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FLASH GENE
Symbol DEFB103B contributors: mct - updated : 03-02-2016
HGNC name defensin, beta 103B
HGNC id 31702
Location 8p23.1      Physical location : -
Synonym name
  • beta-defensin 3
  • defensin-like protein
    • Synonym symbol(s) BD-3, BD3, DEFB-3, DEFB103, HBD3, DEFB3, HBD-3, HBP-3, HBP3
    DNA
    TYPE functioning gene
    SPECIAL FEATURE arranged in tandem, component of a cluster
    text
  • located 13 kb upstream from the DEFB4 gene (Jia 2001)
  • transcribed in the same direction (Jia 2001)
    • STRUCTURE 1.46 kb     2 Exon(s)
    MAPPING cloned Y linked N status provisional
    Map pter - D8S1819 - D8S1706 - DEFB103B - D8S1825 - D8S516 - cen
    Authors UCSC (2009)
    RNA
    TRANSCRIPTS type messenger
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    2 - 518 7.6 67 - 2001 11085990
  • a 22 aa signal peptide
  • a 45 aa mature peptide
    		•
    EXPRESSION
    Type
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Cardiovascularheart    
    Lymphoid/Immunetonsils   highly
    Reproductivefemale systemplacenta    Homo sapiens
    Skin/Tegumentskin   predominantly Homo sapiens
    tissue
    SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
    Muscularstriatumskeletal  
    cells
    SystemCellPubmedSpeciesStageRna symbol
    Skin/Tegumentkeratinocyte Homo sapiens
    cell lineage
    cell lines
    fluid/secretion
    at STAGE
    physiological period fetal
    Text thymus
    PROTEIN
    PHYSICAL PROPERTIES
    STRUCTURE
    motifs/domains
    HOMOLOGY
    interspecies homolog to rattus Defb14 (67.2 pc)
    homolog to murine Defb14 (68.7 pc)
    Homologene
    FAMILY
  • beta-defensin family
    • CATEGORY immunity/defense
    SUBCELLULAR LOCALIZATION extracellular
    intracellular,cytoplasm,organelle,lumen
    intracellular,cytoplasm,organelle,Golgi
    basic FUNCTION
  • exhibiting antimicrobial activity against many potentially pathogenic microbes including multiresistant S. aureus and vancomycin-resistant Enterococcus faecium (Harder 2001)
  • involved in positive regulation of biosynthetic process of antibacterial peptides active against Gram-positive bacteria (Harder 2001)
  • is an inducible epithelial peptide antibiotic that has potent antistaphylococcal activity
  • TLR signaling is not restricted to recognition of microbial patterns but also can be initiated by host-derived peptides such as DEFB103B
  • small antimicrobial polypeptide mainly expressed by epithelial cells and playing an important role in the antimicrobial innate immune response
  • dual role for DEFB103B in antimicrobial activity and resolution of inflammation
  • inhibits the transcription of pro-inflammatory genes
  • mechanism of DEFB103B anti-inflammatory activity involves specific targeting of TLR signaling pathways resulting in transcriptional repression of pro-inflammatory genes
  • DEFB103B may be a novel MC1R agonist involved in regulating melanocyte responses in humans
  • epithelial cell-derived antimicrobial peptide, mediating chemotaxis and activation of myeloid cells
  • is involved in mast cell activation
    • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS immunity/defense
    PATHWAY
    metabolism
    signaling
    a component
    INTERACTION
    DNA
    RNA
    small molecule
    protein
  • role for TLR2 signaling and MAPK activation in the upregulation of DEFB103B, suggesting the innate immune capacity of skin keratinocytes under conditions of S. aureus challenge to enhance the local expression of this antistaphylococcal peptide antibiotic
  • innate antimicrobial peptide, that can induce expression of the costimulatory molecules CD80, CD86, and CD40, on monocytes and myeloid dendritic cells in a TLR-dependent manner
  • bacterial induction of DEFB103B via TLR2 and TLR4 in osteoblasts, suggesting a central role of antimicrobial peptides in the prevention of bacterial bone infection
  • inhibits the TLR4 response in both MYD88- and TICAM1-deficient macrophages
  • SFTPA1 protects lung epithelium from tissue injury caused by DEF103B
  • can both antagonize CXCR4 function on T cells and promote receptor internalization in the absence of activation
  • DEF103B acts as a neutral melanocortin receptor antagonist capable of blocking the action of either stimulatory agonists such as POMC
  • DEFB103B up-regulated the mRNA and protein expression of IL1F7
  • DEF103B induces the costimulatory molecule CD86 on primary monocytes by a mechanism involving autocrine activation of ionotropic P2RX7 by ATP
  • SFTPA1 regulate the function of DEF103B
    • cell & other
    REGULATION
    induced by infection of bacteria and by interferon gamma (Harder 2001)
    histamine inducing DEB103B production in human keratinocytes through H1 receptors by activating STAT3 and AP1 via JAK2 and MEK/ERK
    inhibited by high-glucose conditions (inhibited the DEFB103B expression of epidermal keratinocytes, which in turn contributed to the frequent occurrences of infection associated with diabetic wounding)
    ASSOCIATED DISORDERS
    corresponding disease(s)
    Other morbid association(s)
    TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
    constitutional     --over  
    in sporadic inclusion body myositis (sIBM)
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    SystemTypeDisorderPubmed
    cancerdigestivecolon
    may be a potent new agent for treating colon cancer
    ANIMAL & CELL MODELS