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NLRP3 |
Gene Facts External Data Attribution
- HGNC Symbol
- NLRP3 (HGNC:16400) HGNC Entrez Ensembl OMIM UCSC Uniprot GeneReviews LOVD LSDB ClinVar
- HGNC Name
- NLR family pyrin domain containing 3
- Gene type
- protein-coding gene
- Locus type
- gene with protein product
- Previous symbols
- C1orf7, CIAS1, DFNA34
- Alias symbols
- AGTAVPRL, AII, AVP, FCAS, FCU, NALP3, PYPAF1, MWS, CLR1.1
- %HI
- 75.44(Read more about the DECIPHER Haploinsufficiency Index)
- pLI
- 0(Read more about gnomAD pLI score)
- LOEUF
- 0.64(Read more about gnomAD LOEUF score)
- Cytoband
- 1q44
- Genomic Coordinates
-
GRCh37/hg19: chr1:247579475-247612119 NCBI Ensembl UCSC GRCh38/hg38: chr1:247416077-247448817 NCBI Ensembl UCSC - MANE Select Transcript
- NM_001243133.2 ENST00000336119.8 (Read more about MANE Select)
- Function
- Sensor component of the NLRP3 inflammasome, which mediates inflammasome activation in response to defects in membrane integrity, leading to secretion of inflammatory cytokines IL1B and IL18 and pyroptosis (PubMed:16407889, PubMed:18604214, PubMed:18403674, PubMed:23582325, PubMed:28847925, PubMed:33231615, PubMed:34133077, PubMed:34341353, PubMed:27929086, PubMed:28656979, PubMed:25686105, PubMed:30487600, PubMed:30612879, PubMed:31086327, PubMed:31086329, PubMed:31189953, PubMed:34512673, PubMe... (Source: Uniprot)
Dosage Sensitivity Summary (Gene)
Dosage ID:
ISCA-26840
Curation Status:
Under Primary Review
Issue Type:
Dosage Curation -
Gene
Haploinsufficiency:
Under Primary Review
Triplosensitivity:
Under Primary Review
Last Evaluated:
Under Primary Review
Haploinsufficiency (HI) Score Details
Review not yet complete.
Triplosensitivity (TS) Score Details
Review not yet complete.
Genomic View
Select assembly:
(NC_000001.10)
(NC_000001.11)
