AlphaFold predicted structure
CA2 · P00918
Mean pLDDT
97.4/ 100
Very high
260 residues
Confidence breakdown
- Very high(≥ 90)99%
- Confident(70–90)0%
- Low(50–70)1%
- Very low(< 50)0%
Open interactive 3D viewer
AlphaFold (Jumper et al., 2021) · CC BY 4.0
CA2
Chr 8q21.2carbonic anhydrase 2
- Aliases:
- Car2, CA-II, CAII
- MANE:
- ENST00000285379.10
Annotations refreshed 1 month ago.
Predicted protein structure
Clinical relevance (Genomics England PanelApp)
Diagnostic Grade (Green)
DDG2P
BIALLELIC, autosomal or pseudoautosomalFetal anomalies
BIALLELIC, autosomal or pseudoautosomalIntellectual disability
BIALLELIC, autosomal or pseudoautosomalNephrocalcinosis or nephrolithiasis
BIALLELIC, autosomal or pseudoautosomalOsteopetrosis
BIALLELIC, autosomal or pseudoautosomalRenal tubulopathies
BIALLELIC, autosomal or pseudoautosomalSkeletal dysplasia
BIALLELIC, autosomal or pseudoautosomal
Disease associations (Open Targets)
Osteopetrosis with renal tubular acidosis
0.79autosomal recessive osteopetrosis 3
0.78glaucoma
0.61epilepsy
0.61ocular hypertension
0.61open-angle glaucoma
0.60Seizure
0.59angle-closure glaucoma
0.59altitude sickness
0.59edema
0.59
Score is the Open Targets composite evidence score (0-1). Higher = stronger gene-disease association.
Protein function (UniProt)
Carbonic anhydrase 2
Catalyzes the reversible hydration of carbon dioxide (PubMed:11327835, PubMed:11802772, PubMed:11831900, PubMed:12056894, PubMed:12171926, PubMed:1336460, PubMed:14736236, PubMed:15300855, PubMed:15453828, PubMed:15667203, PubMed:15865431, PubMed:16106378, PubMed:16214338, PubMed:16290146, PubMed:16686544, PubMed:16759856, PubMed:16807956, PubMed:17127057, PubMed:17251017, PubMed:17314045, PubMed:17330962, PubMed:17346964, PubMed:17540563, PubMed:17588751, PubMed:17705204, PubMed:18024029, PubMed:18162396, PubMed:18266323, PubMed:18374572, PubMed:18481843, PubMed:18618712, PubMed:18640037, PubMed:18942852, PubMed:1909891, PubMed:1910042, PubMed:19170619, PubMed:19186056, PubMed:19206230, PubMed:19520834, PubMed:19778001, PubMed:7761440, PubMed:7901850, PubMed:8218160, PubMed:8262987, PubMed:8399159, PubMed:8451242, PubMed:8485129, PubMed:8639494, PubMed:9265618, PubMed:9398308). Can also hydrate cyanamide to urea (PubMed:10550681, PubMed:11015219). Stimulates the chloride-bicarbonate exchange activity of SLC26A6 (PubMed:15990874). Essential for bone resorption and osteoclast differentiation (PubMed:15300855). Involved in the regulation of fluid secretion into the anterior chamber of the eye. Contributes to intracellular pH regulation in the duodenal upper villous epithelium during proton-coupled peptide absorption
Diseases associated with CA2
Curated MONDO disease pages that list CA2 among their top associated genes.