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Gene: PNPLA3 (patatin like phospholipase domain containing 3) Homo sapiens
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Symbol: PNPLA3
Name: patatin like phospholipase domain containing 3
Description: Exhibits acylglycerol O-acyltransferase activity; anion binding activity; and lipase activity. Involved in glycerolipid metabolic process; lipid droplet organization; and long-chain fatty acid metabolic process. Localizes to lipid droplet and membrane. Implicated in coronary artery disease; fatty liver disease (multiple); liver disease (multiple); and type 2 diabetes mellitus.
Type: protein-coding
RefSeq Status: REVIEWED
Also known as: 1-acylglycerol-3-phosphate O-acyltransferase PNPLA3; acylglycerol O-acyltransferase; acylglycerol transacylase; adiponutrin; ADPN; C22orf20; calcium-independent phospholipase A2-epsilon; iPLA(2)epsilon; iPLA2-epsilon; iPLA2epsilon; lysophosphatidic acid acyltransferase; patatin-like phospholipase domain containing 3; patatin-like phospholipase domain-containing protein 3
Orthologs:
Mus musculus (house mouse) : Pnpla3 (patatin-like phospholipase domain containing 3)  MGI  Alliance
Rattus norvegicus (Norway rat) : Pnpla3 (patatin-like phospholipase domain containing 3)  Alliance
Chinchilla lanigera (long-tailed chinchilla) : Pnpla3 (patatin like phospholipase domain containing 3)
Pan paniscus (bonobo/pygmy chimpanzee) : PNPLA3 (patatin like phospholipase domain containing 3)
Canis lupus familiaris (dog) : PNPLA3 (patatin like phospholipase domain containing 3)
Ictidomys tridecemlineatus (thirteen-lined ground squirrel) : Pnpla3 (patatin like phospholipase domain containing 3)
Sus scrofa (pig) : PNPLA3 (patatin like phospholipase domain containing 3)
Chlorocebus sabaeus (African green monkey) : PNPLA3 (patatin like phospholipase domain containing 3)
more info ...
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 Ensembl2243,923,792 - 43,964,488 (+)EnsemblGRCh38hg38GRCh38
GRCh382243,923,805 - 43,947,582 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh372244,319,619 - 44,343,451 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 362242,650,952 - 42,674,781 (+)NCBINCBI36hg18NCBI36
Celera2228,230,136 - 28,255,047 (+)NCBI
Cytogenetic Map22q13.31NCBI
HuRef2227,273,880 - 27,298,036 (+)NCBIHuRef
CHM1_12244,278,349 - 44,302,177 (+)NCBICHM1_1
JBrowse: View Region in Genome Browser (JBrowse)
Model


Disease Annotations
Gene-Chemical Interaction Annotations
Gene Ontology Annotations
References - curated
References - uncurated

Genomics

Comparative Map Data
Position Markers
miRNA Target Status

Expression

RNA-SEQ Expression

Sequence

Nucleotide Sequences
Protein Sequences
Promoters
Clinical Variants

Additional Information

External Database Links
Nomenclature History
 
More on PNPLA3
Alliance Gene
NCBI Gene
Ensembl Gene
JBrowse: hg19 hg38
HGNC Report
NCBI Genome Data Viewer

RGD Object Information
RGD ID: 1601958
Created: 2007-04-27
Species: Homo sapiens
Last Modified: 2020-07-07
Status: ACTIVE



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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.