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 

Page IndexSequence and LinksUniProtKB CommentsMalaCardsCTDRNA-Seq Expression
Microarray ExpressionRNA StructureProtein StructureOther SpeciesGO AnnotationsmRNA Descriptions
Other NamesMethods
Data last updated at UCSC: 2021-01-14 15:32:12

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr19:54,965,252-55,001,142)mRNA (may differ from genome)Protein (1062 aa)
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UniProtKBWikipedia

-  Comments and Description Text from UniProtKB
  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;

-  MalaCards Disease Associations
  MalaCards Gene Search: NLRP2
Diseases sorted by gene-association score: gestational trophoblastic neoplasm (6), diabetes mellitus, transient neonatal, 1 (5), trophoblastic neoplasm (4), beckwith-wiedemann syndrome (3)

-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene

-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 9.96 RPKM in Testis
Total median expression: 44.55 RPKM



View in GTEx track of Genome Browser    View at GTEx portal     View GTEx Body Map

+  Microarray Expression Data
  Press "+" in the title bar above to open this section.

-  mRNA Secondary Structure of 3' and 5' UTRs
 
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -56.10143-0.392 Picture PostScript Text
3' UTR -50.80244-0.208 Picture PostScript Text

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.

-  Protein Domain and Structure Information
  InterPro Domains: Graphical view of domain structure
IPR004020 - DAPIN
IPR011029 - DEATH-like
IPR007111 - NACHT_NTPase

Pfam Domains:
PF02758 - PAAD/DAPIN/Pyrin domain

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.
MouseRatZebrafishD. melanogasterC. elegansS. cerevisiae
Genome BrowserGenome BrowserNo orthologNo orthologNo orthologNo ortholog
Gene Details     
Gene Sorter     
MGIRGD    
Protein SequenceProtein Sequence    
AlignmentAlignment    

-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0000166 nucleotide binding
GO:0005515 protein binding
GO:0005524 ATP binding
GO:0032090 Pyrin domain binding

Biological Process:
GO:0002376 immune system process
GO:0006915 apoptotic process
GO:0006954 inflammatory response
GO:0032088 negative regulation of NF-kappaB transcription factor activity
GO:0043280 positive regulation of cysteine-type endopeptidase activity involved in apoptotic process
GO:0045087 innate immune response
GO:0050718 positive regulation of interleukin-1 beta secretion

Cellular Component:
GO:0005737 cytoplasm
GO:0005794 Golgi apparatus
GO:0005829 cytosol
GO:0043231 intracellular membrane-bounded organelle
GO:0000784 nuclear chromosome, telomeric region


-  Descriptions from all associated GenBank mRNAs
  JD412295 - Sequence 393319 from Patent EP1572962.
AK302989 - Homo sapiens cDNA FLJ53440 complete cds, highly similar to NACHT, LRR and PYD-containing protein 2.
BC039269 - Homo sapiens NLR family, pyrin domain containing 2, mRNA (cDNA clone MGC:33950 IMAGE:5298283), complete cds.
AF310106 - Homo sapiens NALP2 mRNA, complete cds.
AK000517 - Homo sapiens cDNA FLJ20510 fis, clone KAT09662.
AK292681 - Homo sapiens cDNA FLJ75133 complete cds, highly similar to Homo sapiens NACHT, leucine rich repeat and PYD containing 2, mRNA.
AB209300 - Homo sapiens mRNA for NACHT, leucine rich repeat and PYD containing 2 variant protein.
BC003592 - Homo sapiens NLR family, pyrin domain containing 2, mRNA (cDNA clone MGC:4340 IMAGE:2821428), complete cds.
AF298547 - Homo sapiens nucleotide-binding site protein 1 mRNA, complete cds.
AK223253 - Homo sapiens mRNA for NACHT, leucine rich repeat and PYD containing 2 variant, clone: STM05112.
AK223269 - Homo sapiens mRNA for NACHT, leucine rich repeat and PYD containing 2 variant, clone: STM07028.
AK025952 - Homo sapiens cDNA: FLJ22299 fis, clone HRC04653.
AF464764 - Homo sapiens PYRIN-containing Apaf1-like protein 2 mRNA, complete cds.
BC001039 - Homo sapiens NLR family, pyrin domain containing 2, mRNA (cDNA clone MGC:1031 IMAGE:3504594), complete cds.
AB590356 - Synthetic construct DNA, clone: pFN21AE1453, Homo sapiens NLRP2 gene for NLR family, pyrin domain containing 2, without stop codon, in Flexi system.
DQ895069 - Synthetic construct Homo sapiens clone IMAGE:100009529; FLH180911.01L; RZPDo839H05133D NACHT, leucine rich repeat and PYD containing 2 (NALP2) gene, encodes complete protein.
EU176313 - Synthetic construct Homo sapiens clone IMAGE:100006413; FLH180918.01X; RZPDo839D05251D NLR family, pyrin domain containing 2 (NLRP2) gene, encodes complete protein.
AK298630 - Homo sapiens cDNA FLJ51274 complete cds, highly similar to NACHT, LRR and PYD-containing protein 7.
AK000784 - Homo sapiens cDNA FLJ20777 fis, clone COL05728.
AF269288 - Homo sapiens PP1579 mRNA, complete cds.
JD079269 - Sequence 60293 from Patent EP1572962.
JD334998 - Sequence 316022 from Patent EP1572962.
JD386454 - Sequence 367478 from Patent EP1572962.
JD134584 - Sequence 115608 from Patent EP1572962.
JD409122 - Sequence 390146 from Patent EP1572962.
JD266247 - Sequence 247271 from Patent EP1572962.

-  Other Names for This Gene
  Alternate Gene Symbols: ENST00000543010.1, ENST00000543010.2, ENST00000543010.3, ENST00000543010.4, NALP2, NALP2_HUMAN, NBS1, NM_001174081, PAN1, PYPAF2, Q53FL5, Q59G09, Q8IXT0, Q9BVN5, Q9H6G6, Q9HAV9, Q9NWK3, Q9NX02, uc021vbq.1, uc021vbq.2
UCSC ID: ENST00000543010.5
RefSeq Accession: NM_001174081
Protein: Q9NX02 (aka NALP2_HUMAN or NAL2_HUMAN)
CCDS: CCDS12913.1, CCDS54318.1, CCDS54319.1

-  Methods, Credits, and Use Restrictions
  Click here for details on how this gene model was made and data restrictions if any.