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    CA2 carbonic anhydrase II [ Homo sapiens ]

    Gene ID: 760, updated on 19-May-2012
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    Summary

    Official Symbol
    CA2provided by HGNC
    Official Full Name
    carbonic anhydrase IIprovided by HGNC
    Primary source
    HGNC:1373
    See related
    Ensembl:ENSG00000104267; HPRD:02023; MIM:611492; Vega:OTTHUMG00000164944
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    CAII; Car2; CA-II
    Summary
    CA2 is one of several (at least 7) isozymes of carbonic anhydrase. Carbonic anhydrase catalyzes reversible hydration of carbon dioxide. Defects in this enzyme are associated with osteopetrosis and renal tubular acidosis. [provided by RefSeq, Jul 2008]
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    Genomic context

    Location :
    8q22
    Sequence :
    Chromosome: 8; NC_000008.10 (86376131..86393721)
    See CA2 in Epigenomics, MapViewer

    Chromosome 8 - NC_000008.10Genomic Context describing neighboring genes Neighboring gene carbonic anhydrase I Neighboring gene carbonic anhydrase III, muscle specific Neighboring gene REX1, RNA exonuclease 1 homolog (S. cerevisiae)-like 3, pseudogene Neighboring gene REX1, RNA exonuclease 1 homolog (S. cerevisiae)-like 8 Neighboring gene REX1, RNA exonuclease 1 homolog (S. cerevisiae)-like 1

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    Genomic regions, transcripts, and products

    Go to nucleotideGraphics FASTA GenBank

    Go to reference sequence details
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    Bibliography

    Related articles in PubMed

    1. Structure and catalysis by carbonic anhydrase II: role of active-site tryptophan 5. Mikulski R, et al. Arch Biochem Biophys, 2011 Dec 15. PMID 22001224.
    2. Neutron structure of human carbonic anhydrase II: a hydrogen-bonded water network "switch" is observed between pH 7.8 and 10.0. Fisher Z, et al. Biochemistry, 2011 Nov 8. PMID 21988105.
    3. A proteome-wide, quantitative survey of in vivo ubiquitylation sites reveals widespread regulatory roles. Wagner SA, et al. Mol Cell Proteomics, 2011 Oct. PMID 21890473.
    4. Transport activity of the high-affinity monocarboxylate transporter MCT2 is enhanced by extracellular carbonic anhydrase IV but not by intracellular carbonic anhydrase II. Klier M, et al. J Biol Chem, 2011 Aug 5. PMID 21680735.
    5. An intramolecular transport metabolon: fusion of carbonic anhydrase II to the COOH terminus of the Cl(-)/HCO(3)(-)exchanger, AE1. Sowah D, et al. Am J Physiol Cell Physiol, 2011 Aug. PMID 21543742.

    See all (139) citations in PubMed

    See citations in PubMed for homologs of this gene provided by HomoloGene

    GeneRIFs: Gene References Into Functions What's a GeneRIF?

    1. The apparent values of the pK(a) of the zinc-bound water and the proton shuttle residue suggest that different active-site conformations influence the two stages of catalysis, the proton transfer stage and the interconversion of CO(2) and bicarbonate.
      Title: Structure and catalysis by carbonic anhydrase II: role of active-site tryptophan 5.
    2. Detailed analysis and comparison to the previously determined structure of CAII at pH 10.0 show important differences in protonation of key catalytic residues in the active site as well as a rearrangement of the hydrogen-bonded water network.
      Title: Neutron structure of human carbonic anhydrase II: a hydrogen-bonded water network "switch" is observed between pH 7.8 and 10.0.
    3. The expression of CA2 is significantly increased in the spermatozoa of asthenozoospermic men, which might be responsible for low sperm motility.
      Title: [Expression of carbonic anhydrase II in human testes and spermatozoa and its clinical significance].
    4. data suggest that extracellular membrane-bound CAIV, but not cytosolic CAII, augments transport activity of MCT2 in a non-catalytic manner, possibly by facilitating a proton pathway other than His-88
      Title: Transport activity of the high-affinity monocarboxylate transporter MCT2 is enhanced by extracellular carbonic anhydrase IV but not by intracellular carbonic anhydrase II.
    5. Data suggest that association of functional CAII with AE1 increases Cl(-)/HCO(3)(-) exchange activity, consistent with the HCO(3)(-) transport metabolon model.
      Title: An intramolecular transport metabolon: fusion of carbonic anhydrase II to the COOH terminus of the Cl(-)/HCO(3)(-)exchanger, AE1.
    6. The H(+) shuttle in CAII not only facilitates CAII catalytic activity but also can enhance activity of acid-/base-transporting proteins such as MCT1/4 in a direct, noncatalytic manner, possibly by acting as an "H(+)-collecting antenna."
      Title: Intramolecular proton shuttle supports not only catalytic but also noncatalytic function of carbonic anhydrase II.
    7. The side chain of Tyr7 in CA II extends into the active-site cavity about 7 A from the catalytic zinc atom. Replacement of Tyr7 with eight other amino acids had no effect on the interconversion of bicarbonate and CO2.
      Title: Kinetic and crystallographic studies of the role of tyrosine 7 in the active site of human carbonic anhydrase II.
    8. plasma level of CAII was significantly increased in Alzheimer disease patients, providing further evidence that changes in CAII level may play a role in the pathogenesis of Alzheimer disease.
      Title: Plasma carbonic anhydrase II protein is elevated in Alzheimer's disease.
    9. The visible absorption of crystals of Co(II)-substituted carbonic anhydrase II were measured over a pH range of 6.0-11.0 giving an estimate of pK(a) 8.4 for the ionization of the metal-bound water in the crystal.
      Title: Comparison of solution and crystal properties of Co(II)-substituted human carbonic anhydrase II.
    10. structure of Car2 has been redetermined, with the coordinates of both pseudo-symmetrically related molecules in the crystallographic asymmetric unit translated by x' = x +/- 1/4, and no rotational disorder is observed
      Title: Emerging from pseudo-symmetry: the redetermination of human carbonic anhydrase II in monoclinic P2(1) with a doubled a axis.
    Submit: New GeneRIF Correction See all (67)
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    Phenotypes

    Find tests for this gene in the NIH Genetic Testing Registry (GTR)

    Review eQTL and phenotype association data in this region using PheGenI

    Osteopetrosis, autosomal recessive 3, with renal tubular acidosis

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    Interactions

    Products Interactant Other Gene Complex Source Pubs Description
    P00918 Q9H8Y5 ANKZF1    HPRD  PubMed  
    P00918 P63167 DYNLL1    HPRD  PubMed  
    P00918 P10809 HSPD1    HPRD  PubMed  
    P00918 Q15233 NONO    HPRD  PubMed  
    P00918 Patched domain containing 2 PTCHD2    HPRD  PubMed  
    P00918 P02730 SLC4A1    HPRD  PubMed  
    P00918 P04920 SLC4A2    HPRD  PubMed  
    P00918 P48751 SLC4A3    HPRD  PubMed  
    P00918 Q9Y6R1 SLC4A4    HPRD  PubMed  
    P00918 Solute carrier family 4, member 8 SLC4A8    HPRD  PubMed  
    P00918 P19634 SLC9A1    HPRD  PubMed  
    BioGRID:107215 BioGRID:198624 Cdk1    BioGRID  PubMed Affinity Capture-MS 
    BioGRID:107215 BioGRID:109561 HSPD1    BioGRID  PubMed Co-crystal Structure 
    BioGRID:107215 BioGRID:110904 NONO    BioGRID  PubMed Reconstituted Complex 
    BioGRID:107215 BioGRID:111142 PCNA    BioGRID  PubMed Affinity Capture-MS 
    BioGRID:107215 BioGRID:112412 SLC4A1    BioGRID  PubMed Reconstituted Complex 
    BioGRID:107215 BioGRID:114877 SLC4A8    BioGRID  PubMed Reconstituted Complex 
    BioGRID:107215 BioGRID:112438 SLC9A1    BioGRID  PubMed Affinity Capture-Western; Reconstituted Complex 
    BioGRID:107215 BioGRID:113164 UBC    BioGRID  PubMed Affinity Capture-MS 
    BioGRID:107215 BioGRID:123904 USP42    BioGRID  PubMed Affinity Capture-MS 
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    General gene information

    Markers

    Genotypes

    Homology

    Pathways from BioSystems

    • Bile secretion, organism-specific biosystem (from KEGG)
      Bile secretion, organism-specific biosystemBile is a vital secretion, essential for digestion and absorption of fats and fat-soluble vitamins in the small intestine. Moreover, bile is an important route of elimination for excess cholesterol a...
    • Bile secretion, conserved biosystem (from KEGG)
      Bile secretion, conserved biosystemBile is a vital secretion, essential for digestion and absorption of fats and fat-soluble vitamins in the small intestine. Moreover, bile is an important route of elimination for excess cholesterol a...
    • Collecting duct acid secretion, organism-specific biosystem (from KEGG)
      Collecting duct acid secretion, organism-specific biosystemOne of the important roles of the collecting duct segment of the kidney nephron is acid secretion. As daily food intake loads acid into the body, urinary acid excretion is essential, and urine pH can...
    • Collecting duct acid secretion, conserved biosystem (from KEGG)
      Collecting duct acid secretion, conserved biosystemOne of the important roles of the collecting duct segment of the kidney nephron is acid secretion. As daily food intake loads acid into the body, urinary acid excretion is essential, and urine pH can...
    • Gastric acid secretion, organism-specific biosystem (from KEGG)
      Gastric acid secretion, organism-specific biosystemGastric acid is a key factor in normal upper gastrointestinal functions, including protein digestion and calcium and iron absorption, as well as providing some protection against bacterial infections...
    • Gastric acid secretion, conserved biosystem (from KEGG)
      Gastric acid secretion, conserved biosystemGastric acid is a key factor in normal upper gastrointestinal functions, including protein digestion and calcium and iron absorption, as well as providing some protection against bacterial infections...
    • Pancreatic secretion, organism-specific biosystem (from KEGG)
      Pancreatic secretion, organism-specific biosystemThe pancreas performs both exocrine and endocrine functions. The exocrine pancreas consists of two parts, the acinar and duct cells. The primary functions of pancreatic acinar cells are to synthesiz...
    • Pancreatic secretion, conserved biosystem (from KEGG)
      Pancreatic secretion, conserved biosystemThe pancreas performs both exocrine and endocrine functions. The exocrine pancreas consists of two parts, the acinar and duct cells. The primary functions of pancreatic acinar cells are to synthesiz...
    • Proximal tubule bicarbonate reclamation, organism-specific biosystem (from KEGG)
      Proximal tubule bicarbonate reclamation, organism-specific biosystemOne of the major tasks of the renal proximal tubule (PT) is to secrete acid into the tubule lumen, thereby reabsorbing approximately 80% of the filtered bicarbonate (HCO3(-)), as well as generating "...
    • Proximal tubule bicarbonate reclamation, conserved biosystem (from KEGG)
      Proximal tubule bicarbonate reclamation, conserved biosystemOne of the major tasks of the renal proximal tubule (PT) is to secrete acid into the tubule lumen, thereby reabsorbing approximately 80% of the filtered bicarbonate (HCO3(-)), as well as generating "...

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    carbonate dehydratase activity IEA
    Inferred from Electronic Annotation
    more info
    		  
    lyase activity IEA
    Inferred from Electronic Annotation
    more info
    		  
    metal ion binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    zinc ion binding IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    Process Evidence Code Pubs
    carbon dioxide transport IEA
    Inferred from Electronic Annotation
    more info
    		  
    kidney development IEA
    Inferred from Electronic Annotation
    more info
    		  
    morphogenesis of an epithelium IEA
    Inferred from Electronic Annotation
    more info
    		  
    odontogenesis of dentin-containing tooth IEA
    Inferred from Electronic Annotation
    more info
    		  
    one-carbon metabolic process IEA
    Inferred from Electronic Annotation
    more info
    		  
    positive regulation of bone resorption IEA
    Inferred from Electronic Annotation
    more info
    		  
    positive regulation of cellular pH reduction IEA
    Inferred from Electronic Annotation
    more info
    		  
    positive regulation of osteoclast differentiation IEA
    Inferred from Electronic Annotation
    more info
    		  
    response to estrogen stimulus IEA
    Inferred from Electronic Annotation
    more info
    		  
    response to organic substance IEA
    Inferred from Electronic Annotation
    more info
    		  
    response to pH IEA
    Inferred from Electronic Annotation
    more info
    		  
    response to stress IEA
    Inferred from Electronic Annotation
    more info
    		  
    response to zinc ion IEA
    Inferred from Electronic Annotation
    more info
    		  
    secretion IEA
    Inferred from Electronic Annotation
    more info
    		  
    Component Evidence Code Pubs
    apical part of cell IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    axon IEA
    Inferred from Electronic Annotation
    more info
    		  
    basolateral plasma membrane IEA
    Inferred from Electronic Annotation
    more info
    		  
    cytoplasm IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    cytosol IEA
    Inferred from Electronic Annotation
    more info
    		  
    extracellular space IEA
    Inferred from Electronic Annotation
    more info
    		  
    microvillus IEA
    Inferred from Electronic Annotation
    more info
    		  
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    General protein information

    Preferred Names
    carbonic anhydrase 2
    Names
    carbonic anhydrase 2
    CAC
    carbonic anhydrase B
    carbonic anhydrase C
    carbonic dehydratase
    carbonate dehydratase II
    NP_000058.1
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    NCBI Reference Sequences (RefSeq)

    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    Genomic

    1. NG_007287.1 RefSeqGene

      Range
      4886..22476
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_000067.2 → NP_000058.1  carbonic anhydrase 2

      Status: REVIEWED

      Source sequence(s)
      DA431650, J03037, M36532
      Consensus CDS
      CCDS6239.1
      UniProtKB/Swiss-Prot
      P00918
      Related
      ENSP00000285379, OTTHUMP00000227991, ENST00000285379, OTTHUMT00000381097
      Conserved Domains (1) summary
      cd03119
      Location:1 – 259
      Blast Score: 1205
      alpha_CA_I_II_III_XIII; Carbonic anhydrase alpha, isozymes I, II, and III and XIII. Carbonic anhydrases (CAs) are zinc-containing enzymes that catalyze the reversible hydration of carbon dioxide in a two-step mechanism: a nucleophilic attack of a zinc-bound hydroxide ion on ...

    RefSeqs of Annotated Genomes: Build 37.3

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh37.p5 Primary Assembly

    Genomic

    1. NC_000008.10 Reference GRCh37.p5 Primary Assembly

      Range
      86376131..86393721
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate HuRef

    Genomic

    1. AC_000140.1 Alternate HuRef

      Range
      81870322..81887902
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
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    Related Sequences

    Nucleotide Protein
    Heading Accession and Version
    genomic AC084734.4 (50421..67896) None
    genomic CH471068.1 EAW87136.1
    genomic M77178.1 AAA51909.1
    genomic M77181.1 AAA51909.1
    genomic X03251.1 CAA27012.1
    mRNA AF015039.1 None
    mRNA AK312978.1 BAG35815.1
    mRNA BC011949.1 AAH11949.1
    mRNA BC035424.1 None
    mRNA CR536526.1 CAG38763.1
    mRNA CR541875.1 CAG46673.1
    mRNA DA431650.1 None
    mRNA J03037.1 AAA51908.1
    mRNA M36532.1 AAA51911.1
    mRNA S69526.1 AAB30170.1
    mRNA Y00339.1 CAA68426.1
    other-genetic DQ891320.2 ABM82246.1
    other-genetic DQ894504.2 ABM85430.1
    Protein Accession Links
    GenPept Link UniProtKB Link
    P00918.2 GenPept UniProtKB/Swiss-Prot:P00918
    Q6LD99 GenPept UniProtKB/TrEMBL:Q6LD99
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    Additional Links

    Additional Links

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

    Chemical Information
    Medical
    Molecular Biology Databases
    Research Materials
    Tools
    Miscellaneous

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