LPIN2 Chromosome 18
Lipin 2
Upload your DNA to see your personal genotypes for variants in LPIN2.
What This Gene Does
Mouse studies suggest that this gene functions during normal adipose tissue development and may play a role in human triglyceride metabolism. This gene represents a candidate gene for human lipodystrophy, characterized by loss of body fat, fatty liver, hypertriglyceridemia, and insulin resistance. [provided by RefSeq, Jul 2008]
Gene Info
Gene Group
Lipins
Locus Type
gene with protein product
Location
18p11.31
Ensembl
ENSG00000101577
Associated Conditions (7)
Majeed syndrome
Autoinflammatory syndrome
LPIN2-related disorder
Malignant tumor of urinary bladder
Acute myeloid leukemia
See cases
Inborn genetic diseases
Key Variants
RS104895500
Conflicting classifications of pathogenicity
Majeed syndrome, Autoinflammatory syndrome, LPIN2-related disorder
Health Risk
RS140249737
Conflicting classifications of pathogenicity
Majeed syndrome, Autoinflammatory syndrome, LPIN2-related disorder
Health Risk
RS140609636
Conflicting classifications of pathogenicity
Majeed syndrome, Autoinflammatory syndrome, LPIN2-related disorder
Health Risk
RS1414200193
Conflicting classifications of pathogenicity
Autoinflammatory syndrome, Majeed syndrome, Autoinflammatory syndrome
Health Risk
RS143562359
Conflicting classifications of pathogenicity
Majeed syndrome, Majeed syndrome
Health Risk
RS145412418
Conflicting classifications of pathogenicity
Majeed syndrome, Autoinflammatory syndrome, Majeed syndrome
Health Risk
RS1454496778
Conflicting classifications of pathogenicity
Majeed syndrome, Majeed syndrome
Health Risk
RS147615538
Conflicting classifications of pathogenicity
Majeed syndrome, Autoinflammatory syndrome, Majeed syndrome
Health Risk
RS148607670
Conflicting classifications of pathogenicity
Majeed syndrome, Autoinflammatory syndrome, Majeed syndrome
Health Risk
RS149862905
Conflicting classifications of pathogenicity
Majeed syndrome, Autoinflammatory syndrome, LPIN2-related disorder
Health Risk
RS150312425
Conflicting classifications of pathogenicity
Majeed syndrome, Autoinflammatory syndrome, Majeed syndrome
Health Risk
RS150379164
Conflicting classifications of pathogenicity
Majeed syndrome, Majeed syndrome
Health Risk
All Variants (87)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS80338805 | Health Risk | Conflicting classifications of pathogenicity | Majeed syndrome, Autoinflammatory syndrome, LPIN2-related disorder |
| RS886053765 | Health Risk | Conflicting classifications of pathogenicity | Majeed syndrome, Majeed syndrome |
| RS1196587621 | Health Risk | Likely pathogenic | Majeed syndrome, Majeed syndrome |
| RS1449758984 | Health Risk | Likely pathogenic | Majeed syndrome, Majeed syndrome |
| RS1598522408 | Health Risk | Likely pathogenic | Majeed syndrome, Majeed syndrome |
| RS2077209051 | Health Risk | Likely pathogenic | Majeed syndrome, Majeed syndrome |
| RS2143137428 | Health Risk | Likely pathogenic | Majeed syndrome, Majeed syndrome |
| RS2144112758 | Health Risk | Likely pathogenic | Majeed syndrome, Majeed syndrome |
| RS2144204081 | Health Risk | Likely pathogenic | Majeed syndrome, Majeed syndrome |
| RS2510246095 | Health Risk | Likely pathogenic | Majeed syndrome, Majeed syndrome |
| RS2510266165 | Health Risk | Likely pathogenic | Majeed syndrome, Majeed syndrome |
| RS2510266170 | Health Risk | Likely pathogenic | Majeed syndrome, Majeed syndrome |
| RS756109661 | Health Risk | Likely pathogenic | Majeed syndrome, Majeed syndrome |
| RS1175109245 | Health Risk | Pathogenic | — |
| RS1317098432 | Health Risk | Pathogenic | Majeed syndrome, Majeed syndrome |
| RS2077113045 | Health Risk | Pathogenic | Majeed syndrome, Majeed syndrome |
| RS2077310320 | Health Risk | Pathogenic | Majeed syndrome, Majeed syndrome |
| RS2144112462 | Health Risk | Pathogenic | Majeed syndrome, Majeed syndrome |
| RS2144133234 | Health Risk | Pathogenic | Majeed syndrome, Majeed syndrome |
| RS2144133348 | Health Risk | Pathogenic | Majeed syndrome, Majeed syndrome |
| RS2144194297 | Health Risk | Pathogenic | Majeed syndrome, Majeed syndrome |
| RS2144209550 | Health Risk | Pathogenic | Majeed syndrome, Majeed syndrome |
| RS2510249341 | Health Risk | Pathogenic | Majeed syndrome, Majeed syndrome |
| RS2510249351 | Health Risk | Pathogenic | Majeed syndrome, Majeed syndrome |
| RS2510267437 | Health Risk | Pathogenic | Majeed syndrome, Majeed syndrome |
| RS2510282875 | Health Risk | Pathogenic | Majeed syndrome, Majeed syndrome |
| RS762442011 | Health Risk | Pathogenic | Majeed syndrome, LPIN2-related disorder, Majeed syndrome |
| RS771295943 | Health Risk | Pathogenic | Majeed syndrome, Majeed syndrome |
| RS80338806 | Health Risk | Pathogenic | Majeed syndrome, Majeed syndrome |
| RS80338808 | Health Risk | Pathogenic | Majeed syndrome, Majeed syndrome |
| RS876660982 | Health Risk | Pathogenic | Majeed syndrome, Majeed syndrome |
| RS916009547 | Health Risk | Pathogenic | Majeed syndrome, Majeed syndrome |
| RS750126005 | Health Risk | Pathogenic/Likely pathogenic | Majeed syndrome, Majeed syndrome |
| RS756933588 | Health Risk | Pathogenic/Likely pathogenic | Majeed syndrome, Majeed syndrome |
| RS759667494 | Health Risk | Pathogenic/Likely pathogenic | Majeed syndrome, Majeed syndrome |
| RS779553737 | Health Risk | Pathogenic/Likely pathogenic | Autoinflammatory syndrome, Majeed syndrome, Autoinflammatory syndrome |
| RS80338807 | Health Risk | Pathogenic/Likely pathogenic | Majeed syndrome, Autoinflammatory syndrome, Majeed syndrome |