Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

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]

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
rs796065309	C>-	Pathogenic	Frameshift variant, coding sequence variant
rs796065310	->CTCC	Pathogenic	Frameshift variant, coding sequence variant
rs1554975332	G>C	Likely-pathogenic	Splice donor variant

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
MIRT1245417	hsa-miR-1915	CLIP-seq
MIRT1245418	hsa-miR-3190	CLIP-seq
MIRT1245419	hsa-miR-3911	CLIP-seq
MIRT1245420	hsa-miR-4455	CLIP-seq
MIRT2072597	hsa-miR-124	CLIP-seq
MIRT2072598	hsa-miR-3157-5p	CLIP-seq
MIRT2072599	hsa-miR-4459	CLIP-seq
MIRT2072600	hsa-miR-4691-3p	CLIP-seq
MIRT2072601	hsa-miR-506	CLIP-seq
MIRT2072602	hsa-miR-744	CLIP-seq
MIRT2299747	hsa-miR-1266	CLIP-seq
MIRT1245417	hsa-miR-1915	CLIP-seq
MIRT1245418	hsa-miR-3190	CLIP-seq
MIRT2299748	hsa-miR-3202	CLIP-seq
MIRT2299749	hsa-miR-3664-3p	CLIP-seq
MIRT1245419	hsa-miR-3911	CLIP-seq
MIRT2299750	hsa-miR-4261	CLIP-seq
MIRT2299751	hsa-miR-4433	CLIP-seq
MIRT2299752	hsa-miR-4436b-3p	CLIP-seq
MIRT1245420	hsa-miR-4455	CLIP-seq
MIRT2072599	hsa-miR-4459	CLIP-seq
MIRT2299753	hsa-miR-4518	CLIP-seq
MIRT2299754	hsa-miR-4690-5p	CLIP-seq
MIRT2299755	hsa-miR-4725-5p	CLIP-seq
MIRT2299756	hsa-miR-4747-5p	CLIP-seq
MIRT2299757	hsa-miR-4768-3p	CLIP-seq
MIRT2299758	hsa-miR-504	CLIP-seq
MIRT2299759	hsa-miR-518a-5p	CLIP-seq
MIRT2299760	hsa-miR-527	CLIP-seq

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
GO:0004806	Function	Triacylglycerol lipase activity	IBA
GO:0004806	Function	Triacylglycerol lipase activity	IDA	15364929, 15550674, 16150821, 17603008, 34903883
GO:0004806	Function	Triacylglycerol lipase activity	IEA
GO:0004806	Function	Triacylglycerol lipase activity	IMP	16239926
GO:0004806	Function	Triacylglycerol lipase activity	ISS
GO:0004806	Function	Triacylglycerol lipase activity	TAS
GO:0005515	Function	Protein binding	IPI	17032652
GO:0005654	Component	Nucleoplasm	IDA
GO:0005737	Component	Cytoplasm	IBA
GO:0005737	Component	Cytoplasm	IEA
GO:0005737	Component	Cytoplasm	ISS
GO:0005788	Component	Endoplasmic reticulum lumen	TAS
GO:0005789	Component	Endoplasmic reticulum membrane	TAS
GO:0005811	Component	Lipid droplet	IBA
GO:0005811	Component	Lipid droplet	IDA	34903883
GO:0005811	Component	Lipid droplet	IDA	16239926, 21498505, 28578400
GO:0005811	Component	Lipid droplet	IEA
GO:0005829	Component	Cytosol	IEA
GO:0005886	Component	Plasma membrane	IDA	17032652
GO:0005886	Component	Plasma membrane	IEA
GO:0006629	Process	Lipid metabolic process	IEA
GO:0006639	Process	Acylglycerol metabolic process	IEA
GO:0006651	Process	Diacylglycerol biosynthetic process	IEA
GO:0006651	Process	Diacylglycerol biosynthetic process	ISS
GO:0007603	Process	Phototransduction, visible light	IEA
GO:0010891	Process	Negative regulation of triglyceride storage	IEA
GO:0010898	Process	Positive regulation of triglyceride catabolic process	IEA
GO:0016020	Component	Membrane	IBA
GO:0016020	Component	Membrane	IEA
GO:0016042	Process	Lipid catabolic process	IEA
GO:0016042	Process	Lipid catabolic process	IEA
GO:0016411	Function	Acylglycerol O-acyltransferase activity	IDA	17603008
GO:0016411	Function	Acylglycerol O-acyltransferase activity	TAS
GO:0016787	Function	Hydrolase activity	IEA
GO:0019433	Process	Triglyceride catabolic process	IBA
GO:0019433	Process	Triglyceride catabolic process	IDA	16679289
GO:0019433	Process	Triglyceride catabolic process	IEA
GO:0019433	Process	Triglyceride catabolic process	ISS
GO:0019915	Process	Lipid storage	IEA
GO:0034389	Process	Lipid droplet organization	IEA
GO:0034389	Process	Lipid droplet organization	IEA
GO:0035356	Process	Intracellular triglyceride homeostasis	IMP	28578400
GO:0036155	Process	Acylglycerol acyl-chain remodeling	TAS
GO:0042572	Process	Retinol metabolic process	IEA
GO:0050253	Function	Retinyl-palmitate esterase activity	EXP	17603008
GO:0050253	Function	Retinyl-palmitate esterase activity	IEA
GO:0051264	Function	Mono-olein transacylation activity	IDA	15364929
GO:0051265	Function	Diolein transacylation activity	IDA	15364929
GO:0055088	Process	Lipid homeostasis	IBA
GO:0160077	Process	Lipid droplet fusion	IDA	28578400
GO:1905691	Process	Lipid droplet disassembly	IMP	16239926

MIM	HGNC	e!Ensembl
609059	30802	ENSG00000177666

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

	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

582

Show/Hide Causal Diseases (2)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Abnormality of the musculature	Likely pathogenic	rs2133851953, rs868742399	RCV001814421 RCV001814293
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 RCV001953511 RCV000001950 RCV000001951 RCV000001952 RCV000001953 RCV003067561 RCV003499962 RCV003498521 RCV003600240 RCV003601109 RCV004594819 RCV000033092 RCV000033093 RCV000033094 RCV000033095 RCV003497872 RCV000687677 RCV000821800 RCV000055641 RCV000055642 RCV000055643 RCV001214622 RCV001255207

Show/Hide Unknown Diseases (10)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Acute myeloid leukemia	Benign	rs11554663	RCV005894092
Cervical cancer	Benign	rs11554663	RCV005894093
Clear cell carcinoma of kidney	Benign; Likely benign	rs145835771	RCV005894097
Lung cancer	Benign	rs11554663	RCV005894096
Myopathy	Uncertain significance	rs2133849779	RCV001553540
Ovarian serous cystadenocarcinoma	Benign; Likely benign	rs145835771, rs11554663	RCV005894098 RCV005894095
PNPLA2-related disorder	Uncertain significance; Likely benign; Conflicting classifications of pathogenicity	rs200993304, rs572200318, rs1015906173, rs928426970, rs377534825, rs200897893, rs372342635, rs758918583, rs140634178, rs141674273, rs767707536, rs944560685, rs201065998, rs761885395, rs917822758	RCV003402027 RCV003958895 RCV003893202 RCV004756421 RCV003427533 RCV003910129 RCV003920265 RCV003977890 RCV004755935 RCV003900176 RCV004755959 RCV004756032 RCV003967952 RCV003948318 RCV003983286 RCV003953483
Sarcoma	Benign; Likely benign	rs11554663, rs1341059567	RCV005894094 RCV005931466
See cases	Uncertain significance	rs747915336	RCV002252161
Thymoma	Benign; Likely benign	rs145835771	RCV005894099

Show/Hide Text Mining Associations (62)

Disease Name	Relationship Type	References
Associations from Text MiningDisease associations identified through Pubtator
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
Coronary Artery Disease	Associate	21828047, 31186072
Coronary Artery Disease	Inhibit	31979197
Diabetes Gestational	Inhibit	24262292
Diabetes Gestational	Stimulate	25118138
Diabetes Mellitus	Associate	25956450
Diabetes Mellitus Type 2	Associate	32685558
Diabetic Nephropathies	Associate	32685558
Diabetic Neuropathies	Associate	25956450
Distal myopathy Nonaka type	Associate	19208393
Embolism Fat	Associate	33449950
Fatty Liver	Associate	25956450, 31979197, 32542055, 36611868
Fetal Growth Retardation	Associate	35090410
Heart Diseases	Associate	23232698, 28258942, 31186072
Heart Failure	Associate	19729869, 31186072
Hereditary Breast and Ovarian Cancer Syndrome	Inhibit	37181035
Hyperglycemic Hyperosmolar Nonketotic Coma	Associate	33450726
Ichthyosis	Associate	23232698
Infections	Associate	23232698
Inflammation	Associate	16882668
Insulin Resistance	Associate	21498783
Keratoconus	Associate	31855235, 38136930
Kyphosis	Associate	25956450
Leukemia Myeloid Acute	Associate	35395550
Leukemic Infiltration	Associate	31655616
Maturity Onset Diabetes of the Young Type 2	Associate	33450726
Mitochondrial Diseases	Associate	29681094
Muscle Cramp	Associate	25956450
Muscle Weakness	Associate	22964912, 25956450, 28258942, 40598302
Muscular Diseases	Associate	19208393, 20471263, 22964912, 22990388, 23232698, 28258942, 31655616
Myopathy with Abnormal Lipid Metabolism	Associate	19208393, 23232698, 36326420
Myopathy with Lactic Acidosis Hereditary	Associate	25956450
Myotonia	Associate	37106355
Myotonia Congenita	Associate	37106355
Nasopharyngeal Carcinoma	Associate	33064888
Neoplasms	Associate	16882668, 26318046, 29256392, 33706793, 37021483
Neuromuscular Diseases	Associate	37106355
Neutral Lipid Storage Disease with Myopathy	Associate	19208393, 20471263, 21170305, 21828047, 22964912, 22990388, 23232698, 25956450, 28258942, 28391974, 30223778, 31655616, 32542055, 36326420, 37106355, 39174932, 40598302 View all (2 more)
Obesity	Inhibit	17609260, 21828047, 29400609
Obesity	Associate	19729869, 27245338
Obesity	Stimulate	22166762
Obesity Maternal	Inhibit	24262292
Overweight	Associate	29400609
Peripheral Nervous System Diseases	Associate	36741233
Prostatic Neoplasms	Associate	28877685, 33824421
Reflex Abnormal	Associate	25956450
Triglyceride Storage Disease Type I	Associate	19729869, 24360150, 31186072
Triple Negative Breast Neoplasms	Associate	36604676
Uterine Cervical Neoplasms	Associate	33706793
Ventricular Dysfunction Left	Associate	28258942
Vitiligo	Associate	33757175
Wasting Syndrome	Associate	37021483
Weight Loss	Stimulate	26663986

PNPLA2 (patatin like domain 2, triacylglycerol lipase)