Selected-GenAtlas references SOURCE GeneCards NCBI Gene Ensembl
HGNC UniGene Nucleotide OMIM UCSC
Home Page
FLASH GENE
Symbol DEFB104A contributors: KTN/npt - updated : 26-01-2009
HGNC name defensin, beta 104A
HGNC id 18115
Location 8p23.1      Physical location : 7.327.830 - 7.698.763
Synonym name defensin, beta 104
Synonym symbol(s) DEFB4, DEFB-4, DEFB104, BD-4, hBD-4, MGC118942, MGC118944, MGC118945
DNA
TYPE functioning gene
SPECIAL FEATURE component of a cluster, head to head, opposite orientation
text
  • duplication resulting in two identical copies of defensin, beta 104, DEFB104A and DEFB104B, in head-to-head orientation
  • representing the more centromeric copy
    • STRUCTURE 4.77 kb     2 Exon(s)    2 Copie(s)
    MAPPING cloned Y linked N status confirmed
    Map pter - D8S1819 - D8S1706 - DEFB104A - D8S1825 - D8S516 - cen
    Authors UCSC (2009)
    RNA
    TRANSCRIPTS type messenger
    text transcription in pter to cen direction
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    2 - 281 - 72 - -
  • a 22 aa signal peptide of 2.6 kda
  • a 50 aa mature peptide of 6 kda
    		•
    EXPRESSION
    Type restricted
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Reproductivemale systemtestis  predominantly
    cell lineage
    cell lines
    fluid/secretion
    at STAGE
    PROTEIN
    PHYSICAL PROPERTIES
    STRUCTURE
    motifs/domains
  • a 22 aa signal peptide
  • six-cysteine motif characteristic for a ß-defensin (García 2001)
    • HOMOLOGY
    Homologene
    FAMILY
  • beta defensin family
    • CATEGORY immunity/defense
    SUBCELLULAR LOCALIZATION extracellular
    basic FUNCTION
  • having antimicrobial and chemoattractant activities (García 2001)
  • having synergistic effects with lysozyme and DEFB103 (García 2001)
    • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling
    a component
    INTERACTION
    DNA
    RNA
    small molecule
    protein
    cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s)
    Other morbid association(s)
    TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
    constitutional   amplification    
    higher genomic copy number associated with risk of psoriasis
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS