patatin like phospholipase domain containing 2

Summary
Gene Symbol
  • PNPLA2
Aliases
  • ATGL
  • FP17548
  • TTS-2.2
  • desnutrin
  • iPLA2zeta
Organism
Homo sapiens (human)
External Links
NCBI Gene
57104
HGNC
30802
KEGG Gene ID
hsa:57104
PubChem
57104
Alliance of Genome Resources
Annotation
Keyword
  • Alternative splicing
  • Cell membrane
  • Cytoplasm
  • Disease variant
  • Glycoprotein
  • Hydrolase
  • Isopeptide bond
  • Lipid degradation
  • Lipid droplet
  • Phosphoprotein
  • Reference proteome
  • Signal-anchor
  • Transmembrane helix
  • Ubl conjugation
Proteins
Displaying 1 entry
UniProt Protein Name
Q96AD5
  • Adipose triglyceride lipase
  • Calcium-independent phospholipase A2-zeta
  • Desnutrin
  • Pigment epithelium-derived factor receptor
  • TTS2.2
  • Transport-secretion protein 2
Gene Ontology (GO)
GO Hierarchy
Human Protein Atlas
ENSG00000177666

soft tissue soft tissue blood blood blood blood blood blood blood blood blood blood blood blood blood blood lymph node lymph node lymph node lymph node lymph node lymph node lymph node lymph node lymph node lymph node lymph node kidney kidney adrenal gland adrenal gland breast breast duodenum stomach small intestine colon rectum appendix esophagus eye eye salivary gland nasopharynx nasopharynx tongue tonsil tonsil tonsil hair skin adipose tissue adipose tissue adipose tissue spinal cord oral mucosa lung lung heart bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus liver pancreas thyroid gland parathyroid gland parathyroid gland parathyroid gland parathyroid gland parathyroid gland spleen gallbladder ductus deferens ductus deferens seminal vesicle seminal vesicle seminal vesicle seminal vesicle testis testis epididymis epididymis brain smooth muscle urinary bladder prostate bone marrow skeletal muscle skeletal muscle skeletal muscle skeletal muscle skeletal muscle thymus thymus cartilage sole of foot sole of foot soft tissue blood blood blood blood blood blood blood blood blood blood blood blood lymph node lymph node lymph node lymph node lymph node lymph node lymph node lymph node lymph node lymph node lymph node lactating breast lactating breast kidney kidney adrenal gland adrenal gland duodenum stomach small intestine colon rectum appendix esophagus eye eye salivary gland salivary gland salivary gland salivary gland salivary gland salivary gland nasopharynx tongue tonsil tonsil hair skin adipose tissue adipose tissue adipose tissue adipose tissue adipose tissue adipose tissue adipose tissue spinal cord oral mucosa lung lung heart bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus liver pancreas thyroid gland parathyroid gland parathyroid gland parathyroid gland parathyroid gland parathyroid gland spleen gallbladder brain skeletal muscle skeletal muscle skeletal muscle skeletal muscle skeletal muscle thymus thymus smooth muscle urinary bladder vagina ovary ovary fallopian tube fallopian tube endometrium placenta cervix cervix bone marrow cartilage sole of foot sole of foot olfactory region cerebral cortex cerebellum medulla pons midbrain pituitary gland hypothalamus amygdala thalamus choroid plexus choroid plexus corpus callosum basal ganglia substantia nigra dorsal raphe dorsal raphe dorsal raphe dorsal raphe dorsal raphe dorsal raphe caudate hippocampus retina retina

Tissue with high expression from Human Protein Atlas. Tissues that are highly expressed are highlighted.

KEGG BRITE Database
Orthology
K16816
Name
patatin-like phospholipase domain-containing protein 2 [EC:3.1.1.3]
References
Disease
Disease Ontology
Displaying entries 1 - 10 of 213 in total
DO ID Disease Name Source
DOID:0014667 disease of metabolism
DOID:0040085 bacterial sepsis
DOID:0050476 Barth syndrome
DOID:0050535 exudative vitreoretinopathy
DOID:0050572 cone-rod dystrophy
DOID:0050585 congenital generalized lipodystrophy
DOID:0050700 cardiomyopathy
DOID:0050729 Chanarin-Dorfman syndrome
DOID:0050742 nicotine dependence
DOID:0050782 Zollinger-Ellison syndrome
The Human Phenotype Ontology
Displaying entries 1 - 10 of 64 in total
HPO ID HPO Term
HP:0000007 Autosomal recessive inheritance
HP:0000252 Microcephaly
HP:0000365 Hearing impairment
HP:0000407 Sensorineural hearing impairment
HP:0000467 Neck muscle weakness
HP:0000478 Abnormality of the eye
HP:0000819 Diabetes mellitus
HP:0001082 Cholecystitis
HP:0001249 Intellectual disability
HP:0001252 Hypotonia
Displaying all 3 entries
Disease ID Disease Name
ORPHA:565612
  • triglyceride deposit cardiomyovasculopathy
OMIM:610717
  • neutral lipid storage myopathy
ORPHA:98908
  • neutral lipid storage myopathy
LIPID MAPS Gene / Proteome Database
LMPD ID
LMP006638
Gene Name
patatin-like phospholipase domain containing 2

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Acknowledgements

Supported by JST NBDC Grant Number JPMJND2204

Partly supported by NIH Common Fund Grant #1U01GM125267-01


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Last updated: August 19, 2024