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FLASH GENE
Symbol CA8 contributors: mct/npt - updated : 25-05-2016
HGNC name carbonic anhydrase VIII
HGNC id 1382
Corresponding disease
CHQL3 cerebellar hypoplasia and quadrupedal locomotion 3
Location 8q12.2      Physical location : 61.101.422 - 61.193.954
Synonym name
  • carbonic anhydrase related protein
  • CA-related protein
  • Synonym symbol(s) CALS, CARP, CA-VIII, MGC120502, MGC99509, CAR8, CA-RP, CAMRQ3
    EC.number 4.2.1.1
    DNA
    TYPE functioning gene
    STRUCTURE 94.05 kb     9 Exon(s)
    10 Kb 5' upstream gene genomic sequence study
    MAPPING cloned Y linked N status provisional
    Physical map
    MOS 8q11 v-mos Moloney murine sarcoma viral oncogene homolog PLAG1 8q12 pleiomorphic adenoma gene 1 MGC2217 RDH-E2 8q12.1 retinal short chain dehydrogenase reductase PENK 8q11.23-q12 proenkephalin LOC389662 8 similar to septin 10 isoform 1 LOC346950 8q11.23 similar to ribosomal protein L37 FLJ20421 8q11.23 hypothetical protein FLJ20421 DKFZP434F122 8q12.1 DKFZP434F122 protein LOC389663 8 similar to hypothetical protein MGC39325 8q12.1 hypothetical protein MGC39325 LOC137886 8q12.1 hypothetical protein LOC137886 CYP7A1 8q11-q12 cytochrome P450, family 7, subfamily A, polypeptide 1 LOC137885 8q12.1 similar to peptidylprolyl isomerase A SDCBP 8q12 syndecan binding protein (syntenin) NSMAF 8q12-q13 neutral sphingomyelinase (N-SMase) activation associated factor TOX 8q11.23 neutral sphingomyelinase (N-SMase) activation associated factor CA8 8q11-q12 carbonic anhydrase VIII LOC392225 8 similar to IAP-associated factor VIAF1; phosducin-like 2 RAB2 8q12.1 RAB2, member RAS oncogene family KIAA1416 8q12.1 KIAA1416 protein LOC282694 LOC157813 8q12.2 hypothetical LOC157813 NPM1P6 8q12.2 nucleophosmin 1 (nucleolar phosphoprotein B23, numatrin) pseudogene 6 MGC34646 8q12.2 hypothetical protein MGC34646 ASPH 8q12.1 aspartate beta-hydroxylase LOC392226 8 similar to Serine/threonine-protein kinase PLK (PLK-1) (Serine-threonine protein kinase 13) (STPK13) FLJ39630 8q12.2 hypothetical protein FLJ39630 GGH 8q12-q13 gamma-glutamyl hydrolase (conjugase, folylpolygammaglutamyl hydrolase) TTPA 8q13 tocopherol (alpha) transfer protein (ataxia (Friedreich-like) with vitamin E deficiency) FLJ31657 8q12.2 hypothetical protein FLJ31657 LOC346974 8q12.3 similar to Interferon-induced transmembrane protein 3 (Interferon-inducible protein 1-8U)
    RNA
    TRANSCRIPTS type messenger
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    9 - 2278 32.9 290 - 2007 17219437
    - - 3922 - 290 - 2007 17219437
    - - 3972 - 263 - 2007 17219437
    - - 5654 - 258 - 2007 17219437
    EXPRESSION
    Type widely
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Nervousbrainhindbraincerebellum highly Homo sapiens
    cells
    SystemCellPubmedSpeciesStageRna symbol
    NervousPurkinje cell Homo sapiens
    Visualbipolar cell Mus musculus
    cell lineage
    cell lines
    fluid/secretion
    at STAGE
    physiological period embryo
    Text in the neuroprogenitor cells in the subventricular zone as early as the 84th day of gestation and subsequently detected in the neural cells migrating to the cortex
    PROTEIN
    PHYSICAL PROPERTIES
    STRUCTURE
    motifs/domains
    conjugated MetalloP
    HOMOLOGY
    interspecies ortholog to murine Carp
    homolog to murine Cals1
    Homologene
    FAMILY
  • eukariotic-type anhydrase family
  • CATEGORY enzyme
    SUBCELLULAR LOCALIZATION     intracellular
    intracellular,cytoplasm,organelle,endoplasmic reticulum
    text in Purkinje cells with ITPR1
    basic FUNCTION
  • carbonic anhydrase VIII, putatively involved in nerve function
  • reversibly hydrating Co2 in cellular ion transport and pH homeostasis
  • playing roles in various biological process of the CNS
  • playing a role in the growth of colon cancer cells
  • autoantigen involved in the pathogenesis of melanoma-associated paraneoplastic cerebellar degeneration
  • is selectively expressed within neural circuits, and may be important for modulating retinal neurotransmission
  • specific role of CA8 to protect cells from stresses 3)
  • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling
    a component
    INTERACTION
    DNA
    RNA
    small molecule metal binding,
  • Zn2+
  • protein
  • ITPR1-binding protein (binding site located within the modulatory domain of ITPR1 amino acids 1387-1647)
  • CA8 is a novel important regulator of Purkinje cell dendritic development and that its expression is controlled by PRKCG activity
  • CA8 is an allosteric inhibitor of ITPR1, which regulates intracellular calcium release fundamental to critical cellular functions including neuronal excitability, neurite outgrowth, neurotransmitter release
  • CA8 is a novel important regulator of Purkinje cell dendritic development and that its expression is controlled by PRKCG activity
  • might facilitate cancer cell invasion via the activation of PTK2-MMP9 signaling
  • cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s) CHQL3
    Other morbid association(s)
    TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
    tumoral     --over  
    in colorectal carcinoma
    tumoral     --over  
    of CA8 in human osteosarcoma cells significantly increased cell proliferation
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    SystemTypeDisorderPubmed
    miscelleaneouspain 
    CA8 and ITPR1 represent new therapeutic targets for chronic pain
    ANIMAL & CELL MODELS