CA2
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].
| Name | OMIM ID | Ensembl ID | HGNC ID | PHARMGKB ID | Map Location |
|---|---|---|---|---|---|
| carbonic anhydrase 2 | MIM:611492 | Ensembl:ENSG00000104267 | HGNC:HGNC:1373 | PA25989 | 8q21.2 |
Gene Categories:
DRUGGABLE GENOMEGO terms in CA2
| Term Type | Evidence Type | GO Term ID | GO Des. |
|---|---|---|---|
| BP | IEA | GO:0001822 | kidney development |
| BP | IEA | GO:0002009 | morphogenesis of an epithelium |
| BP | IEA | GO:0009268 | response to pH |
| BP | IEA | GO:0010043 | response to zinc ion |
| BP | IEA | GO:0015670 | carbon dioxide transport |
| BP | TAS | GO:0015701 | bicarbonate transport |
| BP | IEA | GO:0032230 | positive regulation of synaptic transmission, GABAergic |
| BP | IEA | GO:0032849 | positive regulation of cellular pH reduction |
| BP | IDA | GO:0038166 | angiotensin-activated signaling pathway |
| BP | IEA | GO:0042475 | odontogenesis of dentin-containing tooth |
| BP | IEA | GO:0043627 | response to estrogen |
| BP | IDA | GO:0044070 | regulation of anion transport |
| BP | IEA | GO:0045672 | positive regulation of osteoclast differentiation |
| BP | IEA | GO:0045780 | positive regulation of bone resorption |
| BP | IEA | GO:0046903 | secretion |
| BP | IEA | GO:0048545 | response to steroid hormone |
| BP | ISS | GO:0051453 | regulation of intracellular pH |
| BP | IEA | GO:0071498 | cellular response to fluid shear stress |
| BP | ISS | GO:2001150 | positive regulation of dipeptide transmembrane transport |
| BP | IEA | GO:2001225 | regulation of chloride transport |
| CC | IDA | GO:0005737 | cytoplasm |
| CC | TAS | GO:0005829 | cytosol |
| CC | IDA | GO:0005886 | plasma membrane |
| CC | IEA | GO:0005902 | microvillus |
| CC | IEA | GO:0016323 | basolateral plasma membrane |
| CC | IEA | GO:0030424 | axon |
| CC | IEA | GO:0043209 | myelin sheath |
| CC | IDA | GO:0045177 | apical part of cell |
| CC | HDA | GO:0070062 | extracellular exosome |
| MF | IMP | GO:0004064 | arylesterase activity |
| MF | IMP | GO:0004089 | carbonate dehydratase activity |
| MF | TAS | GO:0004089 | carbonate dehydratase activity |
| MF | IPI | GO:0005515 | protein binding |
| MF | IDA | GO:0008270 | zinc ion binding |
Gene expression in normal tissue: CA2
Gene-model tissue-cancer distribution: Bubble Plot
Gene-drug pathway distribution
Pathways in CA2
| Database | Pathway ID | Pathway Des. |
|---|---|---|
| reactome | R-HSA-1237044 | Erythrocytes take up carbon dioxide and release oxygen |
| reactome | R-HSA-1247673 | Erythrocytes take up oxygen and release carbon dioxide |
| reactome | R-HSA-1430728 | Metabolism |
| reactome | R-HSA-1475029 | Reversible hydration of carbon dioxide |
| reactome | R-HSA-1480926 | O2/CO2 exchange in erythrocytes |
| reactome | R-HSA-382551 | Transport of small molecules |
| kegg | hsa00910 | Nitrogen metabolism - Homo sapiens (human) |
| kegg | hsa04964 | Proximal tubule bicarbonate reclamation - Homo sapiens (human) |
| kegg | hsa04966 | Collecting duct acid secretion - Homo sapiens (human) |
| kegg | hsa04971 | Gastric acid secretion - Homo sapiens (human) |
| kegg | hsa04972 | Pancreatic secretion - Homo sapiens (human) |
| kegg | hsa04976 | Bile secretion - Homo sapiens (human) |
Gene in drug-gene network: Network Plot
Gene-drug targets distribution
Gene Structure: PDB
Models in CA2
CLASSFICATION
Copyright © 2018 Modellab | All Rights Reserved
Disclaimer: iGMDR is intended for research purposes only. Its information cannot be used for emergencies or medical or professional advice.