NLR Family, Pyrin Domain-Containing 2

Alternative Names

  • NLRP2
  • NACHT Domain-, Leucine-Rich Repeat-, and PYD-Containing Protein 2
  • NALP2
  • Pyrin Domain- And NACHT Domain-Containing Protein 1
  • PAN1
  • Pyrin Domain-Containing APAF1-Like Protein 2
  • PYPAF2
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OMIM Number

609364

NCBI Gene ID

55655

Uniprot ID

Q9NX02

Length

35,855 bases

No. of Exons

14

No. of isoforms

5

Protein Name

NACHT, LRR and PYD domains-containing protein 2

Molecular Mass

120515 Da

Amino Acid Count

1062

Genomic Location

chr19:54,965,283-55,001,137

Gene Map Locus
19q13.42

Description

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. [From RefSeq]

Epidemiology in the Arab World

View Map
Variant NameCountryGenomic LocationClinvar Clinical SignificanceCTGA Clinical Significance Condition(s)HGVS ExpressionsdbSNPClinvar
NM_017852.4:c.2672G>TLebanonNC_000019.10:g.54990636G>TUncertain SignificanceFamilial Mediterranean FeverNG_052633.1:g.42507G>T; NM_017852.4:c.2672G>T; NP_060322.1:p.Gly891Val2072412386
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