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NLRP8 Gene

protein-coding   GIFtS: 49
GCID: GC19P056460

NLR Family, Pyrin Domain Containing 8

(Previous names: NACHT, leucine rich repeat and PYD containing 8)
(Previous symbol: NALP8)
  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 81 2     Leucine Rich Repeat And Pyrin Domain Containing 81
NALP81 2 3 5     Nucleotide-Binding Oligomerization Domain1
NOD162 3 5     CLR19.22
PAN42 3 5     NACHT, LRR And PYD Containing Protein 82
NACHT, Leucine Rich Repeat And PYD Containing 81 2     NACHT, LRR And PYD Domains-Containing Protein 82
Nucleotide-Binding Oligomerization Domain Protein 162 3     Nucleotide-Binding Oligomerization Domain, Leucine Rich Repeat And Pyrin
Domain Containing 82
PYRIN And NACHT-Containing Protein 42 3     

External Ids:    HGNC: 229401   Entrez Gene: 1262052   Ensembl: ENSG000001797097   OMIM: 6096595   UniProtKB: Q86W283   

Export aliases for NLRP8 gene to outside databases

Previous GC identifers: GC19P061152 GC19P052769


(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 NLRP8 Gene:
NALPs are cytoplasmic proteins that form a subfamily within the larger CATERPILLER protein family. Most short
NALPs, such as NALP8, have an N-terminal pyrin (MEFV; MIM 608107) domain (PYD), followed by a NACHT domain, a
NACHT-associated domain (NAD), and a C-terminal leucine-rich repeat (LRR) region. The long NALP, NALP1 (MIM
606636), also has a C-terminal extension containing a function to find domain (FIIND) and a caspase recruitment
domain (CARD). NALPs are implicated in the activation of proinflammatory caspases (e.g., CASP1; MIM 147678) via
their involvement in multiprotein complexes called inflammasomes (Tschopp et al., 2003 (PubMed
12563287)).(supplied by OMIM, Mar 2008)

GeneCards Summary for NLRP8 Gene:
NLRP8 (NLR family, pyrin domain containing 8) is a protein-coding gene. Diseases associated with NLRP8 include smallpox, and crohn's disease. An important paralog of this gene is NLRP4.

UniProtKB/Swiss-Prot: NALP8_HUMAN, Q86W28
Function: Involved in inflammation (Potential)

Gene Wiki entry for NLRP8 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  NT_011109.17  NC_018930.2  
Regulatory elements:
   Search for regulatory transcription factor binding sites for NLRP8
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidNLRP8 promoter sequence
   Search Chromatin IP Primers for NLRP8

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat NLRP8


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

Entrez Gene cytogenetic band: 19q13.43   Ensembl cytogenetic band:  19q13.43   HGNC cytogenetic band: 19q13.43

NLRP8 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
NLRP8 gene location

GeneLoc information about chromosome 19         GeneLoc Exon Structure

GeneLoc location for GC19P056460:  view genomic region     (about GC identifiers)

Start:
56,459,198 bp from pter      End:
56,499,995 bp from pter
Size:
40,798 bases      Orientation:
plus strand

(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: NALP8_HUMAN, Q86W28 (See protein sequence)
Recommended Name: NACHT, LRR and PYD domains-containing protein 8  
Size: 1048 amino acids; 119430 Da
Secondary accessions: Q7RTR4
Alternative splicing: 2 isoforms:  Q86W28-1   Q86W28-2   (No experimental confirmation available)

Explore the universe of human proteins at neXtProt for NLRP8: NX_Q86W28

Explore proteomics data for NLRP8 at MOPED

Post-translational modifications: 

  • Modification sites at neXtProt
  • Modification sites at PhosphoSitePlus

  • See NLRP8 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins: NP_789781.2  
    ENSEMBL proteins: 
     ENSP00000291971   ENSP00000468121  

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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: NLRP8
    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 Q86W28

    ProtoNet protein and cluster: Q86W28

    2 Blocks protein domains:
    IPB001611 Leucine-rich repeat signature
    IPB004020 Pyrin domain


    UniProtKB/Swiss-Prot: NALP8_HUMAN, Q86W28
    Similarity: Belongs to the NLRP family
    Similarity: Contains 1 DAPIN domain
    Similarity: Contains 5 LRR (leucine-rich) repeats
    Similarity: Contains 1 NACHT domain


    NLRP8 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: NALP8_HUMAN, Q86W28
    Function: Involved in inflammation (Potential)

         Gene Ontology (GO): 2 molecular function terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0003674molecular_function ND--
    GO:0005524ATP binding IEA--
         
    NLRP8 for ontologies           About GeneDecksing


    Animal Models:
       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for NLRP8
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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
    NALP8_HUMAN, Q86W28: Cytoplasm (By similarity)
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    cytosol3
    plasma membrane3

    Gene Ontology (GO): 2 cellular component terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005575cellular_component ND--
    GO:0005737cytoplasm IEA--

    NLRP8 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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        Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for NLRP8
    Interactions:

        Search GeneGlobe Interaction Network for NLRP8

    Gene Ontology (GO): 1 biological process term:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0070997neuron death IMP--

    NLRP8 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 NLRP8 (NALP8)



    (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 NLRP8 gene: 
    NM_176811.2  

    Unigene Cluster for NLRP8:

    NLR family, pyrin domain containing 8
    Hs.446925
    Unigene Representative Sequence: NM_176811
    2 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000291971(uc002qmh.3 uc010etg.3) ENST00000590542
    miRNA
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    Additional mRNA sequence: AY154463.1 

    3 AceView cDNA sequences:

    AY154463 NM_176811 BK001109 

    GeneLoc Exon Structure

    2 Alternative Splicing Database (ASD) splice patterns (SP) for NLRP8    About this scheme

    ExUns: 1a · 1b ^ 2 ^ 3 ^ 4 ^ 5 ^ 6 ^ 7a · 7b ^ 8 ^ 9 ^ 10a · 10b
    SP1:                                                                              
    SP2:                                            -                                 


    ECgene alternative splicing isoforms for NLRP8

    (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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    NLRP8 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: CTCCGCAAAA
    NLRP8 Expression
    About this image

    NLRP8 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    NLRP8 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.446925
        Custom PCR Arrays for NLRP8
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    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for NLRP8

    (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 NLRP8 gene from Selected species (see all 5)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    dog
    (Canis familiaris)
    Mammalia NLRP81 NLR family, pyrin domain containing 8 73.52(n)
    62.02(a)
      611217  XM_848854.2  XP_853947.1 
    lizard
    (Anolis carolinensis)
    Reptilia --
    Uncharacterized protein
    26(a)
    1 → many
    GL343482.1(99797-117577)


    ENSEMBL Gene Tree for NLRP8 (if available)
    TreeFam Gene Tree for NLRP8 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for NLRP8 gene
    NLRP42  NLRP132  NLRP92  NLRC32  NLRP62  NLRP32  NLRP142  NLRP72  
    NLRP112  NLRP102  NLRP22  NLRP52  NLRP122  
    8 SIMAP similar genes for NLRP8 using alignment to 1 protein entry:     NALP8_HUMAN:
    NLRP14    NLRP5    NLRP7    NLRP9    NLRP2    NLRP4
    NLRP13    NLRP3

    NLRP8 for paralogs           About GeneDecksing



    (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 NLRP8 (see all 1381)    About this table    
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 19 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    VAR_0363854
    A colorectal cancer sample4--see VAR_0363852 Q L mis40--------
    VAR_0363834
    A breast cancer sample4--see VAR_0363832 P R mis40--------
    VAR_0363844
    A breast cancer sample4--see VAR_0363842 E V mis40--------
    rs1994758401,2
    Cuntested156473560(+) CTCTCA/GCGGCC 2 T A mis10--------
    rs1994758421,2
    Cuntested156477697(+) TGAAGA/CTTCTA 2 I L mis10--------
    rs1478525691,2
    C--56457282(+) CACTG-/TGGCTGGAA
    CGTGGTCAGCAA
    TGGTC
    1 -- us2k10--------
    rs1127345671,2
    C,F--56457355(+) CCTCCG/ATGCAG 1 -- us2k11Minor allele frequency- A:0.50CSA 2
    rs783380161,2
    C,F--56457447(+) CTACTC/GTGGAC 1 -- us2k11Minor allele frequency- G:0.11NA 120
    rs6745731,2
    C,F--56457455(-) TCCCTT/CGGGTC 1 -- us2k19Minor allele frequency- C:0.50WA NA CSA EA 368
    rs570578521,2
    C,F--56457518(+) ATAAGA/CGGGAG 1 -- us2k16Minor allele frequency- C:0.13NA WA EA 364

    HapMap Linkage Disequilibrium report for NLRP8 (56459198 - 56499995 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 5 variations for NLRP8:    About this table    
    Variant IDTypeSubtypePubMed ID
    esv2719002CNV Deletion23290073
    esv2719001CNV Deletion23290073
    esv2669780CNV Deletion23128226
    nsv912507CNV Gain21882294
    nsv912510CNV Gain21882294

    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing NLRP8
    DNA2.0 Custom Variant and Variant Library Synthesis for NLRP8

    (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: 609659    OMIM disorders: --

    7 diseases for NLRP8:    
    About MalaCards
    smallpox    crohn's disease    breast and colorectal cancer    chronic lymphocytic leukemia
    obesity    leukemia    colorectal cancer


    NLRP8 for disorders           About GeneDecksing

    Genetic Association Database (GAD): NLRP8
    Human Genome Epidemiology (HuGE) Navigator: NLRP8 (3 documents)

    Export disorders for NLRP8 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 NLRP8 gene integrated from 10 sources:
    (articles sorted by number of sources associating them with NLRP8)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. NALPs: a novel protein family involved in inflammation. (PubMed id 12563287)1, 2, 3 Tschopp J.... Burns K. (Nat. Rev. Mol. Cell Biol. 2003)
    2. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PubMed id 20379614)1, 4 Rose J.E....Uhl G.R. (Mol. Med. 2010)
    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. 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)
    5. NODs: intracellular proteins involved in inflammation and apoptosis. (PubMed id 12766759)1, 2 Inohara N. and Nunez G. (Nat. Rev. Immunol. 2003)
    6. Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population. (PubMed id 23251661)1 Comuzzie A.G....Butte N.F. (PLoS ONE 2012)
    7. Genome-wide analysis of polymorphisms associated with cytokine responses in smallpox vaccine recipients. (PubMed id 22610502)1 Kennedy R.B....Poland G.A. (Hum. Genet. 2012)
    8. The consensus coding sequences of human breast and colorectal cancers. (PubMed id 16959974)2 Sjoeblom T.... Velculescu V.E. (Science 2006)
    9. Bovine NALP5, NALP8, and NALP9 genes: assignment to a QTL region and the expression in adult tissues, oocytes, and preimplantation embryos. (PubMed id 16339045)9 Ponsuksili S....Schwerin M. (Biol. Reprod. 2006)

    (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: 126205 HGNC: 22940 AceView: NALP8 Ensembl:ENSG00000179709 euGenes: HUgn126205
    ECgene: NLRP8 H-InvDB: NLRP8

    (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 NLRP8 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 NLRP8 gene:
    Search GeneIP for patents involving NLRP8

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    (Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Cloud-Clone Corp., Thermo Fisher Scientific, LSBio, Gene Editing from DNA2.0. Clones from OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Cell lines from GenScript, and ESI BIO, PCR Arrays from QIAGEN, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, Enzo Life Sciences, and/or ApexBio, In Situ Hybridization Assays from
    Advanced Cell Diagnostics, Animal models from inGenious Targeting Laboratory, genOway)
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     OriGene Antibodies for NLRP8   OriGene RNAi products in human, mouse, rat for NLRP8  
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     Block miRNA regulation of human, mouse, rat NLRP8 using miScript Target Protectors SeqTarget long-range PCR primers for resequencing NLRP8
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     Gene Synthesis
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