Gene Gene information from NCBI Gene database.
Entrez ID 80339
Gene name Patatin like domain 3, 1-acylglycerol-3-phosphate O-acyltransferase
Gene symbol PNPLA3
Synonyms (NCBI Gene)
ADPNC22orf20iPLA(2)epsilon
Chromosome 22
Chromosome location 22q13.31
Summary 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.
1
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.
398
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 (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
50
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 identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
609567 18590 ENSG00000100344
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
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
Associated diseases Disease associations from ClinVar categorized as Causal (Pathogenic/Likely Pathogenic) or Unknown.
90
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Hepatic steatosis Conflicting classifications of pathogenicity; risk factor rs738409 RCV004555861
NAFLD1 Likely benign; Uncertain significance; Benign; Conflicting classifications of pathogenicity; risk factor rs531789428, rs548897706, rs773713393, rs116679026, rs144872932, rs144233415, rs184910573, rs147289545, rs6006460, rs569255289, rs886057601, rs1810508, rs9626058, rs140746182, rs116795637
View all (63 more)
RCV000381090
RCV000270244
RCV000327719
RCV000268132
RCV000306853
RCV000271818
RCV000386010
RCV000332852
RCV000389671
RCV000374722
RCV000347103
RCV000263661
RCV000384972
RCV000324080
RCV000292176
RCV000349396
RCV000296203
RCV000303133
RCV000360539
RCV000363832
RCV000329258
RCV000275317
RCV000336423
RCV000292212
RCV000358440
RCV000300138
RCV000290627
RCV000388153
RCV000334729
RCV000394397
RCV000278984
RCV000307359
RCV000343550
RCV000369726
RCV000330406
RCV000384602
RCV000394383
RCV000825505
RCV000338077
RCV000403959
RCV000303848
RCV000275143
RCV001146076
RCV001146077
RCV001146078
RCV001148869
RCV001148870
RCV001148871
RCV001148872
RCV001148873
RCV001150394
RCV001150395
RCV001144298
RCV001144299
RCV001144300
RCV001144301
RCV001144302
RCV001146192
RCV001146193
RCV001146194
RCV001146195
RCV001148997
RCV001148999
RCV001150504
RCV001150505
RCV001144419
RCV001144420
RCV001144421
RCV001144422
RCV001146315
RCV001146316
RCV001146317
RCV001146318
RCV001149121
RCV001146075
RCV001146189
RCV001146190
RCV001146191
RCV001148998
Ovarian serous cystadenocarcinoma Uncertain significance rs185208551 RCV005913884
Susceptibility to Nonalcoholic Fatty Liver Disease Likely benign; Uncertain significance rs397716964, rs3083314 RCV000396866
RCV000259914
RCV000333769
RCV000355028
Associations from Text MiningDisease 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