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Aliases for CA2 Gene

Aliases for CA2 Gene

  • Carbonic Anhydrase II 2 3 4
  • Carbonate Dehydratase II 3 4
  • Carbonic Anhydrase C 3 4
  • EC 4.2.1.1 4 63
  • CA-II 3 4
  • CAC 3 4
  • Epididymis Luminal Protein 76 3
  • Carbonic Dehydratase 3
  • Carbonic Anhydrase B 3
  • HEL-76 3
  • CAR2 3
  • CAII 3

External Ids for CA2 Gene

Previous GeneCards Identifiers for CA2 Gene

  • GC08P085200
  • GC08P086333
  • GC08P086156
  • GC08P086450
  • GC08P086563
  • GC08P081870
  • GC08P086376

Summaries for CA2 Gene

Entrez Gene Summary for CA2 Gene

  • 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]

GeneCards Summary for CA2 Gene

CA2 (Carbonic Anhydrase II) is a Protein Coding gene. Diseases associated with CA2 include osteopetrosis, autosomal recessive 3, with renal tubular acidosis and central nervous system hemangioma. Among its related pathways are Metabolism and Glucose / Energy Metabolism. GO annotations related to this gene include carbonate dehydratase activity and arylesterase activity. An important paralog of this gene is CA14.

UniProtKB/Swiss-Prot for CA2 Gene

  • 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.

Tocris Summary for CA2 Gene

  • Carbonic anhydrases (EC 4.2.1.1) are zinc-containing enzymes belonging to the lyases family, and are primarily responsible for catalyzing the reversible hydration of carbon dioxide to form bicarbonate (HCO3-) and hydrogen (H+) ions.

Gene Wiki entry for CA2 Gene

No data available for PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for CA2 Gene

Genomics for CA2 Gene

Epigenetics Products

  • DNA Methylation CpG Assay Predesigned for Pyrosequencing in human,mouse,rat

Genomic Location for CA2 Gene

Chromosome:
8
Start:
85,463,852 bp from pter
End:
85,481,493 bp from pter
Size:
17,642 bases
Orientation:
Plus strand

Genomic View for CA2 Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for CA2 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for CA2 Gene

Proteins for CA2 Gene

  • Protein details for CA2 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P00918-CAH2_HUMAN
    Recommended name:
    Carbonic anhydrase 2
    Protein Accession:
    P00918
    Secondary Accessions:
    • B2R7G8
    • Q6FI12
    • Q96ET9

    Protein attributes for CA2 Gene

    Size:
    260 amino acids
    Molecular mass:
    29246 Da
    Cofactor:
    Name=Zn(2+); Xref=ChEBI:CHEBI:29105; Name=Co(2+); Xref=ChEBI:CHEBI:48828; Note=Zinc. Can also use cobalt(II) with lower efficiency, but not copper(II), nickel(II) and manganese(II).;
    Quaternary structure:
    • Interacts with SLC4A4. Interaction with SLC4A7 regulates SLC4A7 transporter activity. Interacts with SLC26A6 isoform 4 (via C-terminus cytoplasmic domain).
    Miscellaneous:
    • Target of drugs used in treatments against glaucoma disorder and breast cancer

    Three dimensional structures from OCA and Proteopedia for CA2 Gene

neXtProt entry for CA2 Gene

Proteomics data for CA2 Gene at MOPED

Selected DME Specific Peptides for CA2 Gene

Post-translational modifications for CA2 Gene

  • Ubiquitination at Lys 18, Lys 39, Lys 45, Lys 80, Lys 158, and Lys 224
  • Modification sites at PhosphoSitePlus

Other Protein References for CA2 Gene

Antibody Products

  • R&D Systems Antibodies for CA2 (Carbonic Anhydrase II/CA2)
  • Cell Signaling Technology (CST) Antibodies for CA2 (CA2)

Domains & Families for CA2 Gene

Gene Families for CA2 Gene

Suggested Antigen Peptide Sequences for CA2 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

P00918

UniProtKB/Swiss-Prot:

CAH2_HUMAN :
  • Belongs to the alpha-carbonic anhydrase family.
Family:
  • Belongs to the alpha-carbonic anhydrase family.
genes like me logo Genes that share domains with CA2: view

Function for CA2 Gene

Molecular function for CA2 Gene

GENATLAS Biochemistry:
carbonic anhydrase II,cytosolic,ubiquitous
UniProtKB/Swiss-Prot BiophysicochemicalProperties:
Absorption: Abs(max)=550 nm {ECO:0000269 PubMed:10550681, ECO:0000269 PubMed:15667203, ECO:0000269 PubMed:17330962, ECO:0000269 PubMed:18618712, ECO:0000269 PubMed:18942852, ECO:0000269 PubMed:1909891, ECO:0000269 PubMed:1910042, ECO:0000269 PubMed:7761440, ECO:0000269 PubMed:8262987, ECO:0000269 PubMed:9398308}; Note=At pH 7.0. Shows a second maximum at 618 nm.; Kinetic parameters: KM=10 mM for CO(2) {ECO:0000269 PubMed:10550681, ECO:0000269 PubMed:15667203, ECO:0000269 PubMed:17330962, ECO:0000269 PubMed:18618712, ECO:0000269 PubMed:18942852, ECO:0000269 PubMed:1909891, ECO:0000269 PubMed:1910042, ECO:0000269 PubMed:7761440, ECO:0000269 PubMed:8262987, ECO:0000269 PubMed:9398308}; KM=82 mM for H(2)CO(3) {ECO:0000269 PubMed:10550681, ECO:0000269 PubMed:15667203, ECO:0000269 PubMed:17330962, ECO:0000269 PubMed:18618712, ECO:0000269 PubMed:18942852, ECO:0000269 PubMed:1909891, ECO:0000269 PubMed:1910042, ECO:0000269 PubMed:7761440, ECO:0000269 PubMed:8262987, ECO:0000269 PubMed:9398308}; KM=3 mM for 4-nitrophenyl acetate {ECO:0000269 PubMed:10550681, ECO:0000269 PubMed:15667203, ECO:0000269 PubMed:17330962, ECO:0000269 PubMed:18618712, ECO:0000269 PubMed:18942852, ECO:0000269 PubMed:1909891, ECO:0000269 PubMed:1910042, ECO:0000269 PubMed:7761440, ECO:0000269 PubMed:8262987, ECO:0000269 PubMed:9398308}; pH dependence: Optimum pH is 6-8. {ECO:0000269 PubMed:10550681, ECO:0000269 PubMed:15667203, ECO:0000269 PubMed:17330962, ECO:0000269 PubMed:18618712, ECO:0000269 PubMed:18942852, ECO:0000269 PubMed:1909891, ECO:0000269 PubMed:1910042, ECO:0000269 PubMed:7761440, ECO:0000269 PubMed:8262987, ECO:0000269 PubMed:9398308};
UniProtKB/Swiss-Prot CatalyticActivity:
H(2)CO(3) = CO(2) + H(2)O
UniProtKB/Swiss-Prot EnzymeRegulation:
Activated by X-ray, histamine, L-adrenaline, L- and D-phenylalanine, L- and D-histidine, L-His-OMe and beta-Ala-His (carnosine). Competitively inhibited by saccharin, thioxolone, coumarins, 667-coumate, celecoxib (Celebrex), valdecoxib (Bextra), SC-125, SC-560, diclofenac, acetate, azide, bromide, sulfonamide derivatives such as acetazolamide (AZA), methazolamide (MZA), ethoxzolamide (EZA), dichlorophenamide (DCP), brinzolamide, dansylamide, thiabendazole-5-sulfonamide, trifluoromethane sulfonamide and N-hydroxysulfamide, fructose-based sugar sulfamate RWJ-37497, and Foscarnet (phosphonoformate trisodium salt). Repressed strongly by hydrogen sulfide(HS) and weakly by nitrate (NO(3)). Esterase activity weakly reduced by cyanamide. N-hydroxyurea interfers with zinc binding and inhibit activity.
UniProtKB/Swiss-Prot 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.

Enzyme Numbers (IUBMB) for CA2 Gene

Gene Ontology (GO) - Molecular Function for CA2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0004064 arylesterase activity IMP 3126084
GO:0004089 carbonate dehydratase activity IMP 7758465
GO:0005515 protein binding IPI 15990874
GO:0008270 zinc ion binding IDA 3151020
genes like me logo Genes that share ontologies with CA2: view
genes like me logo Genes that share phenotypes with CA2: view

Animal Model Products

miRNA for CA2 Gene

No data available for Animal Models , Transcription Factor Targets and HOMER Transcription for CA2 Gene

Localization for CA2 Gene

Subcellular locations from UniProtKB/Swiss-Prot for CA2 Gene

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.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for CA2 Gene COMPARTMENTS Subcellular localization image for CA2 gene
Compartment Confidence
extracellular 5
plasma membrane 5
cytosol 4
chloroplast 2
cytoskeleton 2
endoplasmic reticulum 2
mitochondrion 2
nucleus 2
vacuole 2
lysosome 1

Gene Ontology (GO) - Cellular Components for CA2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005615 extracellular space IEA --
GO:0005737 cytoplasm IDA 114507
GO:0005829 cytosol TAS --
GO:0005886 plasma membrane IDA 15990874
GO:0005902 microvillus IEA --
genes like me logo Genes that share ontologies with CA2: view

Pathways & Interactions for CA2 Gene

genes like me logo Genes that share pathways with CA2: view

Gene Ontology (GO) - Biological Process for CA2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001822 kidney development IEA --
GO:0002009 morphogenesis of an epithelium IEA --
GO:0006730 one-carbon metabolic process IEA --
GO:0009268 response to pH IEA --
GO:0010033 response to organic substance --
genes like me logo Genes that share ontologies with CA2: view

No data available for SIGNOR curated interactions for CA2 Gene

Drugs & Compounds for CA2 Gene

(130) Drugs for CA2 Gene - From: NovoSeek, HMDB, DrugBank, ApexBio, Tocris, and DGIdb

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Brinzolamide Approved Pharma inhibitor, Target CA II inhibitor 57
Topiramate Approved Pharma antagonist, Target, inhibitor GluR5 receptor antagonist,anticonvulsant, GluR5 antagonist; inhibits carbonic anhydrase (CA) II and IV 230
Chlorothiazide Approved Pharma Inhibition, Inhibitor, inhibitor, Target Carbonic anhydrase inhibitor 7
Acetazolamide Approved Pharma inhibitor, Target 61
Methazolamide Approved Pharma Target, inhibitor Carbonic anhydrase inhibitor 5

(49) Additional Compounds for CA2 Gene - From: NovoSeek and HMDB

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
carbon dioxide
  • Carbon oxide
  • Carbon-12 dioxide
  • Carbonic acid anhydride
  • Carbonic acid gas
  • Carbonic anhydride
124-38-9
Carbonic acid
  • Acid of air
  • Aerial acid
  • Bisodium carbonate
  • Calcined
  • Carbonic acid sodium salt
463-79-6
Water
  • Dihydrogen oxide
  • Steam
7732-18-5
23-diphosphoglycerate
2-MERCAPTOETHANOL
genes like me logo Genes that share compounds with CA2: view

Transcripts for CA2 Gene

Unigene Clusters for CA2 Gene

Carbonic anhydrase II:
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for CA2 Gene

ExUns: 1a · 1b · 1c ^ 2 ^ 3 ^ 4a · 4b ^ 5a · 5b ^ 6 ^ 7a · 7b · 7c ^ 8a · 8b · 8c · 8d
SP1: - -
SP2: -
SP3: - - - -
SP4:
SP5: - - - - - -
SP6:

Relevant External Links for CA2 Gene

GeneLoc Exon Structure for
CA2
ECgene alternative splicing isoforms for
CA2

Expression for CA2 Gene

mRNA expression in normal human tissues for CA2 Gene

mRNA differential expression in normal tissues according to GTEx for CA2 Gene

This gene is overexpressed in Colon - Transverse (x9.4) and Stomach (x7.4).

Protein differential expression in normal tissues from HIPED for CA2 Gene

This gene is overexpressed in Retina (14.8) and Salivary gland (7.5).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MOPED, and MaxQB for CA2 Gene



SOURCE GeneReport for Unigene cluster for CA2 Gene Hs.155097

genes like me logo Genes that share expression patterns with CA2: view

Primer Products

In Situ Assay Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA Expression by UniProt/SwissProt and Protein tissue co-expression partners for CA2 Gene

Orthologs for CA2 Gene

This gene was present in the common ancestor of animals.

Orthologs for CA2 Gene

Organism Taxonomy Gene Similarity Type Details
cow
(Bos Taurus)
Mammalia CA2 35
  • 81.84 (n)
  • 80.93 (a)
CA2 36
  • 80 (a)
OneToOne
dog
(Canis familiaris)
Mammalia CA2 35
  • 87.44 (n)
  • 88.08 (a)
CA2 36
  • 88 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Car2 35
  • 81.79 (n)
  • 81.15 (a)
Car2 16
Car2 36
  • 81 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia CA2 35
  • 99.62 (n)
  • 98.85 (a)
CA2 36
  • 99 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Car2 35
  • 81.03 (n)
  • 80.77 (a)
oppossum
(Monodelphis domestica)
Mammalia -- 36
  • 60 (a)
OneToMany
-- 36
  • 56 (a)
OneToMany
platypus
(Ornithorhynchus anatinus)
Mammalia CA2 36
  • 72 (a)
OneToOne
chicken
(Gallus gallus)
Aves CA2 35
  • 72.18 (n)
  • 70.77 (a)
CA2 36
  • 71 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia CA2 36
  • 67 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia ca2 35
  • 64.74 (n)
  • 63.08 (a)
African clawed frog
(Xenopus laevis)
Amphibia ca2-prov 35
zebrafish
(Danio rerio)
Actinopterygii cahz 35
ca2 36
  • 62 (a)
ManyToMany
cahz 36
  • 63 (a)
ManyToMany
fruit fly
(Drosophila melanogaster)
Insecta CAH1 37
  • 45 (a)
CG11284 37
  • 35 (a)
CG6074 37
  • 33 (a)
CG6906 37
  • 36 (a)
CAH1 36
  • 45 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea cah-3 37
  • 35 (a)
Species with no ortholog for CA2:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for CA2 Gene

ENSEMBL:
Gene Tree for CA2 (if available)
TreeFam:
Gene Tree for CA2 (if available)

Paralogs for CA2 Gene

Paralogs for CA2 Gene

(17) SIMAP similar genes for CA2 Gene using alignment to 3 proteins:

genes like me logo Genes that share paralogs with CA2: view

Variants for CA2 Gene

Sequence variations from dbSNP and Humsavar for CA2 Gene

SNP ID Clin Chr 08 pos Sequence Context AA Info Type MAF
rs703 -- 85,477,174(-) ATCCA(A/G)GGATT synonymous-codon, reference
rs14914 -- 85,481,271(+) taaag(A/G)aaaac utr-variant-3-prime
rs2172493 -- 85,472,736(-) CGGGA(A/T)TACAG intron-variant
rs2228063 Pathogenic, Pathogenic, - 85,480,760(+) TGAAG(A/G)ACAGG reference, missense
rs2307075 -- 85,475,999(-) TTAAG(G/T)AATAT intron-variant

Structural Variations from Database of Genomic Variants (DGV) for CA2 Gene

Variant ID Type Subtype PubMed ID
nsv831377 CNV Gain 17160897

Variation tolerance for CA2 Gene

Residual Variation Intolerance Score: 32.39% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 2.79; 47.36% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for CA2 Gene

HapMap Linkage Disequilibrium report
CA2
Human Gene Mutation Database (HGMD)
CA2

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for CA2 Gene

Disorders for CA2 Gene

MalaCards: The human disease database

(25) MalaCards diseases for CA2 Gene - From: OMIM, ClinVar, GeneTests, Orphanet, Swiss-Prot, DISEASES, NovoSeek, and GeneCards

- elite association
Search CA2 in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

CAH2_HUMAN
  • 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:0000269 PubMed:15300855, ECO:0000269 PubMed:1542674, ECO:0000269 PubMed:1928091, ECO:0000269 PubMed:8834238, ECO:0000269 PubMed:9143915}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Genatlas disease for CA2 Gene

osteopetrosis with renal tubular acidosis and cerebral calcifications

Relevant External Links for CA2

Genetic Association Database (GAD)
CA2
Human Genome Epidemiology (HuGE) Navigator
CA2
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
CA2
genes like me logo Genes that share disorders with CA2: view

Publications for CA2 Gene

  1. Brinzolamide ophthalmic suspension: a review of its pharmacology and use in the treatment of open angle glaucoma and ocular hypertension. (PMID: 19668749) Iester M. (Clin Ophthalmol 2008) 23 25 26 67
  2. Renal and hepatic expression of the ammonium transporter proteins, Rh B Glycoprotein and Rh C Glycoprotein. (PMID: 14656370) Weiner I.D. … Verlander J.W. (Acta Physiol. Scand. 2003) 23 25 26 67
  3. Preclinical overview of brinzolamide. (PMID: 10665514) DeSantis L. (Surv Ophthalmol 2000) 23 25 26 67
  4. Structures of murine carbonic anhydrase IV and human carbonic anhydrase II complexed with brinzolamide: molecular basis of isozyme- drug discrimination. (PMID: 9541386) Stams T. … Christianson D.W. (Protein Sci. 1998) 23 25 26 67
  5. Structural analysis of inhibitor binding to human carbonic anhydrase II. (PMID: 9865942) Boriack-Sjodin P.A. … Christianson D.W. (Protein Sci. 1998) 23 25 26 67

Products for CA2 Gene

Sources for CA2 Gene

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