NLRP2B
protein-codingNLR family pyrin domain containing 2B, the group of Pyrin domain containing|NLR family
Gene summary
Involved in several processes, including negative regulation of peptidyl-serine phosphorylation; negative regulation of signal transduction; and positive regulation of apoptotic process. Located in cytoplasm and nucleus. [provided by Alliance of Genome Resources, Jun 2026]
- NLRP2P
MANE transcript
Inheritance
ClinVar variants
Top phenotype
Max pathogenic AF
Genomic locus
External References & Databases
Transcript & Mutation Effects
hg38 • Region Span ~3.2 kbGenCC Phenotypes & Disease Associations
Curated gene-disease validity assertions and inheritance patterns
No GenCC data available for this gene.
ClinVar Associated Diseases & Phenotypes
Reported disease conditions connected to NLRP2B variants in ClinVar
No annotated ClinVar phenotypes.
ClinVar Variants & Pathogenicity by Type
Statistics based on transcript . Only rare variants are included.
We include only reliable ClinVar variants with their consequences to MANE Select, MANE Plus Clinical transcripts, or transcripts with TSL equal to 1. Click a count to filter the variants table below.
Slight differences between displayed counts and ClinVar may occur due to a different transcript/consequence chosen by our variant effect predictor, or because we classify Benign/Likely benign as Likely benign and Pathogenic/Likely pathogenic as Likely pathogenic.
| Effect | PathogenicP | Likely pathogenicLP | VUS | Likely benignLB | BenignB | Sum |
|---|---|---|---|---|---|---|
| synonymous | 0 | |||||
| missense | 0 | |||||
| nonsense | 0 | |||||
| start loss | 0 | |||||
| frameshift | 0 | |||||
| splice donor/acceptor (+/-2bp) | 0 | |||||
| Total | 0 | 0 | 0 | 0 | 0 | 0 |
Transcript Catalog
Annotated transcript isoforms across RefSeq and Ensembl databases
| Transcript ID | Source | Protein ID | Coding Exons | MANE Status |
|---|---|---|---|---|
| RefSeq | NP_001306896.1 | 1 | MANE Select | |
| Ensembl | ENSP00000488995.1 | 1 | MANE Select |
Gene Ontology (GO) Annotations & Pathways
Biological processes, molecular functions, cellular components and pathways
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
Cellular Component
- nucleus
- cytoplasm
dbNSFP Gene Annotations
Source:
- 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
- RVIS EVS
- -0.03
- RVIS percentile EVS
- 51.66