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FLASH GENE
Symbol NLRP8 contributors: mct - updated : 01-12-2020
HGNC name NLR family, pyrin domain containing 8
HGNC id 22940
Location 19q13.43      Physical location : 56.459.197 - 56.499.994
Synonym name
  • NACHT, leucine rich repeat and PYD containing 8
  • nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 8
  • caterpiller (CARD, Transcription Enhancer, R (purine)-binding, Pyrin, Lots of Leucine Repeats)19.2
  • PYRIN and NACHT-containing protein 4
  • Synonym symbol(s) NOD16, CLR19.2, NALP8, PAN4
    DNA
    TYPE functioning gene
    SPECIAL FEATURE component of a cluster
    text component of a cluster of PYPAF genes
    STRUCTURE 40.80 kb     10 Exon(s)
    MAPPING cloned Y linked N status provisional
    RNA
    TRANSCRIPTS type messenger
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    10 - 3934 - 1048 - 2008 18648497
    10 - 3877 - 1029 - 2008 18648497
    EXPRESSION
    Type
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Reproductivefemale systemovary    Homo sapiens
     male systemtestis    Homo sapiens
    cells
    SystemCellPubmedSpeciesStageRna symbol
    Reproductiveoocyte Homo sapiens
    cell lineage
    cell lines
    fluid/secretion
    at STAGE
    PROTEIN
    PHYSICAL PROPERTIES
    STRUCTURE
    motifs/domains
  • a DAPIN domain
  • a NACHT domain
  • a leucine-rich repeat (LRR) region
  • HOMOLOGY
    Homologene
    FAMILY NALP family, caterpiller family
    CATEGORY regulatory
    SUBCELLULAR LOCALIZATION     intracellular
    intracellular,cytoplasm
    basic FUNCTION
  • implicated in the activation of caspase-1 by the Toll-like receptors (TLRs) during the cells response to microbial infection (Tschopp 2003)
  • play important roles in both mammalian innate immune system and reproductive system (Tian 2009)
  • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS inflammation
    PATHWAY
    metabolism
    signaling
    a component
    INTERACTION
    DNA
    RNA
    small molecule
    protein
    cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s)
    Susceptibility to lung cancer
    Variant & Polymorphism other rs402969, NLRP8, C > T, were identified as novel lung cancer susceptibility variants
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS