human carbonic anhydrase II

URI: https://gptkb.org/entity/human_carbonic_anhydrase_II

GPTKB entity

Statements (50)

Predicate	Object
gptkbp:instanceOf	gptkb:enzyme
gptkbp:activeSiteResidue	histidine
gptkbp:alternativeName	gptkb:carbonate_dehydratase_II CA-II
gptkbp:associatedWith	gptkb:osteopetrosis renal tubular acidosis
gptkbp:clinical_use	target for diuretics target for glaucoma drugs
gptkbp:cofactor	zinc
gptkbp:discoveredBy	1932
gptkbp:EC_number	4.2.1.1
gptkbp:Entrez_Gene_ID	760 ENSG00000104267
gptkbp:expressedIn	gptkb:osteoclasts erythrocytes renal tubules gastrointestinal mucosa
gptkbp:function	catalyzes the reversible hydration of carbon dioxide
gptkbp:gene	gptkb:CA2
https://www.w3.org/2000/01/rdf-schema#label	human carbonic anhydrase II
gptkbp:inhibitedBy	gptkb:acetazolamide gptkb:methazolamide gptkb:dorzolamide
gptkbp:isoelectric_point	7.6
gptkbp:length	260 amino acids
gptkbp:locatedOnChromosome	gptkb:chromosome_8q21.2
gptkbp:location	gptkb:cytoplasm
gptkbp:molecularWeight	29 kDa
gptkbp:mutationAssociatedWith	can cause autosomal recessive osteopetrosis can cause renal tubular acidosis with cerebral calcification
gptkbp:OMIM	611492
gptkbp:organism	gptkb:Homo_sapiens
gptkbp:PDB	gptkb:1CA2
gptkbp:product	gptkb:proton bicarbonate
gptkbp:proteinFamily	gptkb:carbonic_anhydrase_family
gptkbp:RefSeq	NP_000058.1
gptkbp:structure	monomer
gptkbp:subcellularLocation	cytosol
gptkbp:substrate	gptkb:water carbon dioxide
gptkbp:tissue_specificity	gptkb:kidney gptkb:osteoclasts gastrointestinal tract red blood cells
gptkbp:UniProtID	P00918
gptkbp:bfsParent	gptkb:Crystal_structure_of_human_carbonic_anhydrase_II_complexed_with_acetazolamide gptkb:CHEMBL190836 gptkb:CHEMBL521903
gptkbp:bfsLayer	7