RBCC Red Blood Cell Collection

CAH2_HUMAN

Source: hRBCD ; ID: IPI00218414
PM19886704
PM23856902
PM22954596
Marked as 'Membrane associated protein'
Confidence: high (present in two of the MS resources) Search PubMed for
(RBC AND this entry)
Gene names: CA2
Protein names and data: CAH2_HUMAN , Carbonic anhydrase 2; 4.2.1.1 , Carbonate dehydratase II; Carbonic anhydrase C; CAC; Carbonic anhydrase II; CA-II Lenght: 260 a.a.
Mass: 29246 Da
fasta formatted sequence
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.
Catalytic activity: H(2)CO(3) = CO(2) + H(2)O.
Disease: ( OMIM: 259730 611492 ) 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. Note=The disease is caused by mutations affecting the gene represented in this entry.
Cellular location: Cytoplasm. Cell membrane. 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.

Genetic variants

18 - 18 K -> E (in Jogjakarta). VAR_001380
92 - 92 Q -> P (in OPTB3; in Czechoslovakia). VAR_001381
94 - 94 H -> Y (in OPTB3; partial loss of activity). VAR_021009
107 - 107 H -> Y (in OPTB3; frequent mutation). VAR_001382
144 - 144 G -> R (in OPTB3; complete loss of activity). VAR_021010
236 - 236 P -> H (in Melbourne). VAR_001383
252 - 252 N -> D (in dbSNP:rs2228063). VAR_001384 2228063

Database cross-references

UniProt: P00918
Ensembl: ENST00000285379
MIM: 259730
MIM: 611492
neXtProt: NX_P00918
Antibodypedia: P00918 (may not find the protein thus also not any antibody)
Local full text data: click here

Users' comments

Login to add a comment.

© Hegelab and Biomembrane 2013; Powered by TurboGears 2