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 (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
47
Evidence Score: ★☆☆☆☆  Gene-disease association found in Text Mining only ★★☆☆☆  Found in Text Mining and Unknown/Other Associations ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Phenotype Name Clinical Significance Source Evidence Score
BILIARY TRACT DISEASE GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
BRAIN DISEASE GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
CHOLELITHIASIS GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
CHRONIC ISCHEMIC HEART DISEASE Disgenet
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text Mining Disease associations identified through text mining
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
22q13.3 Deletion Syndrome 22q13.3 deletion syndrome BEFREE 30308089
★☆☆☆☆
Found in Text Mining only
Acute lymphocytic leukemia Lymphocytic Leukemia BEFREE 28090653
★☆☆☆☆
Found in Text Mining only
Adrenoleukodystrophy Adrenoleukodystrophy BEFREE 21334404, 22869157, 25060292, 25964223, 26676812, 29474507, 30132178, 30161167
★☆☆☆☆
Found in Text Mining only
Adult Hepatocellular Carcinoma Liver carcinoma BEFREE 24222094
★☆☆☆☆
Found in Text Mining only
Arteriosclerosis Arteriosclerosis BEFREE 21281435
★☆☆☆☆
Found in Text Mining only
Asthma Asthma BEFREE 30327483
★☆☆☆☆
Found in Text Mining only
Asthma Asthma Pubtator 36233078 Associate
★☆☆☆☆
Found in Text Mining only
Asymmetric Septal Hypertrophy Septal Hypertrophy BEFREE 26745088
★☆☆☆☆
Found in Text Mining only
Atherosclerosis Atherosclerosis BEFREE 21281435
★☆☆☆☆
Found in Text Mining only
Atherosclerosis Atherosclerosis Pubtator 36079710 Associate
★☆☆☆☆
Found in Text Mining only