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 11 - 20 of 213 in total
DO ID Disease Name Source
DOID:0050819 obsolete Matthew-Wood syndrome
DOID:0060158 acquired metabolic disease
DOID:0060318 acute promyelocytic leukemia
DOID:0060357 chylomicron retention disease
DOID:0060656 autosomal recessive congenital ichthyosis 1
DOID:0080001 bone disease
DOID:0080199 colorectal carcinoma
DOID:0080348 Alzheimer's disease 1
DOID:0080365 endometrial hyperplasia
DOID:0110035 Alzheimer's disease 2
The Human Phenotype Ontology
Displaying entries 31 - 40 of 64 in total
HPO ID HPO Term
HP:0002380 Fasciculations
HP:0002910 Elevated circulating hepatic transaminase concentration
HP:0003077 Hyperlipidemia
HP:0003198 Myopathy
HP:0003236 Elevated circulating creatine kinase concentration
HP:0003326 Myalgia
HP:0003388 Easy fatigability
HP:0003391 Gowers sign
HP:0003546 Exercise intolerance
HP:0003547 Shoulder girdle muscle weakness
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