PNPLA3 (patatin like phospholipase domain containing 3)

2011-05-01  

Identity

HGNC
PNPLA3
LOCATION
22q13.31
LOCUSID
80339
ALIAS
ADPN,C22orf20,iPLA(2)epsilon

Other Information

Locus ID:

NCBI: 80339
MIM: 609567
HGNC: 18590
Ensembl: ENSG00000100344

Variants:

dbSNP: 80339
ClinVar: 80339
TCGA: ENSG00000100344
COSMIC: PNPLA3

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000100344ENST00000216180Q9NST1
ENSG00000100344ENST00000406117F8W8E5
ENSG00000100344ENST00000423180Q9NST1

Expression (GTEx)

0
5
10
15
20
Adipose - Subcutaneous
Adipose - Visceral
Adrenal Gland
Artery - Aorta
Artery - Tibial
Bladder
Brain - Amygdala
Brain - Anterior cingulate cortex
Brain - Caudate
Brain - Cerebellar Hemisphere
Brain - Cerebellum
Brain - Cortex
Brain - Frontal Cortex
Brain - Hippocampus
Brain - Hypothalamus
Brain - Nucleus accumbens
Brain - Putamen
Brain - Spinal cord
Brain - Substantia nigra
Breast - Mammary Tissue
Cells - Cultured fibroblasts
Cells - EBV - transformed lymphocytes
Cervix - Ectocervix
Cervix - Endocervix
Colon - Sigmoid
Colon - Transverse
Esophagus - Gastroesophageal Junction
Esophagus - Mucosa
Esophagus - Muscularis
Fallopian Tube
Heart - Atrial Appendage
Heart - Left Ventricle
Kidney - Cortex
Kidney - Medulla
Liver
Lung
Minor Salivary Gland
Muscle - Skeletal
Nerve - Tibial
Ovary
Pancreas
Pituitary
Prostate
Skin - Not Sun Exposed
Skin - Sun Exposed
Small Intestine - Terminal Ileum
Spleen
Stomach
Testis
Thyroid
Uterus
Vagina
Whole Blood

Pathways

PathwaySourceExternal ID
Glycerolipid metabolismKEGGko00561
Glycerolipid metabolismKEGGhsa00561
Metabolic pathwaysKEGGhsa01100
Acylglycerol degradationKEGGhsa_M00098
Acylglycerol degradationKEGGM00098
MetabolismREACTOMER-HSA-1430728
Metabolism of lipids and lipoproteinsREACTOMER-HSA-556833
Phospholipid metabolismREACTOMER-HSA-1483257
Glycerophospholipid biosynthesisREACTOMER-HSA-1483206
Acyl chain remodeling of DAG and TAGREACTOMER-HSA-1482883

Protein levels (Protein atlas)

Not detected
Low
Medium
High
cerebral cortex
cerebellum
hippocampus
caudate
thyroid gland
parathyroid gland
adrenal gland
nasopharynx
bronchus
lung
oral mucosa
salivary gland
esophagus
stomach 1
stomach 2
duodenum
small intestine
colon
rectum
liver
gallbladder
pancreas
kidney
urinary bladder
testis
epididymis
seminal vesicle
prostate
vagina
ovary
fallopian tube
endometrium 1
endometrium 2
cervix, uterine
placenta
breast
heart muscle
smooth muscle
skeletal muscle
soft tissue 1
soft tissue 2
skin 1
skin 2
appendix
spleen
lymph node
tonsil
bone marrow

PharmGKB

Entity IDNameTypeEvidenceAssociationPKPDPMIDs
PA164925725Toxic liver diseaseDiseaseVariantAnnotationassociatedPD28744905
PA443309AlcoholismDiseaseClinicalAnnotation, VariantAnnotationassociatedPD30132178
PA446155Precursor Cell Lymphoblastic Leukemia-LymphomaDiseaseClinicalAnnotation, VariantAnnotationassociatedPD28744905
PA448073ethanolChemicalClinicalAnnotation, VariantAnnotationassociatedPD30132178
PA448492asparaginaseChemicalClinicalAnnotation, VariantAnnotationassociatedPD28744905
PA449165cyclophosphamideChemicalClinicalAnnotation, VariantAnnotationassociatedPD28744905
PA449212daunorubicinChemicalClinicalAnnotation, VariantAnnotationassociatedPD28744905
PA451096prednisoloneChemicalClinicalAnnotation, VariantAnnotationassociatedPD28744905
PA451879vincristineChemicalClinicalAnnotation, VariantAnnotationassociatedPD28744905

References

Pubmed IDYearTitleCitations
188206472008Genetic variation in PNPLA3 confers susceptibility to nonalcoholic fatty liver disease.701
188206472008Genetic variation in PNPLA3 confers susceptibility to nonalcoholic fatty liver disease.701
153649292004Identification, cloning, expression, and purification of three novel human calcium-independent phospholipase A2 family members possessing triacylglycerol lipase and acylglycerol transacylase activities.261
213810682011Meta-analysis of the influence of I148M variant of patatin-like phospholipase domain containing 3 gene (PNPLA3) on the susceptibility and histological severity of nonalcoholic fatty liver disease.225
200349332010A sequence variation (I148M) in PNPLA3 associated with nonalcoholic fatty liver disease disrupts triglyceride hydrolysis.176
203733682010Homozygosity for the patatin-like phospholipase-3/adiponutrin I148M polymorphism influences liver fibrosis in patients with nonalcoholic fatty liver disease.153
203733682010Homozygosity for the patatin-like phospholipase-3/adiponutrin I148M polymorphism influences liver fibrosis in patients with nonalcoholic fatty liver disease.153
189403122008Population-based genome-wide association studies reveal six loci influencing plasma levels of liver enzymes.150
195245792009Prediction of non-alcoholic fatty liver disease and liver fat using metabolic and genetic factors.138
195245792009Prediction of non-alcoholic fatty liver disease and liver fat using metabolic and genetic factors.138

Citation

Dessen P

PNPLA3 (patatin like phospholipase domain containing 3)

Atlas Genet Cytogenet Oncol Haematol. 2011-05-01

Online version: http://atlasgeneticsoncology.org/gene/43085/pnpla3