Seroatlas · Human Serome Atlas

PNPLA2

Patatin-like phospholipase domain-containing protein 2

Also known as: ATGL, desnutrin, FP17548, iPLA2zeta, PLPL2_HUMAN, TTS-2.2

Cross-references: UniProt · Ensembl · Human Protein Atlas · GeneCards · NCBI Gene

Protein identityUniProt · HPA

UniProt accession
Q96AD5
Gene
PNPLA2
Ensembl
ENSG00000177666
Chromosome
11
Canonical length
504 aa
Protein class
Disease related genes, Enzymes, Human disease related genes, Metabolic proteins, Potential drug targets, Predicted intracellular proteins
Subcellular location
Nucleoplasm,Lipid droplets

OverviewNCBI Gene

This gene encodes an enzyme which catalyzes the first step in the hydrolysis of triglycerides in adipose tissue. Mutations in this gene are associated with neutral lipid storage disease with myopathy. [provided by RefSeq, Jul 2010]

Canonical amino-acid sequenceUniProt

504 residues, UniProt reviewed canonical sequence.

>Q96AD5|PNPLA2
     1  MFPREKTWNI SFAGCGFLGV YYVGVASCLR EHAPFLVANA THIYGASAGA LTATALVTGV
    61  CLGEAGAKFI EVSKEARKRF LGPLHPSFNL VKIIRSFLLK VLPADSHEHA SGRLGISLTR
   121  VSDGENVIIS HFNSKDELIQ ANVCSGFIPV YCGLIPPSLQ GVRYVDGGIS DNLPLYELKN
   181  TITVSPFSGE SDICPQDSST NIHELRVTNT SIQFNLRNLY RLSKALFPPE PLVLREMCKQ
   241  GYRDGLRFLQ RNGLLNRPNP LLALPPARPH GPEDKDQAVE SAQAEDYSQL PGEDHILEHL
   301  PARLNEALLE ACVEPTDLLT TLSNMLPVRL ATAMMVPYTL PLESALSFTI RLLEWLPDVP
   361  EDIRWMKEQT GSICQYLVMR AKRKLGRHLP SRLPEQVELR RVQSLPSVPL SCAAYREALP
   421  GWMRNNLSLG DALAKWEECQ RQLLLGLFCT NVAFPPEALR MRAPADPAPA PADPASPQHQ
   481  LAGPAPLLST PAPEARPVIG ALGL

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against PNPLA2 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
Cell surface
Secreted
No
Transmembrane segments
4
Mean surface accessibility (rSASA)
0.39
Highest tissue expression
487 nTPM

Expression across tissuesHPA

Tissue

  • adipose tissue: 487 nTPM
  • breast: 357 nTPM
  • skeletal muscle: 188 nTPM
  • heart muscle: 164 nTPM
  • blood vessel: 135 nTPM
  • salivary gland: 79 nTPM

Single-cell type

  • adipocytes: 370 nCPM
  • syncytiotrophoblasts: 216 nCPM
  • prostatic club cells: 180 nCPM
  • esophageal apical cells: 173 nCPM
  • enterocytes: 171 nCPM
  • urothelial cells: 161 nCPM

Immune cell

  • eosinophil: 22 nTPM
  • basophil: 12 nTPM
  • classical monocyte: 9.5 nTPM
  • neutrophil: 8.2 nTPM
  • non-classical monocyte: 7.2 nTPM
  • plasmacytoid DC: 7 nTPM

Brain region

  • medulla oblongata: 48 nTPM
  • pons: 46 nTPM
  • white matter: 43 nTPM
  • hypothalamus: 41 nTPM
  • basal ganglia: 40 nTPM
  • cerebellum: 40 nTPM

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about PNPLA2.

Disease | AllUniProt

Conditions PNPLA2 is implicated in, by any mechanism.

  • Neutral lipid storage disease with myopathy (NLSDM) MIM:610717

Disease | GeneticClinVar

40 pathogenic / likely-pathogenic of 694 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

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)
0.74
gnomAD pLI
0
gnomAD missense Z
-0.01
DepMap mean gene effect
0.04
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

Molecular functions

Cellular components

Protein domainsUniProt · Pfam · InterPro

KeywordsUniProt

InteractionsUniProt · HPA

Protein binding partners of PNPLA2 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 PNPLA2 as an antibody target. Whether an autoantibody or antibody against PNPLA2 could matter depends on whether native PNPLA2 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.

PNPLA2 is annotated at the cell surface, where native PNPLA2 is exposed to circulating antibodies and is a prime autoantibody target that could block, deplete, or overstimulate it.

Annotation status

The present source text does not explicitly label PNPLA2 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.

Canonical record: https://seroatlas.com/gene/PNPLA2. Study-independent annotations aggregated from UniProt, Human Protein Atlas, PubMed, IEDB, Pfam, InterPro, Gene Ontology, AlphaFold, gnomAD, DepMap, ClinVar, TCGA. Catalog release seroatlas-reviewed-human-uniprot-20260313.

Seroatlas is the reference for exploring autoantibody and antibody serology at the human-protein level: the autoreactome and human serome, multiplex serology (HuProt, HuScan, VirScan, PhIP-Seq).

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