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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
  • Carbonic Anhydrase 2 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 autoimmune retinopathy. Among its related pathways are Metabolism and Glucose / Energy Metabolism. GO annotations related to this gene include carbonate dehydratase 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 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. There are several different carbonic anhydrase isoforms; these can be broadly grouped into cytosolic (CA I, CA II, CA III, CA VII, CA XIII), mitochondrial (CA VA, CA VB), secreted (CA VI) and membrane-associated (CA IV, CA IX, CA XII, CA XIV) carbonic anhydrases. The functions of the remaining carbonic anhydrases are yet to be elucidated. Expression of the membrane-bound carbonic anhydrase, CA IX, has been reported in hypoxic tumors where its activity is linked to promoting survival of tumor cells and aiding cancer progression. This is thought to occur through the carbonic anhyrase-mediated production of bicarbonate ions, which neutralizes the abnormally acidic pH of the extracellular environment induced during hypoxia. Furthermore, as CA IX is a hypoxia- and HIF-1-inducible enzyme, its expression can be used as a biomarker for hypoxic tumors.

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

Genomic Location for CA2 Gene

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 Lys18, Lys39, Lys45, Lys80, Lys158, and Lys224
  • Modification sites at PhosphoSitePlus

Other Protein References for CA2 Gene

ENSEMBL proteins:
Reactome Protein details:
REFSEQ proteins:

Domains for CA2 Gene

Gene Families for CA2 Gene

HGNC:
  • CA :Carbonic anhydrases

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 :
  • P00918
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

miRNA for CA2 Gene

No data available for Animal Models , Transcription Factor Targeting 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
cytosol 4
chloroplast 2
cytoskeleton 2
endoplasmic reticulum 2
extracellular 2
mitochondrion 2
nucleus 2
plasma membrane 2
peroxisome 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 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

Compounds for CA2 Gene

(1) Tocris Compounds for CA2 Gene

Compound Action Cas Number
U 104 Potent carbonic anhydrase (CA) IX and XII inhibitor [178606-66-1]

(6) HMDB Compounds for CA2 Gene

Compound Synonyms Cas Number PubMed IDs
Carbon dioxide
  • Carbon oxide
124-38-9
Carbonic acid
  • acid of air
463-79-6
Hydrochlorothiazide
  • 3,4-Dihydrochlorothiazide
58-93-5
Topiramate
  • Epitomax
97240-79-4
Water
  • Dihydrogen oxide
7732-18-5

(89) Novoseek inferred chemical compound relationships for CA2 Gene

Compound -log(P) Hits PubMed IDs
sulfonamide 83.2 22
dansylamide 82.9 5
benzenesulfonamide 79.9 8
p-nitrophenyl acetate 79.5 1
4-carboxybenzenesulfonamide 78.6 2
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 expression in embryonic tissues and stem cells from LifeMap Discovery

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

This gene is overexpressed in Colon - Transverse (9.4) and Stomach (7.4).

Integrated Proteomics: protein expression 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 expressions with CA2: view

No data available for mRNA Expression by UniProt/SwissProt 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
chimpanzee
(Pan troglodytes)
Mammalia CA2 35
  • 99.62 (n)
  • 98.85 (a)
CA2 36
  • 99 (a)
OneToOne
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
oppossum
(Monodelphis domestica)
Mammalia -- 36
  • 60 (a)
OneToMany
-- 36
  • 56 (a)
OneToMany
platypus
(Ornithorhynchus anatinus)
Mammalia CA2 36
  • 72 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Car2 35
  • 81.03 (n)
  • 80.77 (a)
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
African clawed frog
(Xenopus laevis)
Amphibia ca2-prov 35
tropical clawed frog
(Silurana tropicalis)
Amphibia ca2 35
  • 64.74 (n)
  • 63.08 (a)
zebrafish
(Danio rerio)
Actinopterygii ca2 36
  • 62 (a)
ManyToMany
cahz 35
cahz 36
  • 63 (a)
ManyToMany
fruit fly
(Drosophila melanogaster)
Insecta CAH1 36
  • 45 (a)
OneToMany
CG11284 37
  • 35 (a)
CAH1 37
  • 45 (a)
CG6074 37
  • 33 (a)
CG6906 37
  • 36 (a)
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

Selected 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
rs1389244 -- 85,475,370(-) tttta(A/G)agtca intron-variant
rs2172493 -- 85,472,736(-) CGGGA(A/T)TACAG intron-variant
rs2201257 -- 85,475,364(-) agtca(A/G)agtct intron-variant

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

Variant ID Type Subtype PubMed ID
nsv831377 CNV Gain 17160897

Relevant External Links for CA2 Gene

HapMap Linkage Disequilibrium report
CA2
Human Gene Mutation Database (HGMD)
CA2
Locus Specific Mutation Databases (LSDB)
CA2

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

Disorders for CA2 Gene

(1) OMIM Diseases for CA2 Gene (611492)

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.

(4) University of Copenhagen DISEASES for CA2 Gene

(56) Novoseek inferred disease relationships for CA2 Gene

Disease -log(P) Hits PubMed IDs
acidosis renal tubular 86.5 27
osteopetrosis 83.3 37
osteopetrosis, autosomal recessive 61.4 2
distal renal tubular acidosis 51.1 1
calcification 47.9 20

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

Publications for CA2 Gene

  1. 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) 3 4 23 25
  2. Molecular basis of human carbonic anhydrase II deficiency. (PMID: 1542674) Roth D.E. … Sly W.S. (Proc. Natl. Acad. Sci. U.S.A. 1992) 3 4 23
  3. Carbonic anhydrase II deficiency syndrome in a Belgian family is caused by a point mutation at an invariant histidine residue (107 His-->Tyr): complete structure of the normal human CA II gene. (PMID: 1928091) Venta P.J. … Tashian R.E. (Am. J. Hum. Genet. 1991) 3 4 23
  4. Structural influence of hydrophobic core residues on metal binding and specificity in carbonic anhydrase II. (PMID: 11076507) Cox J.D. … Christianson D.W. (Biochemistry 2000) 3 4 23
  5. Regulation of the human NBC3 Na+/HCO3- cotransporter by carbonic anhydrase II and PKA. (PMID: 14736710) Loiselle F.B. … Casey J.R. (Am. J. Physiol. 2004) 3 4 23

Products for CA2 Gene

Sources for CA2 Gene

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