LPIN2 Gene
Lipin 2: A Phosphatidate Phosphatase Involved in Lipid Metabolism and Inflammatory Disorders
Gene Information Card
| Symbol | LPIN2 |
|---|---|
| Full Name | Lipin 2 |
| Gene Type | Protein coding |
| Chromosomal Location | 18p11.31 |
| NCBI Gene ID | 9663 ncbi.nlm.nih.gov/gene/9663 |
| Ensembl ID | ENSG00000101557 |
| UniProt ID | Q92539 |
| OMIM ID | 605519 |
| HGNC ID | 14450 |
| Aliases | KIAA0249, PAP2, LPIN2_HUMAN |
Description
The LPIN2 gene encodes lipin 2, a magnesium-dependent phosphatidate phosphatase (PAP) enzyme that catalyzes the dephosphorylation of phosphatidate to diacylglycerol, a critical step in triacylglycerol and phospholipid biosynthesis. Lipin 2 also functions as a transcriptional coactivator, regulating lipid metabolism and inflammatory responses. Mutations in LPIN2 cause Majeed syndrome, an autosomal recessive disorder characterized by chronic recurrent multifocal osteomyelitis (CRMO) and congenital dyserythropoietic anemia (CDA).
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Majeed syndrome | Loss-of-function mutations in LPIN2 impair phosphatidate phosphatase activity, disrupting lipid metabolism and leading to chronic inflammation and bone lesions. | ClinVar, OMIM |
| Chronic recurrent multifocal osteomyelitis (CRMO) | LPIN2 mutations cause a monogenic form of CRMO, likely due to dysregulated lipid signaling and pro-inflammatory cytokine production. | OMIM, NCBI |
| Congenital dyserythropoietic anemia (CDA) | LPIN2 deficiency in erythroid precursors impairs membrane lipid synthesis, leading to ineffective erythropoiesis and anemia. | OMIM, ClinVar |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Adipose tissue | 10.2 | Medium |
| Liver | 8.5 | Medium |
| Bone marrow | 6.1 | Low |
| Spleen | 5.8 | Low |
| Small intestine | 4.3 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HepG2 | 7.9 | Hepatocellular carcinoma cell line |
| K562 | 6.5 | Chronic myelogenous leukemia cell line |
| THP-1 | 5.2 | Monocytic leukemia cell line |
| HeLa | 4.8 | Cervical adenocarcinoma cell line |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.232C>T (p.Arg78Ter) | Nonsense | Pathogenic | Loss of function; associated with Majeed syndrome |
| c.694C>T (p.Arg232Ter) | Nonsense | Pathogenic | Loss of function; associated with Majeed syndrome |
| c.1010G>A (p.Arg337Gln) | Missense | Pathogenic | Reduced phosphatase activity; associated with Majeed syndrome |
| c.1240C>T (p.Arg414Cys) | Missense | Uncertain significance | Potential impact on protein stability |
Mutation functional classification
Loss of Function (LOF)
Most LPIN2 mutations are loss-of-function, leading to reduced or absent phosphatidate phosphatase activity, which disrupts lipid metabolism and causes Majeed syndrome.
Gain of Function (GOF)
No gain-of-function mutations have been reported for LPIN2.
Dominant Negative (DN)
No dominant-negative mutations have been described for LPIN2.
View complete mutation data：
Gene Ontology (GO)
Pathways
• Glycerophospholipid biosynthesis
• Triacylglycerol biosynthesis
• Phosphatidate metabolism
Protein Summary
Lipin 2 is a 896-amino acid protein with a conserved N-terminal lipin domain and a C-terminal haloacid dehalogenase (HAD)-like phosphatase domain. It localizes to the cytoplasm, endoplasmic reticulum, and nucleus. As a phosphatidate phosphatase, it converts phosphatidate to diacylglycerol, a precursor for triacylglycerols and phospholipids. Lipin 2 also acts as a transcriptional coactivator, interacting with PPARGC1A to regulate lipid metabolism genes. Mutations causing loss of enzymatic activity lead to Majeed syndrome.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| LPIN2 Knockout HEK293 Cell Line | EDJ-KQ1174 | Human | 9663 | Details Get a Quote |
| LPIN2 Knockout A-549 Cell Line | EDJ-KQ20441 | Human | 9663 | Details Get a Quote |
| LPIN2 Knockout HCT 116 Cell Line | EDJ-KQ20442 | Human | 9663 | Details Get a Quote |
| LPIN2 Knockout HeLa Cell Line | EDJ-KQ20443 | Human | 9663 | Details Get a Quote |
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