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FLASH GENE
Symbol C2CD4B contributors: mct - updated : 16-05-2018
HGNC name C2 calcium dependent domain containing 4B
HGNC id 33628
Location 15q22.2      Physical location : 62.455.736 - 62.457.482
Synonym name
  • nuclear localized factor 2
  • family with sequence similarity 148, member B
  • Synonym symbol(s) NLF2, FAM148B
    DNA
    TYPE functioning gene
    STRUCTURE 2.20 kb     2 Exon(s)
    MAPPING cloned Y linked N status provisional
    RNA
    TRANSCRIPTS type messenger
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    2 - 1576 - 364 - 2014 23945395
    EXPRESSION
    Type
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Digestivepancreas exocrine   highly
    Endocrinepancreas   highly
    Nervousmeninges    
    Respiratorylung    
    cell lineage
    cell lines
    fluid/secretion
    at STAGE
    PROTEIN
    PHYSICAL PROPERTIES
    STRUCTURE
    motifs/domains
    HOMOLOGY
    Homologene
    FAMILY
  • FAM148 family
  • CATEGORY regulatory
    SUBCELLULAR LOCALIZATION     plasma membrane
        intracellular
    intracellular,nucleus
    basic FUNCTION
  • C2CD4A and C2CD4B were both identified as inflammation-responsive genes in endothelial cells, suggesting that they could indeed be co-regulated
  • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling
    a component
    INTERACTION
    DNA
    RNA
    small molecule
    protein
    cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s)
    Susceptibility
  • to type 2 diabetes
  • to decreased glucose-stimulated insulin response
  • Variant & Polymorphism other
  • rs7163757 contributes to genetic risk of islet dysfunction and T2D by increasing NFAT-mediated islet enhancer activity and modulating C2CD4B, and possibly C2CD4A
  • variants at the DGKB/AGMO, ADRA2A, GLIS3 and C2CD4B loci were associated with decreased glucose-stimulated insulin response
  • Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS