CLCA4: Chloride Channel Accessory 4
A calcium-activated chloride channel regulator implicated in epithelial function and cancer
Gene Information Card
| Symbol | CLCA4 |
|---|---|
| Full Name | Chloride Channel Accessory 4 |
| Gene Type | Protein coding |
| Chromosomal Location | 1p22.3 |
| NCBI Gene ID | 22802 ncbi.nlm.nih.gov/gene/22802 |
| Ensembl ID | ENSG00000116679 |
| UniProt ID | Q14CN2 |
| OMIM ID | 606404 |
| HGNC ID | 2018 |
| Aliases | CaCC, CLCA4, hCLCA4 |
Description
CLCA4 (Chloride Channel Accessory 4) encodes a member of the calcium-activated chloride channel regulator family. The protein is involved in chloride ion transport, mucus production, and epithelial homeostasis. It is predominantly expressed in secretory epithelial tissues and has been implicated in cystic fibrosis, asthma, and colorectal cancer.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Colorectal cancer | Downregulation of CLCA4 is associated with tumor progression and poor prognosis; may act as a tumor suppressor via modulation of chloride transport and cell adhesion. | PMID: 25605247; COSMIC |
| Cystic fibrosis | CLCA4 expression is altered in CF airway epithelium, potentially affecting mucus viscosity and chloride secretion. | PMID: 15128651; NCBI Gene |
| Asthma | CLCA4 is upregulated in asthmatic airways and may contribute to mucus hypersecretion and airway remodeling. | PMID: 15128651; NCBI Gene |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Colon | 12.5 | Medium |
| Trachea | 8.3 | Medium |
| Lung | 6.1 | Low |
| Small intestine | 5.4 | Low |
| Prostate | 4.2 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| Caco-2 | 15.0 | Colorectal adenocarcinoma cell line |
| HT-29 | 10.2 | Colorectal adenocarcinoma cell line |
| A549 | 3.5 | Lung carcinoma cell line |
| HBE | 2.1 | Normal bronchial epithelial cells |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1015C>T (p.Arg339*) | Nonsense | <0.01% (COSMIC) | Loss of function; truncation of protein |
| c.1234G>A (p.Gly412Ser) | Missense | <0.01% (COSMIC) | Unknown; predicted benign by SIFT |
| c.1789_1790insA | Frameshift | <0.01% (COSMIC) | Loss of function; frameshift and premature stop |
Mutation functional classification
Loss of Function (LOF)
Nonsense and frameshift mutations (e.g., p.Arg339*, c.1789_1790insA) lead to truncated or non-functional protein, consistent with tumor suppressor role.
Gain of Function (GOF)
No gain-of-function mutations reported in CLCA4.
Dominant Negative (DN)
No dominant-negative mutations reported in CLCA4.
View complete mutation data：
Gene Ontology (GO)
| • calcium activated cation channel activity (GO:0005227) | • chloride transport (GO:0006821) |
| • apical plasma membrane (GO:0016324) | • lung development (GO:0030324) |
| • extracellular exosome (GO:0070062) |
Pathways
• Calcium signaling pathway (KEGG: hsa04020)
• Chloride channel activity (Reactome: R-HSA-983712)
Protein Summary
CLCA4 is a 943-amino acid transmembrane protein that functions as a calcium-activated chloride channel regulator. It is localized to the apical plasma membrane of epithelial cells and is involved in chloride ion conductance, mucus secretion, and cell adhesion. The protein contains a von Willebrand factor type A domain and is cleaved into two subunits. CLCA4 is frequently downregulated in colorectal cancer, suggesting a tumor suppressor function.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| CLCA4 Knockout HEK293 Cell Line | EDJ-KQ7677 | Human | 22802 | Details Get a Quote |
| CLCA4 Knockout HeLa Cell Line | EDJ-KQ55639 | Human | 22802 | Details Get a Quote |
| CLCA4 Knockout A-549 Cell Line | EDJ-KQ64137 | Human | 22802 | Details Get a Quote |
| CLCA4 Knockout HCT 116 Cell Line | EDJ-KQ72584 | Human | 22802 | Details Get a Quote |
Displaying Records 1 To 4 Of 4 Records
