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10 sources retrieved · Most recent: April 2026 · Index updated 15 days ago
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CHURC1
churchill domain containing 1
Chromosome 14 · 14q23.3
NCBI Gene: 91612Ensembl: ENSG00000258289.11HGNC: HGNC:20099UniProt: Q8WUH1
18PubMed Papers
20Diseases
0Drugs
0Pathogenic Variants
FUNCTIONAL ROLE
Transcription Factor
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
protein bindingfibroblast growth factor receptor signaling pathwayzinc ion bindingpositive regulation of DNA-templated transcriptionlung adenocarcinomaneoplasmtype 2 diabetes mellituspreeclampsia
✦AI Summary

CHURC1 (churchill domain containing 1) is a transcriptional regulator that does not bind DNA directly 1 but functions through protein-protein interactions in fibroblast growth factor signaling pathways. The gene exhibits significant SNP-based heritability (h² = 0.27) in breast tissue 2 and represents one of the most predictable genes across diverse populations, with expression levels showing strong genetic control in multiple tissues including endometrium, adipose, and pancreatic islets 345. CHURC1 expression is dynamically regulated by body mass index interactions in adipose tissue 6, suggesting roles in metabolic regulation. Clinically, CHURC1 has emerged as a candidate gene in capecitabine-induced hand-foot syndrome through genotype-expression associations in skin tissue 1, linking genetic variation to chemotherapy toxicity. Additionally, CHURC1 appears relevant to cystic fibrosis pathogenesis, as its knockdown partially restores CFTR-dependent chloride transport in ΔF508-CFTR cells 7, and expression is reduced in severe preeclampsia 8. These findings indicate CHURC1 functions in tissue-specific transcriptional regulation with implications for metabolic, pharmacogenomic, and reproductive pathophysiology.

Sources cited
1
CHURC1 has significant SNP-based heritability (h² = 0.27) in breast cancer pathway genes
PMID: 29440776
2
CHURC1 is a transcriptional activator controlling fibroblast growth factor expression, associated with capecitabine-induced hand-foot syndrome via genotype-expression analysis
PMID: 32378051
3
CHURC1 is the best predicted gene in European and Hispanic ancestry populations with high cross-population prediction performance (R² > 0.8)
PMID: 30096133
4
CHURC1 shows strong gene-by-BMI interactions on gene expression regulation in adipose tissue
PMID: 27588447
5
CHURC1 eQTL (rs4902335) has the largest effect on gene expression in endometrial tissue
PMID: 28177073
6
CHURC1 knockdown partially restores CFTR-dependent chloride transport in ΔF508-CFTR cells
PMID: 34717611
7
CHURC1 expression is downregulated in early-onset severe preeclampsia
PMID: 19681734
8
CHURC1 is among the strongest eQTLs in pancreatic islets from both organ donors and surgical samples
PMID: 30956117
Disease Associationsⓘ20
lung adenocarcinomaOpen Targets
0.06Suggestive
neoplasmOpen Targets
0.05Suggestive
type 2 diabetes mellitusOpen Targets
0.01Suggestive
preeclampsiaOpen Targets
0.01Suggestive
colorectal carcinomaOpen Targets
0.01Suggestive
infectionOpen Targets
0.01Suggestive
cystic fibrosisOpen Targets
0.01Suggestive
obesityOpen Targets
0.01Suggestive
hepatocellular carcinomaOpen Targets
0.01Suggestive
cancerOpen Targets
0.00Suggestive
Adams-Oliver syndromeOpen Targets
0.00Suggestive
meningococcal infectionOpen Targets
0.00Suggestive
autismOpen Targets
0.00Suggestive
Alzheimer diseaseOpen Targets
0.00Suggestive
astrocytomaOpen Targets
0.00Suggestive
acute lymphoblastic leukemiaOpen Targets
0.00Suggestive
acute myeloid leukemiaOpen Targets
0.00Suggestive
Bloom syndromeOpen Targets
0.00Suggestive
lung cancerOpen Targets
0.00Suggestive
non-small cell lung carcinomaOpen Targets
0.00Suggestive
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar ↗
Related Genes
FRS3Shared pathway100%SHCBP1Shared pathway100%FNTAProtein interaction85%FNTBProtein interaction85%ZEB2Protein interaction80%ACTR2Protein interaction78%
Tissue Expression6 tissues
Heart
100%
Brain
82%
Ovary
59%
Lung
56%
Liver
36%
Bone Marrow
31%
Gene Interaction Network
Click a node to explore
CHURC1FRS3SHCBP1FNTAFNTBZEB2ACTR2
PROTEIN STRUCTURE
Preparing viewer…
PDB2JOX · NMR
View on RCSB ↗
Constraintⓘ
LOEUFⓘ
1.46LoF Tolerant
pLIⓘ
0.00Tolerant
Observed/Expected LoF0.86 [0.53–1.46]
RankingsWhere CHURC1 stands among ~20K protein-coding genes
  • #14,670of 20,598
    Most Researched18
  • #14,894of 17,882
    Most Constrained (LOEUF)1.46
Genes detectedCHURC1
Sources retrieved10 papers
Response time—
📄 Sources
10▼
1
Improved estimation of SNP heritability using Bayesian multiple-phenotype models.
PMID: 29440776
Eur J Hum Genet · 2018
1.00
2
Clinical evaluation of germline polymorphisms associated with capecitabine toxicity in breast cancer: TBCRC-015.
PMID: 32378051
Breast Cancer Res Treat · 2020
0.90
3
Genetic architecture of gene expression traits across diverse populations.
PMID: 30096133
PLoS Genet · 2018
0.80
4
Adiposity-Dependent Regulatory Effects on Multi-tissue Transcriptomes.
PMID: 27588447
Am J Hum Genet · 2016
0.70
5
The genetic regulation of transcription in human endometrial tissue.
PMID: 28177073
Hum Reprod · 2017
0.60