CA2 Gene - Carbonic Anhydrase 2
Comprehensive genomic and proteomic analysis of the CA2 gene, its role in osteopetrosis, and therapeutic implications.
Gene Information Card
| Symbol | CA2 |
|---|---|
| Full Name | Carbonic anhydrase 2 |
| Gene Type | protein-coding |
| Chromosomal Location | 8q21.2 |
| NCBI Gene ID | 760 ncbi.nlm.nih.gov/gene/760 |
| Ensembl ID | ENSG00000104267 |
| UniProt ID | P00918 |
| OMIM ID | 611492 |
| HGNC ID | 1375 |
| Aliases | CA-II, CAC, CAII, Car2, HEL-76 |
Description
The CA2 gene encodes carbonic anhydrase 2, a zinc metalloenzyme that catalyzes the reversible hydration of carbon dioxide to bicarbonate and protons. This enzyme is critical for pH regulation, ion transport, and fluid secretion in various tissues including kidney, bone, and brain. Mutations in CA2 cause autosomal recessive osteopetrosis with renal tubular acidosis (carbonic anhydrase II deficiency syndrome).
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Osteopetrosis with renal tubular acidosis | Loss-of-function mutations in CA2 impair osteoclast-mediated bone resorption and renal acid-base balance | OMIM #259730 |
| Carbonic anhydrase II deficiency syndrome | Deficient enzyme activity leads to metabolic acidosis and osteopetrosis | ClinVar, multiple publications |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Kidney | 78.5 | High |
| Brain | 45.2 | Medium |
| Lung | 30.1 | Medium |
| Liver | 12.3 | Low |
| Spleen | 8.9 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK 293 | 62.4 | High expression |
| HeLa | 41.7 | Moderate expression |
| K562 | 22.1 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.232G>A (p.Gly78Arg) | Missense | Rare | Loss of catalytic activity |
| c.697C>T (p.Arg233Trp) | Missense | Rare | Reduced enzyme stability |
| c.1A>G (p.Met1?) | Start loss | Very rare | Complete loss of protein |
Mutation functional classification
Loss of Function (LOF)
Most CA2 mutations are loss-of-function, leading to carbonic anhydrase II deficiency.
Gain of Function (GOF)
No gain-of-function mutations reported.
Dominant Negative (DN)
No dominant-negative mutations reported.
View complete mutation data：
Gene Ontology (GO)
Pathways
• REACT:14797 - Carbonic anhydrase activity
• KEGG:00910 - Nitrogen metabolism
• KEGG:04964 - Proximal tubule bicarbonate reclamation
Protein Summary
Carbonic anhydrase 2 (CA2) is a 260-amino acid cytosolic enzyme with a zinc-binding active site. It is one of the most catalytically efficient enzymes known, with a turnover number of up to 10^6 s⁻¹. CA2 is widely expressed, particularly in kidney, bone, and brain, where it facilitates acid-base homeostasis. Deficiency due to CA2 mutations results in osteopetrosis and renal tubular acidosis.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| CA2 Knockout HEK293 Cell Line | EDJ-KQ4175 | Human | 760 | Details Get a Quote |
| CA2 Knockout A-549 Cell Line | EDJ-KQ26615 | Human | 760 | Details Get a Quote |
| CA2 Knockout HCT 116 Cell Line | EDJ-KQ26616 | Human | 760 | Details Get a Quote |
| CA2 Knockout HeLa Cell Line | EDJ-KQ26617 | Human | 760 | Details Get a Quote |
