This gene encodes a member of the nucleotide-binding oligomerization domain/ leucine rich repeat/ pyrin domain containing (NLRP) subfamily, which belongs to the Nod-like receptor family of proteins. NLRP genes play roles in the mammalian innate immune system through inflammasome formation and activation of caspases. In addition, NLRP genes have been found to function during mam... See more...

Aliases for NLRP8 Gene

Aliases for NLRP8 Gene

  • NLR Family Pyrin Domain Containing 8 2 3 5
  • Nucleotide-Binding Oligomerization Domain, Leucine Rich Repeat And Pyrin Domain Containing 8 2 3
  • Nucleotide-Binding Oligomerization Domain Protein 16 3 4
  • NACHT, LRR And PYD Domains-Containing Protein 8 3 4
  • NACHT, Leucine Rich Repeat And PYD Containing 8 2 3
  • PYRIN And NACHT-Containing Protein 4 3 4
  • NALP8 3 4
  • NOD16 3 4
  • PAN4 3 4
  • CLR19.2 3

External Ids for NLRP8 Gene

Previous HGNC Symbols for NLRP8 Gene

  • NALP8

Previous GeneCards Identifiers for NLRP8 Gene

  • GC19P061152
  • GC19P056460
  • GC19P052769

Summaries for NLRP8 Gene

Entrez Gene Summary for NLRP8 Gene

  • This gene encodes a member of the nucleotide-binding oligomerization domain/ leucine rich repeat/ pyrin domain containing (NLRP) subfamily, which belongs to the Nod-like receptor family of proteins. NLRP genes play roles in the mammalian innate immune system through inflammasome formation and activation of caspases. In addition, NLRP genes have been found to function during mammalian reproduction. Consistent with a function during human preimplantation development, this gene is expressed at high levels in oocytes with decreased levels in embryos. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Sep 2016]

GeneCards Summary for NLRP8 Gene

NLRP8 (NLR Family Pyrin Domain Containing 8) is a Protein Coding gene. An important paralog of this gene is NLRP14.

UniProtKB/Swiss-Prot Summary for NLRP8 Gene

Gene Wiki entry for NLRP8 Gene

Additional gene information for NLRP8 Gene

No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for NLRP8 Gene

Genomics for NLRP8 Gene

GeneHancer (GH) Regulatory Elements for NLRP8 Gene

Promoters and enhancers for NLRP8 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
GH19J055466 Enhancer 1.4 FANTOM5 Ensembl ENCODE 5.5 -480.9 -480932 3.4 CTCF NCOR1 PHB2 ZBTB10 ZBTB11 TARDBP REST KLF4 KLF7 HES1 ENSG00000279063 SBK3 NLRP11 NLRP8 NLRP9 C19orf85 lnc-C19orf85-1
GH19J056293 Promoter/Enhancer 1.2 FANTOM5 Ensembl ENCODE 2.2 +347.5 347467 2.7 ZBTB40 ZNF316 NFIC MAFF MAFK NFIB ZFP36 NLRP5 ZSCAN5A NLRP11 NLRP8 ZNF583 NLRP13 RF00017-3086 LOC105372470 lnc-ZNF582-5 lnc-EDDM13-1
GH19J056089 Enhancer 1.1 FANTOM5 ENCODE dbSUPER 1.7 +143.8 143759 3.4 POLR2G POLR2A CLOCK EP300 ATF2 OSR2 MBD2 TRIM28 BRCA1 FOS NLRP5 NLRP11 ZSCAN5A NLRP8 lnc-ZNF444-2 lnc-ZNF787-2 ZNF787
GH19J056287 Enhancer 0.3 FANTOM5 2.1 +339.7 339730 0.2 NR2C1 ZSCAN5A NLRP5 NLRP8 NLRP11 ZNF583 LOC105372470 lnc-EDDM13-1 RF00017-3086 EDDM13 lnc-ZNF582-5
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around NLRP8 on UCSC Golden Path with GeneCards custom track

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for NLRP8

Genomic Locations for NLRP8 Gene

Genomic Locations for NLRP8 Gene
chr19:55,947,832-55,988,629
(GRCh38/hg38)
Size:
40,798 bases
Orientation:
Plus strand
chr19:56,459,198-56,499,995
(GRCh37/hg19)
Size:
40,798 bases
Orientation:
Plus strand

Genomic View for NLRP8 Gene

Genes around NLRP8 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
NLRP8 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for NLRP8 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for NLRP8 Gene

Proteins for NLRP8 Gene

  • Protein details for NLRP8 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q86W28-NALP8_HUMAN
    Recommended name:
    NACHT, LRR and PYD domains-containing protein 8
    Protein Accession:
    Q86W28
    Secondary Accessions:
    • Q7RTR4

    Protein attributes for NLRP8 Gene

    Size:
    1048 amino acids
    Molecular mass:
    119430 Da
    Quaternary structure:
    No Data Available

    Alternative splice isoforms for NLRP8 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for NLRP8 Gene

Post-translational modifications for NLRP8 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for NLRP8 Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for NLRP8 Gene

Domains & Families for NLRP8 Gene

Gene Families for NLRP8 Gene

Protein Domains for NLRP8 Gene

Blocks:
  • Leucine-rich repeat signature
  • Pyrin domain
InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for NLRP8 Gene

GenScript: Design optimal peptide antigens:
  • PYRIN and NACHT-containing protein 4 (NALP8_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q86W28

UniProtKB/Swiss-Prot:

NALP8_HUMAN :
  • Belongs to the NLRP family.
Family:
  • Belongs to the NLRP family.
genes like me logo Genes that share domains with NLRP8: view

Function for NLRP8 Gene

Molecular function for NLRP8 Gene

UniProtKB/Swiss-Prot Function:
Involved in inflammation.

Phenotypes From GWAS Catalog for NLRP8 Gene

Gene Ontology (GO) - Molecular Function for NLRP8 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003674 molecular_function ND --
GO:0005515 protein binding IEA --
GO:0005524 ATP binding IEA --
genes like me logo Genes that share ontologies with NLRP8: view
genes like me logo Genes that share phenotypes with NLRP8: view

Animal Model Products

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for NLRP8

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for NLRP8 Gene

Localization for NLRP8 Gene

Subcellular locations from UniProtKB/Swiss-Prot for NLRP8 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 NLRP8 gene
Compartment Confidence
plasma membrane 3
cytosol 3
extracellular 1
cytoskeleton 1
mitochondrion 1
nucleus 1

Gene Ontology (GO) - Cellular Components for NLRP8 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005575 cellular_component ND --
GO:0005737 cytoplasm IEA --
genes like me logo Genes that share ontologies with NLRP8: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for NLRP8 Gene

Pathways & Interactions for NLRP8 Gene

PathCards logo

SuperPathways for NLRP8 Gene

No Data Available

Interacting Proteins for NLRP8 Gene

STRING Interaction Network Preview (showing top 1 STRING interactants - click image to see details)
STRING Interaction Network
Selected Interacting proteins: ENSP00000291971 Q86W28-NALP8_HUMAN for NLRP8 Gene via STRING IID

;

Gene Ontology (GO) - Biological Process for NLRP8 Gene

None

No data available for Pathways by source and SIGNOR curated interactions for NLRP8 Gene

Drugs & Compounds for NLRP8 Gene

No Compound Related Data Available

Transcripts for NLRP8 Gene

mRNA/cDNA for NLRP8 Gene

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

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for NLRP8

Alternative Splicing Database (ASD) splice patterns (SP) for NLRP8 Gene

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

Relevant External Links for NLRP8 Gene

GeneLoc Exon Structure for
NLRP8

Expression for NLRP8 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for NLRP8 Gene

mRNA differential expression in normal tissues according to GTEx for NLRP8 Gene

This gene is overexpressed in Testis (x18.1), Breast - Mammary Tissue (x14.4), and Prostate (x12.1).

Protein differential expression in normal tissues from HIPED for NLRP8 Gene

This gene is overexpressed in Pancreatic juice (44.1) and Tonsil (19.9).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for NLRP8 Gene



Protein tissue co-expression partners for NLRP8 Gene

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for NLRP8

SOURCE GeneReport for Unigene cluster for NLRP8 Gene:

Hs.446925
genes like me logo Genes that share expression patterns with NLRP8: view

Primer Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA Expression by UniProt/SwissProt , Evidence on tissue expression from TISSUES and Phenotype-based relationships between genes and organs from Gene ORGANizer for NLRP8 Gene

Orthologs for NLRP8 Gene

This gene was present in the common ancestor of chordates.

Orthologs for NLRP8 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia NLRP8 31 30
  • 99.01 (n)
OneToOne
dog
(Canis familiaris)
Mammalia NLRP8 31 30
  • 73.52 (n)
OneToOne
cow
(Bos Taurus)
Mammalia NLRP8 31 30
  • 64.55 (n)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia -- 31
  • 28 (a)
OneToMany
lizard
(Anolis carolinensis)
Reptilia -- 31
  • 26 (a)
OneToMany
Species where no ortholog for NLRP8 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya 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)
  • mouse (Mus musculus)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • platypus (Ornithorhynchus anatinus)
  • rainbow trout (Oncorhynchus mykiss)
  • rat (Rattus norvegicus)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (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 NLRP8 Gene

ENSEMBL:
Gene Tree for NLRP8 (if available)
TreeFam:
Gene Tree for NLRP8 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for NLRP8: view image

Paralogs for NLRP8 Gene

(8) SIMAP similar genes for NLRP8 Gene using alignment to 1 proteins:

  • NALP8_HUMAN
genes like me logo Genes that share paralogs with NLRP8: view

Variants for NLRP8 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for NLRP8 Gene

SNP ID Clinical significance and condition Chr 19 pos Variation AA Info Type
769055 Benign: not provided 55,955,686(+) C/T MISSENSE_VARIANT
rs199475832 Not Provided: not provided 55,947,697(+) G/A
rs199475833 Not Provided: not provided 55,948,186(+) G/C MISSENSE_VARIANT
rs199475834 Not Provided: not provided 55,952,341(+) C/A INTRON_VARIANT
rs199475835 Not Provided: not provided 55,952,491(+) C/T INTRON_VARIANT

Additional dbSNP identifiers (rs#s) for NLRP8 Gene

Structural Variations from Database of Genomic Variants (DGV) for NLRP8 Gene

Variant ID Type Subtype PubMed ID
dgv3680n100 CNV gain 25217958
dgv3681n100 CNV gain 25217958
dgv6582n54 CNV gain 21841781
esv2669780 CNV deletion 23128226
esv2719001 CNV deletion 23290073
esv2719002 CNV deletion 23290073
esv3644849 CNV gain 21293372
esv3644851 CNV gain 21293372
nsv580351 CNV gain 21841781
nsv580352 CNV loss 21841781

Variation tolerance for NLRP8 Gene

Residual Variation Intolerance Score: 90.5% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 5.89; 74.26% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for NLRP8 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
NLRP8

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for NLRP8 Gene

Disorders for NLRP8 Gene

Additional Disease Information for NLRP8

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology

No disorders were found for NLRP8 Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for NLRP8 Gene

Publications for NLRP8 Gene

  1. NALPs: a novel protein family involved in inflammation. (PMID: 12563287) Tschopp J … Burns K (Nature reviews. Molecular cell biology 2003) 2 3 4 54
  2. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PMID: 20379614) Rose JE … Uhl GR (Molecular medicine (Cambridge, Mass.) 2010) 3 41 54
  3. The genetics of NOD-like receptors in Crohn's disease. (PMID: 20403135) Cummings JR … Jewell DP (Tissue antigens 2010) 3 41 54
  4. Genetic variants in apoptosis and immunoregulation-related genes are associated with risk of chronic lymphocytic leukemia. (PMID: 19074885) Enjuanes A … Campo E (Cancer research 2008) 3 41 54
  5. NODs: intracellular proteins involved in inflammation and apoptosis. (PMID: 12766759) Inohara N … Nuñez G (Nature reviews. Immunology 2003) 3 4 54

Products for NLRP8 Gene

Sources for NLRP8 Gene