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
371035562024No association of NAFLD-related polymorphisms in PNPLA3 and TM6SF2 with all-cause and cardiovascular mortality in an Austrian population study.0
376251512024Impact of PNPLA3 I148M on alpha-1 antitrypsin deficiency-dependent liver disease progression.0
380838812024Association of liver fibrosis with extrahepatic cancer in steatotic liver disease patients with PNPLA3 I148M GG genotype.3
381107192024PNPLA3-associated mitochondrial dysfunction.0
381128412024Parental History of Type 2 Diabetes Mellitus and PNPLA3 Polymorphism Increase the Risk of Severe Stages of Nonalcoholic Fatty Liver Disease.1
381457252024Age, BMI, and Type 2 Diabetes Modify the Relationship Between PNPLA3 and Advanced Fibrosis in Children and Adults With NAFLD.1
384587492024PNPLA3 fatty liver allele was fixed in Neanderthals and segregates neutrally in humans.1
385634322024Activin A levels in metabolic dysfunction-associated steatotic liver disease associates with fibrosis and the PNPLA3 I148M variant.0
386570502024The fatty liver disease-causing protein PNPLA3-I148M alters lipid droplet-Golgi dynamics.2
386749292024The Role of PNPLA3_rs738409 Gene Variant, Lifestyle Factors, and Bioactive Compounds in Nonalcoholic Fatty Liver Disease: A Population-Based and Molecular Approach towards Healthy Nutrition.0
371035562024No association of NAFLD-related polymorphisms in PNPLA3 and TM6SF2 with all-cause and cardiovascular mortality in an Austrian population study.0
376251512024Impact of PNPLA3 I148M on alpha-1 antitrypsin deficiency-dependent liver disease progression.0
380838812024Association of liver fibrosis with extrahepatic cancer in steatotic liver disease patients with PNPLA3 I148M GG genotype.3
381107192024PNPLA3-associated mitochondrial dysfunction.0
381128412024Parental History of Type 2 Diabetes Mellitus and PNPLA3 Polymorphism Increase the Risk of Severe Stages of Nonalcoholic Fatty Liver Disease.1

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