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Category   Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21
GIFtS

NLRP8 Gene

protein-coding   GIFtS: 46
GCID: GC19P056460

NLR family, pyrin domain containing 8

(Previous names: NACHT, leucine rich repeat and PYD containing 8 )
(Previous symbol: NALP8)
 Explore 4 diseases affiliated with
NLRP8 via our new
 Human Malady Compendium 
Biological research products
for NLRP8
    

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, and/or 10fRNAdb)
About This Section

Aliases
NLR Family, Pyrin Domain Containing 81 2     Nucleotide-Binding Oligomerization Domain Protein 162 3
NALP81 2 3 5     PYRIN And NACHT-Containing Protein 42 3
NOD161 2 3 5     NACHT, LRR And PYD Containing Protein 82
PAN41 2 3 5     NACHT, LRR And PYD Domains-Containing Protein 82
CLR19.21 2     Nucleotide-Binding Oligomerization Domain, Leucine Rich Repeat And Pyrin Domain
Containing 82
NACHT, Leucine Rich Repeat And PYD Containing 81 2     

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, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

Entrez Gene summary for NLRP8:
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)

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

Gene Wiki entry for NLRP8


(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 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000019.9  NC_018930.1  NT_011109.16  
Regulatory elements:
   Search SABiosciences Regulatory transcription factor binding sites for NLRP8
         Other transcription factors

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

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays 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, neXtProt, Ensembl, and/or Reactome, Modification sites according to 2PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE MOPED and PaxDb, 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 Uscn,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Uscn, Ontologies according to Gene Ontology Consortium 01 Mar 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, and/or Uscn)
About This Section

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
Subcellular location: Cytoplasm (By similarity)
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

Post-translational modifications:

  • View modification sites using PhosphoSitePlus2
  • View neXtProt modification sites for NX_Q86W28

  • NLRP8 Protein expression data from MOPED and PaxDb:    About this image 
    Estimated protein expression log10 (pmol).

    REFSEQ proteins: NP_789781.2  
    ENSEMBL proteins: 
     ENSP00000291971   ENSP00000468121  

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    Gene Ontology (GO): 1 cellular component term (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005737cytoplasm IEA--


    NLRP8 for ontologies           About GeneDecksing



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    (According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section

    NLRP8 for domains           About GeneDecksing

    3 InterPro domains/families:
     IPR007111 NACHT_NTPase
     IPR004020 DAPIN
     IPR011029 DEATH-like_dom

    Graphical View of Domain Structure for InterPro Entry Q86W28

    ProtoNet protein and cluster: Q86W28

    2 Blocks protein families:
    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


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013,
    bound targets from SABiosciences, miRNA Gene Targets from miRTarBase shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene.)
    About This Section

    Function Summary:

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

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    Gene Ontology (GO): 1 molecular function term (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005524ATP binding IEA--


    NLRP8 for ontologies           About GeneDecksing



    (Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, 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 Mar 2013 via Entrez Gene).
    About This Section



    Interactions:

        Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for NLRP8

    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
    About This Section
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    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 235 Homo sapiens; Mar 10 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
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    About This Section

    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

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    Additional cDNA sequence: AY154463.1 

    3 AceView cDNA sequences:

    AY154463 BK001109 NM_176811 

    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™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

    NLRP8 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS
    CGAP TAG: CTCCGCAAAA

    Microarray
    RNAseq (Illumina Body Map)
    (100×FPKM)½
    SAGE (Serial Analysis of Gene Expression)

    About this image
    See NLRP8 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for NLRP8

    SOURCE GeneReport for Unigene cluster: Hs.446925
        SABiosciences Custom PCR Arrays for NLRP8
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    In Situ
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    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)
    About This Section

    This gene was present in the common ancestor of chordates.

    Orthologs for NLRP8 gene from 2/6 species (see all 6)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    lizard
    (Anolis carolinensis)
    Reptilia NLRP66
    --
    --
    26(a)
    20(a)
    1 ↔ many
    possible ortholog
    GL343482.1(99797-112078)
    GL343281.1(869690-874415)
    zebrafish
    (Danio rerio)
    Actinopterygii si:ch211-213a13.76
    si:ch211-213a13.26
    (see all 220)
    si:ch211-213a13.2
    (see all 220)
    9(a)
    6(a)
    (see all 220)
    many ↔ many
    many ↔ many
    (see all 220)
    22(9052770-9070772)
    22(8948738-8996350)


    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)
    About This Section
    Paralogs for NLRP8 gene
    NLRP132  NLRP42  NLRP92  NLRP62  NLRP32  NLRP142  NLRP72  NLRP112  
    NLRP102  NLRP22  NLRP52  NLRP12  NLRP122  
    9 SIMAP similar genes for NLRP8 using alignment to 1 protein entry:     NALP8_HUMAN:
    NLRP14    NLRP5    NLRP7    NLRP9    NLRP2    NLRP4
    NLRP13    NLRP3    NLRP12

    NLRP8 for paralogs           About GeneDecksing



    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, UniProtKB, 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) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
    About This Section

    10/1180 NCBI SNPs in NLRP8 are shown (see all 1180    About this table
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 19 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1994758401,2
    C,untested56473560(+) CTCTCA/GCGGCC 2 T A mis10--------
    rs1994758421,2
    Cuntested56477697(+) TGAAGA/CTTCTA 2 I L mis10--------
    rs1478525691,2
    C,--56457282(+) CACTG-/TGGCTGGAA
    CGTGGTCAGCAA
    TGGTC
    1 -- us2k10--------
    rs1127345671,2
    --56457355(+) CCTCCG/ATGCAG 1 -- us2k11Minor allele frequency- A:0.50CSA 2
    rs783380161,2
    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
    rs1860112421,2
    --56457549(+) TTGGCC/TAGGTG 1 -- us2k10--------
    rs1380610131,2
    --56457565(+) GCTCAC/TACCTG 1 -- us2k10--------
    rs1913199311,2
    --56457657(+) ACCCCA/GTCTAT 1 -- us2k10--------

    HapMap Linkage Disequilibrium report for NLRP8 (56459198 - 56499995 bp)
    Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
    Database of Genomic Variants (DGV): 13 variations for NLRP8
         13 CNVs: 78288 89329 89330 89335 78285 78284 89331 89334 78283 78286 89332 78287 89336

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    (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.)
    About This Section

    NLRP8 for disorders           About GeneDecksing

    OMIM gene information: 609659    OMIM disorders: --

    4 diseases for NLRP8:    About MalaCards
    chronic lymphocytic leukemia    lymphocytic leukemia    crohn's disease    leukemia

    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)
    About This Section

    PubMed articles for NLRP8 gene integrated from 9 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. (2003)
    2. NODs: intracellular proteins involved in inflammation and apoptosis. (PubMed id 12766759)1, 2 Inohara N. and Nunez G. (2003)
    3. Genome-wide analysis of polymorphisms associated with cytokine responses in smallpox vaccine recipients. (PubMed id 22610502)1 Kennedy R.B....Poland G.A. (2012)
    4. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PubMed id 20379614)1 Rose J.E....Uhl G.R. (2010)
    5. The genetics of NOD-like receptors in Crohn's disease . (PubMed id 20403135)1 Cummings J.R....Jewell D.P. (2010)
    6. Genetic variants in apoptosis and immunoregulation-related genes are associated with risk of chronic lymphocytic leukemia. (PubMed id 19074885)1 Enjuanes A....Campo E. (2008)
    7. The consensus coding sequences of human breast and colorectal cancers. (PubMed id 16959974)2 Sjoeblom T.... Velculescu V.E. (2006)
    8. 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. (2006)

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     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)
    About This Section
    Entrez Gene: 126205 HGNC: 22940 AceView: NALP8 Ensembl:ENSG00000179709 euGenes: HUgn126205
    ECgene: NLRP8 H-InvDB: NLRP8

    (According to HUGE)
    About This Section
      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
    Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
    About This Section
    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.)
    About This Section
    Patent Information for NLRP8 gene:
    Search GeneIP for patents involving NLRP8

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



    (Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, SABiosciences, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Uscn, Thermo Fisher Scientific, Gene Editing from DNA2.0, Clones from EMD Millipore, OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Cell lines from GenScript and LifeMap BioReagents, PCR Arrays from SABiosciences, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, and/or Enzo Life Sciences),
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    About This Section

     
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    GeneCards Homepage - Last full update: 18 Mar 2013 - Incrementals: 21 Mar 2013 , 15 Apr 2013 , 27 Apr 2013

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    von Willebrand factor
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