NLRP2
Sign in to saveAlso known as CLR19.9, NALP2, NBS1, PAN1, PYPAF2, NLR family, pyrin domain containing 2, NLR family pyrin domain containing 2
NACHT, LRR and PYD domains-containing protein 2 is a protein that in humans is encoded by the NLRP2 gene.
Gene data
NLRP2- Name
- NLR family pyrin domain containing 2
- Type
- protein-coding
- Aliases
- CLR19.9, NALP2, NBS1, OZEMA18, PAN1, PYPAF2
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].
via MyGene.info
Gene · Ensembl
NLR family pyrin domain containing 2
- Symbol
- NLRP2
- Biotype
- Protein coding
- Organism
- Homo sapiens
- Location
- Chr HSCHR19LRC_LRC_T_CTG3_1:883,649-919,505
- Strand
- Forward (+)
- Assembly
- GRCh38
via Ensembl · EMBL-EBI
Wikidata facts
Show 5 more facts
- exact match
- identifiers.org/ncbigene/55655
- HomoloGene ID
- 56789
- genomic start
- 55464498
- genomic end
- 55512510
- cytogenetic location
- 19q13.42
Sources (3)
via Wikidata · CC0
~3 min read
Article
5 sectionsContents
- Function
- Discovery
- Mutation and infertility
- References
- Further reading
NACHT, LRR and PYD domains-containing protein 2 is a protein that in humans is encoded by the NLRP2 gene.
NALP proteins, such as NALP2, are characterized by an N-terminal pyrin domain (PYD) and are involved in the activation of caspase-1 (CASP1; MIM 147678) by Toll-like receptors(see TLR4). They may also be involved in protein complexes that activate proinflammatory caspases (Tschopp et al., 2003).[supplied by OMIM]