U.S. flag

An official website of the United States government

Format

Send to:

Choose Destination

NLRP8 NLR family pyrin domain containing 8 [ Homo sapiens (human) ]

Gene ID: 126205, updated on 5-Mar-2024

Summary

Go to the top of the page Help
Official Symbol
NLRP8provided by HGNC
Official Full Name
NLR family pyrin domain containing 8provided by HGNC
Primary source
HGNC:HGNC:22940
See related
Ensembl:ENSG00000179709 MIM:609659; AllianceGenome:HGNC:22940
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
PAN4; NALP8; NOD16; CLR19.2
Summary
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]
Expression
Low expression observed in reference dataset See more
Orthologs
all
NEW
Try the new Gene table
Try the new Transcript table

Genomic context

Go to the top of the page Help
See NLRP8 in Genome Data Viewer
Location:
19q13.43
Exon count:
10
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 19 NC_000019.10 (55947832..55988629)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 19 NC_060943.1 (59047150..59087952)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 19 NC_000019.9 (56459198..56499995)

Chromosome 19 - NC_000019.10Genomic Context describing neighboring genes Neighboring gene NLR family pyrin domain containing 11 Neighboring gene NLR family pyrin domain containing 4 Neighboring gene NLR family pyrin domain containing 13 Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr19:56480507-56481706 Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr19:56537936-56539135 Neighboring gene NLR family pyrin domain containing 5 Neighboring gene long intergenic non-protein coding RNA 1864

Genomic regions, transcripts, and products

Go to the top of the page Help

Go to nucleotide: Graphics FASTA GenBank

Expression

Go to the top of the page Help
  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

Go to the top of the pageHelp

Related articles in PubMed

  1. Expression analysis of the NLRP gene family suggests a role in human preimplantation development. Zhang P, et al. PLoS One, 2008 Jul 23. PMID 18648497, Free PMC Article
  2. A genome-wide study reveals rare CNVs exclusive to extreme phenotypes of Alzheimer disease. Rovelet-Lecrux A, et al. Eur J Hum Genet, 2012 Jun. PMID 22166940, Free PMC Article
  3. NODs: intracellular proteins involved in inflammation and apoptosis. Inohara N, et al. Nat Rev Immunol, 2003 May. PMID 12766759
  4. The genetics of NOD-like receptors in Crohn's disease. Cummings JR, et al. Tissue Antigens, 2010 Jul. PMID 20403135
  5. NALPs: a novel protein family involved in inflammation. Tschopp J, et al. Nat Rev Mol Cell Biol, 2003 Feb. PMID 12563287

See all (11) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. Clinical trial of gene-disease association and gene-environment interaction. (HuGE Navigator)
    Title: Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.
  2. Observational study of gene-disease association. (HuGE Navigator)
    Title: The genetics of NOD-like receptors in Crohn's disease.
Submit: New GeneRIF Correction

Phenotypes

Go to the top of the page Help

Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

EBI GWAS Catalog

Description
Genome-wide analysis of polymorphisms associated with cytokine responses in smallpox vaccine recipients.
EBI GWAS Catalog
Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.
EBI GWAS Catalog

Variation

Go to the top of the page Help

See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Genotypes

Interactions

Go to the top of the page Help
Products Interactant Other Gene Complex Source Pubs Description

General gene information

Go to the top of the page Help

Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables ATP binding IEA
Inferred from Electronic Annotation
more info
  
enables molecular_function ND
No biological Data available
more info
  
Process Evidence Code Pubs
involved_in regulation of inflammatory response IBA
Inferred from Biological aspect of Ancestor
more info
  
Component Evidence Code Pubs
is_active_in cellular_component ND
No biological Data available
more info
  
is_active_in cytoplasm IBA
Inferred from Biological aspect of Ancestor
more info
  

General protein information

Go to the top of the page Help
Preferred Names
NACHT, LRR and PYD domains-containing protein 8
Names
NACHT, leucine rich repeat and PYD containing 8
PYRIN and NACHT-containing protein 4
nucleotide-binding oligomerization domain protein 16
nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 8

NCBI Reference Sequences (RefSeq)

Go to the top of the page Help

NEW Try the new Transcript table

RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

  1. NG_051553.1 RefSeqGene

    Range
    5001..45798
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001317000.1 → NP_001303929.1  NACHT, LRR and PYD domains-containing protein 8 isoform 2

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) uses an alternate in-frame splice junction compared to variant 1. The resulting isoform (2) has the same N- and C-termini but is shorter compared to isoform 1.
    Source sequence(s)
    AY154463, BK001109
    Consensus CDS
    CCDS82402.1
    UniProtKB/Swiss-Prot
    Q86W28
    Related
    ENSP00000468121.1, ENST00000590542.1
    Conserved Domains (6) summary
    COG4886
    Location:810 → 974
    LRR; Leucine-rich repeat (LRR) protein [Transcription]
    cd00116
    Location:775 → 988
    LRR_RI; Leucine-rich repeats (LRRs), ribonuclease inhibitor (RI)-like subfamily. LRRs are 20-29 residue sequence motifs present in many proteins that participate in protein-protein interactions and have different functions and cellular locations. LRRs correspond ...
    cd08320
    Location:41 → 123
    Pyrin_NALPs; Pyrin death domain found in NALP proteins
    sd00033
    Location:818 → 846
    LRR_RI; leucine-rich repeat [structural motif]
    sd00034
    Location:734 → 760
    LRR_AMN1; leucine-rich repeat [structural motif]
    cl21455
    Location:205 → 372
    P-loop_NTPase; P-loop containing Nucleoside Triphosphate Hydrolases

  2. NM_176811.2 → NP_789781.2  NACHT, LRR and PYD domains-containing protein 8 isoform 1

    See identical proteins and their annotated locations for NP_789781.2

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (1).
    Source sequence(s)
    BK001109
    Consensus CDS
    CCDS12937.1
    UniProtKB/Swiss-Prot
    Q7RTR4, Q86W28
    Related
    ENSP00000291971.3, ENST00000291971.7
    Conserved Domains (5) summary
    COG4886
    Location:810 → 993
    LRR; Leucine-rich repeat (LRR) protein [Transcription]
    cd00116
    Location:781 → 1007
    LRR_RI; Leucine-rich repeats (LRRs), ribonuclease inhibitor (RI)-like subfamily. LRRs are 20-29 residue sequence motifs present in many proteins that participate in protein-protein interactions and have different functions and cellular locations. LRRs correspond ...
    cd08320
    Location:41 → 123
    Pyrin_NALPs; Pyrin death domain found in NALP proteins
    sd00034
    Location:790 → 817
    LRR_AMN1; leucine-rich repeat [structural motif]
    cl21455
    Location:205 → 372
    P-loop_NTPase; P-loop containing Nucleoside Triphosphate Hydrolases

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000019.10 Reference GRCh38.p14 Primary Assembly

    Range
    55947832..55988629
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060943.1 Alternate T2T-CHM13v2.0

    Range
    59047150..59087952
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_054319788.1 → XP_054175763.1  NACHT, LRR and PYD domains-containing protein 8 isoform X1

  2. XM_054319789.1 → XP_054175764.1  NACHT, LRR and PYD domains-containing protein 8 isoform X2

Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q86W28.2 GenPept UniProtKB/Swiss-Prot:Q86W28

Gene LinkOut

The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

Chemical Information
Molecular Biology Databases
Research Materials
Tools
Miscellaneous