AGPAT2
1-acyl-sn-glycerol-3-phosphate acyltransferase beta
Also known as: BSCL, LPAAT-beta, LPLAT2, PLCB_HUMAN
Cross-references: UniProt · Ensembl · Human Protein Atlas · GeneCards · NCBI Gene
Protein identityUniProt · HPA
- UniProt accession
- O15120
- Gene
- AGPAT2
- Ensembl
- ENSG00000169692
- Chromosome
- 9
- Canonical length
- 278 aa
- Protein class
- Disease related genes, Enzymes, Human disease related genes, Metabolic proteins, Potential drug targets, Predicted membrane proteins
OverviewNCBI Gene
This gene encodes a member of the 1-acylglycerol-3-phosphate O-acyltransferase family. The protein is located within the endoplasmic reticulum membrane and converts lysophosphatidic acid to phosphatidic acid, the second step in de novo phospholipid biosynthesis. Mutations in this gene have been associated with congenital generalized lipodystrophy (CGL), or Berardinelli-Seip syndrome, a disease characterized by a near absence of adipose tissue and severe insulin resistance. Alternate transcriptional splice variants, encoding different isoforms, have been characterized. [provided by RefSeq, Jul 2008]
Canonical amino-acid sequenceUniProt
278 residues, UniProt reviewed canonical sequence.
>O15120|AGPAT2
1 MELWPCLAAA LLLLLLLVQL SRAAEFYAKV ALYCALCFTV SAVASLVCLL RHGGRTVENM
61 SIIGWFVRSF KYFYGLRFEV RDPRRLQEAR PCVIVSNHQS ILDMMGLMEV LPERCVQIAK
121 RELLFLGPVG LIMYLGGVFF INRQRSSTAM TVMADLGERM VRENLKVWIY PEGTRNDNGD
181 LLPFKKGAFY LAVQAQVPIV PVVYSSFSSF YNTKKKFFTS GTVTVQVLEA IPTSGLTAAD
241 VPALVDTCHR AMRTTFLHIS KTPQENGATA GSGVQPAQLocalizationUniProt · AlphaFold · HPA
Whether an antibody against AGPAT2 can act on the native protein depends on physical access: surface and secreted proteins are reachable by circulating antibodies, intracellular proteins usually are not.
- Antibody reachability
- Other membrane
- Secreted
- No
- Transmembrane segments
- 2
- Mean surface accessibility (rSASA)
- 0.29
- Highest tissue expression
- 427 nTPM
Expression across tissuesHPA
Tissue
- liver: 427 nTPM
- adipose tissue: 349 nTPM
- breast: 251 nTPM
- pancreas: 124 nTPM
- small intestine: 113 nTPM
- duodenum: 105 nTPM
Single-cell type
- enterocytes: 1,291 nCPM
- esophageal apical cells: 1,017 nCPM
- colonocytes: 620 nCPM
- late spermatids: 596 nCPM
- alveolar cells type 2: 271 nCPM
- hepatocytes: 262 nCPM
Immune cell
- eosinophil: 112 nTPM
- classical monocyte: 89 nTPM
- intermediate monocyte: 84 nTPM
- non-classical monocyte: 76 nTPM
- plasmacytoid DC: 66 nTPM
- neutrophil: 61 nTPM
Brain region
- hypothalamus: 19 nTPM
- choroid plexus: 19 nTPM
- midbrain: 16 nTPM
- thalamus: 15 nTPM
- medulla oblongata: 15 nTPM
- spinal cord: 15 nTPM
DiseaseUniProt · ClinVar · IEDB · PubMed
Four sources answering four different questions about AGPAT2.
Disease | AllUniProt
Conditions AGPAT2 is implicated in, by any mechanism.
- Lipodystrophy, congenital generalized, 1 (CGL1) MIM:608594
Disease | GeneticClinVar
35 pathogenic / likely-pathogenic of 295 ClinVar records.
Conditions with pathogenic or likely-pathogenic variants.
- Congenital generalized lipodystrophy type 1
- Congenital generalized lipodystrophy
- AGPAT2-related disorder
- Thyroid cancer, nonmedullary, 1
- Malignant tumor of urinary bladder
Genetic constraint and essentialitygnomAD · DepMap
Does the body need this protein intact? Low LOEUF or a strong DepMap dependency means loss or blockade of the protein is likely to be felt.
- gnomAD LOEUF (loss-of-function intolerance)
- 1.54
- gnomAD pLI
- 0
- gnomAD missense Z
- -0.72
- DepMap mean gene effect
- -0.09
- DepMap dependency class
- selective
Cancer expressionTCGA
Across TCGA tumor cohorts, this protein is over-expressed in roughly 4% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).
OntologyGO
Biological processes
- CDP-diacylglycerol biosynthetic process
- epidermis development
- phosphatidic acid biosynthetic process
- phospholipid metabolic process
- positive regulation of cytokine production
- positive regulation of cytokine-mediated signaling pathway
- response to xenobiotic stimulus
- triglyceride biosynthetic process
Molecular functions
Cellular components
Protein domainsUniProt · Pfam · InterPro
KeywordsUniProt
InteractionsUniProt · HPA
Protein binding partners of AGPAT2 in the human serome: UniProt-annotated complex subunits plus reported interactors. Each links to its own Seroatlas record.
Antibody and autoantibody relevanceSeroatlas analysis
Seroatlas reads AGPAT2 as an antibody target. Whether an autoantibody or antibody against AGPAT2 could matter depends on whether native AGPAT2 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.
AGPAT2 is annotated as predominantly intracellular. Intracellular proteins are common autoantibody markers, becoming visible to the immune system after cell injury or altered processing, but are usually markers of disease rather than direct drivers.
Annotation status
The present source text does not explicitly label AGPAT2 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.
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