CA2 Gene Summary [Human]
The protein encoded by this gene is one of several isozymes of carbonic anhydrase, which catalyzes reversible hydration of carbon dioxide. Defects in this enzyme are associated with osteopetrosis and renal tubular acidosis. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jun 2014]
Details
| Type | Protein Coding |
| Official Symbol | CA2 |
| Official Name | carbonic anhydrase 2 [Source:HGNC Symbol;Acc:HGNC:1373] |
| Ensembl ID | ENSG00000104267 |
| Bio databases IDs | |
| Aliases | carbonic anhydrase 2 |
| Synonyms | CAC, CA-II, CAR2, Carbonic anhydrase 2, Carbonic anhydrase II, carbonic anhydrase isozyme II, HEL-76, HEL-S-282, Ltw-5, Lvtw-5 |
| Species | Human, Homo sapiens |
| Orthologies |
Protein Domains
A protein domain is a distinct structural or functional region within a protein that can evolve, function, and exist independently of the rest of the protein chain. These domains in human CA2 often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- zinc ion binding
- carbonate dehydratase
- Eukaryotic-type carbonic anhydrase
- alpha_CA
- enzyme
- protein binding
- arylesterase
Top Findings
The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
- gastric adenocarcinoma
- tonic-clonic seizure
- seizures
- epilepsy
- cardiovascular disorder
- disorder of coronary artery
- polycystic ovary syndrome
- cocaine dependence
- anxiety disorder
- post-traumatic stress disorder
role in cell
- hypertrophy
- survival
- beat
- differentiation
- motility
- velocity
- homeostasis
- homeostasis in
Subcellular Expression
Locations within the cell where the protein is known or predicted to be active, providing insight into its function and cellular context.
- Cytoplasm
- myelin enriched fraction
- Extracellular Space
- apical compartment
- cellular membrane
- Nucleus
- Plasma Membrane
- cytosol
- basolateral membrane
- myelin sheath
- brush border
- microvilli
- axons
- exosomes
- plasma
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human CA2 gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- secretion
- positive regulation of synaptic transmission, GABAergic
- carbon dioxide transport
- angiotensin-mediated signaling pathway
- positive regulation of dipeptide transmembrane transport
- one-carbon metabolic process
- neuron homeostasis
- regulation of intracellular pH
- morphogenesis of an epithelium
- positive regulation of cellular pH reduction
- regulation of chloride transport
- regulation of anion transport
Cellular Component
Where in the cell the gene product is active
- myelin sheath
- extracellular vesicular exosome
- apical part of cell
- cytoplasm
- cytosol
- plasma membrane
Molecular Function
What the gene product does at the molecular level
- zinc ion binding
- protein binding
- arylesterase activity
- carbonate dehydratase activity
- cyanamide hydratase activity