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GeneE
10 sources retrieved Β· Most recent: April 2026 Β· Index updated 14 days ago
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AGPAT2
1-acylglycerol-3-phosphate O-acyltransferase 2
Chromosome 9 Β· 9q34.3
NCBI Gene: 10555Ensembl: ENSG00000169692.15HGNC: HGNC:325UniProt: A0A024R8F9
60PubMed Papers
21Diseases
0Drugs
33Pathogenic Variants
CLINICAL
OMIM Disease Gene
DATA QUALITY
βœ“ Experimental GO Evidenceβœ“ Swiss-Prot Reviewed
1-acylglycerol-3-phosphate O-acyltransferase activityphosphatidic acid biosynthetic processpositive regulation of cytokine productionendoplasmic reticulumBerardinelli-Seip congenital lipodystrophycongenital generalized lipodystrophylipodystrophygenetic disorder
✦AI Summary

AGPAT2 encodes 1-acylglycerol-3-phosphate O-acyltransferase 2, a critical enzyme catalyzing the conversion of lysophosphatidic acid (LPA) to phosphatidic acid (PA) at the sn-2 position of the glycerol backbone 1. This reaction is essential for triglyceride and phospholipid synthesis via the glycerol-3-phosphate pathway 2. AGPAT2 is uniquely required for adipocyte development and maturation among AGPAT isoforms 1. Beyond canonical lipid synthesis, AGPAT2-generated PA drives endoplasmic reticulum tubulation through direct interaction with the dynamin-related GTPase DRP1, independent of DRP1's canonical mitochondrial division function 3. Pathogenic AGPAT2 variants cause Congenital Generalized Lipodystrophy type 1 (CGL1), characterized by absent fatty tissue from birth 1. CGL1 patients develop severe metabolic complications including hypoleptinemia, hypoadiponectinemia, hyperglycemia, and hypertriglyceridemia 1. AGPAT2 deficiency is also associated with neonatal diabetes mellitus in some patients 4. Animal models show AGPAT2 deficiency exacerbates hyperlipidemia, hepatic steatosis, and atherosclerosis progression 5. Loss-of-function mutations typically reduce AGPAT2 protein stability rather than affecting mRNA levels, suggesting post-translational degradation mechanisms 6.

Sources cited
1
AGPAT2 is critical enzyme converting LPA to PA; essential for adipocyte development; defects cause CGL1 with hypoleptinemia, hypoadiponectinemia, hyperglycemia, hypertriglyceridemia
PMID: 40508223
2
AGPAT2 catalyzes acylation of LPA to form PA in glycerol-3-phosphate pathway; interacts with CDP-diacylglycerol synthases; AGPAT2 is only isoform whose mutations cause severe CGL
PMID: 34824276
3
AGPAT2-generated PA drives ER tubulation by supplying PA to DRP1; DRP1-mediated ER morphogenesis independent of GTP hydrolysis
PMID: 41387688
4
AGPAT2 mutations identified as cause of neonatal diabetes mellitus in some patients
PMID: 39344692
5
AGPAT2 deficiency aggravates hyperlipidemia, hepatic steatosis, and atherosclerosis in mouse models
PMID: 37591406
6
Loss-of-function AGPAT2 mutations produce reduced protein levels despite normal mRNA; impair adipocyte differentiation
PMID: 23430550
Disease Associationsβ“˜21
Berardinelli-Seip congenital lipodystrophyOpen Targets
0.75Strong
congenital generalized lipodystrophyOpen Targets
0.55Moderate
lipodystrophyOpen Targets
0.46Moderate
genetic disorderOpen Targets
0.19Weak
monogenic diabetesOpen Targets
0.18Weak
Familial prostate cancerOpen Targets
0.11Weak
prostate cancerOpen Targets
0.11Weak
drug allergyOpen Targets
0.07Suggestive
Generalized congenital lipodystrophy with myopathyOpen Targets
0.05Suggestive
familial partial lipodystrophy, Kobberling typeOpen Targets
0.05Suggestive
Familial partial lipodystrophy, KΓΆbberling typeOpen Targets
0.05Suggestive
PPARG-related familial partial lipodystrophyOpen Targets
0.05Suggestive
CIDEC-related familial partial lipodystrophyOpen Targets
0.05Suggestive
lipodystrophy, congenital generalized, type 5Open Targets
0.05Suggestive
LIPE-related familial partial lipodystrophyOpen Targets
0.05Suggestive
PLIN1-related familial partial lipodystrophyOpen Targets
0.05Suggestive
congenital generalized lipodystrophy type 3Open Targets
0.05Suggestive
multiple symmetric lipomatosisOpen Targets
0.05Suggestive
mandibuloacral dysplasia with type A lipodystrophyOpen Targets
0.05Suggestive
familial partial lipodystrophy, Dunnigan typeOpen Targets
0.05Suggestive
Lipodystrophy, congenital generalized, 1UniProt
Pathogenic Variants33
NM_006412.4(AGPAT2):c.493-1G>CPathogenic
Congenital generalized lipodystrophy type 1|Thyroid cancer, nonmedullary, 1
β˜…β˜…β˜†β˜†2026
NM_006412.4(AGPAT2):c.646A>T (p.Lys216Ter)Pathogenic
Congenital generalized lipodystrophy type 1|not provided|Malignant tumor of urinary bladder|AGPAT2-related disorder
β˜…β˜…β˜†β˜†2026β†’ Residue 216
NM_006412.4(AGPAT2):c.492+1G>APathogenic
Congenital generalized lipodystrophy type 1|not provided
β˜…β˜…β˜†β˜†2025
NM_006412.4(AGPAT2):c.369_372del (p.Leu124fs)Pathogenic
not provided|Congenital generalized lipodystrophy type 1
β˜…β˜…β˜†β˜†2024β†’ Residue 124
NM_006412.4(AGPAT2):c.589-2A>GPathogenic
Congenital generalized lipodystrophy type 1|not provided|Congenital generalized lipodystrophy
β˜…β˜…β˜†β˜†2024
NM_006412.4(AGPAT2):c.377dup (p.Pro128fs)Pathogenic
Congenital generalized lipodystrophy type 1|not provided
β˜…β˜…β˜†β˜†2024β†’ Residue 128
NM_006412.4(AGPAT2):c.656_660del (p.Thr219fs)Likely pathogenic
AGPAT2-related disorder|not provided
β˜…β˜…β˜†β˜†2024β†’ Residue 219
NM_006412.4(AGPAT2):c.335del (p.Pro112fs)Pathogenic
Congenital generalized lipodystrophy type 1|not provided
β˜…β˜…β˜†β˜†2024β†’ Residue 112
NM_006412.4(AGPAT2):c.662-2A>CPathogenic
not provided|Congenital generalized lipodystrophy type 1
β˜…β˜…β˜†β˜†2024
NM_006412.4(AGPAT2):c.202C>T (p.Arg68Ter)Pathogenic
Congenital generalized lipodystrophy type 1|not provided
β˜…β˜…β˜†β˜†2023β†’ Residue 68
NM_006412.4(AGPAT2):c.514G>A (p.Glu172Lys)Pathogenic
Congenital generalized lipodystrophy type 1|not provided
β˜…β˜…β˜†β˜†2021β†’ Residue 172
NM_006412.4(AGPAT2):c.493-2A>GLikely pathogenic
Congenital generalized lipodystrophy type 1
β˜…β˜…β˜†β˜†2021
NM_006412.4(AGPAT2):c.769del (p.Leu257fs)Likely pathogenic
Congenital generalized lipodystrophy type 1
β˜…β˜†β˜†β˜†2024β†’ Residue 257
NM_006412.4(AGPAT2):c.530_537dup (p.Asp180fs)Pathogenic
Congenital generalized lipodystrophy type 1
β˜…β˜†β˜†β˜†2024β†’ Residue 180
NM_006412.4(AGPAT2):c.158del (p.Gly53fs)Likely pathogenic
Congenital generalized lipodystrophy type 1
β˜…β˜†β˜†β˜†2024β†’ Residue 53
NM_006412.4(AGPAT2):c.242_245del (p.Arg81fs)Likely pathogenic
Congenital generalized lipodystrophy type 1
β˜…β˜†β˜†β˜†2024β†’ Residue 81
NM_006412.4(AGPAT2):c.34del (p.Leu12fs)Likely pathogenic
Congenital generalized lipodystrophy type 1
β˜…β˜†β˜†β˜†2024β†’ Residue 12
NM_006412.4(AGPAT2):c.335C>T (p.Pro112Leu)Likely pathogenic
Congenital generalized lipodystrophy type 1|not provided
β˜…β˜†β˜†β˜†2023β†’ Residue 112
NM_006412.4(AGPAT2):c.38T>A (p.Leu13Ter)Pathogenic
Congenital generalized lipodystrophy type 1
β˜…β˜†β˜†β˜†2022β†’ Residue 13
NM_006412.4(AGPAT2):c.685G>T (p.Glu229Ter)Likely pathogenic
Congenital generalized lipodystrophy type 1
β˜…β˜†β˜†β˜†2020β†’ Residue 229
View on ClinVar β†—
Related Genes
CAVIN1Protein interaction100%LMNAProtein interaction99%ZMPSTE24Protein interaction99%PLPP4Protein interaction95%PLPP5Protein interaction95%AGKProtein interaction91%
Tissue Expression6 tissues
Liver
100%
Lung
21%
Heart
15%
Bone Marrow
7%
Ovary
5%
Brain
3%
Gene Interaction Network
Click a node to explore
AGPAT2CAVIN1LMNAZMPSTE24PLPP4PLPP5AGK
PROTEIN STRUCTURE
Preparing viewer…
AlphaFoldAI-predicted Β· UniProt O15120
View on AlphaFold β†—
Constraintβ“˜
LOEUFβ“˜
1.20LoF Tolerant
pLIβ“˜
0.00Tolerant
Observed/Expected LoF0.81 [0.56–1.20]
RankingsWhere AGPAT2 stands among ~20K protein-coding genes
  • #7,628of 20,598
    Most Researched60
  • #1,728of 5,498
    Most Pathogenic Variants33
  • #12,598of 17,882
    Most Constrained (LOEUF)1.20
Genes detectedAGPAT2
Sources retrieved10 papers
Response timeβ€”
πŸ“„ Sources
10β–Ό
1
Neonatal diabetes mellitus around the world: Update 2024.
PMID: 39344692
J Diabetes Investig Β· 2024
1.00
2
The Role of the
PMID: 40508223
Int J Mol Sci Β· 2025
0.90
3
AGPAT2 interaction with CDP-diacylglycerol synthases promotes the flux of fatty acids through the CDP-diacylglycerol pathway.
PMID: 34824276
Nat Commun Β· 2021
0.80
4
Lipodystrophic gene Agpat2 deficiency aggravates hyperlipidemia and atherosclerosis in Ldlr
PMID: 37591406
Biochim Biophys Acta Mol Basis Dis Β· 2024
0.70
5
Berardinelli-Seip syndrome.
PMID: 41841805
Endokrynol Pol Β· 2026
0.60