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FLASH GENE
Symbol CA2 contributors: mct - updated : 13-04-2018
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
    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
  • rotative stress has a significant effect on CA2, FAS, FASLG, OSCAR, and TRAP gene expression in osteoclasts
    • 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
  • both LDB1 and CTCF are required for enhancer-CA2 looping, and the domain of LDB1 contacted by CTCF is necessary to rescue CA2 transcription in LDB1-deficient cells
    • 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