PNPLA2 (patatin like domain 2, triacylglycerol lipase)

Gene
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
57104
Gene name Gene Name - the full gene name approved by the HGNC.
Patatin like domain 2, triacylglycerol lipase
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
PNPLA2
Synonyms (NCBI Gene) Gene synonyms aliases
1110001C14Rik, ATGL, FP17548, PEDF-R, TTS-2.2, TTS2, iPLA2zeta
Chromosome Chromosome number
11
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
11p15.5
Summary Summary of gene provided in NCBI Entrez Gene.
This gene encodes an enzyme which catalyzes the first step in the hydrolysis of triglycerides in adipose tissue. Mutations in this gene are associated with neutral lipid storage disease with myopathy. [provided by RefSeq, Jul 2010]
SNPs SNP information provided by dbSNP.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all(8)
SNP ID Visualize variation Clinical significance Consequence
rs121918259 C>T Pathogenic Coding sequence variant, missense variant
rs192598547 C>T Conflicting-interpretations-of-pathogenicity Coding sequence variant, synonymous variant
rs554737718 G>A,C Pathogenic Missense variant, coding sequence variant
rs796065307 C>- Pathogenic Frameshift variant, coding sequence variant
rs796065308 ->C Pathogenic Frameshift variant, coding sequence variant
miRNA miRNA information provided by mirtarbase database.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all(34)
miRTarBase ID miRNA Experiments Reference
MIRT019467 hsa-miR-148b-3p Microarray 17612493
MIRT023204 hsa-miR-124-3p Microarray 18668037
MIRT023204 hsa-miR-124-3p PAR-CLIP 26701625
MIRT023204 hsa-miR-124-3p PAR-CLIP 26701625
MIRT023204 hsa-miR-124-3p PAR-CLIP 26701625
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all(56)
GO ID Ontology Definition Evidence Reference
GO:0001523 Process Retinoid metabolic process IEA
GO:0004465 Function Lipoprotein lipase activity TAS
GO:0004623 Function Phospholipase A2 activity IDA 15364929, 17032652
GO:0004623 Function Phospholipase A2 activity IEA
GO:0004806 Function Triacylglycerol lipase activity EXP 17603008
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
MIM HGNC e!Ensembl
609059 30802 ENSG00000177666
Protein
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
UniProt ID Q96AD5
Protein name Patatin-like phospholipase domain-containing protein 2 (EC 3.1.1.3) (Adipose triglyceride lipase) (Calcium-independent phospholipase A2-zeta) (iPLA2-zeta) (EC 3.1.1.4) (Desnutrin) (Pigment epithelium-derived factor receptor) (PEDF-R) (TTS2.2) (Transport-s
Protein function Catalyzes the initial step in triglyceride hydrolysis in adipocyte and non-adipocyte lipid droplets (PubMed:15364929, PubMed:15550674, PubMed:16150821, PubMed:16239926, PubMed:17603008, PubMed:34903883). Exhibits a strong preference for the hydr
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF01734 Patatin 10 → 178 Patatin-like phospholipase Family
Tissue specificity TISSUE SPECIFICITY: Highest expression in adipose tissue. Also detected in heart, skeletal muscle, and portions of the gastrointestinal tract. Detected in normal retina and retinoblastoma cells. Detected in retinal pigment epithelium and, at lower intensi
Sequence 
MFPREKTWNISFAGCGFLGVYYVGVASCLREHAPFLVANATHIYGASAGALTATALVTGV
CLGEAGAKFIEVSKEARKRFLGPLHPSFNLVKIIRSFLLKVLPADSHEHASGRLGISLTR
VSDGENVIISHFNSKDELIQANVCSGFIPVYCGLIPPSLQGVRYVDGGISDNLPLYELKN
TITVSPFSGESDICPQDSSTNIHELRVTNTSIQFNLRNLYRLSKALFPPEPLVLREMCKQ
GYRDGLRFLQRNGLLNRPNPLLALPPARPHGPEDKDQAVESAQAEDYSQLPGEDHILEHL
PARLNEALLEACVEPTDLLTTLSNMLPVRLATAMMVPYTLPLESALSFTIRLLEWLPDVP
EDIRWMKEQTGSICQYLVMRAKRKLGRHLPSRLPEQVELRRVQSLPSVPLSCAAYREALP
GWMRNNLSLGDALAKWEECQRQLLLGLFCTNVAFPPEALRMRAPADPAPAPADPASPQHQ
LAGPAPLLSTPAPEARPVIGALGL
Sequence length 504
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
  KEGG   Reactome
  Glycerolipid metabolism
Metabolic pathways
Thermogenesis
Regulation of lipolysis in adipocytes 		  Acyl chain remodeling of DAG and TAG
Regulation of Insulin-like Growth Factor (IGF) transport and uptake by Insulin-like Growth Factor Binding Proteins (IGFBPs)
Post-translational protein phosphorylation
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Associated diseases Disease associations categorized as Causal (pathogenic variants), Unknown (uncertain genetic evidence), or Text Mining (literature-based associations)
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide Causal Diseases (1)
Causal Diseases caused by PATHOGENIC or LIKELY PATHOGENIC variants from ClinVar only
Disease merge term Disease name dbSNP ID References
Neutral Lipid Storage Myopathy neutral lipid storage myopathy rs869320738, rs796065307, rs796065308, rs796065309, rs796065310, rs796065303, rs1554975332, rs121918259, rs1565089992, rs796065304, rs554737718, rs121918260, rs777539013, rs397514625 N/A
Show/Hide Unknown Diseases (1)
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
Keratoconus Keratoconus N/A N/A GWAS
Show/Hide Text Mining Associations (62)
Associations from Text Mining Disease associations identified through Pubtator
Disease Name Relationship Type References
Adenocarcinoma of Lung Associate 37985446
Atherosclerosis Associate 21828047
Atrophy Associate 25956450
Breast Neoplasms Associate 33380715
Carcinoma Hepatocellular Associate 30918066, 31476254
Carcinoma Squamous Cell Associate 37985446
Cardiomyopathies Associate 30223778, 31655616
Chanarin Dorfman Syndrome Associate 19208393, 21828047, 36326420
Colorectal Neoplasms Associate 36849520
Congenital Abnormalities Associate 22964912