Human Gene NLRP2 (ENST00000543010.5) Description and Page Index
Description: Homo sapiens NLR family pyrin domain containing 2 (NLRP2), transcript variant 2, mRNA. (from RefSeq NM_001174081) RefSeq Summary (NM_001174081): 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]. Gencode Transcript: ENST00000543010.5 Gencode Gene: ENSG00000022556.16 Transcript (Including UTRs) Position: hg38 chr19:54,965,252-55,001,142 Size: 35,891 Total Exon Count: 13 Strand: + Coding Region Position: hg38 chr19:54,970,016-55,000,898 Size: 30,883 Coding Exon Count: 12
ID:NALP2_HUMAN DESCRIPTION: RecName: Full=NACHT, LRR and PYD domains-containing protein 2; AltName: Full=Nucleotide-binding site protein 1; AltName: Full=PYRIN domain and NACHT domain-containing protein 1; AltName: Full=PYRIN-containing APAF1-like protein 2; FUNCTION: 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. SUBUNIT: Interacts with CHUK, IKBKB and IKBKG, as well as with full-length PYCARD and with the DAPIN domain of NAPL1, but not the full-length protein. SUBCELLULAR LOCATION: Cytoplasm. TISSUE SPECIFICITY: Expressed at high levels in lung, placenta and thymus and at lower levels in ovary, intestine and brain. INDUCTION: By interferons and bacterial lipopolysaccharides (LPS). DOMAIN: The DAPIN domain is necessary and sufficient for suppression of NFKB1 activation induced by TNF and for inducing IL1B secretion in collaboration with caspase-1. It is involved in interaction with PYCARD. DOMAIN: When isolated, the NACHT domain is involved in interaction with CARD8. This interaction is not detected for the full-length protein, maybe due to autoinhibition, this inhibition might by relieved by an inducible change in protein folding. SIMILARITY: Belongs to the NLRP family. SIMILARITY: Contains 1 DAPIN domain. SIMILARITY: Contains 8 LRR (leucine-rich) repeats. SIMILARITY: Contains 1 NACHT domain. SEQUENCE CAUTION: Sequence=AAG15253.1; Type=Erroneous initiation; Sequence=BAA91377.1; Type=Erroneous initiation; Sequence=BAD92537.1; Type=Frameshift; Positions=769; Sequence=BAD92537.1; Type=Miscellaneous discrepancy; Note=Erroneous prediction of the initiator methionine;
The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.
ModBase Predicted Comparative 3D Structure on Q9NX02
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Orthologous Genes in Other Species
Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.