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FLASH GENE
Symbol CA12 contributors: mct - updated : 02-12-2010
HGNC name carbonic anhydrase XII
HGNC id 1371
Corresponding disease
HPCLD hyperchlorhidrosis
Location 15q22.2      Physical location : 63.615.730 - 63.674.075
Synonym name
  • carbonic anhydrase XII isoform 1 precursor
  • tumor antigen HOM-RCC-3.1.3
  • carbonic dehydratase
  • Synonym symbol(s) CAXII, FLJ20151, HsT18816
    EC.number 4.2.1.1
    DNA
    TYPE functioning gene
    STRUCTURE 61.08 kb     11 Exon(s)
    10 Kb 5' upstream gene genomic sequence study
    MAPPING cloned Y linked N status provisional
    RNA
    TRANSCRIPTS type messenger
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    11 - 3992 - 354 - 2010 21035102
    10 - 3959 - 343 - 2010 21035102
    EXPRESSION
    Type
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Digestivemouth    
     salivary gland    
    Endocrinepancreas    
    Urinarykidney    
    tissue
    SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
    Epithelialsecretoryglandularendocrine 
    Epithelialsecretoryglandularexocrine 
    cell lineage
    cell lines
    fluid/secretion
    at STAGE
    physiological period embryo
    Text expression is restricted to cells involved in secretion and water absorption such as parietal cells of the stomach, acinar cells of the salivary glands and pancreas, epithelium of the large intestine, and renal tubules
    PROTEIN
    PHYSICAL PROPERTIES
    STRUCTURE
    motifs/domains
  • a N terminal signal sequence a CA extracellular domain including three Zn-binding histidine residues
  • a C terminal transmembrane segment
  • conjugated MetalloP
    isoforms Precursor with a truncated form (tumor associated)
    HOMOLOGY
    Homologene
    FAMILY
  • eukaryotic-type carbonic anhydrase family
  • alpha carbonic anhydrase (CA) family
  • CATEGORY enzyme
    SUBCELLULAR LOCALIZATION     intracellular
    intracellular,cytoplasm,cytosolic
    text type 1 membrane protein
    basic FUNCTION
  • reversibly hydrating CO2 in cellular ion transport and pH homeostasis
  • zinc metalloenzyme responsible for acidification of the microenvironment of cancer cells
  • CA12 with CA9 are major tumor prosurvival pH-regulating enzymes, and their combined targeting shows that they hold potential as anticancer targets
  • extracellular enzyme involved in the regulation of the microenvironment acidity and tumor malignant phenotype
  • may affect the capability of invasion and migration of breast cancer cells, which may be mediated through the MAPK14 pathway
  • play a central role in osteoclast function and bone remodeling by catalyzing the formation of bicarbonate and proton from carbon dioxide
  • zinc metalloenzyme that catalyzes the reversible hydration of carbon dioxide to form a bicarbonate anion and a proton
  • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling
    a component
    INTERACTION
    DNA
    RNA
    small molecule metal binding,
    zinc Zn2+
    protein
    cell & other
    REGULATION
    Other robustly regulated by estrogen via ER alpha in breast cancer cells, and this regulation involves a distal estrogen-responsive enhancer region
    ASSOCIATED DISORDERS
    corresponding disease(s) HPCLD
    Other morbid association(s)
    TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
    tumoral       gain of function
    in osteoclast-like cells in advanced atherosclerotic plaques
    tumoral     --other  
    commonly expressed in diffuse astrocytomas and that it might be used as a biomarker of poor prognosis
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS