Aliases for NLRP2 Gene
External Ids for NLRP2 Gene
Previous HGNC Symbols for NLRP2 Gene
Previous GeneCards Identifiers for NLRP2 Gene
This gene is a member of the nucleotide-binding and leucine-rich repeat receptor (NLR) family, and is predicted to contain an N-terminal pyrin effector domain (PYD), a centrally-located nucleotide-binding and oligomerization domain (NACHT) and C-terminal leucine-rich repeats (LRR). Members of this gene family are thought to be important regulators of immune responses. This gene product interacts with components of the IkB kinase (IKK) complex, and can regulate both caspase-1 and NF-kB (nuclear factor kappa-light-chain-enhancer of activated B cells) activity. The pyrin domain is necessary and sufficient for suppression of NF-kB activity. An allelic variant (rs147585490) has been found that is incapable of blocking the transcriptional activity of NF-kB. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Dec 2016]
GeneCards Summary for NLRP2 Gene
NLRP2 (NLR Family Pyrin Domain Containing 2) is a Protein Coding gene. Diseases associated with NLRP2 include Beckwith-Wiedemann Syndrome and Gestational Trophoblastic Neoplasm. Among its related pathways are Nucleotide-binding Oligomerization Domain (NOD) pathway. Gene Ontology (GO) annotations related to this gene include Pyrin domain binding. An important paralog of this gene is NLRP7.
UniProtKB/Swiss-Prot Summary for NLRP2 Gene
Suppresses TNF- and CD40-induced NFKB1 activity at the level of the IKK complex, by inhibiting NFKBIA degradation induced by TNF. When associated with PYCARD, activates CASP1, leading to the secretion of mature proinflammatory cytokine IL1B. May be a component of the inflammasome, a protein complex which also includes PYCARD, CARD8 and CASP1 and whose function would be the activation of proinflammatory caspases.