HomeAboutRankingsData Sources
© 2026 GeneE
🧬
GeneE
10 sources retrieved · Most recent: April 2026 · Index updated 15 days ago
ⓘGeneE is for informational purposes only. It is not a substitute for professional medical advice, diagnosis, or treatment.
CLCA4
chloride channel accessory 4
Chromosome 1 · 1p22.3
NCBI Gene: 22802Ensembl: ENSG00000016602.10HGNC: HGNC:2018UniProt: Q14CN2
23PubMed Papers
20Diseases
0Drugs
0Pathogenic Variants
FUNCTIONAL ROLE
ProteaseTransporter
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
plasma membraneintracellularly calcium-gated chloride channel activitymetalloendopeptidase activitychloride channel activitycystic fibrosisautismcolorectal carcinomaneoplasm
✦AI Summary

CLCA4 (chloride channel accessory 4) functions as a calcium-activated chloride channel regulator that modulates ion transport across cell membranes. The protein is a self-cleaving metalloprotease that releases an N-terminal fragment containing a von Willebrand factor type A (VWA) domain, which is sufficient to potentiate calcium-dependent chloride currents 1. CLCA4 specifically interacts with TMEM16B channels, distinct from CLCA1's interaction with TMEM16A, demonstrating specificity in CLCA/TMEM16 protein family interactions 1. The gene shows tissue-specific expression patterns, with normal colonocytes expressing CLCA4 while small intestine enterocytes do not 2. In disease contexts, CLCA4 functions as a tumor suppressor in multiple cancers. Expression is frequently downregulated in colorectal cancer, with frameshift mutations occurring in 11.8% of microsatellite instability-high cases but not in microsatellite stable tumors 3. Loss of CLCA4 expression correlates with poor prognosis in colorectal cancer and hepatocellular carcinoma 45. Mechanistically, CLCA4 inhibits epithelial-to-mesenchymal transition via PI3K/AKT signaling, thereby suppressing cancer cell migration and invasion 5. The protein also shows associations with immune infiltration in colon adenocarcinoma 6.

Sources cited
1
CLCA4 is a self-cleaving metalloprotease with VWA domain that potentiates calcium-dependent chloride currents and specifically interacts with TMEM16B channels
PMID: 38825009
2
CLCA4 shows tissue-specific expression patterns with normal colonocytes expressing CLCA4 while small intestine enterocytes do not
PMID: 40220130
3
CLCA4 frameshift mutations occur in 11.8% of microsatellite instability-high colorectal cancers but not in microsatellite stable tumors
PMID: 32773719
4
Loss of CLCA4 expression correlates with poor prognosis in colorectal cancer
PMID: 32797167
5
CLCA4 functions as tumor suppressor by inhibiting epithelial-to-mesenchymal transition via PI3K/AKT signaling and correlates with poor prognosis in hepatocellular carcinoma
PMID: 30312171
6
CLCA4 shows associations with immune infiltration in colon adenocarcinoma
PMID: 39166522
Disease Associationsⓘ20
cystic fibrosisOpen Targets
0.39Weak
autismOpen Targets
0.11Weak
colorectal carcinomaOpen Targets
0.11Weak
neoplasmOpen Targets
0.09Suggestive
urinary bladder carcinomaOpen Targets
0.08Suggestive
hepatocellular carcinomaOpen Targets
0.08Suggestive
colorectal cancerOpen Targets
0.07Suggestive
corneal ulcerOpen Targets
0.06Suggestive
breast cancerOpen Targets
0.05Suggestive
esophageal squamous cell carcinomaOpen Targets
0.04Suggestive
breast carcinomaOpen Targets
0.04Suggestive
colorectal adenocarcinomaOpen Targets
0.04Suggestive
non-small cell lung carcinomaOpen Targets
0.04Suggestive
oral squamous cell carcinomaOpen Targets
0.03Suggestive
Crohn's diseaseOpen Targets
0.03Suggestive
hydronephrosisOpen Targets
0.02Suggestive
dysplasiaOpen Targets
0.02Suggestive
Hallux valgusOpen Targets
0.02Suggestive
open-angle glaucomaOpen Targets
0.02Suggestive
cancerOpen Targets
0.02Suggestive
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar ↗
Related Genes
CLCN4Shared pathway100%CLCA2Protein interaction84%ANO2Protein interaction83%CLCN5Shared pathway75%TTYH3Shared pathway75%CLCA1Protein interaction75%
Tissue Expression6 tissues
Brain
100%
Liver
9%
Ovary
5%
Lung
2%
Bone Marrow
2%
Heart
0%
Gene Interaction Network
Click a node to explore
CLCA4CLCN4CLCA2ANO2CLCN5TTYH3CLCA1
PROTEIN STRUCTURE
Preparing viewer…
AlphaFoldAI-predicted · UniProt Q14CN2
View on AlphaFold ↗
Constraintⓘ
LOEUFⓘ
1.08LoF Tolerant
pLIⓘ
0.00Tolerant
Observed/Expected LoF0.85 [0.68–1.08]
RankingsWhere CLCA4 stands among ~20K protein-coding genes
  • #13,391of 20,598
    Most Researched23
  • #10,936of 17,882
    Most Constrained (LOEUF)1.08
Genes detectedCLCA4
Sources retrieved10 papers
Response time—
📄 Sources
10▼
1
The impact of disease and species differences on the intestinal CLCA4 gene expression.
PMID: 40220130
J Mol Med (Berl) · 2025
1.00
2
Frameshift Mutations and Loss of Expression of CLCA4 Gene are Frequent in Colorectal Cancers With Microsatellite Instability.
PMID: 32773719
Appl Immunohistochem Mol Morphol · 2020
0.90
3
CLCA4 and MS4A12 as the significant gene biomarkers of primary colorectal cancer.
PMID: 32797167
Biosci Rep · 2020
0.80
4
Chloride Channel Accessory 4 (CLCA4) Gene Polymorphisms and Non-Obstructive Azoospermia: A Case-Control Study.
PMID: 30887952
Med Sci Monit · 2019
0.70
5
CLCA4 inhibits cell proliferation and invasion of hepatocellular carcinoma by suppressing epithelial-mesenchymal transition via PI3K/AKT signaling.
PMID: 30312171
Aging (Albany NY) · 2018
0.60