HomeAboutRankingsData Sources
Β© 2026 GeneE
🧬
GeneE
10 sources retrieved Β· Most recent: April 2026 Β· Index updated 14 days ago
β“˜GeneE is for informational purposes only. It is not a substitute for professional medical advice, diagnosis, or treatment.
LPIN2
lipin 2
Chromosome 18 Β· 18p11.31
NCBI Gene: 9663Ensembl: ENSG00000101577.12HGNC: HGNC:14450UniProt: Q92539
44PubMed Papers
21Diseases
0Drugs
47Pathogenic Variants
FUNCTIONAL ROLE
Transcription Factor
CLINICAL
OMIM Disease Gene
DATA QUALITY
βœ“ Experimental GO Evidenceβœ“ Swiss-Prot Reviewed
phosphatidate phosphatase activitylipid metabolic processfatty acid catabolic processtriglyceride biosynthetic processMajeed syndromecongenital dyserythropoietic anemiamicrocytic anemianeurodegenerative disease
✦AI Summary

LPIN2 encodes a magnesium-dependent phosphatidate phosphatase that catalyzes conversion of phosphatidic acid to diacylglycerol during triglyceride and glycerophospholipid biosynthesis in the endoplasmic reticulum 1. Beyond its enzymatic role, LPIN2 functions as a nuclear transcriptional coactivator modulating lipid metabolism [UniProt]. LPIN2 regulates antiviral responses through interferon-STAT1-dependent mechanisms, inhibiting viral replication and restricting NLRP3 inflammasome activation by reducing mitochondrial DNA release 2. Biallelic LPIN2 mutations cause Majeed syndrome, a rare autoinflammatory disorder characterized by chr18 recurrent sterile osteomyelitis and anemia 3. The inflammatory phenotype stems from enhanced monocyte caspase-1 activity, M2-like macrophage differentiation, and accelerated osteoclastogenesis through elevated osteoclastogenic mediator production and enhanced JNK/MAPK signaling 4. Notably, LPIN2 expression inversely correlates with COVID-19 disease severity 2, and LPIN2 mutations have been associated with pyoderma gangrenosum in immunodeficiency contexts 5. Unlike LPIN1, which causes childhood rhabdomyolysis, LPIN2 deficiency does not produce primary muscular manifestations 6. These findings establish LPIN2 as a critical regulator of lipid metabolism and innate immunity with therapeutic implications for autoinflammatory and infectious diseases.

Sources cited
1
LPIN2 regulates glycerophospholipid metabolism and phosphatidate phosphatase activity in triglyceride biosynthesis
PMID: 38894572
2
LPIN2 is regulated by interferon via STAT-1, inhibits viral replication, restricts NLRP3 inflammasome activation, and LPIN2 expression negatively correlates with COVID-19 severity
PMID: 37929625
3
Biallelic LPIN2 variants cause Majeed syndrome presenting with chronic recurrent sterile osteomyelitis and anemia
PMID: 37865862
4
LPIN2 deficiency drives M2-like macrophage differentiation and accelerated osteoclastogenesis through enhanced JNK/MAPK signaling and elevated osteoclastogenic mediators
PMID: 33314777
5
LPIN2 mutations are associated with pyoderma gangrenosum in inborn errors of immunity
PMID: 38951460
6
LPIN2 deficiency does not cause major muscular manifestations unlike LPIN1-related rhabdomyolysis
PMID: 22481384
Disease Associationsβ“˜21
Majeed syndromeOpen Targets
0.80Strong
congenital dyserythropoietic anemiaOpen Targets
0.46Moderate
microcytic anemiaOpen Targets
0.46Moderate
neurodegenerative diseaseOpen Targets
0.42Moderate
autoinflammatory syndromeOpen Targets
0.38Weak
polymyalgia rheumaticaOpen Targets
0.30Weak
hypopituitarismOpen Targets
0.30Weak
lung cancerOpen Targets
0.24Weak
genetic disorderOpen Targets
0.19Weak
chronic laryngitisOpen Targets
0.17Weak
chronic hepatitisOpen Targets
0.08Suggestive
peritonitisOpen Targets
0.06Suggestive
hemoglobin D diseaseOpen Targets
0.05Suggestive
spinocerebellar ataxia type 35Open Targets
0.05Suggestive
spinocerebellar ataxia type 15/16Open Targets
0.05Suggestive
X-linked sideroblastic anemia with ataxiaOpen Targets
0.05Suggestive
spinocerebellar ataxia type 12Open Targets
0.04Suggestive
spinocerebellar ataxia type 37Open Targets
0.04Suggestive
spastic ataxia 2Open Targets
0.04Suggestive
Ataxia - pancytopeniaOpen Targets
0.04Suggestive
Majeed syndromeUniProt
Pathogenic Variants47
NM_001375808.2(LPIN2):c.838C>T (p.Arg280Ter)Pathogenic
Majeed syndrome
β˜…β˜…β˜†β˜†2025β†’ Residue 280
NM_001375808.2(LPIN2):c.589C>T (p.Arg197Ter)Pathogenic
Majeed syndrome
β˜…β˜…β˜†β˜†2025β†’ Residue 197
NM_001375808.2(LPIN2):c.1269-2A>GLikely pathogenic
Majeed syndrome
β˜…β˜…β˜†β˜†2025
NM_001375808.2(LPIN2):c.698+1G>ALikely pathogenic
Majeed syndrome
β˜…β˜…β˜†β˜†2025
NM_001375808.2(LPIN2):c.1204_1205dup (p.Asp402fs)Pathogenic
Autoinflammatory syndrome|Majeed syndrome
β˜…β˜…β˜†β˜†2024β†’ Residue 402
NM_001375808.2(LPIN2):c.1550G>A (p.Arg517His)Pathogenic
not provided|Majeed syndrome
β˜…β˜…β˜†β˜†2024β†’ Residue 517
NM_001375808.2(LPIN2):c.2201C>T (p.Ser734Leu)Pathogenic
Majeed syndrome|not provided|Autoinflammatory syndrome
β˜…β˜…β˜†β˜†2024β†’ Residue 734
NM_001375808.2(LPIN2):c.469C>T (p.Arg157Ter)Pathogenic
Majeed syndrome
β˜…β˜…β˜†β˜†2023β†’ Residue 157
NM_001375808.2(LPIN2):c.132_135dup (p.Ser46fs)Pathogenic
not provided|Majeed syndrome
β˜…β˜…β˜†β˜†2022β†’ Residue 46
NC_000018.10:g.2921627_2921649delPathogenic
Majeed syndrome
β˜…β˜†β˜†β˜†2026
NM_001375808.2(LPIN2):c.1168+1G>CLikely pathogenic
Majeed syndrome
β˜…β˜†β˜†β˜†2026
NM_001375808.2(LPIN2):c.441del (p.Phe147fs)Pathogenic
Majeed syndrome
β˜…β˜†β˜†β˜†2025β†’ Residue 147
NM_001375808.2(LPIN2):c.776_777del (p.Glu259fs)Pathogenic
not provided
β˜…β˜†β˜†β˜†2025β†’ Residue 259
NM_001375808.2(LPIN2):c.540_541del (p.Thr180_Cys181insTer)Pathogenic
Majeed syndrome
β˜…β˜†β˜†β˜†2025β†’ Residue 180
NM_001375808.2(LPIN2):c.2125A>T (p.Lys709Ter)Pathogenic
Majeed syndrome
β˜…β˜†β˜†β˜†2025β†’ Residue 709
NM_001375808.2(LPIN2):c.1924_1928del (p.Ser642fs)Pathogenic
Majeed syndrome
β˜…β˜†β˜†β˜†2025β†’ Residue 642
NM_001375808.2(LPIN2):c.973_976del (p.Val325fs)Pathogenic
Majeed syndrome
β˜…β˜†β˜†β˜†2025β†’ Residue 325
NM_001375808.2(LPIN2):c.1794-2_1821delLikely pathogenic
Majeed syndrome
β˜…β˜†β˜†β˜†2025
NM_001375808.2(LPIN2):c.1975_1979del (p.Val658_Val659insTer)Pathogenic
Majeed syndrome
β˜…β˜†β˜†β˜†2025β†’ Residue 658
NM_001375808.2(LPIN2):c.1684C>T (p.Arg562Ter)Pathogenic
Majeed syndrome
β˜…β˜†β˜†β˜†2025β†’ Residue 562
View on ClinVar β†—
Related Genes
MBOAT2Protein interaction95%PLD2Protein interaction94%PLD1Protein interaction93%CHPT1Protein interaction93%PLPP5Protein interaction93%PLPP4Protein interaction93%
Tissue Expression6 tissues
Liver
100%
Bone Marrow
34%
Brain
32%
Lung
26%
Ovary
18%
Heart
14%
Gene Interaction Network
Click a node to explore
LPIN2MBOAT2PLD2PLD1CHPT1PLPP5PLPP4
PROTEIN STRUCTURE
Preparing viewer…
AlphaFoldAI-predicted Β· UniProt Q92539
View on AlphaFold β†—
Constraintβ“˜
LOEUFβ“˜
0.58Moderately Constrained
pLIβ“˜
0.00Tolerant
Observed/Expected LoF0.45 [0.36–0.58]
RankingsWhere LPIN2 stands among ~20K protein-coding genes
  • #9,613of 20,598
    Most Researched44
  • #1,390of 5,498
    Most Pathogenic Variants47
  • #3,903of 17,882
    Most Constrained (LOEUF)0.58 Β· top quartile
Genes detectedLPIN2
Sources retrieved10 papers
Response timeβ€”
πŸ“„ Sources
10β–Ό
1
Lipid Nanoparticle-Mediated Delivery of CRISPR-Cas9 Against Rubicon Ameliorates NAFLD by Modulating CD36 Along with Glycerophospholipid Metabolism.
PMID: 38894572
Adv Sci (Weinh) Β· 2024
1.00
2
PMID: 36877799
0.90
3
Lipin-2 regulates the antiviral and anti-inflammatory responses to interferon.
PMID: 37929625
EMBO Rep Β· 2023
0.80
4
LPIN2 -related Majeed syndrome: report of two Indian patients with novel variants in LPIN2 and review of literature.
PMID: 37865862
Clin Dysmorphol Β· 2024
0.70
5
Autoinflammatory bone disorders.
PMID: 17762617
Curr Opin Rheumatol Β· 2007
0.60