PNPLA2 Chromosome 11
Patatin like domain 2, triacylglycerol lipase
Upload your DNA to see your personal genotypes for variants in PNPLA2.
What This Gene Does
This gene encodes an enzyme which catalyzes the first step in the hydrolysis of triglycerides in adipose tissue. Mutations in this gene are associated with neutral lipid storage disease with myopathy. [provided by RefSeq, Jul 2010]
Gene Info
Gene Group
"Lipases|Patatin like phospholipase domain containing"
Locus Type
gene with protein product
Location
11p15.5
Ensembl
ENSG00000177666
Associated Conditions (4)
Neutral lipid storage myopathy
PNPLA2-related disorder
Inborn genetic diseases
Abnormality of the musculature
Key Variants
RS121908832
Conflicting classifications of pathogenicity
Neutral lipid storage myopathy, Neutral lipid storage myopathy
Health Risk
RS137866968
Conflicting classifications of pathogenicity
Neutral lipid storage myopathy, Neutral lipid storage myopathy
Health Risk
RS139576982
Conflicting classifications of pathogenicity
Neutral lipid storage myopathy, Neutral lipid storage myopathy
Health Risk
RS140634178
Conflicting classifications of pathogenicity
Neutral lipid storage myopathy, PNPLA2-related disorder, Neutral lipid storage myopathy
Health Risk
RS140959695
Conflicting classifications of pathogenicity
Neutral lipid storage myopathy, Neutral lipid storage myopathy
Health Risk
RS141190104
Conflicting classifications of pathogenicity
Neutral lipid storage myopathy, Neutral lipid storage myopathy
Health Risk
RS142174851
Conflicting classifications of pathogenicity
Neutral lipid storage myopathy, Neutral lipid storage myopathy
Health Risk
RS142588621
Conflicting classifications of pathogenicity
Neutral lipid storage myopathy, Neutral lipid storage myopathy
Health Risk
RS1434319423
Conflicting classifications of pathogenicity
Neutral lipid storage myopathy, Neutral lipid storage myopathy
Health Risk
RS143992505
Conflicting classifications of pathogenicity
Neutral lipid storage myopathy, Neutral lipid storage myopathy
Health Risk
RS144220751
Conflicting classifications of pathogenicity
Neutral lipid storage myopathy, Neutral lipid storage myopathy
Health Risk
RS147314508
Conflicting classifications of pathogenicity
Neutral lipid storage myopathy, Neutral lipid storage myopathy
Health Risk
All Variants (65)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS2495547976 | Health Risk | Pathogenic | Neutral lipid storage myopathy, Neutral lipid storage myopathy |
| RS2495553147 | Health Risk | Pathogenic | Neutral lipid storage myopathy, Neutral lipid storage myopathy |
| RS2495553252 | Health Risk | Pathogenic | Neutral lipid storage myopathy, Neutral lipid storage myopathy |
| RS397514625 | Health Risk | Pathogenic | Neutral lipid storage myopathy, Neutral lipid storage myopathy |
| RS554737718 | Health Risk | Pathogenic | Neutral lipid storage myopathy, Neutral lipid storage myopathy |
| RS777539013 | Health Risk | Pathogenic | Neutral lipid storage myopathy, Neutral lipid storage myopathy |
| RS796065303 | Health Risk | Pathogenic | Neutral lipid storage myopathy, Neutral lipid storage myopathy |
| RS796065304 | Health Risk | Pathogenic | Neutral lipid storage myopathy, Neutral lipid storage myopathy |
| RS796065307 | Health Risk | Pathogenic | Neutral lipid storage myopathy, Neutral lipid storage myopathy |
| RS796065308 | Health Risk | Pathogenic | Neutral lipid storage myopathy, Inborn genetic diseases, Neutral lipid storage myopathy |
| RS796065309 | Health Risk | Pathogenic | Neutral lipid storage myopathy, Neutral lipid storage myopathy |
| RS796065310 | Health Risk | Pathogenic | Neutral lipid storage myopathy, Neutral lipid storage myopathy |
| RS869320738 | Health Risk | Pathogenic | Neutral lipid storage myopathy, Neutral lipid storage myopathy |
| RS1554975332 | Health Risk | Pathogenic/Likely pathogenic | Inborn genetic diseases, Neutral lipid storage myopathy, Inborn genetic diseases |
| RS2133849513 | Health Risk | Pathogenic/Likely pathogenic | Neutral lipid storage myopathy, Neutral lipid storage myopathy |