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].

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Name
OMIM ID
Ensembl ID
HGNC ID
PHARMGKB ID
Map Location
OMIM IDMIM:611492
PHARMGKB IDPA25989
Map Location8q21.2

Gene Categories:

DRUGGABLE GENOME

GO terms in CA2


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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
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Gene expression in normal tissue: CA2

16 tissues mixtureadiposeadrenalbrainbreastcolonheartkidneyliverlunglymph nodeovaryprostateskeletal muscletestesthyroidwhite blood cells

Gene-model tissue-cancer distribution: Bubble Plot

undefinetissue: undefine cancer: undefined model num: 0undefinedtissue: undefined cancer: PANCAN model num: 2

Gene-drug pathway distribution

ERK MAPK signaling1

Pathways in CA2


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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
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Gene-Drug: Aster Plot


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Drug ID
Drug Name
Model Num.
iGMDRD353 PD0325901 2
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Gene in drug-gene network: Network Plot

Gene-drug targets distribution

Gene Structure: PDB

Models in CA2

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Model
Level
Reference ID
Tissue
Cancer
Drug
Clinical Response
Source
No matching records found

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