Canonical length
- 599 aa
- Protein class
- Predicted intracellular proteins
- Subcellular location
- Nucleoplasm
OverviewNCBI 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]
Canonical amino-acid sequenceUniProt
599 residues, UniProt reviewed canonical sequence.
>Q96NX9|DACH2
1 MAVSASPVIS ATSSGAGVPG GLFRAEPLYS TPREPPRLTP NMINSFVVNN HSNSAGGGGR
61 GNTNTNECRM VDMHGMKVAS FLMDGQELIC LPQVFDLFLK HLVGGLHTVY TKLKRLDISP
121 VVCTVEQVRI LRGLGAIQPG VNRCKLITRK DFETLFTDCT NARRKRQMTR KQAVNSSRPG
181 RPPKRSLGVL QENARLLTHA VPGLLSPGLI TPTGITAAAM AEAMKLQKMK LMAMNTLQGN
241 GSQNGTESEP DDLNSNTGGS ESSWDKDKMQ SPFAAPGPQH GIAHAALAGQ PGIGGAPTLN
301 PLQQNHLLTN RLDLPFMMMP HPLLPVSLPP ASVAMAMNQM NHLNTIANMA AAAQIHSPLS
361 RAGTSVIKER IPESPSPAPS LEENHRPGSQ TSSHTSSSVS SSPSQMDHHL ERMEEVPVQI
421 PIMKSPLDKI QLTPGQALPA GFPGPFIFAD SLSSVETLLT NIQGLLKVAL DNARIQEKQI
481 QQEKKELRLE LYREREIREN LERQLAVELQ SRTTMQKRLK KEKKTKRKLQ EALEFESKRR
541 EQVEQALKQA TTSDSGLRML KDTGIPDIEI ENNGTPHDSA AMQGGNYYCL EMAQQLYSALocalizationUniProt · AlphaFold · HPA
Whether an antibody against DACH2 can act on the native protein depends on physical access: surface and secreted proteins are reachable by circulating antibodies, intracellular proteins usually are not.
- Antibody reachability
- Intracellular
- Secreted
- No
- Transmembrane segments
- 0
- Mean surface accessibility (rSASA)
- 0.6
- Highest tissue expression
- 10 nTPM
Expression across tissuesHPA
Tissue
- basal ganglia: 10 nTPM
- hypothalamus: 8.6 nTPM
- cerebral cortex: 6.9 nTPM
- hippocampal formation: 6.9 nTPM
- amygdala: 6 nTPM
- fallopian tube: 3.6 nTPM
Single-cell type
- podocytes: 847 nCPM
- corticotrophs: 637 nCPM
- retinal amacrine cells: 159 nCPM
- oligodendrocyte progenitor cells: 120 nCPM
- pancreatic islet cells: 120 nCPM
- vascular smooth muscle cells: 79 nCPM
Immune cell
- basophil: 0 nTPM
- classical monocyte: 0 nTPM
- eosinophil: 0 nTPM
- gdT-cell: 0 nTPM
- intermediate monocyte: 0 nTPM
- MAIT T-cell: 0 nTPM
Brain region
- hypothalamus: 14 nTPM
- cerebral cortex: 9.6 nTPM
- hippocampal formation: 9.2 nTPM
- basal ganglia: 8 nTPM
- pons: 6 nTPM
- amygdala: 5.4 nTPM
Genetic constraint and essentialitygnomAD · DepMap
Does the body need this protein intact? Low LOEUF or a strong DepMap dependency means loss or blockade of the protein is likely to be felt.
- gnomAD LOEUF (loss-of-function intolerance)
- 0.62
- gnomAD pLI
- 0.16
- gnomAD missense Z
- 0.47
- DepMap mean gene effect
- 0.06
- DepMap dependency class
- none
Cancer expressionTCGA
Across TCGA tumor cohorts, this protein is over-expressed in roughly 2% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).
OntologyGO
Biological processes
- development of primary female sexual characteristics
- regulation of transcription by RNA polymerase II
Molecular functions
- DNA-binding transcription factor activity, RNA polymerase II-specific
- RNA polymerase II cis-regulatory region sequence-specific DNA binding
Cellular components
Protein domainsUniProt · Pfam · InterPro
KeywordsUniProt
InteractionsUniProt · HPA
Protein binding partners of DACH2 in the human serome: UniProt-annotated complex subunits plus reported interactors. Each links to its own Seroatlas record.
Antibody and autoantibody relevanceSeroatlas analysis
Seroatlas reads DACH2 as an antibody target. Whether an autoantibody or antibody against DACH2 could matter depends on whether native DACH2 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.
DACH2 is annotated as predominantly intracellular. Intracellular proteins are common autoantibody markers, becoming visible to the immune system after cell injury or altered processing, but are usually markers of disease rather than direct drivers.
Annotation status
The present source text does not explicitly label DACH2 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.
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