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... See more...

Aliases for NLRP2 Gene

Aliases for NLRP2 Gene

  • NLR Family Pyrin Domain Containing 2 2 3 5
  • PYPAF2 2 3 4
  • NBS1 2 3 4
  • PAN1 2 3 4
  • Nucleotide-Binding Oligomerization Domain, Leucine Rich Repeat And Pyrin Domain Containing 2 2 3
  • PYRIN Domain And NACHT Domain-Containing Protein 1 3 4
  • NACHT, Leucine Rich Repeat And PYD Containing 2 2 3
  • NACHT, LRR And PYD Domains-Containing Protein 2 3 4
  • PYRIN-Containing APAF1-Like Protein 2 3 4
  • Nucleotide-Binding Site Protein 1 3 4
  • CLR19.9 2 3
  • NALP2 3 4
  • FLJ20510 2
  • NLRP2 5

External Ids for NLRP2 Gene

Previous HGNC Symbols for NLRP2 Gene

  • NALP2

Previous GeneCards Identifiers for NLRP2 Gene

  • GC19P060170
  • GC19P055476
  • GC19P051800

Summaries for NLRP2 Gene

Entrez Gene Summary for NLRP2 Gene

  • 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]

GeneCards Summary for NLRP2 Gene

NLRP2 (NLR Family Pyrin Domain Containing 2) is a Protein Coding gene. Diseases associated with NLRP2 include Beckwith-Wiedemann Syndrome and Gestational Trophoblastic Neoplasm. Among its related pathways are Nucleotide-binding Oligomerization Domain (NOD) pathway. Gene Ontology (GO) annotations related to this gene include Pyrin domain binding. An important paralog of this gene is NLRP7.

UniProtKB/Swiss-Prot Summary for NLRP2 Gene

  • 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.

Gene Wiki entry for NLRP2 Gene

No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for NLRP2 Gene

Genomics for NLRP2 Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for NLRP2 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH19J054965 Promoter 1.1 EPDnew Ensembl 255.7 +13.1 13071 3.2 ELF1 SUPT5H EP400 ZEB2 ZBTB33 POLR2A ARNT ZBTB40 PHF20 GABPB1 NLRP7 NLRP2 HSALNG0127584 KIR3DL2
GH19J054949 Enhancer 1 FANTOM5 Ensembl ENCODE 263.8 -1.2 -1219 3.9 NCOR1 TAL1 HDAC2 ZEB2 TCF12 NR2F6 RFX1 DPF2 ARID1B NR2C1 NLRP2 lnc-NLRP2-1 piR-52261-139 piR-56133-115 EPS8L1 NLRP7 NCR1
GH19J054967 Promoter 0.3 EPDnew 250.4 +14.8 14751 0.1 HSALNG0127584 NLRP7 NLRP2 RPL36AP50 GP6
GH19J055005 Promoter/Enhancer 1.3 Ensembl ENCODE 20.7 +55.7 55686 6.8 NCOR1 IKZF1 ATF2 POLR2A SMAD5 ETS1 MBD2 TBP ZEB1 MNT piR-30956-009 piR-37567-081 RDH13 ENSG00000267265 NLRP2 GP6 PRPF31 ENSG00000243494 NLRP7 EPS8L1
GH19J055027 Enhancer 1.4 FANTOM5 Ensembl ENCODE dbSUPER 11.6 +75.2 75171 3.4 IKZF1 ZNF592 CEBPA MBD2 ELF1 FOXA2 NBN TARDBP NKRF TRIM25 RDH13 ENSG00000267265 PRPF31 U2AF2 EPS8L1 ENSG00000243494 NLRP7 NLRP2 CNOT3 KMT5C
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around NLRP2 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for NLRP2

Top Transcription factor binding sites by QIAGEN in the NLRP2 gene promoter:
  • AP-1
  • ATF-2
  • c-Jun
  • HSF1 (long)
  • HSF1short
  • Max1
  • STAT1beta
  • STAT3
  • USF-1
  • USF1

Genomic Locations for NLRP2 Gene

Latest Assembly
chr19:54,953,130-55,001,142
(GRCh38/hg38)
Size:
48,013 bases
Orientation:
Plus strand

Previous Assembly
chr19:55,476,652-55,512,506
(GRCh37/hg19 by Entrez Gene)
Size:
35,855 bases
Orientation:
Plus strand

chr19:55,464,498-55,512,510
(GRCh37/hg19 by Ensembl)
Size:
48,013 bases
Orientation:
Plus strand

Alternative Locations (GRCh38/hg38)

  • chr19(ALT_REF_LOCI_1):868,682-904,536 (+)
  • chr19(ALT_REF_LOCI_2):610,486-646,340 (+)
  • chr19(ALT_REF_LOCI_3):945,270-981,124 (+)
  • chr19(ALT_REF_LOCI_4):972,807-1,008,661 (+)
  • chr19(ALT_REF_LOCI_5):947,356-983,210 (+)
  • chr19(ALT_REF_LOCI_6):883,649-919,503 (+)
  • chr19(ALT_REF_LOCI_7):869,116-903,920 (+)
  • chr19(ALT_REF_LOCI_8):677,445-713,299 (+)
  • chr19(ALT_REF_LOCI_9):947,766-983,620 (+)

Genomic View for NLRP2 Gene

Genes around NLRP2 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
NLRP2 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for NLRP2 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for NLRP2 Gene

Proteins for NLRP2 Gene

  • Protein details for NLRP2 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9NX02-NALP2_HUMAN
    Recommended name:
    NACHT, LRR and PYD domains-containing protein 2
    Protein Accession:
    Q9NX02
    Secondary Accessions:
    • B4DZL7
    • I3L0G4
    • Q53FL5
    • Q59G09
    • Q8IXT0
    • Q9BVN5
    • Q9H6G6
    • Q9HAV9
    • Q9NWK3

    Protein attributes for NLRP2 Gene

    Size:
    1062 amino acids
    Molecular mass:
    120515 Da
    Quaternary structure:
    • Interacts with CHUK (PubMed:15456791). Interacts with IKBKB (PubMed:15456791). Interacts with IKBKG (PubMed:15456791). Interacts with MEFV (PubMed:17431422). Interacts with PYCARD (PubMed:15030775, PubMed:15456791). Interacts (via pyrin domain) with PYDC2 (PubMed:17178784). Interacts with CARD8 (PubMed:15030775).
    SequenceCaution:
    • Sequence=AAG15253.1; Type=Erroneous initiation; Evidence={ECO:0000305}; Sequence=BAA91377.1; Type=Erroneous initiation; Evidence={ECO:0000305}; Sequence=BAD92537.1; Type=Frameshift; Evidence={ECO:0000305}; Sequence=BAD92537.1; Type=Miscellaneous discrepancy; Note=Erroneous prediction of the initiator methionine.; Evidence={ECO:0000305};
    Miscellaneous:
    • [Isoform 3]: May be produced at very low levels due to a premature stop codon in the mRNA, leading to nonsense-mediated mRNA decay.

    Alternative splice isoforms for NLRP2 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for NLRP2 Gene

Post-translational modifications for NLRP2 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

No data available for DME Specific Peptides for NLRP2 Gene

Domains & Families for NLRP2 Gene

Gene Families for NLRP2 Gene

Protein Domains for NLRP2 Gene

InterPro:
Blocks:
  • Leucine-rich repeat signature
  • Pyrin domain
  • Disease resistance protein signature

Suggested Antigen Peptide Sequences for NLRP2 Gene

GenScript: Design optimal peptide antigens:
  • NACHT, leucine rich repeat and PYD containing 2 (B0V3L9_HUMAN)
  • NACHT, leucine rich repeat and PYD containing 2 (B0V3M0_HUMAN)
  • NACHT, leucine rich repeat and PYD containing 2 (B0V3M1_HUMAN)
  • PYRIN-containing APAF1-like protein 2 (NALP2_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q9NX02

UniProtKB/Swiss-Prot:

NALP2_HUMAN :
  • 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.
  • Belongs to the NLRP family.
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.
  • The pyrin 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.
Family:
  • Belongs to the NLRP family.
genes like me logo Genes that share domains with NLRP2: view

Function for NLRP2 Gene

Molecular function for NLRP2 Gene

UniProtKB/Swiss-Prot 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.
UniProtKB/Swiss-Prot Induction:
By interferons and bacterial lipopolysaccharides (LPS).

Phenotypes From GWAS Catalog for NLRP2 Gene

Gene Ontology (GO) - Molecular Function for NLRP2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000166 nucleotide binding IEA --
GO:0005515 protein binding IPI 15030775
GO:0005524 ATP binding IEA --
GO:0032090 Pyrin domain binding IPI 15030775
genes like me logo Genes that share ontologies with NLRP2: view
genes like me logo Genes that share phenotypes with NLRP2: view

Animal Models for NLRP2 Gene

MGI Knock Outs for NLRP2:
  • Nlrp2 Nlrp2<tm1a(KOMP)Wtsi>
  • Nlrp2 Nlrp2<tm1b(KOMP)Wtsi>

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for NLRP2

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for NLRP2 Gene

Localization for NLRP2 Gene

Subcellular locations from UniProtKB/Swiss-Prot for NLRP2 Gene

Cytoplasm.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for NLRP2 gene
Compartment Confidence
cytosol 5
golgi apparatus 4
nucleus 3
plasma membrane 2
extracellular 2
cytoskeleton 2
mitochondrion 1
peroxisome 1
endoplasmic reticulum 1
endosome 1
lysosome 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Cytosol (3)
  • Golgi apparatus (2)
  • Vesicles (2)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for NLRP2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000781 colocalizes_with chromosome, telomeric region IDA 24270157
GO:0005737 cytoplasm IDA 15030775
GO:0005794 Golgi apparatus IDA --
GO:0005829 cytosol IDA --
GO:0043231 intracellular membrane-bounded organelle IDA --
genes like me logo Genes that share ontologies with NLRP2: view

Pathways & Interactions for NLRP2 Gene

genes like me logo Genes that share pathways with NLRP2: view

Pathways by source for NLRP2 Gene

1 BioSystems pathway for NLRP2 Gene
1 GeneTex pathway for NLRP2 Gene

Gene Ontology (GO) - Biological Process for NLRP2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0002376 immune system process IEA --
GO:0006915 apoptotic process IEA --
GO:0006954 inflammatory response IEA --
GO:0032088 negative regulation of NF-kappaB transcription factor activity IGI 15817483
GO:0032731 positive regulation of interleukin-1 beta production IDA 15030775
genes like me logo Genes that share ontologies with NLRP2: view

No data available for SIGNOR curated interactions for NLRP2 Gene

Drugs & Compounds for NLRP2 Gene

No Compound Related Data Available

Transcripts for NLRP2 Gene

mRNA/cDNA for NLRP2 Gene

5 REFSEQ mRNAs :
19 NCBI additional mRNA sequence :
19 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for NLRP2

Alternative Splicing Database (ASD) splice patterns (SP) for NLRP2 Gene

ExUns: 1 ^ 2 ^ 3a · 3b · 3c · 3d ^ 4 ^ 5 ^ 6 ^ 7 ^ 8 ^ 9a · 9b · 9c ^ 10a · 10b · 10c ^ 11 ^ 12 ^ 13a · 13b ^ 14 ^ 15a · 15b ^ 16 ^ 17
SP1: - - -
SP2: - - - -
SP3: - - - - -
SP4: - - - - - - -
SP5: - - - - - - -
SP6: -
SP7: - - - - - -
SP8: - - -
SP9:
SP10:

Relevant External Links for NLRP2 Gene

GeneLoc Exon Structure for
NLRP2

Expression for NLRP2 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for NLRP2 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for NLRP2 Gene

This gene is overexpressed in Testis (x5.9) and Esophagus - Mucosa (x4.5).

Protein differential expression in normal tissues from HIPED for NLRP2 Gene

This gene is overexpressed in Cervix (56.6) and Placenta (6.5).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for NLRP2 Gene



Protein tissue co-expression partners for NLRP2 Gene

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for NLRP2

SOURCE GeneReport for Unigene cluster for NLRP2 Gene:

Hs.369279

mRNA Expression by UniProt/SwissProt for NLRP2 Gene:

Q9NX02-NALP2_HUMAN
Tissue specificity: Expressed at high levels in lung, placenta and thymus and at lower levels in ovary, intestine and brain.

Evidence on tissue expression from TISSUES for NLRP2 Gene

  • Nervous system(4.6)
  • Kidney(4.3)
  • Intestine(4.3)
  • Lung(4.2)
  • Stomach(4.2)
genes like me logo Genes that share expression patterns with NLRP2: view

Primer products for research

No data available for Phenotype-based relationships between genes and organs from Gene ORGANizer for NLRP2 Gene

Orthologs for NLRP2 Gene

This gene was present in the common ancestor of chordates.

Orthologs for NLRP2 Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
Mammalia NLRP2 29 30
  • 98.84 (n)
OneToOne
Cow
(Bos Taurus)
Mammalia NLRP2 29
  • 73.83 (n)
-- 30
  • 62 (a)
ManyToMany
-- 30
  • 57 (a)
ManyToMany
Dog
(Canis familiaris)
Mammalia NLRP2 29
  • 72.33 (n)
-- 30
  • 56 (a)
OneToMany
Rat
(Rattus norvegicus)
Mammalia LOC684545 29
  • 60.89 (n)
Mouse
(Mus musculus)
Mammalia Nlrp2 29 16 30
  • 60.38 (n)
OneToMany
Oppossum
(Monodelphis domestica)
Mammalia -- 30
  • 29 (a)
OneToMany
Lizard
(Anolis carolinensis)
Reptilia -- 30
  • 30 (a)
OneToMany
Species where no ortholog for NLRP2 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • Alpha proteobacteria (Wolbachia pipientis)
  • Amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • Baker's yeast (Saccharomyces cerevisiae)
  • Barley (Hordeum vulgare)
  • Beta proteobacteria (Neisseria meningitidis)
  • Bread mold (Neurospora crassa)
  • Chicken (Gallus gallus)
  • Chromalveolata (Phytophthora infestans)
  • Common water flea (Daphnia pulex)
  • Corn (Zea mays)
  • E. coli (Escherichia coli)
  • Filamentous fungi (Aspergillus nidulans)
  • Firmicute Bacteria (Streptococcus pneumoniae)
  • Fission Yeast (Schizosaccharomyces pombe)
  • Fruit Fly (Drosophila melanogaster)
  • Green Algae (Chlamydomonas reinhardtii)
  • Honey Bee (Apis mellifera)
  • K. Lactis Yeast (Kluyveromyces lactis)
  • Loblloly Pine (Pinus taeda)
  • Malaria Parasite (Plasmodium falciparum)
  • Medicago Trunc (Medicago Truncatula)
  • Moss (Physcomitrella patens)
  • Orangutan (Pongo pygmaeus)
  • Pig (Sus scrofa)
  • Platypus (Ornithorhynchus anatinus)
  • Rainbow Trout (Oncorhynchus mykiss)
  • Rice (Oryza sativa)
  • Rice Blast Fungus (Magnaporthe grisea)
  • Schistosome Parasite (Schistosoma mansoni)
  • Sea Anemone (Nematostella vectensis)
  • Sea Vase (Ciona intestinalis)
  • Sea Squirt (Ciona savignyi)
  • Sea Urchin (Strongylocentrotus purpuratus)
  • Sorghum (Sorghum bicolor)
  • Soybean (Glycine max)
  • Stem Rust Fungus (Puccinia graminis)
  • Sugarcane (Saccharum officinarum)
  • Thale Cress (Arabidopsis thaliana)
  • Tomato (Lycopersicon esculentum)
  • Toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • Tropical Clawed Frog (Silurana tropicalis)
  • Wheat (Triticum aestivum)
  • Worm (Caenorhabditis elegans)
  • Zebrafish (Danio rerio)

Evolution for NLRP2 Gene

ENSEMBL:
Gene Tree for NLRP2 (if available)
TreeFam:
Gene Tree for NLRP2 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for NLRP2: view image
Alliance of Genome Resources:
Additional Orthologs for NLRP2

Paralogs for NLRP2 Gene

(14) SIMAP similar genes for NLRP2 Gene using alignment to 10 proteins:

  • NALP2_HUMAN
  • F5GYZ4_HUMAN
  • F5H5B1_HUMAN
  • F5H7Q5_HUMAN
  • H0YH35_HUMAN
  • J3KN39_HUMAN
  • K7EJ90_HUMAN
  • K7ELX1_HUMAN
  • K7EMK2_HUMAN
  • K7EPE6_HUMAN
genes like me logo Genes that share paralogs with NLRP2: view

Variants for NLRP2 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for NLRP2 Gene

SNP ID Clinical significance and condition Chr 19 pos Variation AA Info Type
1013402 Uncertain Significance: not provided 54,983,172(+) G/A
NM_017852.5(NLRP2):c.1474G>A (p.Asp492Asn)
MISSENSE_VARIANT,NON_CODING_TRANSCRIPT
932560 Likely Benign: not provided 54,982,916(+) G/A
NM_017852.5(NLRP2):c.1218G>A (p.Thr406=)
NON_CODING_TRANSCRIPT_VARIANT,SYNONYMOUS
rs10401517 Benign: not provided 54,994,362(+) G/A
NM_017852.5(NLRP2):c.2802G>A (p.Leu934=)
NON_CODING_TRANSCRIPT_VARIANT,SYNONYMOUS
rs117066658 Benign: not provided 54,990,056(+) G/A
NM_017852.5(NLRP2):c.2401G>A (p.Ala801Thr)
MISSENSE_VARIANT,NON_CODING_TRANSCRIPT
rs139903547 Benign: not provided 54,982,915(+) C/G
NM_017852.5(NLRP2):c.1217C>G (p.Thr406Arg)
MISSENSE_VARIANT,NON_CODING_TRANSCRIPT

dbSNP identifiers (rs#s) for variants without ClinVar clinical significance for NLRP2 Gene

All consequence types are included: molecular consequences (e.g. missense, synonymous), and location-based (e.g. intron, upstream).

Structural Variations from Database of Genomic Variants (DGV) for NLRP2 Gene

Variant ID Type Subtype PubMed ID
dgv1819n106 OTHER inversion 24896259
dgv3679n100 CNV loss 25217958
esv25586 CNV gain 19812545
esv2656929 CNV deletion 23128226
esv2659880 CNV deletion 23128226
esv2667609 CNV deletion 23128226
esv2674256 CNV deletion 23128226
esv2718872 CNV deletion 23290073
esv2718934 CNV deletion 23290073
esv2718935 CNV deletion 23290073
esv3583572 CNV loss 25503493
esv3583573 CNV loss 25503493
esv3644827 CNV loss 21293372
esv3893250 CNV loss 25118596
nsv1056824 CNV gain 25217958
nsv1062047 CNV gain 25217958
nsv1079034 OTHER inversion 25765185
nsv1134811 CNV deletion 24896259
nsv1150276 OTHER inversion 26484159
nsv512596 CNV loss 21212237
nsv580340 CNV loss 21841781
nsv580341 CNV loss 21841781
nsv821136 CNV deletion 20802225
nsv833880 CNV loss 17160897
nsv953623 CNV deletion 24416366
nsv963082 CNV duplication 23825009
nsv9767 CNV gain 18304495

Variation tolerance for NLRP2 Gene

Residual Variation Intolerance Score: 98.1% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 7.58; 82.54% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for NLRP2 Gene

Human Gene Mutation Database (HGMD)
NLRP2
SNPedia medical, phenotypic, and genealogical associations of SNPs for
NLRP2
Leiden Open Variation Database (LOVD)
NLRP2

SNP Genotyping and Copy Number Assays for research

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for NLRP2 Gene

Disorders for NLRP2 Gene

MalaCards: The human disease database

(7) MalaCards diseases for NLRP2 Gene - From: COP and GCD

Disorder Aliases PubMed IDs
beckwith-wiedemann syndrome
  • bws
gestational trophoblastic neoplasm
  • gestational trophoblastic neoplasia
spondyloarthropathy
  • spondarthropathy
trophoblastic neoplasm
  • trophoblastic tumor
pseudohypoparathyroidism, type ib
  • php1b
- elite association - COSMIC cancer census association via MalaCards
Search NLRP2 in MalaCards View complete list of genes associated with diseases

Additional Disease Information for NLRP2

Human Genome Epidemiology Navigator
(HuGE)
Atlas
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
Open Targets Platform
Open Targets Platform
genes like me logo Genes that share disorders with NLRP2: view

No data available for UniProtKB/Swiss-Prot and Genatlas for NLRP2 Gene

Publications for NLRP2 Gene

  1. PAN1/NALP2/PYPAF2, an inducible inflammatory mediator that regulates NF-kappaB and caspase-1 activation in macrophages. (PMID: 15456791) Bruey JM … Reed JC (The Journal of biological chemistry 2004) 3 4 22
  2. The PYRIN domain: a novel motif found in apoptosis and inflammation proteins. (PMID: 11270363) Bertin J … DiStefano PS (Cell death and differentiation 2000) 2 3 4
  3. Investigation of genetic susceptibility factors for human longevity - a targeted nonsynonymous SNP study. (PMID: 20800603) Flachsbart F … Nebel A (Mutation research 2010) 3 40
  4. The genetics of NOD-like receptors in Crohn's disease. (PMID: 20403135) Cummings JR … Jewell DP (Tissue antigens 2010) 3 40
  5. Toll-like receptor 2 and NALP2 mediate induction of human beta-defensins by fusobacterium nucleatum in gingival epithelial cells. (PMID: 19103770) Ji S … Choi Y (Infection and immunity 2009) 3 22

Products for NLRP2 Gene

Sources for NLRP2 Gene