NLRP3 Chromosome 1
NLR family pyrin domain containing 3
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What This Gene Does
This gene encodes a pyrin-like protein containing a pyrin domain, a nucleotide-binding site (NBS) domain, and a leucine-rich repeat (LRR) motif. This protein interacts with the apoptosis-associated speck-like protein PYCARD/ASC, which contains a caspase recruitment domain, and is a member of the NLRP3 inflammasome complex. This complex functions as an upstream activator of NF-kappaB signaling, and it plays a role in the regulation of inflammation, the immune response, and apoptosis. The SARS-CoV 3a protein, a transmembrane pore-forming viroporin, has been shown to activate the NLRP3 inflammasome via the formation of ion channels in macrophages. Mutations in this gene are associated with familial cold autoinflammatory syndrome (FCAS), Muckle-Wells syndrome (MWS), chronic infantile neurological cutaneous and articular (CINCA) syndrome, neonatal-onset multisystem inflammatory disease (NOMID), keratoendotheliitis fugax hereditarian, and deafness, autosomal dominant 34, with or without inflammation. Multiple alternatively spliced transcript variants encoding distinct isoforms have been identified for this gene. Alternative 5' UTR structures are suggested by available data; however, insufficient evidence is available to determine if all of the represented 5' UTR splice patterns are biologically valid. [provided by RefSeq, Aug 2020]
Gene Info
Gene Group
"NLR family|Pyrin domain containing"
Locus Type
gene with protein product
Location
1q44
Ensembl
ENSG00000162711
Associated Conditions (33)
Familial cold autoinflammatory syndrome 1
Cryopyrin associated periodic syndrome
Autoinflammatory syndrome
Chronic infantile neurological
cutaneous and articular syndrome
Familial amyloid nephropathy with urticaria AND deafness
Kidney disorder
Hearing loss
autosomal dominant 34
with or without inflammation
Keratitis fugax hereditaria
NLRP3-related disorder
Inborn genetic diseases
Cleft palate
Hearing impairment
Focal segmental glomerulosclerosis
Acute myeloid leukemia
Hepatocellular carcinoma
Cervical cancer
Uterine corpus endometrial carcinoma
+13 more conditions
Key Variants
RS104895398
Conflicting classifications of pathogenicity
Familial cold autoinflammatory syndrome 1, Cryopyrin associated periodic syndrome, Autoinflammatory syndrome
Health Risk
RS1057515531
Conflicting classifications of pathogenicity
Familial cold autoinflammatory syndrome 1, Chronic infantile neurological, cutaneous and articular syndrome
Health Risk
RS117287351
Conflicting classifications of pathogenicity
Familial amyloid nephropathy with urticaria AND deafness, Chronic infantile neurological, cutaneous and articular syndrome
Health Risk
RS121908147
Conflicting classifications of pathogenicity
Familial cold autoinflammatory syndrome 1, Familial amyloid nephropathy with urticaria AND deafness, Chronic infantile neurological
Health Risk
RS1248156475
Conflicting classifications of pathogenicity
Cryopyrin associated periodic syndrome, Hearing loss, autosomal dominant 34
Health Risk
RS1342790456
Conflicting classifications of pathogenicity
Chronic infantile neurological, cutaneous and articular syndrome, Cryopyrin associated periodic syndrome
Health Risk
RS1351993448
Conflicting classifications of pathogenicity
Chronic infantile neurological, cutaneous and articular syndrome, Familial amyloid nephropathy with urticaria AND deafness
Health Risk
RS138946894
Conflicting classifications of pathogenicity
Cryopyrin associated periodic syndrome, Autoinflammatory syndrome, Familial amyloid nephropathy with urticaria AND deafness
Health Risk
RS139833874
Conflicting classifications of pathogenicity
Familial amyloid nephropathy with urticaria AND deafness, Chronic infantile neurological, cutaneous and articular syndrome
Health Risk
RS139852370
Conflicting classifications of pathogenicity
Chronic infantile neurological, cutaneous and articular syndrome, Familial cold autoinflammatory syndrome 1
Health Risk
RS140618467
Conflicting classifications of pathogenicity
Cryopyrin associated periodic syndrome, Autoinflammatory syndrome, Cryopyrin associated periodic syndrome
Health Risk
RS141389711
Conflicting classifications of pathogenicity
Familial amyloid nephropathy with urticaria AND deafness, Cryopyrin associated periodic syndrome, Chronic infantile neurological
Health Risk
All Variants (132)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS121908150 | Health Risk | Pathogenic | Familial amyloid nephropathy with urticaria AND deafness, Familial cold autoinflammatory syndrome 1, Cryopyrin associated periodic syndrome |
| RS121908151 | Health Risk | Pathogenic | Familial amyloid nephropathy with urticaria AND deafness, Familial cold autoinflammatory syndrome 1, Familial amyloid nephropathy with urticaria AND deafness |
| RS121908152 | Health Risk | Pathogenic | Chronic infantile neurological, cutaneous and articular syndrome, Familial cold autoinflammatory syndrome 1 |
| RS121908153 | Health Risk | Pathogenic | Familial amyloid nephropathy with urticaria AND deafness, Chronic infantile neurological, cutaneous and articular syndrome |
| RS121908154 | Health Risk | Pathogenic | Chronic infantile neurological, cutaneous and articular syndrome, Familial cold autoinflammatory syndrome 1 |
| RS151344629 | Health Risk | Pathogenic | Familial cold autoinflammatory syndrome 1, Familial amyloid nephropathy with urticaria AND deafness, Cryopyrin associated periodic syndrome |
| RS1553286808 | Health Risk | Pathogenic | Cryopyrin associated periodic syndrome, Cryopyrin associated periodic syndrome |
| RS1662701151 | Health Risk | Pathogenic | Cryopyrin associated periodic syndrome, Cryopyrin associated periodic syndrome |
| RS1662731815 | Health Risk | Pathogenic | Cryopyrin associated periodic syndrome, Cryopyrin associated periodic syndrome |
| RS180177438 | Health Risk | Pathogenic | Familial cold autoinflammatory syndrome 1, Familial cold autoinflammatory syndrome 1 |
| RS180177447 | Health Risk | Pathogenic | Familial cold autoinflammatory syndrome 1, Cryopyrin associated periodic syndrome, Familial cold autoinflammatory syndrome 1 |
| RS180177456 | Health Risk | Pathogenic | Familial cold autoinflammatory syndrome 1, Cryopyrin associated periodic syndrome, Familial cold autoinflammatory syndrome 1 |
| RS180177458 | Health Risk | Pathogenic | Familial cold autoinflammatory syndrome 1, Cryopyrin associated periodic syndrome, Familial cold autoinflammatory syndrome 1 |
| RS180177468 | Health Risk | Pathogenic | Familial cold autoinflammatory syndrome 1, Cryopyrin associated periodic syndrome, Familial cold autoinflammatory syndrome 1 |
| RS180177469 | Health Risk | Pathogenic | Familial cold autoinflammatory syndrome 1, Chronic infantile neurological, cutaneous and articular syndrome |
| RS180177470 | Health Risk | Pathogenic | Familial cold autoinflammatory syndrome 1, Familial amyloid nephropathy with urticaria AND deafness, Cryopyrin associated periodic syndrome |
| RS180177478 | Health Risk | Pathogenic | Familial cold autoinflammatory syndrome 1, Cryopyrin associated periodic syndrome, Familial cold autoinflammatory syndrome 1 |
| RS180177484 | Health Risk | Pathogenic | Familial cold autoinflammatory syndrome 1, Cryopyrin associated periodic syndrome, Familial cold autoinflammatory syndrome 1 |
| RS2103083622 | Health Risk | Pathogenic | Cerebral arteriovenous malformation, Cerebral arteriovenous malformation |
| RS2527260044 | Health Risk | Pathogenic | Cryopyrin associated periodic syndrome, Cryopyrin associated periodic syndrome |
| RS28937896 | Health Risk | Pathogenic | Familial cold autoinflammatory syndrome 1, Cryopyrin associated periodic syndrome, Familial amyloid nephropathy with urticaria AND deafness |
| RS104895389 | Health Risk | Pathogenic/Likely pathogenic | Familial cold autoinflammatory syndrome 1, Cryopyrin associated periodic syndrome, Familial cold autoinflammatory syndrome 1 |
| RS121908146 | Health Risk | Pathogenic/Likely pathogenic | Familial cold autoinflammatory syndrome 1, Cryopyrin associated periodic syndrome, Familial amyloid nephropathy with urticaria AND deafness |
| RS121908149 | Health Risk | Pathogenic/Likely pathogenic | Familial amyloid nephropathy with urticaria AND deafness, Familial cold autoinflammatory syndrome 1, Cryopyrin associated periodic syndrome |
| RS180177430 | Health Risk | Pathogenic/Likely pathogenic | Familial cold autoinflammatory syndrome 1, Cryopyrin associated periodic syndrome, Familial cold autoinflammatory syndrome 1 |
| RS180177431 | Health Risk | Pathogenic/Likely pathogenic | Familial cold autoinflammatory syndrome 1, Autoinflammatory syndrome, Cryopyrin associated periodic syndrome |
| RS180177433 | Health Risk | Pathogenic/Likely pathogenic | Familial cold autoinflammatory syndrome 1, Cryopyrin associated periodic syndrome, Familial cold autoinflammatory syndrome 1 |
| RS180177441 | Health Risk | Pathogenic/Likely pathogenic | Familial cold autoinflammatory syndrome 1, Cryopyrin associated periodic syndrome, Familial cold autoinflammatory syndrome 1 |
| RS180177445 | Health Risk | Pathogenic/Likely pathogenic | Familial cold autoinflammatory syndrome 1, Cryopyrin associated periodic syndrome, Familial cold autoinflammatory syndrome 1 |
| RS180177452 | Health Risk | Pathogenic/Likely pathogenic | Familial cold autoinflammatory syndrome 1, Familial amyloid nephropathy with urticaria AND deafness, Chronic infantile neurological |
| RS2103107063 | Health Risk | Pathogenic/Likely pathogenic | Chronic infantile neurological, cutaneous and articular syndrome, Cryopyrin associated periodic syndrome |
| RS2103174031 | Health Risk | Pathogenic/Likely pathogenic | Keratitis fugax hereditaria, Familial cold autoinflammatory syndrome 1, Familial amyloid nephropathy with urticaria AND deafness |