PNPLA2 (patatin like domain 2, triacylglycerol lipase)

Gene Gene information from NCBI Gene database.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID 57104
Gene name Patatin like domain 2, triacylglycerol lipase
Gene symbol PNPLA2
Synonyms (NCBI Gene)
1110001C14RikATGLFP17548PEDF-RTTS-2.2TTS2iPLA2zeta
Chromosome 11
Chromosome location 11p15.5
Summary 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.
8
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.
34
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 (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
56
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 identifiers for this gene in OMIM, HGNC, and Ensembl databases.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
MIM HGNC e!Ensembl
609059 30802 ENSG00000177666
Protein Protein information from UniProt database.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
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
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
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Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
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)
Show/Hide Causal Diseases (2)
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession Evidence Score
Abnormality of the musculature Likely pathogenic rs2133851953, rs868742399 RCV001814421
RCV001814293
★★★★★
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Neutral lipid storage myopathy Likely pathogenic; Pathogenic rs1318685186, rs2133849513, rs2133850152, rs1255475913, rs2133847468, rs2133849618, rs796065303, rs121918259, rs796065304, rs121918260, rs921050282, rs2495553147, rs2495547976, rs1489387064, rs2495553252
View all (13 more)		 RCV001376180
RCV001381728
RCV001383465
RCV001941902
RCV001941995
View all (23 more)
★★★★★
★★★★★
ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Show/Hide Unknown Diseases (19)
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
Acute myeloid leukemia Benign ClinVar
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Cervical cancer Benign ClinVar
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Clear cell carcinoma of kidney Benign; Likely benign ClinVar
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
CONGESTIVE HEART FAILURE — Disgenet
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Show/Hide Text Mining Associations (171)
Associations from Text Mining Disease associations identified through text mining
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Acanthosis Nigricans Acanthosis Nigricans BEFREE 22288782
★★★★★
★☆☆☆☆
Found in Text Mining only
Acute Promyelocytic Leukemia Promyelocytic Leukemia BEFREE 26318046
★★★★★
★☆☆☆☆
Found in Text Mining only
Adenocarcinoma Adenocarcinoma BEFREE 27213586
★★★★★
★☆☆☆☆
Found in Text Mining only
Adenocarcinoma of rectum Adenocarcinoma Of Rectum BEFREE 27431441
★★★★★
★☆☆☆☆
Found in Text Mining only
Age related macular degeneration Age-related macular degeneration BEFREE 15823717, 28679845
★★★★★
★☆☆☆☆
Found in Text Mining only
ANOPHTHALMIA AND PULMONARY HYPOPLASIA Syndromic microphthalmia BEFREE 28179319
★★★★★
★☆☆☆☆
Found in Text Mining only
Arteriosclerosis Arteriosclerosis BEFREE 21828047, 30272285, 30326915
★★★★★
★☆☆☆☆
Found in Text Mining only
Atherosclerosis Atherosclerosis BEFREE 21828047, 30272285, 30326915
★★★★★
★☆☆☆☆
Found in Text Mining only
Atherosclerosis Atherosclerosis Pubtator 21828047 Associate
★★★★★
★☆☆☆☆
Found in Text Mining only
Atrophy Atrophy Pubtator 25956450 Associate
★★★★★
★☆☆☆☆
Found in Text Mining only