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FLASH GENE
Symbol DEFB4A contributors: mct - updated : 17-08-2011
HGNC name defensin, beta 4A
HGNC id 2767
PROTEIN
PHYSICAL PROPERTIES
STRUCTURE
motifs/domains
  • cysteine-arginine rich antimicrobial peptide
  • six disulfide-linked cysteines
    • HOMOLOGY
    interspecies homolog to C.elegans Y51a2d.14
    Homologene
    FAMILY
  • beta-defensin family
    • CATEGORY immunity/defense , signaling
    SUBCELLULAR LOCALIZATION extracellular
    basic FUNCTION
  • antibiotic, oxygen independent, phagocytic, active against Gram+, Gram- bacteria
  • having the ability to stimulate odontoblast differentiation in addition to role in inflammation
  • facilitates cholinergic Ca(2+)-regulated epithelial Cl(-) secretion (specific interaction of antimicrobial peptides with epithelial function)
  • plays important roles in the innate and adaptive immune system of both vertebrates and invertebrates
    • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling
    a component
    INTERACTION
    DNA
    RNA
    small molecule
    protein
  • bound to a range of GAGs including heparin/heparan sulfate (HS), dermatan sulfate (DS), and chondroitin sulfate (
    • cell & other
    REGULATION
    induced by inflammation
    Other upregulated by IL1B
    regulated by SPHK1 in oral keratinocytes
    ASSOCIATED DISORDERS
    corresponding disease(s)
    Other morbid association(s)
    TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
    tumoral     --over  
    in colon carcinoma
    tumoral     --over  
    in human lung cancer, and expression levels may depend on differentiation grade of lung adenocarcinoma (
    constitutional     --over  
    in systemic lupus erythematosus
    Susceptibility
  • low copy number may predispose to Crohn disease
  • high copy number is associated to psoriasis
    • Variant & Polymorphism other low beta-defensin gene copy number in Crohn disease was clearly associated with colonic disease localization, a normal beta-defensin copy number distribution was seen in Crohn disease of the ileum and also in ulcerative colitis
    Candidate gene
    Marker second trimester amniotic fluid DEB4A might be a predictor of premature rupture of membranes
    Therapy target
    ANIMAL & CELL MODELS