Aliases for NLRP12 Gene
External Ids for NLRP12 Gene
Previous HGNC Symbols for NLRP12 Gene
Previous GeneCards Identifiers for NLRP12 Gene
This gene encodes a member of the CATERPILLER family of cytoplasmic proteins. The encoded protein, which contains an N-terminal pyrin domain, a NACHT domain, a NACHT-associated domain, and a C-terminus leucine-rich repeat region, functions as an attenuating factor of inflammation by suppressing inflammatory responses in activated monocytes. Mutations in this gene cause familial cold autoinflammatory syndrome type 2. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Mar 2013]
GeneCards Summary for NLRP12 Gene
NLRP12 (NLR Family Pyrin Domain Containing 12) is a Protein Coding gene. Diseases associated with NLRP12 include Familial Cold Autoinflammatory Syndrome 2 and Familial Cold Autoinflammatory Syndrome. Among its related pathways are Nucleotide-binding Oligomerization Domain (NOD) pathway and Toll-like Receptor Signaling Pathway. Gene Ontology (GO) annotations related to this gene include cysteine-type endopeptidase activator activity involved in apoptotic process. An important paralog of this gene is NLRP9.
UniProtKB/Swiss-Prot Summary for NLRP12 Gene
Plays an essential role as an potent mitigator of inflammation (PubMed:30559449). Primarily expressed in dendritic cells and macrophages, inhibits both canonical and non-canonical NF-kappa-B and ERK activation pathways (PubMed:15489334, PubMed:17947705). Functions as a negative regulator of NOD2 by targeting it to degradation via the proteasome pathway (PubMed:30559449). In turn, promotes bacterial tolerance (PubMed:30559449). Inhibits also the DDX58-mediated immune signaling against RNA viruses by reducing the E3 ubiquitin ligase TRIM25-mediated 'Lys-63'-linked DDX58 activation but enhancing the E3 ubiquitin ligase RNF125-mediated 'Lys-48'-linked DDX58 degradation (PubMed:30902577). Acts also as a negative regulator of inflammatory response to mitigate obesity and obesity-associated diseases in adipose tissue (By similarity).