CA2 - carbonic anhydrase 2 Gene
Also Known as CAC; CAII; Car2; CA-II; HEL-76; HEL-S-282
Species: Homo sapiens
About CA2
This gene has 5 transcripts (splice variants), 285 orthologues, 14 paralogues and is associated with 3 phenotypes. Biased expression in stomach (RPKM 493.8), colon (RPKM 349.1) and 8 other tissues.
Summary
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]
CA2 Products (2)
| mRNA | Protein | Name |
|---|---|---|
| NM_001293675.2 | NP_001280604.1 | carbonic anhydrase 2 isoform 2 |
| NM_000067.3 | NP_000058.1 | carbonic anhydrase 2 isoform 1 |
| Molecular Function GO Annotation | Evidence | References | Source |
|---|---|---|---|
| enables arylesterase activity |
IMP
IMP: Inferred from mutant phenotype
|
3126084 | GOA |
| enables carbonate dehydratase activity |
IMP
IMP: Inferred from mutant phenotype
|
1336460 | GOA |
| enables protein binding |
IPI
IPI: Inferred from physical interaction
|
14736710 | GOA |
| enables zinc ion binding |
IDA
IDA: Inferred from direct assay
|
3151020 | GOA |
| Biological Process GO Annotation | Evidence | References | Source |
|---|---|---|---|
| involved in angiotensin-activated signaling pathway |
IDA
IDA: Inferred from direct assay
|
15990874 | GOA |
| involved in regulation of monoatomic anion transport |
IDA
IDA: Inferred from direct assay
|
15990874 | GOA |
| Cellular Component GO Annotation | Evidence | References | Source |
|---|---|---|---|
| located in apical part of cell |
IDA
IDA: Inferred from direct assay
|
14675051 | GOA |
| located in cytoplasm |
IDA
IDA: Inferred from direct assay
|
114507 | GOA |
| located in plasma membrane |
IDA
IDA: Inferred from direct assay
|
15990874 | GOA |
CA2 Protein Structure
Carb_anhydrase: Eukaryotic-type carbonic anhydrase (5 - 259)
- 0
- 100
- 200
- 260 a.a.
| Protein Preferred Names | Protein Names | |
|---|---|---|
|
carbonic anhydrase 2 |
|
|
Recombinant CA2 Proteins
| Cat. No. | Product Name | Accession | Purity |
|---|---|---|---|
| HY-P78746 | Carbonic Anhydrase 2 Protein, Human (HEK293, His) | NP_000058.1 (M1-K260) | ≥ 95%, as determined by reducing SDS-PAGE. |
CA2 Antibodies
| Cat. No. | Product Name | Application | Reactivity |
|---|---|---|---|
| HY-P83617 | Carbonic Anhydrase 2 Antibody (YA3362) | WB, IHC-P | Human, Mouse, Rat |
| HY-P83617A | Carbonic Anhydrase 2 Antibody (YA3362)(PBS only) | WB, IHC-P | Human, Mouse, Rat |
Related Diseases
| Diseases | Alias | |
|---|---|---|
| Distal Renal Tubular Acidosis |
|
|
| Osteopetrosis, Autosomal Recessive 3 |
|
|
| Autoimmune Hepatitis |
|
|
| Corneal Dystrophy, Band-Shaped |
|
|
| Primary Biliary Cholangitis |
|
|
| Pancreatitis |
|
|
| Sjogren Syndrome |
|
|
| Cholangitis |
|
|
| Multiple Cranial Nerve Palsy |
|
|
| Benign Giant Cell Tumor |
|
|
| Eye Disease |
|
|
| Osteopetrosis, Autosomal Dominant 2 |
|
|
| Deficiency Anemia |
|
|
| Glossopharyngeal Nerve Disease |
|
|
| Pancreatic Cancer |
|
|
| Endosteal Hyperostosis, Autosomal Dominant |
|
|
| Retinitis Pigmentosa |
|
|
| Intracranial Hypertension, Idiopathic |
|
|
| Hereditary Elliptocytosis |
|
|
| Ocular Hypertension |
|
|
| Intraocular Pressure Quantitative Trait Locus |
|
|
| Igg4-Related Disease |
|
|
| Osteoporosis |
|
|
| Cone-Rod Dystrophy 2 |
|
|
| Renal Tubular Transport Disease |
|
|
| Autoimmune Pancreatitis |
|
|
| Mikulicz Disease |
|
|
| Autoimmune Cholangitis |
|
|
| Renal Tubular Acidosis |
|
|
| Nephrocalcinosis |
|
|
| Subacute Lymphocytic Thyroiditis |
|
|
| Osteopetrosis |
|
|
| Breast Cancer |
|
|
| Metabolic Acidosis |
|
Orthologs Information
| Species | Symbol | Source | ID |
|---|---|---|---|
| Canis familiaris | CA2 | VGNC | VGNC:38610 |
| Rattus norvegicus | CA2 | RGD | RGD:2240 |
| Felis catus | CA2 | VGNC | VGNC:60250 |
| Mus musculus | CA2 | MGD | MGI:88269 |
| Macaca mulatta | CA2 | VGNC | VGNC:70490 |
| Others | CA2 | NCBI |