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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, 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
  • NACHT, LRR And PYD Domains-Containing Protein 8 3
  • 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 for NLRP8 Gene

  • Involved in inflammation.

Gene Wiki entry for NLRP8 Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for NLRP8 Gene

Genomics for NLRP8 Gene

Regulatory Elements for NLRP8 Gene

Enhancers for NLRP8 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH19F055466 0.6 FANTOM5 5.5 -481.5 -481450 0.3 BCOR HDGF ZMYM3 ZNF48 ZBTB40 ZBTB7A ARID1B ZNF121 GATA3 KDM1A SBK3 NLRP11 NLRP8 NLRP9 ENSG00000283567 ENSG00000279063
GH19F056293 1.2 FANTOM5 ENCODE 2.2 +347.5 347467 2.7 ZNF316 MAFK ZBTB40 NLRP5 ZSCAN5A NLRP11 NLRP8 ZNF583 NLRP13 LOC105372470 ENSG00000267298
GH19F056287 0.4 FANTOM5 2.1 +339.7 339730 0.2 ZSCAN5A NLRP5 NLRP8 NLRP11 ZNF583 LOC105372470 ENSG00000267298
GH19F056089 1.6 FANTOM5 Ensembl ENCODE 1.7 +143.8 143759 3.4 CBX3 PKNOX1 JUN KLF17 MAX SIN3A FEZF1 BRCA1 RFX5 GATA3 NLRP5 NLRP11 ZSCAN5A NLRP8 ENSG00000223060 LINC01864
- Elite enhancer/Elite enhancer-gene association Download Table
Download GeneHancer data dump

Enhancers around NLRP8 on UCSC Golden Path with GeneCards custom track

Genomic Location for NLRP8 Gene

Chromosome:
19
Start:
55,947,832 bp from pter
End:
55,988,629 bp from pter
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

Suggested Antigen Peptide Sequences for NLRP8 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q86W28

UniProtKB/Swiss-Prot:

NALP8_HUMAN :
  • Contains 1 NACHT domain.
  • Belongs to the NLRP family.
  • Contains 5 LRR (leucine-rich) repeats.
Domain:
  • Contains 1 NACHT domain.
  • Contains 1 pyrin domain.
Family:
  • Belongs to the NLRP family.
Similarity:
  • Contains 5 LRR (leucine-rich) repeats.
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.

Gene Ontology (GO) - Molecular Function for NLRP8 Gene

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

Phenotypes for NLRP8 Gene

GenomeRNAi human phenotypes for NLRP8:
genes like me logo Genes that share phenotypes with NLRP8: view

Animal Model Products

Inhibitory RNA Products

Clone Products

Flow Cytometry Products

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
Jensen Localization Image for NLRP8 Gene COMPARTMENTS Subcellular localization image for NLRP8 gene
Compartment Confidence
cytosol 3
plasma membrane 3

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

Pathways & Interactions for NLRP8 Gene

SuperPathways for NLRP8 Gene

No Data Available

Interacting Proteins for NLRP8 Gene

Selected Interacting proteins: Q86W28-NALP8_HUMAN for NLRP8 Gene via IID

Gene Ontology (GO) - Biological Process for NLRP8 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0070997 neuron death IMP 22166940
genes like me logo Genes that share ontologies with NLRP8: view

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

Transcripts for NLRP8 Gene

mRNA/cDNA for NLRP8 Gene

(2) REFSEQ mRNAs :
(3) Selected AceView cDNA sequences:
(2) Ensembl transcripts including schematic representations, and UCSC links where relevant :

Inhibitory RNA Products

Clone Products

Flow Cytometry Products

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
ECgene alternative splicing isoforms 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

NURSA nuclear receptor signaling pathways regulating expression of NLRP8 Gene:

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 and mRNA Expression by UniProt/SwissProt 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 34 35
  • 99.01 (n)
dog
(Canis familiaris)
Mammalia NLRP8 34 35
  • 73.52 (n)
cow
(Bos Taurus)
Mammalia NLRP8 34 35
  • 64.55 (n)
oppossum
(Monodelphis domestica)
Mammalia -- 35
  • 28 (a)
OneToMany
lizard
(Anolis carolinensis)
Reptilia -- 35
  • 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)

Paralogs for NLRP8 Gene

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

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

Variants for NLRP8 Gene

Sequence variations from dbSNP and Humsavar for NLRP8 Gene

SNP ID Clin Chr 19 pos Sequence Context AA Info Type
rs61739987 A breast cancer sample 55,952,547(+) TCTGC(C/G)TACCT reference, missense
VAR_036384 A breast cancer sample
VAR_036385 A colorectal cancer sample
rs199475832 untested 55,947,697(+) CCATA(A/G)GGCAG upstream-variant-2KB
rs199475833 untested 55,948,186(+) TGGAC(A/C/G)ACGCG reference, missense

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)

Relevant External Links for NLRP8 Gene

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

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

Disorders for NLRP8 Gene

Relevant External Links for NLRP8

Genetic Association Database (GAD)
NLRP8
Human Genome Epidemiology (HuGE) Navigator
NLRP8
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
NLRP8

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. (Nat. Rev. Mol. Cell Biol. 2003) 2 3 4 64
  2. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PMID: 20379614) Rose J.E. … Uhl G.R. (Mol. Med. 2010) 3 46 64
  3. The genetics of NOD-like receptors in Crohn's disease. (PMID: 20403135) Cummings J.R. … Jewell D.P. (Tissue Antigens 2010) 3 46 64
  4. Genetic variants in apoptosis and immunoregulation-related genes are associated with risk of chronic lymphocytic leukemia. (PMID: 19074885) Enjuanes A. … Campo E. (Cancer Res. 2008) 3 46 64
  5. NODs: intracellular proteins involved in inflammation and apoptosis. (PMID: 12766759) Inohara N. … Nunez G. (Nat. Rev. Immunol. 2003) 3 4 64

Products for NLRP8 Gene

Sources for NLRP8 Gene

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