Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
80339
Gene name Gene Name - the full gene name approved by the HGNC.
Patatin like domain 3, 1-acylglycerol-3-phosphate O-acyltransferase
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
PNPLA3
Synonyms (NCBI Gene) Gene synonyms aliases
ADPN, C22orf20, iPLA(2)epsilon
Chromosome Chromosome number
22
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
22q13.31
Summary Summary of gene provided in NCBI Entrez Gene.
The protein encoded by this gene is a triacylglycerol lipase that mediates triacylglycerol hydrolysis in adipocytes. The encoded protein, which appears to be membrane bound, may be involved in the balance of energy usage/storage in adipocytes. [provided b
SNPs SNP information provided by dbSNP.
SNP ID Visualize variation Clinical significance Consequence
rs738409 C>G,T Risk-factor, likely-benign, drug-response Coding sequence variant, missense variant, synonymous variant
miRNA miRNA information provided by mirtarbase database.
miRTarBase ID miRNA Experiments Reference
MIRT016844 hsa-miR-335-5p Microarray 18185580
MIRT686091 hsa-miR-4438 HITS-CLIP 23313552
MIRT686090 hsa-miR-4687-5p HITS-CLIP 23313552
MIRT686089 hsa-miR-6504-3p HITS-CLIP 23313552
MIRT686088 hsa-miR-130b-5p HITS-CLIP 23313552
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
GO ID Ontology Definition Evidence Reference
GO:0001676 Process Long-chain fatty acid metabolic process IDA 22560221
GO:0001676 Process Long-chain fatty acid metabolic process IEA
GO:0003841 Function 1-acylglycerol-3-phosphate O-acyltransferase activity IDA 22560221
GO:0003841 Function 1-acylglycerol-3-phosphate O-acyltransferase activity IEA
GO:0004465 Function Lipoprotein lipase activity TAS
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM HGNC e!Ensembl
609567 18590 ENSG00000100344
Protein
UniProt ID Q9NST1
Protein name 1-acylglycerol-3-phosphate O-acyltransferase PNPLA3 (EC 2.3.1.51) (Acylglycerol transacylase) (Adiponutrin) (ADPN) (Calcium-independent phospholipase A2-epsilon) (iPLA2-epsilon) (EC 3.1.1.4) (Lysophosphatidic acid acyltransferase) (Patatin-like phospholip
Protein function Specifically catalyzes coenzyme A (CoA)-dependent acylation of 1-acyl-sn-glycerol 3-phosphate (2-lysophosphatidic acid/LPA) to generate phosphatidic acid (PA), an important metabolic intermediate and precursor for both triglycerides and glycerop
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF01734 Patatin 10 179 Patatin-like phospholipase Family
Sequence
MYDAERGWSLSFAGCGFLGFYHVGATRCLSEHAPHLLRDARMLFGASAGALHCVGVLSGI
PLEQTLQVLSDLVRKARSRNIGIFHPSFNLSKFLRQGLCKCLPANVHQLISGKIGISLTR
VSDGENVLVSDFRSKDEVVDALVCSCFIPFYSGLIPPSFRGVRYVDGGVSDNVPFIDAK
T
TITVSPFYGEYDICPKVKSTNFLHVDITKLSLRLCTGNLYLLSRAFVPPDLKVLGEICLR
GYLDAFRFLEEKGICNRPQPGLKSSSEGMDPEVAMPSWANMSLDSSPESAALAVRLEGDE
LLDHLRLSILPWDESILDTLSPRLATALSEEMKDKGGYMSKICNLLPIRIMSYVMLPCTL
PVESAIAIVQRLVTWLPDMPDDVLWLQWVTSQVFTRVLMCLLPASRSQMPVSSQQASPCT
PEQDWPCWTPCSPKGCPAETKAEATPRSILRSSLNFFLGNKVPAGAEGLSTFPSFSLEKS
L
Sequence length 481
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  KEGG   Reactome
  Glycerolipid metabolism
Metabolic pathways
  Acyl chain remodeling of DAG and TAG
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Associated diseases Disease associations categorized as Causal (pathogenic variants), Unknown (uncertain genetic evidence), or Text Mining (literature-based associations)
Unknown Includes: (1) ClinVar NON-pathogenic variants (Uncertain, Benign, Conflicting, VUS), (2) GenCC associations, (3) GWAS associations, (4) CBGDA evidence-based associations. NOTE: Diseases with pathogenic evidence are excluded to avoid conflicts.
Disease merge term Disease name Evidence References Source
Acne acne vulgaris N/A N/A GWAS
Cholelithiasis Cholelithiasis N/A N/A GWAS
Cirrhosis Cirrhosis N/A N/A GWAS
Coronary artery disease Coronary artery disease N/A N/A GWAS
Associations from Text Mining Disease associations identified through Pubtator
Disease Name Relationship Type References
Alcoholism Associate 23032985, 24114820, 31630428, 33279778, 36190732
Asthma Associate 36233078
Atherosclerosis Associate 36079710
Brain Infarction Associate 32592869
Carcinoma Hepatocellular Associate 22087248, 22869157, 22898488, 23776098, 24155878, 24670599, 24763554, 25171251, 25504078, 26219465, 26745088, 26854475, 27888630, 28674415, 28928439
View all (27 more)
Carcinoma Lobular Associate 20684021
Cardiomyopathy Familial Hypertrophic 1 Associate 30218427
Cardiovascular Diseases Associate 34798835, 35085396
Carotid Artery Diseases Associate 24069270, 32592869
Carotid Stenosis Associate 24069270