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FLASH GENE
Symbol NLRP2 contributors: mct/npt - updated : 27-11-2020
HGNC name NLR family, pyrin domain containing 2
HGNC id 22948
Location 19q13.42      Physical location : 55.476.651 - 55.512.508
Synonym name
  • PYRIN-containing APAF1-like
  • NACHT-LRR-PYD containing protein 2
  • NACHT, leucine rich repeat and PYD containing 2
  • PYRIN-Containing APAF1-like
  • nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 2
  • caterpiller (CARD, Transcription Enhancer, R (purine)-binding, Pyrin, Lots of Leucine Repeats) 19.9
  • Synonym symbol(s) PYPAF2, FLJ20510, PAN1, CLR19.9, NALP2, NBS1
    DNA
    TYPE functioning gene
    SPECIAL FEATURE component of a cluster
    text component of a cluster of PYPAF genes
    STRUCTURE 35.86 kb     13 Exon(s)
    MAPPING cloned Y linked N status confirmed
    RNA
    TRANSCRIPTS type messenger
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    13 - 3530 - 1062 - 2019 30431084
    13 - 3540 - 1062 - 2019 30431084
    13 - 3531 - 1059 - 2019 30431084
    12 - 3474 - 1040 - 2019 30431084
    14 - 3471 - 1039 - 2019 30431084
    EXPRESSION
    Type widely
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Lymphoid/Immunethymus   highly
    Reproductivefemale systemovary  highly Homo sapiens
     female systemplacenta  highly
    Respiratoryrespiratory tracttrachea  highly
    cells
    SystemCellPubmedSpeciesStageRna symbol
    Reproductivegranulosa cell Mus musculus
    Reproductiveoocyte Mus musculus
    cell lineage
    cell lines
    fluid/secretion
    at STAGE
    PROTEIN
    PHYSICAL PROPERTIES
    STRUCTURE
    motifs/domains
  • a N terminal PYN (Pyrin-PAAD-Dapin) domain
  • a nucleotide binding site (NBS-NACHT subfamily)
  • a leucine rich repeat region (LRR)
  • HOMOLOGY
    Homologene
    FAMILY
  • nucleotide binding site (NB)/LRR family of proteins
  • CATEGORY regulatory
    SUBCELLULAR LOCALIZATION     intracellular
    intracellular,cytoplasm,cytosolic
    intracellular,cytoplasm,cytoskeleton,microtubule,centrosome
    intracellular,nucleus
    intracellular,nuclear envelope,pore
    text
  • NLRP2 protein is located in the cytoplasm, nucleus and close to nuclear pores in the oocytes, as well as in the surrounding granulosa cells
  • basic FUNCTION
  • involved in the activation of pro-inflammatory caspases
  • functioning as a modulator of the activation of NF-kappaB and pro-caspase-1 in macrophages
  • 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)
  • may control NF-kappaB activation through a regulatory loop (Fontalba 2007)
  • has a previously unrecognised role in establishing or maintaining genomic imprinting in humans (Meyer 2009)
  • inhibit the NF-kappaB signaling pathway, and thus may contribute to modulate the inflammatory response, where NF-kappaB plays a major role (Fontalba 2007)
  • may play a role in regulating the trophoblastic differentiation of human pluripotent stem cells
  • NLRP2 and NLRP5 are novel mutant genes responsible for human early embryonic arrest
  • role for NLRP2 in regulating proinflammatory, profibrotic and antiapoptotic responses in proximal tubular epithelial cells (PTEC), through NFKB1 activation
  • CELLULAR PROCESS cell life, cell death/apoptosis
    PHYSIOLOGICAL PROCESS inflammation
    PATHWAY
    metabolism
    signaling signal transduction
  • NLRP2-TBK1 axis may serve as an additional signaling cascade to maintain immune homeostasis in response to viral infection
  • a component
    INTERACTION
    DNA
    RNA
    small molecule
    protein
  • binds via its PYRIN domain to ASC, an adapter protein involved in caspase-1 activation
  • inhibit the NFKB1 signaling, and thus may contribute to regulate the inflammatory response
  • cell & other
    REGULATION
    Other regulated by lipopolysaccharide (LPS) and interferons (IFNbeta and IFNgamma) in THP-1 macrophage cells
    ASSOCIATED DISORDERS
    corresponding disease(s)
    Other morbid association(s)
    TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
    constitutional     --low  
    markedly decreased in liver tissues of individuals with severe steatosis
    Susceptibility
  • to amplification of inflammatory responses
  • to variation of maternal age-associated fertility loss
  • Variant & Polymorphism other
  • polymorphism within the NACHT domain may contribute to the amplification of inflammatory responses due to a reduction of inhibitory signals on the NF-kappaB pathway (Fontalba 2007)
  • NLRP2 variants with reduced activity may contribute to maternal age-associated fertility loss
  • Candidate gene
    Marker
    Therapy target
    SystemTypeDisorderPubmed
    digestiveliversteatosis
    NLRP2 might be a potential target for developing effective therapeutic strategy to prevent NAFLD progression
    ANIMAL & CELL MODELS
  • unlike oocytes of young adult Nlrp2-deficient mice, activated oocytes of mature adult mice developed slower and largely failed to reach the blastocyst stage