LPIN2
Chr 18lipin 2
Also known as: CRMO1, MJDS
The protein acts as a magnesium-dependent phosphatidate phosphatase that converts phosphatidic acid to diacylglycerol during triglyceride and phospholipid biosynthesis, and also functions as a nuclear transcriptional coactivator modulating lipid metabolism. Mutations cause Majeed syndrome, an autosomal recessive disorder characterized by chronic recurrent multifocal osteomyelitis, congenital dyserythropoietic anemia, and neutrophilic dermatosis. The gene is highly constrained against loss-of-function variants (LOEUF 0.51), indicating that complete loss of protein function is likely not tolerated.
Primary Disease Associations & Inheritance
Definitive — sufficient evidence for diagnostic panels
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
More LoF-intolerant than ~75% of genes
Mild missense constraint
ClinVar Variant Classifications
500 submitted variants in ClinVar
Classification Summary
Curated Variants Distribution
Classified variants from ClinVar · 5 ACMG categories
| Classification | LoF | Missense + Inframe | Non-coding | Synonymous | Total |
|---|---|---|---|---|---|
Pathogenic | 6 | 0 | 36 | 0 | 42 |
Likely Pathogenic | 10 | 0 | 2 | 0 | 12 |
VUS | 0 | 159 | 27 | 6 | 192 |
Likely Benign | 0 | 1 | 102 | 99 | 202 |
Benign | 0 | 0 | 29 | 0 | 29 |
Conflicting | — | 10 | |||
| Total | 16 | 160 | 196 | 105 | 487 |
LoF = frameshift, stop gained/lost, canonical splice · Counts from ClinVar esearch · Updated hourly
View in ClinVar →Protein Context — Lollipop Plot
LPIN2 · protein map & ClinVar variants
Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.
External Resources
Links to major genomics databases and tools
Clinical Trials
Active and recruiting trials from ClinicalTrials.gov
No active trials found for this gene.
Search ClinicalTrials.gov →External Resources
Links to major genomics databases and tools