Selected-GenAtlas references SOURCE GeneCards NCBI Gene Swiss-Prot Orphanet Ensembl
HGNC UniGene Nucleotide OMIM UCSC
Home Page
FLASH GENE
Symbol CA2 contributors: mct - updated : 05-10-2009
HGNC name carbonic anhydrase II
HGNC id 1373
Corresponding disease
CA2 osteopetrosis with renal tubular acidosis and cerebral calcifications
Location 8q21.2      Physical location : 86.376.130 - 86.393.721
Synonym name
  • carbonate dehydratase II
  • carbonic anhydrase C
  • carbonic anhydrase B
  • Synonym symbol(s) Car2, CA-II, CAII
    EC.number 4.2.1.1
    DNA
    TYPE functioning gene
    STRUCTURE 17.59 kb     7 Exon(s)
    10 Kb 5' upstream gene genomic sequence study
    MAPPING cloned Y linked N status confirmed
    Physical map
    LOC392241 8 similar to tropomyosin 3, gamma LOC138046 8q21.13 hypothetical protein LOC138046 KIAA1764 8q21.13-q21.2 KIAA1764 protein E2F5 8q21.13 E2F transcription factor 5, p130-binding MGC59868 CA1 8q13-q22.1 carbonic anhydrase I CA3 8q13-q22.1 carbonic anhydrase III, muscle specific CA2 8q13-q22.1 carbonic anhydrase II LOC392242 8 hypothetical gene supported by NM_172239 GOR 8q21.2 exonuclease GOR LOC392243 8 hypothetical gene supported by NM_172239 LOC392244 8 hypothetical gene supported by NM_172239 LOC392245 8 hypothetical gene supported by NM_172239 LOC392246 8 hypothetical gene supported by NM_172239 LOC392247 8 hypothetical gene supported by NM_172239 LOC392248 8 similar to large subunit ribosomal protein L36a LOC392249 8 similar to 60S ribosomal protein L32 PSKH2 8q21.2 serine/threonine kinase PSKH2 ATP6V0D2 8q21.13 ATPase, H+ transporting, lysosomal 38kDa, V0 subunit d isoform 2 SLC7A13 8q21.2 solute carrier family 7, (cationic amino acid transporter, y  system) member 13 WWP1 8q21 solute carrier family 7, (cationic amino acid transporter, y  system) member 13 CGI-90 8q21.2 CGI-90 protein CPNE3 8q22.1-q22.2 copine III CNGB3 8q21-q22 cyclic nucleotide gated channel beta 3
    RNA
    TRANSCRIPTS type messenger
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    7 - 1666 - 260 - -
    EXPRESSION
    Type widely
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Digestiveintestinesmall intestine  highly
     stomach   highly
    Nervousplexus choroid    
    Reproductivefemale systemovary  highly
    Urinarykidney   highly
    tissue
    SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
    Connectivebone   
    cells
    SystemCellPubmedSpeciesStageRna symbol
    Nervousoligodendrocyte
    Skeletonosteoclast
    cell lineage
    cell lines
    fluid/secretion
    at STAGE
    PROTEIN
    PHYSICAL PROPERTIES
    STRUCTURE
    motifs/domains
    conjugated MetalloP
    HOMOLOGY
    interspecies homolog to murine Car2 (80.8pc)
    homolog to rattus Car2 (80.8pc)
    Homologene
    FAMILY
  • alpha carbonic anhydrase family
  • CATEGORY enzyme
    SUBCELLULAR LOCALIZATION     intracellular
    intracellular,cytoplasm,cytosolic
    basic FUNCTION
  • reversibly hydrating CO2 in cellular ion transport and homeostasis
  • required for the Ca2+-regulated exocytosis of secretory vesicles
  • essential for bone resorption and osteoclast differentiation
  • regulating SLC9A1 activity via a phosphorylation-regulated CAII binding site in SLC9A1 tail
  • may be involved in the development of brain
  • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS exocytosis transport
    PATHWAY
    metabolism
    signaling
    a component
    INTERACTION
    DNA
    RNA
    small molecule cofactor,
  • Zn2+
  • protein
  • interacting with SLC4A4 a,d thus regulating its transporter activity
  • CA2 interacts at high affinity with the C-terminal (Ct) domains of SLC4A8, but can bind to GST-SLC4-Ct fusion proteins only when the CA2 is immobilized and the fusion protein is soluble, and not vice versa
  • cell & other
    REGULATION
    induced by during chondrogenesis
    inhibited by zonisamides
    sulfonamides incorporating thioureido-sulfanilyl scaffolds
    Other regulated by extracellular signal-regulated protein kinase, protein kinase C, and p38 kinase, signaling molecules known to regulate chondrogenesis
    ASSOCIATED DISORDERS
    corresponding disease(s) CA2
    Other morbid association(s)
    TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
    constitutional       gain of function
    in osteoclast-like cells in advanced atherosclerotic plaques
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS