NLRP12 Chromosome 19
NLR family pyrin domain containing 12
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What This Gene Does
This gene encodes a member of the CATERPILLER family of cytoplasmic proteins. The encoded protein, which contains an N-terminal pyrin domain, a NACHT domain, a NACHT-associated domain, and a C-terminus leucine-rich repeat region, functions as an attenuating factor of inflammation by suppressing inflammatory responses in activated monocytes. Mutations in this gene cause familial cold autoinflammatory syndrome type 2. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Mar 2013]
Gene Info
Gene Group
"NLR family|Pyrin domain containing"
Locus Type
gene with protein product
Location
19q13.42
Ensembl
ENSG00000142405
Associated Conditions (9)
Familial cold autoinflammatory syndrome 2
Autoinflammatory syndrome
NLRP12-related disorder
Inborn genetic diseases
Ovarian serous cystadenocarcinoma
Childhood-onset schizophrenia
Multisystem inflammatory syndrome in children
Autoimmune interstitial lung disease-arthritis syndrome
See cases
Key Variants
RS104895564
Conflicting classifications of pathogenicity
Familial cold autoinflammatory syndrome 2, Autoinflammatory syndrome, Familial cold autoinflammatory syndrome 2
Health Risk
RS104895565
Conflicting classifications of pathogenicity
Familial cold autoinflammatory syndrome 2, Autoinflammatory syndrome, Familial cold autoinflammatory syndrome 2
Health Risk
RS104895566
Conflicting classifications of pathogenicity
Familial cold autoinflammatory syndrome 2, NLRP12-related disorder, Familial cold autoinflammatory syndrome 2
Health Risk
RS104895570
Conflicting classifications of pathogenicity
Familial cold autoinflammatory syndrome 2, Autoinflammatory syndrome, NLRP12-related disorder
Health Risk
RS111754022
Conflicting classifications of pathogenicity
Familial cold autoinflammatory syndrome 2, Autoinflammatory syndrome, Familial cold autoinflammatory syndrome 2
Health Risk
RS1327772058
Conflicting classifications of pathogenicity
Familial cold autoinflammatory syndrome 2, Familial cold autoinflammatory syndrome 2
Health Risk
RS138493915
Conflicting classifications of pathogenicity
Familial cold autoinflammatory syndrome 2, Inborn genetic diseases, NLRP12-related disorder
Health Risk
RS138514430
Conflicting classifications of pathogenicity
Familial cold autoinflammatory syndrome 2, NLRP12-related disorder, Familial cold autoinflammatory syndrome 2
Health Risk
RS139165669
Conflicting classifications of pathogenicity
Autoinflammatory syndrome, Familial cold autoinflammatory syndrome 2, Autoinflammatory syndrome
Health Risk
RS139956424
Conflicting classifications of pathogenicity
Familial cold autoinflammatory syndrome 2, Inborn genetic diseases, Autoinflammatory syndrome
Health Risk
RS141245482
Conflicting classifications of pathogenicity
Familial cold autoinflammatory syndrome 2, Autoinflammatory syndrome, Familial cold autoinflammatory syndrome 2
Health Risk
RS141436635
Conflicting classifications of pathogenicity
Familial cold autoinflammatory syndrome 2, Familial cold autoinflammatory syndrome 2
Health Risk
All Variants (111)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS886054608 | Health Risk | Conflicting classifications of pathogenicity | Familial cold autoinflammatory syndrome 2, Familial cold autoinflammatory syndrome 2 |
| RS1248333537 | Health Risk | Likely pathogenic | Familial cold autoinflammatory syndrome 2, Familial cold autoinflammatory syndrome 2 |
| RS1568662444 | Health Risk | Likely pathogenic | — |
| RS1600700389 | Health Risk | Likely pathogenic | Autoinflammatory syndrome, Autoinflammatory syndrome |
| RS2122677940 | Health Risk | Likely pathogenic | Familial cold autoinflammatory syndrome 2, Familial cold autoinflammatory syndrome 2 |
| RS549438462 | Health Risk | Likely pathogenic | — |
| RS1302931500 | Health Risk | Pathogenic | Familial cold autoinflammatory syndrome 2, Familial cold autoinflammatory syndrome 2 |
| RS1404302953 | Health Risk | Pathogenic | Familial cold autoinflammatory syndrome 2, Familial cold autoinflammatory syndrome 2 |
| RS147080557 | Health Risk | Pathogenic/Likely pathogenic | Familial cold autoinflammatory syndrome 2, Familial cold autoinflammatory syndrome 2 |
| RS1599842537 | Health Risk | Pathogenic/Likely pathogenic | Familial cold autoinflammatory syndrome 2, See cases, Familial cold autoinflammatory syndrome 2 |
| RS766603266 | Health Risk | Pathogenic/Likely pathogenic | Familial cold autoinflammatory syndrome 2, Familial cold autoinflammatory syndrome 2 |