NLRP2B

NLR family pyrin domain containing 2B, the group of Pyrin domain containing|NLR family

Basic information

Region (hg38): X:57677067-57680260

Previous symbols: [ "NLRP2P" ]

Links

ENSG00000215174

∙ NCBI:286430 ∙ ∙ HGNC:29887 ∙ Uniprot:P0DMW2 ∙ AlphaFold ∙ GenCC ∙ jax ∙ Sfari ∙ GnomAD ∙ Pubmed ∙ ClinVar

Phenotypes

GenCC

Source: genCC

No genCC data.

ClinVar

This is a list of variants' phenotypes submitted to ClinVar and linked to the NLRP2B gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the NLRP2B gene is commonly pathogenic or not.

In the table, we include only reliable ClinVar variants with their consequences to MANE Select, Mane Plus Clinical transcripts, or transcripts with TSL equals 1. Click the count to view the source variants.

Warning: slight differences between displayed counts and the number of variants in ClinVar may occur, primarily due to (1) the application of a different transcript and/or consequence by our variant effect predictor or (2) differences in clinical significance: we classify Benign/Likely benign variants as Likely benign and Pathogenic/Likely pathogenic variants as Likely pathogenic.

Variant type	Pathogenic	Likely pathogenic	VUS	Likely benign	Benign	Sum
synonymous						0
missense						0
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	0	0	0

GnomAD

Source: gnomAD

dbNSFP

Source: dbNSFP

Function: FUNCTION: May function as a negative regulator of NF-kappa-B by preventing RELA/p65 phosphorylation at 'Ser-536', thereby inhibiting its transcriptional activity. Through NF-kappa-B regulation may control cytokine release upon Toll-like receptors activation and therefore play a role in modulation of innate immunity. May also play a role in cell cycle progression and apoptotic process. {ECO:0000269|PubMed:24871464}.;

Recessive Scores

pRec: 0.125

Intolerance Scores

loftool
rvis_EVS: -0.03
rvis_percentile_EVS: 51.66

Haploinsufficiency Scores

pHI: 0.255
hipred: N
hipred_score: 0.376
ghis

Mouse Genome Informatics

Gene name: Pop4
Phenotype: mortality/aging (the observable characteristics related to the ability of a mammalian organism to live and age that are manifested throughout development and life span); normal phenotype; homeostasis/metabolism phenotype;

Gene ontology

Biological process: negative regulation of tumor necrosis factor-mediated signaling pathway;negative regulation of NF-kappaB transcription factor activity;negative regulation of peptidyl-serine phosphorylation;negative regulation of toll-like receptor signaling pathway;positive regulation of apoptotic process;innate immune response;negative regulation of cell cycle;negative regulation of interleukin-1 beta secretion;negative regulation of NLRP3 inflammasome complex assembly
Cellular component: nucleus;cytoplasm
Molecular function