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General description of the gene and the encoded protein(s) using information from HGNC and Ensembl, as well as predictions made by the Human Protein Atlas project.
Gene namei
Official gene symbol, which is typically a short form of the gene name, according to HGNC.
All transcripts of all genes have been analyzed regarding the location(s) of corresponding protein based on prediction methods for signal peptides and transmembrane regions.
Genes with at least one transcript predicted to encode a secreted protein, according to prediction methods or to UniProt location data, have been further annotated and classified with the aim to determine if the corresponding protein(s) are secreted or actually retained in intracellular locations or membrane-attached.
Remaining genes, with no transcript predicted to encode a secreted protein, will be assigned the prediction-based location(s).
The annotated location overrules the predicted location, so that a gene encoding a predicted secreted protein that has been annotated as intracellular will have intracellular as the final location.
Gene information from Ensembl and Entrez, as well as links to available gene identifiers are displayed here. Information was retrieved from Ensembl if not indicated otherwise.
Chromosome
19
Cytoband
q13.42
Chromosome location (bp)
54953130 - 55001142
Number of transcriptsi
Number of protein-coding transcripts from the gene as defined by Ensembl.
Useful information about the protein provided by UniProt.
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 pro-inflammatory 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 pro-inflammatory caspases....show less
Biological process (UniProt)i
Keywords assigned by UniProt to proteins because they are involved in a particular biological process.
Keywords assigned by UniProt to proteins because they bind, are associated with, or whose activity is dependent of some molecule.
ATP-binding, Nucleotide-binding
Gene summary (Entrez)i
Useful information about the gene from Entrez
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]...show less
PROTEIN INFORMATIONi
The protein information section displays alternative protein-coding transcripts (splice variants) encoded by this gene according to the Ensembl database.
The ENSP identifier links to the Ensembl website protein summary, while the ENST identifier links to the Ensembl website transcript summary for the selected splice variant. The data in the UniProt column can be expanded to show links to all matching UniProt identifiers for this protein.
The protein classes assigned to this protein are shown if expanding the data in the protein class column. Parent protein classes are in bold font and subclasses are listed under the parent class.
The Gene Ontology terms assigned to this protein are listed if expanding the Gene ontology column. The length of the protein (amino acid residues according to Ensembl), molecular mass (kDalton), predicted signal peptide (according to a majority of the signal peptide predictors SPOCTOPUS, SignalP 4.0, and Phobius) and the number of predicted transmembrane region(s) (according to MDM) are also reported.
J3KN39 [Direct mapping] NACHT, LRR and PYD domains-containing protein 2
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SPOCTOPUS predicted membrane proteins Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Protein evidence (Ezkurdia et al 2014)
Q9NX02 [Direct mapping] NACHT, LRR and PYD domains-containing protein 2
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SPOCTOPUS predicted membrane proteins Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Mapped to neXtProt neXtProt - Evidence at protein level Protein evidence (Ezkurdia et al 2014)
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GO:0000166[nucleotide binding] GO:0000781[chromosome, telomeric region] GO:0002376[immune system process] GO:0005515[protein binding] GO:0005524[ATP binding] GO:0005737[cytoplasm] GO:0005794[Golgi apparatus] GO:0005829[cytosol] GO:0006915[apoptotic process] GO:0006954[inflammatory response] GO:0010804[negative regulation of tumor necrosis factor-mediated signaling pathway] GO:0032088[negative regulation of NF-kappaB transcription factor activity] GO:0032090[Pyrin domain binding] GO:0032731[positive regulation of interleukin-1 beta production] GO:0043231[intracellular membrane-bounded organelle] GO:0043280[positive regulation of cysteine-type endopeptidase activity involved in apoptotic process] GO:0045087[innate immune response] GO:0050727[regulation of inflammatory response]
Q9NX02 [Direct mapping] NACHT, LRR and PYD domains-containing protein 2
Show all
SPOCTOPUS predicted membrane proteins Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Mapped to neXtProt neXtProt - Evidence at protein level Protein evidence (Ezkurdia et al 2014)
Show all
GO:0000166[nucleotide binding] GO:0000781[chromosome, telomeric region] GO:0002376[immune system process] GO:0005515[protein binding] GO:0005524[ATP binding] GO:0005737[cytoplasm] GO:0005794[Golgi apparatus] GO:0005829[cytosol] GO:0006915[apoptotic process] GO:0006954[inflammatory response] GO:0010804[negative regulation of tumor necrosis factor-mediated signaling pathway] GO:0032088[negative regulation of NF-kappaB transcription factor activity] GO:0032090[Pyrin domain binding] GO:0032731[positive regulation of interleukin-1 beta production] GO:0043231[intracellular membrane-bounded organelle] GO:0043280[positive regulation of cysteine-type endopeptidase activity involved in apoptotic process] GO:0045087[innate immune response] GO:0050727[regulation of inflammatory response]
Q9NX02 [Direct mapping] NACHT, LRR and PYD domains-containing protein 2
Show all
SPOCTOPUS predicted membrane proteins Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Mapped to neXtProt neXtProt - Evidence at protein level Protein evidence (Kim et al 2014) Protein evidence (Ezkurdia et al 2014)
Show all
GO:0000166[nucleotide binding] GO:0000781[chromosome, telomeric region] GO:0002376[immune system process] GO:0005515[protein binding] GO:0005524[ATP binding] GO:0005737[cytoplasm] GO:0005794[Golgi apparatus] GO:0005829[cytosol] GO:0006915[apoptotic process] GO:0006954[inflammatory response] GO:0010804[negative regulation of tumor necrosis factor-mediated signaling pathway] GO:0032088[negative regulation of NF-kappaB transcription factor activity] GO:0032090[Pyrin domain binding] GO:0032731[positive regulation of interleukin-1 beta production] GO:0043231[intracellular membrane-bounded organelle] GO:0043280[positive regulation of cysteine-type endopeptidase activity involved in apoptotic process] GO:0045087[innate immune response] GO:0050727[regulation of inflammatory response]
Q9NX02 [Direct mapping] NACHT, LRR and PYD domains-containing protein 2
Show all
SPOCTOPUS predicted membrane proteins Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Mapped to neXtProt neXtProt - Evidence at protein level Protein evidence (Kim et al 2014) Protein evidence (Ezkurdia et al 2014)
Show all
GO:0000166[nucleotide binding] GO:0000781[chromosome, telomeric region] GO:0002376[immune system process] GO:0005515[protein binding] GO:0005524[ATP binding] GO:0005737[cytoplasm] GO:0005794[Golgi apparatus] GO:0005829[cytosol] GO:0006915[apoptotic process] GO:0006954[inflammatory response] GO:0010804[negative regulation of tumor necrosis factor-mediated signaling pathway] GO:0032088[negative regulation of NF-kappaB transcription factor activity] GO:0032090[Pyrin domain binding] GO:0032731[positive regulation of interleukin-1 beta production] GO:0043231[intracellular membrane-bounded organelle] GO:0043280[positive regulation of cysteine-type endopeptidase activity involved in apoptotic process] GO:0045087[innate immune response] GO:0050727[regulation of inflammatory response]
Q9NX02 [Direct mapping] NACHT, LRR and PYD domains-containing protein 2
Show all
SPOCTOPUS predicted membrane proteins Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Mapped to neXtProt neXtProt - Evidence at protein level Protein evidence (Kim et al 2014) Protein evidence (Ezkurdia et al 2014)
Show all
GO:0000166[nucleotide binding] GO:0000781[chromosome, telomeric region] GO:0002376[immune system process] GO:0005515[protein binding] GO:0005524[ATP binding] GO:0005737[cytoplasm] GO:0005794[Golgi apparatus] GO:0005829[cytosol] GO:0006915[apoptotic process] GO:0006954[inflammatory response] GO:0010804[negative regulation of tumor necrosis factor-mediated signaling pathway] GO:0032088[negative regulation of NF-kappaB transcription factor activity] GO:0032090[Pyrin domain binding] GO:0032731[positive regulation of interleukin-1 beta production] GO:0043231[intracellular membrane-bounded organelle] GO:0043280[positive regulation of cysteine-type endopeptidase activity involved in apoptotic process] GO:0045087[innate immune response] GO:0050727[regulation of inflammatory response]
Q9NX02 [Direct mapping] NACHT, LRR and PYD domains-containing protein 2
Show all
SPOCTOPUS predicted membrane proteins Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Mapped to neXtProt neXtProt - Evidence at protein level Protein evidence (Kim et al 2014) Protein evidence (Ezkurdia et al 2014)
Show all
GO:0000166[nucleotide binding] GO:0000781[chromosome, telomeric region] GO:0002376[immune system process] GO:0005515[protein binding] GO:0005524[ATP binding] GO:0005737[cytoplasm] GO:0005794[Golgi apparatus] GO:0005829[cytosol] GO:0006915[apoptotic process] GO:0006954[inflammatory response] GO:0010804[negative regulation of tumor necrosis factor-mediated signaling pathway] GO:0032088[negative regulation of NF-kappaB transcription factor activity] GO:0032090[Pyrin domain binding] GO:0032731[positive regulation of interleukin-1 beta production] GO:0043231[intracellular membrane-bounded organelle] GO:0043280[positive regulation of cysteine-type endopeptidase activity involved in apoptotic process] GO:0045087[innate immune response] GO:0050727[regulation of inflammatory response]
The Human Protein Atlas project is funded
