Seroatlas · Human Serome Atlas

PNPLA8

Calcium-independent phospholipase A2-gamma

Also known as: IPLA2-2, IPLA2G, iPLA2gamma, PLPL8_HUMAN

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

Protein identityUniProt · HPA

UniProt accession
Q9NP80
Gene
PNPLA8
Ensembl
ENSG00000135241
Chromosome
7
Canonical length
782 aa
Protein class
Disease related genes, Enzymes, Human disease related genes, Metabolic proteins, Potential drug targets, Predicted intracellular proteins, Predicted membrane proteins
Subcellular location
Nucleoplasm,Golgi apparatus,Cytosol

OverviewNCBI Gene

This gene encodes a member of the patatin-like phospholipase domain containing protein family. Members of this family are phospholipases which catalyze the cleavage of fatty acids from membrane phospholipids. The product of this gene is a calcium-independent phospholipase. Mutations in this gene have been associated with mitochondrial myopathy with lactic acidosis. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, May 2015]

Canonical amino-acid sequenceUniProt

782 residues, UniProt reviewed canonical sequence.

>Q9NP80|PNPLA8
     1  MSINLTVDIY IYLLSNARSV CGKQRSKQLY FLFSPKHYWR ISHISLQRGF HTNIIRCKWT
    61  KSEAHSCSKH CYSPSNHGLH IGILKLSTSA PKGLTKVNIC MSRIKSTLNS VSKAVFGNQN
   121  EMISRLAQFK PSSQILRKVS DSGWLKQKNI KQAIKSLKKY SDKSAEKSPF PEEKSHIIDK
   181  EEDIGKRSLF HYTSSITTKF GDSFYFLSNH INSYFKRKEK MSQQKENEHF RDKSELEDKK
   241  VEEGKLRSPD PGILAYKPGS ESVHTVDKPT SPSAIPDVLQ VSTKQSIANF LSRPTEGVQA
   301  LVGGYIGGLV PKLKYDSKSQ SEEQEEPAKT DQAVSKDRNA EEKKRLSLQR EKIIARVSID
   361  NRTRALVQAL RRTTDPKLCI TRVEELTFHL LEFPEGKGVA VKERIIPYLL RLRQIKDETL
   421  QAAVREILAL IGYVDPVKGR GIRILSIDGG GTRGVVALQT LRKLVELTQK PVHQLFDYIC
   481  GVSTGAILAF MLGLFHMPLD ECEELYRKLG SDVFSQNVIV GTVKMSWSHA FYDSQTWENI
   541  LKDRMGSALM IETARNPTCP KVAAVSTIVN RGITPKAFVF RNYGHFPGIN SHYLGGCQYK
   601  MWQAIRASSA APGYFAEYAL GNDLHQDGGL LLNNPSALAM HECKCLWPDV PLECIVSLGT
   661  GRYESDVRNT VTYTSLKTKL SNVINSATDT EEVHIMLDGL LPPDTYFRFN PVMCENIPLD
   721  ESRNEKLDQL QLEGLKYIER NEQKMKKVAK ILSQEKTTLQ KINDWIKLKT DMYEGLPFFS
   781  KL

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against PNPLA8 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
1
Mean surface accessibility (rSASA)
0.41
Highest tissue expression
78 nTPM

Expression across tissuesHPA

Tissue

  • bone marrow: 78 nTPM
  • adrenal gland: 45 nTPM
  • skeletal muscle: 33 nTPM
  • tongue: 33 nTPM
  • liver: 32 nTPM
  • amygdala: 29 nTPM

Single-cell type

  • neutrophils: 1,503 nCPM
  • endometrial glandular cells: 531 nCPM
  • monocytes: 516 nCPM
  • endometrial luminal cells: 394 nCPM
  • urothelial cells: 310 nCPM
  • epididymal clear cells: 255 nCPM

Immune cell

  • non-classical monocyte: 44 nTPM
  • intermediate monocyte: 33 nTPM
  • classical monocyte: 30 nTPM
  • myeloid DC: 29 nTPM
  • memory B-cell: 29 nTPM
  • naive B-cell: 27 nTPM

Brain region

  • cerebral cortex: 43 nTPM
  • hypothalamus: 42 nTPM
  • white matter: 40 nTPM
  • basal ganglia: 39 nTPM
  • spinal cord: 39 nTPM
  • hippocampal formation: 36 nTPM

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about PNPLA8.

Disease | AllUniProt

Conditions PNPLA8 is implicated in, by any mechanism.

  • Mitochondrial myopathy with lactic acidosis (MMLA) MIM:251950

Disease | GeneticClinVar

31 pathogenic / likely-pathogenic of 416 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)
0.51
gnomAD pLI
0.01
gnomAD missense Z
0.09
DepMap mean gene effect
-0.11
DepMap dependency class
selective

Cancer expressionTCGA

Across TCGA tumor cohorts, this protein is over-expressed in roughly 8% 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

Antibody and autoantibody relevanceSeroatlas analysis

Seroatlas reads PNPLA8 as an antibody target. Whether an autoantibody or antibody against PNPLA8 could matter depends on whether native PNPLA8 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.

PNPLA8 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 PNPLA8 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.

Canonical record: https://seroatlas.com/gene/PNPLA8. 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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