InnateDB: Systems Biology of the Innate Immune Response

Homo sapiens Protein: CA2

Summary

InnateDB Protein

IDBP-27232.6

Last Modified

2014-10-13 [Report errors or provide feedback]

Gene Symbol

CA2

Protein Name

carbonic anhydrase II

Synonyms

CA-II; CAC; CAII; Car2; HEL-76;

Species

Homo sapiens

Ensembl Protein

ENSP00000285379

InnateDB Gene

IDBG-27230 (CA2)

Protein Structure

UniProt Annotation

Function

Essential for bone resorption and osteoclast differentiation (By similarity). Reversible hydration of carbon dioxide. Can hydrate cyanamide to urea. Involved in the regulation of fluid secretion into the anterior chamber of the eye. Contributes to intracellular pH regulation in the duodenal upper villous epithelium during proton-coupled peptide absorption. Stimulates the chloride-bicarbonate exchange activity of SLC26A6. {ECO:0000250, ECO:0000269PubMed:10550681, ECO:0000269PubMed:11831900, ECO:0000269PubMed:15990874}.

Subcellular Localization

Cytoplasm {ECO:0000269PubMed:15990874}. Cell membrane {ECO:0000269PubMed:15990874}. Note=Colocalized with SLC26A6 at the surface of the cell membrane in order to form a bicarbonate transport metabolon. Displaced from the cytosolic surface of the cell membrane by PKC in phorbol myristate acetate (PMA)-induced cells.

Disease Associations

Osteopetrosis, autosomal recessive 3 (OPTB3) [MIM:259730]: A rare genetic disease characterized by abnormally dense bone, due to defective resorption of immature bone. Osteopetrosis occurs in two forms: a severe autosomal recessive form occurring in utero, infancy, or childhood, and a benign autosomal dominant form occurring in adolescence or adulthood. Recessive osteopetrosis commonly manifests in early infancy with macrocephaly, feeding difficulties, evolving blindness and deafness, bone marrow failure, severe anemia, and hepatosplenomegaly. Deafness and blindness are generally thought to represent effects of pressure on nerves. OPTB3 is associated with renal tubular acidosis, cerebral calcification (marble brain disease) and in some cases with mental retardation. {ECO:0000269PubMed:15300855, ECO:0000269PubMed:1542674, ECO:0000269PubMed:1928091, ECO:0000269PubMed:8834238, ECO:0000269PubMed:9143915}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Tissue Specificity

Comments

Interactions

Number of Interactions

This gene and/or its encoded proteins are associated with 16 experimentally validated interaction(s) in this database.

Experimentally validated
Total	16 [view]
Protein-Protein	16 [view]
Protein-DNA	0
Protein-RNA	0
DNA-DNA	0
RNA-RNA	0
DNA-RNA	0

Gene Ontology

Molecular Function

Accession	GO Term
GO:0004089	carbonate dehydratase activity
GO:0005515	protein binding
GO:0008270	zinc ion binding

Biological Process

GO:0001822	kidney development
GO:0002009	morphogenesis of an epithelium
GO:0006730	one-carbon metabolic process
GO:0009268	response to pH
GO:0010033	response to organic substance
GO:0010043	response to zinc ion
GO:0015701	bicarbonate transport
GO:0032230	positive regulation of synaptic transmission, GABAergic
GO:0032849	positive regulation of cellular pH reduction
GO:0038166	angiotensin-activated signaling pathway
GO:0042475	odontogenesis of dentin-containing tooth
GO:0043627	response to estrogen
GO:0044070	regulation of anion transport
GO:0044281	small molecule metabolic process
GO:0045672	positive regulation of osteoclast differentiation
GO:0045780	positive regulation of bone resorption
GO:0046903	secretion
GO:0048545	response to steroid hormone
GO:0051453	regulation of intracellular pH
GO:0071498	cellular response to fluid shear stress
GO:2001150	positive regulation of dipeptide transmembrane transport
GO:2001225	regulation of chloride transport

Cellular Component

GO:0005615	extracellular space
GO:0005737	cytoplasm
GO:0005829	cytosol
GO:0005886	plasma membrane
GO:0005902	microvillus
GO:0016323	basolateral plasma membrane
GO:0030424	axon
GO:0043209	myelin sheath
GO:0045177	apical part of cell
GO:0070062	extracellular vesicular exosome