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FLASH GENE
Symbol DEFA6 contributors: mct - updated : 21-01-2015
HGNC name defensin, alpha 6, Paneth cell-specific
HGNC id 2765
PROTEIN
PHYSICAL PROPERTIES
STRUCTURE
motifs/domains
six disulfide-linked cysteines
HOMOLOGY
Homologene
FAMILY
  • cortactin/ defensin family
  • alpha-defensin family
  • CATEGORY immunity/defense
    SUBCELLULAR LOCALIZATION extracellular
        intracellular
    intracellular,cytoplasm,organelle,lumen
    intracellular,cytoplasm,organelle,Golgi
    intracellular,cytoplasm,cytosolic,vesicle
    text
  • azurophil granules
  • secreted DEFA6 will accumulate in the crypt and pericellular space beneath the mucus layer, and host proteins in this location are heavily glycosylated, leaving microbial intruders as the prime targets for DEFA6 binding
  • basic FUNCTION
  • cysteine-arginine rich antimicrobial peptide, may be involved in mounting antimicrobial defenses in the small bowel
  • unusual biological inactivity of DEFA6 may be associated with its structural properties, somewhat standing out when compared with other human alpha-defensins
  • in contrast to the other defensins, it lacks appreciable bactericidal activity
  • key role for DEFA6 in protecting the small intestine against invasion by diverse enteric pathogens
  • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling
    a component
  • DEFA6 forms higher-order assemblages with slower kinetics of association and dissociation, whereas DEFA5 and other alpha-defensins rapidly (and reversibly) form dimeric complexes
  • INTERACTION
    DNA
    RNA
    small molecule
    protein
    cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s)
    Other morbid association(s)
    TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
    constitutional     --low  
    in Crohn disease of the ileum
    tumoral     --over  
    in colon adenoma the gene expression analysis revealed a 100 fold increased median expression of DEFA6 relative to normal colon tissue
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
  • expression of DEFA6 preferably can be used as a potential diagnostic marker for adenoma and not as a marker for fully blown carcinoma
  • Therapy target
    ANIMAL & CELL MODELS