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NLRP2 Gene

protein-coding   GIFtS: 59
GCID: GC19P055476

NLR Family, Pyrin Domain Containing 2

(Previous names: NACHT, leucine rich repeat and PYD containing 2)
(Previous symbol: NALP2)
  See related diseases
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
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Aliases
NLR Family, Pyrin Domain Containing 21 2     PYRIN-Containing APAF1-Like Protein 22 3
NALP21 2 3 5     Leucine Rich Repeat And Pyrin Domain Containing 21
PAN12 3 5     Nucleotide-Binding Oligomerization Domain1
PYPAF22 3 5     CLR19.92
NACHT, Leucine Rich Repeat And PYD Containing 21 2     NACHT, LRR And PYD Containing Protein 22
Nucleotide-Binding Site Protein 12 3     NACHT, LRR And PYD Domains-Containing Protein 22
NBS12 3     Nucleotide-Binding Oligomerization Domain, Leucine Rich Repeat And Pyrin
Domain Containing 22
PYRIN Domain And NACHT Domain-Containing Protein 12 3     

External Ids:    HGNC: 229481   Entrez Gene: 556552   Ensembl: ENSG000000225567   OMIM: 6093645   UniProtKB: Q9NX023   

Export aliases for NLRP2 gene to outside databases

Previous GC identifers: GC19P060170 GC19P051800


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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Entrez Gene summary for NLRP2 Gene:
NALP proteins, such as NALP2, are characterized by an N-terminal pyrin (MIM 608107) domain (PYD) and are involved
in the activation of caspase-1 (CASP1; MIM 147678) by Toll-like receptors (see TLR4; MIM 603030). They may also
be involved in protein complexes that activate proinflammatory caspases (Tschopp et al., 2003 (PubMed
12563287)).(supplied by OMIM, Mar 2008)

GeneCards Summary for NLRP2 Gene:
NLRP2 (NLR family, pyrin domain containing 2) is a protein-coding gene. Diseases associated with NLRP2 include gonorrhea, and beckwith-wiedemann syndrome. GO annotations related to this gene include Pyrin domain binding. An important paralog of this gene is NLRP4.

UniProtKB/Swiss-Prot: NALP2_HUMAN, Q9NX02
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

Gene Wiki entry for NLRP2 Gene


(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence:
NC_000019.10  NC_018930.2  NT_011109.17  NT_187693.1  
Regulatory elements:
   Regulatory transcription factor binding sites in the NLRP2 gene promoter:
         Max1   USF1   AP-1   ATF-2   STAT1beta   HSF1 (long)   USF-1   HSF1short   STAT3   c-Jun   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmids (see all 2): NLRP2 promoter sequence
   Search Chromatin IP Primers for NLRP2

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat NLRP2


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 19q13.42   Ensembl cytogenetic band:  19q13.42   HGNC cytogenetic band: 19q13.42

NLRP2 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
NLRP2 gene location

GeneLoc information about chromosome 19         GeneLoc Exon Structure

GeneLoc location for GC19P055476:  view genomic region     (about GC identifiers)

Start:
55,464,498 bp from pter      End:
55,512,510 bp from pter
Size:
48,013 bases      Orientation:
plus strand

Selected alternative locations (see all 8):
Chr19+,NW_003571056 945,269-981,127      Chr19+,NW_003571060 869,085-903,924      Chr19+,NW_003571058 947,355-983,213     
Chr19+,NW_003571061 677,444-713,302      Chr19+,NW_003571054 868,682-904,540      Chr19+,NW_003571059 883,648-919,506     

(According to 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, Cloud-Clone Corp, and/or others.)
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UniProtKB/Swiss-Prot: NALP2_HUMAN, Q9NX02 (See protein sequence)
Recommended Name: NACHT, LRR and PYD domains-containing protein 2  
Size: 1062 amino acids; 120515 Da
Subunit: Interacts with CHUK, IKBKB, IKBKG and MEFV, as well as with full-length PYCARD and with the DAPIN domain
of NAPL1, but not the full-length protein
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;
Secondary accessions: B4DZL7 I3L0G4 Q53FL5 Q59G09 Q8IXT0 Q9BVN5 Q9H6G6 Q9HAV9 Q9NWK3
Alternative splicing: 5 isoforms:  Q9NX02-1   Q9NX02-2   Q9NX02-3   Q9NX02-4   Q9NX02-5   (No experimental confirmation available)

Explore the universe of human proteins at neXtProt for NLRP2: NX_Q9NX02

Explore proteomics data for NLRP2 at MOPED

Post-translational modifications: 

  • Modification sites at neXtProt
  • Modification sites at PhosphoSitePlus

  • See NLRP2 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins (4 alternative transcripts): 
    NP_001167552.1  NP_001167553.1  NP_001167554.1  NP_060322.1  

    ENSEMBL proteins: 
     ENSP00000466260   ENSP00000465069   ENSP00000443519   ENSP00000445135   ENSP00000375601  
     ENSP00000344074   ENSP00000442351   ENSP00000467349   ENSP00000402474   ENSP00000263437  
     ENSP00000441363   ENSP00000466537   ENSP00000445846   ENSP00000469973   ENSP00000409370  
     ENSP00000440601   ENSP00000441133  

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    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    HGNC Gene Families:
    NLR: Nucleotide-binding domain and leucine rich repeat containing

    IUPHAR Guide to PHARMACOLOGY protein family classification: NLRP2
    NOD-like receptor family

    4 InterPro protein domains:
     IPR011029 DEATH-like_dom
     IPR007111 NACHT_NTPase
     IPR027417 P-loop_NTPase
     IPR004020 DAPIN

    Graphical View of Domain Structure for InterPro Entry Q9NX02

    ProtoNet protein and cluster: Q9NX02

    3 Blocks protein domains:
    IPB000767 Disease resistance protein signature
    IPB001611 Leucine-rich repeat signature
    IPB004020 Pyrin domain


    UniProtKB/Swiss-Prot: NALP2_HUMAN, Q9NX02
    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


    NLRP2 for domains           About GeneDecksing


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
    transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Molecular Function:

         UniProtKB/Swiss-Prot Summary: NALP2_HUMAN, Q9NX02
    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
    Induction: By interferons and bacterial lipopolysaccharides (LPS)

         Gene Ontology (GO): 3 molecular function terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005515protein binding IPI15030775
    GO:0005524ATP binding IEA--
    GO:0032090Pyrin domain binding IPI15030775
         
    NLRP2 for ontologies           About GeneDecksing


    Animal Models:
       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for NLRP2
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    miRTarBase miRNAs that target NLRP2:
    hsa-mir-335-5p (MIRT018918)

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    Browse Sino Biological Human cDNA Clones
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    (According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Subcellular locations from UniProtKB/Swiss-Prot
    NALP2_HUMAN, Q9NX02: Cytoplasm
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    cytosol3
    nucleus2
    cytoskeleton1
    plasma membrane1

    Gene Ontology (GO): 1 cellular component term:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005737cytoplasm IDA15030775

    NLRP2 for ontologies           About GeneDecksing


    (SuperPaths according to PathCards, Pathways according to R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to QIAGEN, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene).
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    SuperPaths for NLRP2 About    
    See pathways by source

    SuperPathContained pathways About
    1Nucleotide-binding domain, leucine rich repeat containing receptor (NLR) signaling pathways
    NOD pathway0.33

    Selected Downloadable PowerPoint Slides of GeneGlobe Pathway Central Maps for NLRP2 (see all 7)
        ATM Pathway
    Fanconi's Anaemia Pathway
    BRCA1 Pathway
    DNA Repair Mechanisms
    Molecular Mechanisms of Cancer

    1 BioSystems Pathway for NLRP2
        NOD pathway


        Pathway & Disease-focused RT2 Profiler PCR Array including NLRP2: 
              Apoptosis 384HT in human mouse rat

    Interactions:

        GeneGlobe Interaction Network for NLRP2

    STRING Interaction Network Preview (showing 5 interactants - click image to see 7)

    Selected Interacting proteins for NLRP2 (Q9NX021, 2, 3 ENSP000002634374) via UniProtKB, MINT, STRING, and/or I2D (see all 16)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    H2AFXP161042, 3, ENSP000003643104MINT-56624 MINT-56625 MINT-56627 I2D: score=1 STRING: ENSP00000364310
    PYDC2Q56P421, 3EBI-6374482,EBI-6374418 I2D: score=1 
    WRNQ141912, 3, ENSP000002981394MINT-56617 I2D: score=1 STRING: ENSP00000298139
    CARD8Q9Y2G23, ENSP000003519014I2D: score=1 STRING: ENSP00000351901
    MRE11AP499593, ENSP000003258634I2D: score=1 STRING: ENSP00000325863
    About this table

    Gene Ontology (GO): 2 biological process terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0043280positive regulation of cysteine-type endopeptidase activity involved in apoptotic process IDA15030775
    GO:0050718positive regulation of interleukin-1 beta secretion IDA15030775

    NLRP2 for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
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    Browse Small Molecules at EMD Millipore
       Browse drugs & compounds from Enzo Life Sciences
      Browse compounds at ApexBio 

    Browse Tocris compounds for NLRP2 (NALP2)



    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
    Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, and/or QIAGEN )
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    REFSEQ mRNAs for NLRP2 gene (4 alternative transcripts): 
    NM_001174081.1  NM_001174082.1  NM_001174083.1  NM_017852.3  

    Unigene Cluster for NLRP2:

    NLR family, pyrin domain containing 2
    Hs.369279  [show with all ESTs]
    Unigene Representative Sequence: NM_017852
    Selected Ensembl transcripts including schematic representations, and UCSC links where relevant (see all 20):
    ENST00000588619 ENST00000588107 ENST00000433772 ENST00000543010(uc021vbq.1)
    ENST00000540597 ENST00000391721 ENST00000339757 ENST00000539848 ENST00000585500
    ENST00000427260 ENST00000263437 ENST00000397169 ENST00000540005 ENST00000543277
    ENST00000381637 ENST00000586512 ENST00000542755 ENST00000448584(uc010yfp.2 uc002qij.3 uc010esn.3 uc010eso.3)

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    Additional mRNA sequence: 

    AB209300.1 AF298547.1 AF310106.1 AF464764.1 AK000517.1 AK000784.1 AK025952.1 AK223253.1 
    AK223269.1 AK292681.1 AK302989.1 BC001039.2 BC003592.1 

    10 DOTS entries:

    DT.86847106  DT.100760452  DT.95161138  DT.95144224  DT.97843016  DT.97843017  DT.121427228  DT.40283246 
    DT.92035922  DT.97779718 

    Selected AceView cDNA sequences (see all 136):

    AW243537 AW006249 BM758145 AI968100 BF926652 AW014522 AK000784 AA743510 
    AW236428 AI638191 BE672098 AI655137 AI637620 AA301407 AW236554 AI146844 
    AF464764 BF445417 N41868 AK025952 BP350404 BM984503 BM718854 AI653704 

    GeneLoc Exon Structure

    Selected Alternative Splicing Database (ASD) splice patterns (SP) for NLRP2 (see all 10)    About this scheme

    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:        -     -     -     -     -           -           -                                                                                                   


    ECgene alternative splicing isoforms for NLRP2

    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
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    NLRP2 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: ATTCTGCCTC
    NLRP2 Expression
    About this image


    NLRP2 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 3) fully expand
     
     Inner Cell Mass (Early Embryonic Tissues)    fully expand to see all 7 entries
             Human embryonic stem cells (family)
             ESI-017   
     
     Ovary (Reproductive System)
             Secondary Oocyte Antral Follicle
     
     Gonad
             Secondary Oocyte Antral Follicle
    NLRP2 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    NLRP2 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.369279

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

        Pathway & Disease-focused RT2 Profiler PCR Array including NLRP2: 
              Apoptosis 384HT in human mouse rat

    Primer
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    In Situ
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for NLRP2

    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
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    This gene was present in the common ancestor of chordates.

    Orthologs for NLRP2 gene from Selected species (see all 7)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Nlrp21 , 5 NLR family, pyrin domain containing 21, 5 60.38(n)1
    45.63(a)1
      7 (3.07 cM)5
    2328271  NM_177690.31  NP_808358.21 
     52985545 
    lizard
    (Anolis carolinensis)
    Reptilia --
    Uncharacterized protein
    30(a)
    1 → many
    GL343482.1(99797-117577)


    ENSEMBL Gene Tree for NLRP2 (if available)
    TreeFam Gene Tree for NLRP2 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for NLRP2 gene
    NLRP42  NLRP132  NLRP92  NLRC32  NLRP62  NLRP32  NLRP142  NLRP72  
    NLRP112  NLRP102  NLRP52  NLRP82  NLRP122  
    14 SIMAP similar genes for NLRP2 using alignment to 10 protein entries:     NALP2_HUMAN (see all proteins):
    PP1579    PYDC2    NLRP7    NLRP1    CIAS1    NLRP14
    NLRP4    RNH1    NLRP13    NLRP8    NLRP9    NLRP12
    NLRP3    NLRP5

    NLRP2 for paralogs           About GeneDecksing


    1 Pseudogenes.org Pseudogene for NLRP2
    PGOHUM00000241345


    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
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    Selected SNPs for NLRP2 (see all 1557)    About this table    
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 19 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1384457771,2
    C,Funtested155481625(+) GCACCG/AAATGG 8 /Q /R mis12Minor allele frequency- A:0.00NA EU 5875
    rs1994757091,2
    Cuntested155485848(+) ATTTTC/TCCCCC 4 -- int10--------
    rs1994757141,2
    Cuntested155494119(+) GAGCCA/GATCTA 8 P syn10--------
    rs1994757151,2
    Cuntested155494275(+) TGGATC/TGTGTG 8 I syn10--------
    rs1994757161,2
    Cuntested155494452(+) CAGACA/GTCCGT 8 T syn10--------
    rs1994757181,2
    Cuntested155496335(+) CAGGGG/TTATAT 4 -- int10--------
    rs1994757191,2
    Cuntested155496800(+) CAACAA/CTTCGG 4 -- int10--------
    rs1507172211,2
    C--55474704(+) AGACC-/CTGTCTC 1 -- us2k10--------
    rs1471883191,2
    C--55474734(+) GAAATA/GTAGAT 4 -- us2k10--------
    rs1911754401,2
    --55474744(+) TGTACA/GTATAC 1 -- us2k10--------

    HapMap Linkage Disequilibrium report for NLRP2 (55464498 - 55512510 bp)

    Structural Variations
         Database of Genomic Variants (DGV) Selected variations for NLRP2 (see all 13):    About this table    
    Variant IDTypeSubtypePubMed ID
    esv2718934CNV Deletion23290073
    esv2667609CNV Deletion23128226
    esv2718935CNV Deletion23290073
    esv2718872CNV Deletion23290073
    nsv821136CNV Deletion20802225
    esv2674256CNV Deletion23128226
    esv2656929CNV Deletion23128226
    esv2659880CNV Deletion23128226
    nsv833880CNV Loss17160897
    nsv512596CNV Loss21212237

    Human Gene Mutation Database (HGMD): NLRP2
    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing NLRP2
    DNA2.0 Custom Variant and Variant Library Synthesis for NLRP2

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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    OMIM gene information: 609364    OMIM disorders: --

    11 diseases for NLRP2:    
    About MalaCards
    gonorrhea    beckwith-wiedemann syndrome    familial mediterranean fever    aggressive periodontitis
    spondyloarthropathy    periodontitis    gingivitis    crohn's disease
    chronic lymphocytic leukemia    inflammatory bowel disease    leukemia


    NLRP2 for disorders           About GeneDecksing

    Genetic Association Database (GAD): NLRP2
    Human Genome Epidemiology (HuGE) Navigator: NLRP2 (5 documents)

    Export disorders for NLRP2 gene to outside databases

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
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    PubMed articles for NLRP2 gene, integrated from 10 sources (see all 43):
    (articles sorted by number of sources associating them with NLRP2)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. The PYRIN domain: a novel motif found in apoptosis and inflammation proteins. (PubMed id 11270363)1, 2, 3 Bertin J. and DiStefano P.S. (Cell Death Differ. 2000)
    2. PAN1/NALP2/PYPAF2, an inducible inflammatory mediator that regulates NF-kappaB and caspase-1 activation in macrophages. (PubMed id 15456791)1, 2, 9 Bruey J.-M....Reed J.C. (J. Biol. Chem. 2004)
    3. The genetics of NOD-like receptors in Crohn's disease. (PubMed id 20403135)1, 4 Cummings J.R....Jewell D.P. (Tissue Antigens 2010)
    4. Investigation of genetic susceptibility factors for human longevity - a targeted nonsynonymous SNP study. (PubMed id 20800603)1, 4 Flachsbart F....Nebel A. (Mutat. Res. 2010)
    5. Common variants in NLRP2 and NLRP3 genes are strong prognostic factors for the outcome of HLA-identical sibling allogeneic stem cell transplantation. (PubMed id 18772453)1, 4 Granell M....MonzA^ M. (Blood 2008)
    6. Genetic variants in apoptosis and immunoregulation-related genes are associated with risk of chronic lymphocytic leukemia. (PubMed id 19074885)1, 4 Enjuanes A....Campo E. (Cancer Res. 2008)
    7. NALP3 forms an IL-1beta-processing inflammasome with increased activity in Muckle-Wells autoinflammatory disorder. (PubMed id 15030775)1, 2 Agostini L....Tschopp J. (Immunity 2004)
    8. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (Nat. Genet. 2004)
    9. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)1, 2 Gerhard D.S.... Malek J. (Genome Res. 2004)
    10. NALPs: a novel protein family involved in inflammation. (PubMed id 12563287)1, 3 Tschopp J.... Burns K. (Nat. Rev. Mol. Cell Biol. 2003)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     ANDOR
    Aliases
    Free Text  

      Query String
    PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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    Entrez Gene: 55655 HGNC: 22948 AceView: NALP2 Ensembl:ENSG00000022556 euGenes: HUgn55655
    ECgene: NLRP2 H-InvDB: NLRP2

    (According to HUGE)
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      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
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    NameDescription
    PharmGKB entry for NLRP2 Pharmacogenomics, SNPs, Pathways

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
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    Patent Information for NLRP2 gene:
    Search GeneIP for patents involving NLRP2

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



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