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FLASH GENE
Symbol GC contributors: mct - updated : 22-01-2020
HGNC name group-specific component (vitamin D binding protein)
HGNC id 4187
Location 4q13.3      Physical location : 72.607.412 - 72.649.888
Synonym name
  • alglucerase
  • imiglucerase
  • beta-glucocerebrosidase
  • vitamin D-binding alpha-globulin
  • acid beta-glucosidase
    • Synonym symbol(s) VDBG, DBP, VDBP, GLUC, DBP/GC, DBP-maf, GRD3, Gc-MAF, HEL-S-51, VDB
    EC.number 6.4.-.-, 3.2.1.45
    DNA
    TYPE functioning gene
    STRUCTURE 63.83 kb     13 Exon(s)
    10 Kb 5' upstream gene genomic sequence study
    MAPPING cloned Y linked Y status confirmed
    RNA
    TRANSCRIPTS type messenger
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    13 - 1685 51.2 474 - 1992 1352271
    14 - 1895 - 474 - 1992 1352271
    14 - 1832 - 493 - 1992 1352271
    EXPRESSION
    Type
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Visualeyeanterior segmentcornea  
    tissue
    SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
    Blood / Hematopoietic    
    cell lineage
    cell lines
    fluid/secretion plasma, cerebro spinal fluid, urine, ascitic fluid
    at STAGE
    PROTEIN
    PHYSICAL PROPERTIES
    STRUCTURE
    motifs/domains
  • three albumin domains
    • conjugated GlycoP
    HOMOLOGY
    interspecies ortholog to murine Gc
    homolog to C.elegans ZC482.5
    Homologene
    FAMILY
  • albumin family (ALB/AFP/VDB)
  • glycosyl hydrolase 30 family
    • CATEGORY enzyme , transport carrier
    SUBCELLULAR LOCALIZATION extracellular
        plasma membrane
        intracellular
    intracellular,cytoplasm,organelle,lumen
    intracellular,cytoplasm,organelle,lysosome
    intracellular,cytoplasm,cytosolic
    text secreted
    basic FUNCTION
  • transporting vitamin D and its plasma metabolites to target tissues
  • VDR, NADSYN1, and GC polymorphisms may be linked to the manifestation of vitamin D deficiency in Japanese children
  • may play an important role in the progression of endometriosis
  • is the primary carrier of vitamin D in the circulation and regulates the bioavailability of 25-hydroxyvitamin D
  • controls T cell responses to vitamin D
    • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    text vitamin/cofactor transport
    PATHWAY
    metabolism
    signaling
    a component
    INTERACTION
    DNA
    RNA
    small molecule
    protein
  • binding to vitamin D and actin monomer
    • cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s)
    Other morbid association(s)
    TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
    constitutional     --over  
    significantly increased in the ectopic endometrial tissue compared with that in the normal endometrial tissue
    constitutional     --low  
    is confirmed and marked in multivessel disease patients
    Susceptibility
  • to obstructive sleep apnea syndrome (OSAS)
  • to epilepsy
  • to Parkinson disease(PD)
  • to inflammatory bowel diseases (IBDs)
    • Variant & Polymorphism other
  • VDBP mutations were found highly related with OSAS
  • polymorphisms of GC rs4588 and rs2282679 may play a potentially important role in epilepsy susceptibility in Chinese Han population
  • rs7041 of GC is associated with the PD risk
  • GC concentrations are inversely associated with hyperinsulinemia and insulin resistance
  • haplotype DBP_2, consisting of 416 Asp and 420 Lys, was more frequent in the non-IBD population
    • Candidate gene
    Marker
  • high plasma GC predicts lower incidence of gastrointestinal and ear infections in school-age children independent of 25(OH)D
  • higher (versus lower) circulating GC may be independently associated with a decreased prostate cancer risk in black men independent of 25(OH)D status
  • could be an autoantigen in T1 Diabetes
  • GC gene polymorphism could be a potential marker for screening of chronic obstructive pulmonary disease (COPD)
  • urinary GC may be a novel urinary biomarker of tubulointerstitial damage
    • Therapy target
    ANIMAL & CELL MODELS