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10 sources retrieved · Most recent: April 2026 · Index updated 15 days ago
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DACH2
dachshund family transcription factor 2
Chromosome X · Xq21.2
NCBI Gene: 117154Ensembl: ENSG00000126733.22HGNC: HGNC:16814UniProt: A8K3I1
27PubMed Papers
20Diseases
0Drugs
0Pathogenic Variants
FUNCTIONAL ROLE
Transcription Factor
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
RNA polymerase II cis-regulatory region sequence-specific DNA bindingDNA-binding transcription factor activity, RNA polymerase II-specificregulation of transcription by RNA polymerase IInucleusCOVID-19severe acute respiratory syndromeprostate cancerPremature ovarian insufficiency
✦AI Summary

DACH2 (dachshund family transcription factor 2) is a DNA-binding transcription factor that plays critical roles in development and disease pathogenesis. During embryonic development, DACH2 functions in muscle development through synergistic interactions with EYA2 and SIX1 proteins, forming a conserved regulatory network originally identified in Drosophila eye development 1. DACH2 participates in a positive regulatory feedback loop with PAX3 in developing somites, where it regulates myogenic differentiation prior to expression of myogenic genes 1. The protein is expressed in embryonic nervous tissues, sensory organs, and limbs, with expression patterns similar to DACH1, suggesting partially redundant functions 2. Interestingly, DACH2 knockout mice are viable and fertile with grossly normal eye and brain development, unlike their Drosophila counterparts 3. In disease contexts, DACH2 has emerged as a significant biomarker. High DACH2 expression is associated with poor prognosis in epithelial ovarian cancer, particularly serous carcinomas, and correlates with cisplatin resistance 4. Similarly, DACH2 expression predicts metastasis and poor survival in muscle-invasive urothelial bladder carcinoma 5. DACH2 variants have also been implicated in premature ovarian insufficiency 6 and identified as a potential risk factor for Alzheimer's disease 7.

Sources cited
1
DACH2 synergistically regulates muscle development with EYA2 and participates in feedback loop with PAX3
PMID: 10617572
2
DACH2 expression pattern in embryonic tissues and similarity to DACH1
PMID: 11287190
3
DACH2 knockout mice are viable and fertile with normal development
PMID: 16470613
4
DACH2 is a poor prognosis biomarker in epithelial ovarian cancer and associated with cisplatin resistance
PMID: 22284433
5
DACH2 predicts metastasis and poor survival in muscle-invasive urothelial bladder carcinoma
PMID: 25744029
6
DACH2 variants implicated in premature ovarian insufficiency
PMID: 38649916
7
DACH2 identified as potential Alzheimer's disease risk factor
PMID: 39633006
Disease Associationsⓘ20
COVID-19Open Targets
0.26Weak
severe acute respiratory syndromeOpen Targets
0.26Weak
prostate cancerOpen Targets
0.23Weak
Premature ovarian insufficiencyOpen Targets
0.18Weak
idiopathic hypereosinophilic syndromeOpen Targets
0.04Suggestive
immunodeficiency 75Open Targets
0.03Suggestive
serous adenocarcinomaOpen Targets
0.03Suggestive
severe combined immunodeficiency due to DCLRE1C deficiencyOpen Targets
0.03Suggestive
Hepatic veno-occlusive disease - immunodeficiencyOpen Targets
0.03Suggestive
hepatic veno-occlusive disease-immunodeficiency syndromeOpen Targets
0.03Suggestive
Kimura diseaseOpen Targets
0.03Suggestive
autoinflammation with episodic fever and lymphadenopathyOpen Targets
0.03Suggestive
Matthew-Wood syndromeOpen Targets
0.03Suggestive
Meacham syndromeOpen Targets
0.03Suggestive
neoplasmOpen Targets
0.02Suggestive
glioblastoma multiformeOpen Targets
0.02Suggestive
lung carcinomaOpen Targets
0.02Suggestive
ataxia telangiectasiaOpen Targets
0.02Suggestive
ovarian cancerOpen Targets
0.02Suggestive
Alzheimer diseaseOpen Targets
0.01Suggestive
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar ↗
Related Genes
DACH1Protein interaction80%EYA2Protein interaction80%POF1BCo-mentioned in literature20%XPNPEP2Co-mentioned in literature20%
Tissue Expression6 tissues
Brain
100%
Ovary
11%
Bone Marrow
1%
Heart
0%
Lung
0%
Liver
0%
Gene Interaction Network
Click a node to explore
DACH2DACH1EYA2POF1BXPNPEP2
PROTEIN STRUCTURE
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AlphaFoldAI-predicted · UniProt Q96NX9
View on AlphaFold ↗
Constraintⓘ
LOEUFⓘ
0.71LoF Tolerant
pLIⓘ
0.02Tolerant
Observed/Expected LoF0.48 [0.33–0.71]
RankingsWhere DACH2 stands among ~20K protein-coding genes
  • #12,541of 20,598
    Most Researched27
  • #5,485of 17,882
    Most Constrained (LOEUF)0.71
Genes detectedDACH2
Sources retrieved10 papers
Response time—
📄 Sources
10▼
1
X-chromosome-wide association study for Alzheimer's disease.
PMID: 39633006
Mol Psychiatry · 2025
1.00
2
Screening of premature ovarian insufficiency associated genes in Hungarian patients with next generation sequencing.
PMID: 38649916
BMC Med Genomics · 2024
0.90
3
Sex chromosomes-linked single-gene disorders involved in human infertility.
PMID: 31402110
Eur J Med Genet · 2019
0.80
4
Mouse Dach2 mutants do not exhibit gross defects in eye development or brain function.
PMID: 16470613
Genesis · 2006
0.70
5
Discovery of dachshund 2 protein as a novel biomarker of poor prognosis in epithelial ovarian cancer.
PMID: 22284433
J Ovarian Res · 2012
0.60