CLCA2: Calcium-Activated Chloride Channel Regulator 2
A multifunctional gene involved in epithelial differentiation, tumor suppression, and cellular adhesion.
Gene Information Card
| Symbol | CLCA2 |
|---|---|
| Full Name | Calcium-Activated Chloride Channel Regulator 2 |
| Gene Type | Protein coding |
| Chromosomal Location | 1p22.3 |
| NCBI Gene ID | 9635 ncbi.nlm.nih.gov/gene/9635 |
| Ensembl ID | ENSG00000137975 |
| UniProt ID | Q9UQC9 |
| OMIM ID | 604003 |
| HGNC ID | 2016 |
| Aliases | CLCA2, CACC, CaCC-2, CLCA2_HUMAN |
Description
CLCA2 (Calcium-Activated Chloride Channel Regulator 2) is a protein-coding gene located on chromosome 1p22.3. It encodes a member of the calcium-sensitive chloride conductance protein family. CLCA2 functions as a regulator of chloride ion transport, cell adhesion, and epithelial differentiation. It is frequently downregulated in various cancers, suggesting a tumor suppressor role. The protein is also involved in the maintenance of epithelial barrier integrity and may modulate cellular responses to oxidative stress.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Breast Cancer | Loss of CLCA2 expression correlates with increased metastasis and poor prognosis; re-expression suppresses tumor growth and invasion. | PMID: 15626734, PMID: 19029980 |
| Lung Cancer | Reduced CLCA2 expression in non-small cell lung cancer (NSCLC) is associated with epithelial-mesenchymal transition (EMT) and invasive phenotype. | PMID: 23327923 |
| Colorectal Cancer | CLCA2 promoter hypermethylation leads to gene silencing, contributing to tumor progression. | PMID: 21947009 |
| Cystic Fibrosis | CLCA2 may modulate chloride secretion in airway epithelia, potentially influencing CFTR function. | PMID: 15159450 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Lung | 15.2 | Medium |
| Trachea | 22.8 | High |
| Mammary Gland | 8.5 | Low |
| Colon | 6.3 | Low |
| Prostate | 4.1 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| A549 (Lung adenocarcinoma) | 12.5 | Moderate expression |
| MCF7 (Breast cancer) | 2.1 | Low expression |
| HCT116 (Colorectal carcinoma) | 5.8 | Low expression |
| HEK293 (Embryonic kidney) | 0.9 | Very low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1015C>T (p.Arg339Trp) | Missense | <0.01% | Unknown functional impact |
| c.1246G>A (p.Gly416Ser) | Missense | <0.01% | Reported in COSMIC; potential loss of function |
| c.1573_1574del (p.Leu525fs) | Frameshift | <0.01% | Predicted loss of function |
Mutation functional classification
Loss of Function (LOF)
Frameshift and nonsense mutations leading to truncated protein or nonsense-mediated decay are classified as loss-of-function. Missense variants in conserved domains may also impair protein function.
Gain of Function (GOF)
No gain-of-function mutations have been reported for CLCA2.
Dominant Negative (DN)
No dominant-negative mutations have been characterized for CLCA2.
View complete mutation data：
Gene Ontology (GO)
| • calcium-activated chloride channel activity (GO:0005227) | • plasma membrane (GO:0005886) |
| • cell adhesion (GO:0007155) | • signal transduction (GO:0007165) |
| • cell differentiation (GO:0030154) | • chloride transmembrane transport (GO:0044550) |
Pathways
• Calcium signaling pathway (KEGG: hsa04020)
• Epithelial cell signaling in Helicobacter pylori infection (KEGG: hsa05120)
• Cell adhesion molecules (CAMs) (KEGG: hsa04514)
Protein Summary
The CLCA2 protein is a 943-amino acid transmembrane protein with a cleaved N-terminal signal peptide. It localizes to the plasma membrane and functions as a regulator of calcium-activated chloride conductance. The protein contains a von Willebrand factor type A (vWA) domain, which mediates cell adhesion and integrin binding. CLCA2 is involved in epithelial differentiation and acts as a tumor suppressor in breast, lung, and colorectal cancers. Its expression is often silenced by promoter methylation in tumors.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| CLCA2 Knockout HEK293 Cell Line | EDJ-KQ6668 | Human | 9635 | Details Get a Quote |
| CLCA2 Knockout HeLa Cell Line | EDJ-KQ55214 | Human | 9635 | Details Get a Quote |
| CLCA2 Knockout A-549 Cell Line | EDJ-KQ63697 | Human | 9635 | Details Get a Quote |
| CLCA2 Knockout HCT 116 Cell Line | EDJ-KQ72158 | Human | 9635 | Details Get a Quote |
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