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GeneE
10 sources retrieved · Most recent: April 2026 · Index updated 14 days ago
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DACH1
dachshund family transcription factor 1
Chromosome 13 · 13q21.33
NCBI Gene: 1602Ensembl: ENSG00000276644.5HGNC: HGNC:2663UniProt: Q9UI36
127PubMed Papers
20Diseases
0Drugs
0Pathogenic Variants
FUNCTIONAL ROLE
Transcription Factor
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
negative regulation of DNA-templated transcriptionnegative regulation of DNA biosynthetic processDNA-binding transcription repressor activity, RNA polymerase II-specificnucleoplasmgouthypertensionneurodegenerative diseasealcohol drinking
✦AI Summary

DACH1 is a transcription factor that regulates organogenesis and cell fate determination through multiple molecular mechanisms. As a DNA-binding transcriptional regulator, DACH1 controls cell proliferation and differentiation by modulating the SIX1/SIX6 pathway and inhibiting TGF-beta signaling via SMAD4 interaction 1. In bone biology, endothelial-specific DACH1 overexpression induces specialized type R capillaries that facilitate bone remodeling and trabecular bone formation by creating metabolic microenvironments supporting osteoprogenitors and osteoclasts 2. DACH1 has significant disease relevance in kidney fibrosis pathogenesis. Genome-wide and transcriptome-wide association studies identified DACH1 as a kidney disease risk gene, with GWAS variants reducing DACH1 expression in kidney tubules 1. Tubule-specific Dach1 deletion exacerbates renal fibrosis in both folic acid and diabetic kidney injury models, while overexpression provides protection by regulating cell cycle genes and myeloid chemotactic factors that control macrophage infiltration 1. Additionally, DACH1 variants associate with rates of brain structural changes across the lifespan and show genetic overlap with depression, schizophrenia, and cognitive functioning 3. These findings position DACH1 as a key regulator linking developmental and metabolic processes to organ homeostasis and disease susceptibility.

Sources cited
1
DACH1 identified as kidney disease risk gene; GWAS variants reduce DACH1 expression; tubule-specific deletion worsens renal fibrosis; overexpression protects from kidney injury by regulating cell cycle and chemotactic factors
PMID: 33998598
2
Endothelial DACH1 overexpression induces type R capillaries that facilitate bone remodeling and trabecular bone formation
PMID: 39528700
3
DACH1 variants associated with rates of brain structural changes across lifespan; shows genetic overlap with depression, schizophrenia, and cognitive functioning
PMID: 35383335
⚠Limited data available — This gene has 3 indexed publications. Summary and analysis may be incomplete.
Disease Associationsⓘ20
goutOpen Targets
0.49Moderate
hypertensionOpen Targets
0.48Moderate
neurodegenerative diseaseOpen Targets
0.46Moderate
alcohol drinkingOpen Targets
0.44Moderate
smoking initiationOpen Targets
0.40Moderate
response to xenobiotic stimulusOpen Targets
0.37Weak
placenta praeviaOpen Targets
0.34Weak
diabetes mellitusOpen Targets
0.33Weak
type 2 diabetes mellitusOpen Targets
0.33Weak
chronic kidney diseaseOpen Targets
0.33Weak
diabetic neuropathyOpen Targets
0.32Weak
potassium deficiency diseaseOpen Targets
0.32Weak
restless legs syndromeOpen Targets
0.29Weak
Genu varumOpen Targets
0.29Weak
muscle crampOpen Targets
0.28Weak
Genu valgumOpen Targets
0.27Weak
response to stimulusOpen Targets
0.27Weak
spondylolisthesisOpen Targets
0.27Weak
ovarian dysfunctionOpen Targets
0.26Weak
musculoskeletal system diseaseOpen Targets
0.26Weak
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar ↗
Related Genes
JUNProtein interaction99%PAX3Protein interaction96%EYA2Protein interaction95%SMAD4Protein interaction93%SIX6Protein interaction88%EYA1Protein interaction88%
Tissue Expression6 tissues
Bone Marrow
100%
Brain
33%
Heart
15%
Lung
15%
Liver
6%
Ovary
3%
Gene Interaction Network
Click a node to explore
DACH1JUNPAX3EYA2SMAD4SIX6EYA1
PROTEIN STRUCTURE
Preparing viewer…
PDB1L8R · 1.65 Å · X-ray
View on RCSB ↗
Constraintⓘ
LOEUFⓘ
0.37Moderately Constrained
pLIⓘ
1.00Intolerant
Observed/Expected LoF0.22 [0.14–0.37]
RankingsWhere DACH1 stands among ~20K protein-coding genes
  • #3,684of 20,598
    Most Researched127 · top quartile
  • #1,720of 17,882
    Most Constrained (LOEUF)0.37 · top 10%
Genes detectedDACH1
Sources retrieved10 papers
Response time—
📄 Sources
10▼
1
Autoimmune Encephalitis Misdiagnosis in Adults.
PMID: 36441519
JAMA Neurol · 2023
1.00
2
Specialized post-arterial capillaries facilitate adult bone remodelling.
PMID: 39528700
Nat Cell Biol · 2024
0.90
3
Neurological adverse events of immune checkpoint inhibitors and the development of paraneoplastic neurological syndromes.
PMID: 38101905
Lancet Neurol · 2024
0.80
4
Genetic variants associated with longitudinal changes in brain structure across the lifespan.
PMID: 35383335
Nat Neurosci · 2022
0.70
5
Transcriptome-wide association analysis identifies DACH1 as a kidney disease risk gene that contributes to fibrosis.
PMID: 33998598
J Clin Invest · 2021
0.60