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 51 - 60 of 213 in total
DO ID Disease Name Source
DOID:0111135 congenital generalized lipodystrophy type 1
DOID:0111136 congenital generalized lipodystrophy type 2
DOID:0111137 congenital generalized lipodystrophy type 3
DOID:0111138 congenital generalized lipodystrophy type 4
DOID:0111338 isolated elevated serum creatine phosphokinase levels
DOID:0111412 exudative vitreoretinopathy 1
DOID:10003 sensorineural hearing loss
DOID:10283 prostate cancer
DOID:10286 prostate carcinoma
DOID:1029 familial periodic paralysis
The Human Phenotype Ontology
Displaying entries 21 - 30 of 64 in total
HPO ID HPO Term
HP:0001677 Coronary artery atherosclerosis
HP:0001681 Angina pectoris
HP:0001733 Pancreatitis
HP:0001744 Splenomegaly
HP:0001922 Vacuolated lymphocytes
HP:0001962 Palpitations
HP:0002094 Dyspnea
HP:0002155 Hypertriglyceridemia
HP:0002240 Hepatomegaly
HP:0002355 Difficulty walking
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