CA2 (Carbonic anhydrase 2) variants and mutations

CA2 (also known as Carbonic anhydrase 2) is a human protein-coding gene encoding a carbonic anhydrase 2 protein. It rapidly interconverts carbon dioxide and bicarbonate, supporting acid-base balance, renal acidification, respiration, bone remodeling, and fluid secretion. Biallelic loss-of-function variants cause carbonic anhydrase II deficiency, with osteopetrosis, renal tubular acidosis, and cerebral calcification. This analysis covers 455 CA2 variants and mutations. Of these, 95% have computational variant effect predictions. Disease context includes Osteopetrosis with renal tubular acidosis, autosomal recessive osteopetrosis 3, and glaucoma. Example CA2 variants include M1R, S2Y, and S2T.

Variant analysis overview

Variant and mutation evidence

Clinical, disease, and population context

Protein structure and variant hotspots

Data sources

Evidence in this analysis draws on EBI Proteins Variation, UniProt, gnomAD v4, EuropePMC, 3D Hotspot Analysis, Interaction Network Analysis, Protein Data Bank, AlphaFold DB, gnomAD constraint, Open Targets, MaveDB, LitVar.

Notable CA2 variants

Examples include M1R, S2Y, S2T, S2S, H3Y, H3N, H3L, H3R. Listed records include available protein-change notation, database identifiers, clinical classifications, computational predictions, population evidence, experimental measurements, and disease context.