PNPLA2

Summary

PNPLA2 (patatin like domain 2, triacylglycerol lipase, HGNC:30802) is a protein-coding gene on chromosome 11p15.5, encoding Patatin-like phospholipase domain-containing protein 2 (Q96AD5). Catalyzes the initial step in triglyceride hydrolysis in adipocyte and non-adipocyte lipid droplets.

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.

Source: NCBI Gene 57104 — RefSeq curated summary.

At a glance

• Gene–disease (curated): neutral lipid storage myopathy (Definitive, ClinGen)
• GWAS associations: 19
• Clinical variants (ClinVar): 640 total — 29 pathogenic, 6 likely-pathogenic
• Phenotypes (HPO): 71
• Druggable target: yes
• MANE Select transcript: NM_020376

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:30802
Approved symbol	PNPLA2
Name	patatin like domain 2, triacylglycerol lipase
Location	11p15.5
Locus type	gene with protein product
Status	Approved
Aliases	desnutrin, TTS-2.2, ATGL, FP17548, iPLA2zeta
Ensembl gene	ENSG00000177666
Ensembl biotype	protein_coding
OMIM	609059
Entrez	57104

Gene structure

Transcript identifiers

Ensembl transcripts: 13 — 8 protein_coding, 5 retained_intron

ENST00000336615, ENST00000525250, ENST00000526083, ENST00000529255, ENST00000531923, ENST00000534561, ENST00000869283, ENST00000869284, ENST00000869285, ENST00000869286, ENST00000869287, ENST00000921859, ENST00000921860

RefSeq mRNA: 1 — MANE Select: NM_020376 NM_020376

CCDS: CCDS7718

Canonical transcript exons

ENST00000336615 — 10 exons

Exon	Start	End
ENSE00001262761	823694	823855
ENSE00001262766	823527	823587
ENSE00001262781	821628	821860
ENSE00001303954	824523	825573
ENSE00001362190	819574	819905
ENSE00001362195	818914	818958
ENSE00003477028	824314	824436
ENSE00003483204	823998	824130
ENSE00003608098	821958	822023
ENSE00003635008	822397	822606

Expression profiles

Bgee: expression breadth ubiquitous, 264 present calls, max score 99.54.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 148.1349 / max 4553.0667, expressed in 1825 samples.

FANTOM5 promoters (12 alternative TSS)

Promoter ID	TPM avg	Samples expressed
112268	126.2173	1823
112267	14.7344	998
112269	2.5317	621
112275	1.2039	571
112280	0.9695	462
112274	0.8789	394
112273	0.6347	295
112277	0.3709	130
112281	0.2289	73
112276	0.1662	54

Top tissues by expression

291 total, by Bgee expression score (0-100, higher = more expressed):

Tissue	Anatomy ID	Expression score	Quality
omental fat pad	UBERON:0010414	99.54	gold quality
peritoneum	UBERON:0002358	99.50	gold quality
adipose tissue of abdominal region	UBERON:0007808	99.23	gold quality
apex of heart	UBERON:0002098	99.09	gold quality
metanephros cortex	UBERON:0010533	98.83	gold quality
subcutaneous adipose tissue	UBERON:0002190	98.77	gold quality
left coronary artery	UBERON:0001626	98.68	gold quality
mucosa of stomach	UBERON:0001199	98.67	gold quality
right lung	UBERON:0002167	98.60	gold quality
coronary artery	UBERON:0001621	98.56	gold quality
mucosa of transverse colon	UBERON:0004991	98.53	gold quality
body of stomach	UBERON:0001161	98.49	gold quality
minor salivary gland	UBERON:0001830	98.49	gold quality
right coronary artery	UBERON:0001625	98.46	gold quality
gastrocnemius	UBERON:0001388	98.42	gold quality
small intestine Peyer’s patch	UBERON:0003454	98.42	gold quality
tibial nerve	UBERON:0001323	98.40	gold quality
body of pancreas	UBERON:0001150	98.30	gold quality
heart left ventricle	UBERON:0002084	98.30	gold quality
right atrium auricular region	UBERON:0006631	98.29	gold quality
left lobe of thyroid gland	UBERON:0001120	98.28	gold quality
left adrenal gland cortex	UBERON:0035825	98.24	gold quality
right lobe of thyroid gland	UBERON:0001119	98.21	gold quality
right adrenal gland cortex	UBERON:0035827	98.21	gold quality
thoracic aorta	UBERON:0001515	98.19	gold quality
popliteal artery	UBERON:0002250	98.19	gold quality
tibial artery	UBERON:0007610	98.19	gold quality
ascending aorta	UBERON:0001496	98.18	gold quality
cardiac ventricle	UBERON:0002082	98.17	gold quality
hindlimb stylopod muscle	UBERON:0004252	98.15	gold quality

Single-cell (SCXA)

Detected in 3 experiment(s), a significant marker in 2.

Experiment	Marker?	Max mean expression
E-CURD-114	yes	43.70
E-GEOD-75367	no	71.86
E-ANND-3	no	0.00

Regulation

Is transcription factor: no

Upstream regulators (CollecTRI, top): EGR1, ELF1, FOXO1, PPARD, PPARG, TFE3

miRNA regulators (miRDB)

42 targeting PNPLA2, top 30 by miRDB confidence (max_score; target_count = how many genes the miRNA targets in total — lower means more specific):

miRNA	Max score	Avg score	miRNA target_count
HSA-MIR-5692A	100.00	74.40	6850
HSA-MIR-8485	100.00	77.57	4731
HSA-MIR-548AW	99.99	72.57	3559
HSA-MIR-1184	99.99	68.19	1458
HSA-MIR-103A-3P	99.98	69.14	1595
HSA-MIR-107	99.98	69.14	1595
HSA-MIR-6825-5P	99.96	69.81	3431
HSA-MIR-124-3P	99.89	73.74	3043
HSA-MIR-506-3P	99.89	73.55	3057
HSA-MIR-3941	99.86	70.54	2735
HSA-MIR-4728-5P	99.85	69.39	4718
HSA-MIR-6785-5P	99.82	68.68	4428
HSA-MIR-149-3P	99.72	68.22	3963
HSA-MIR-518A-5P	99.70	69.01	2209
HSA-MIR-527	99.70	69.01	2209
HSA-MIR-6883-5P	99.69	68.05	3785
HSA-MIR-4729	99.69	72.18	4233
HSA-MIR-1249-5P	99.61	66.55	2049
HSA-MIR-6797-5P	99.61	66.55	2084
HSA-MIR-186-3P	99.51	66.24	1685
HSA-MIR-148A-5P	99.30	68.27	1141
HSA-MIR-4291	99.20	68.88	2969
HSA-MIR-485-5P	99.10	64.78	1889
HSA-MIR-6884-5P	99.10	64.50	1987
HSA-MIR-3619-5P	99.00	68.87	2308
HSA-MIR-6829-5P	98.86	65.12	1480
HSA-MIR-2276-3P	98.76	67.75	1384
HSA-MIR-455-5P	98.74	67.31	795
HSA-MIR-761	98.71	68.07	2051
HSA-MIR-3187-5P	98.36	65.74	1776

Literature-anchored findings (GeneRIF, showing 40)

• iPLA2epsilon (adiponutrin), iPLA2zeta (TTS-2.2), and iPLA2eta (GS2) are three novel TAG lipases/acylglycerol transacylases that likely participate in TAG hydrolysis and the acyl-CoA independent transacylation of acylglycerols (PMID:15364929)
• reported that adipose triglyceride lipase (ATGL), catalyzes the initial step in triglyceride hydrolysis; ATGL and hormone-sensitive lipase (HSL) coordinately catabolize stored triglycerides in adipose tissue [ATGL] (PMID:15550674)
• Results show that adipose triglyceride lipase has an important role in lipid droplet/adiposome turnover (PMID:16239926)
• Polymorphisms indicate potential role of ATGL in pathways involved in components of the metabolic syndrome. (PMID:16644682)
• CGI-58 interacts with adipose triglyceride lipase, stimulating its TG hydrolase activity up to 20-fold (PMID:16679289)
• PNPLA2 is not regulated by obesity and exhibits low in vitro triglyceride hydrolase activity. (PMID:16752181)
• identified a novel PEDF-R gene in the retina for a phospholipase-linked membrane protein with high affinity for PEDF, suggesting a molecular pathway by which ligand/receptor interaction on the cell surface could generate a cellular signal (PMID:17032652)
• Neutral lipid storage disease subgroup characterized by mild myopathy, absence of ichthyosis and mutations in both alleles of adipose triglyceride lipase. (PMID:17187067)
• Adipose triglyceride lipase (ATGL) is less important than hormone-sensitive lipase (HSL) in regulating catecholamine-induced lipolysis. Both lipases regulate basal lipolysis in human adipocytes. ATGL expression is not influenced by obesity or PCOS. (PMID:17327373)
• In obese subjects, insulin resistance and hyperinsulinemia are strongly associated with ATGL and HSL mRNA and protein expression, independent of fat mass (PMID:17356053)
• The lack of correlation between ATGL protein content and in vitro TG lipase activity indicates that small decrements in ATGL protein expression are not responsible for the reduction in TG lipase activity observed in obesity. (PMID:17609260)
• Deficient in lipid storage diseases. (PMID:17631826)
• In the present study a novel homozygous PNPLA2 mutation c.475_478dupCTCC (p.Gln160ProfsX19) in the patatin domain, the ATGL active site, was detected in a woman with NLSD and severe myopathy. (PMID:17657808)
• mRNA expression is closely related to individual and regional differences in adipocyte size; impaired insulin sensitivity is associated with decreased aadipose triglyceride lipase mRNA expression. (PMID:18072017)
• There is a novel role for PEDF in hepatic triglyceride homeostasis through binding to ATGL. Both localize to adiposomes in hepatocytes. (PMID:18191271)
• ATGL expression in skeletal muscle fibers, slow-twitch, is demonstrated. (PMID:18224330)
• the C-terminal region of ATGL is essential for proper localization of the enzyme and suppresses enzyme activity (PMID:18445597)
• The lack of the C-terminal domain of adipose triglyceride lipase causes neutral lipid storage disease through impaired interactions with lipid droplets. (PMID:18445677)
• Two novel homozygous mutations in exon 5 of PNPLA2 gene were found in patients with neutral lipid storage disease associated with myopathy. (PMID:18952067)
• review of adipose triglyceride lipase and the lipolytic catabolism of cellular fat stores [review] (PMID:18952573)
• Review focuses on the importance of ATGL as TG lipase within the “lipolytic machinery” and the current knowledge of molecular mechanisms that regulate ATGL activity. (PMID:19010445)
• Chanarin-Dorfman syndrome: deficiency in CGI-58, a lipid droplet-bound coactivator of lipase. (Review) (PMID:19061969)
• ATGL in addition to hormone sensitive lipase may be important for human skeletal muscle lipolysis (PMID:19106247)
• No association between genetic variants in PNPLA2 genes and childhood and adolescent obesity (PMID:19390624)
• review summarizes recent findings with the goal of relating structural variants of ATGL and CGI-58 to functional consequences in lipid metabolism [review] (PMID:19401457)
• results suggest that ATGL/CGI-58 acts independently of HSL and precedes its action in the sequential hydrolysis of triglycerides in human hMADS adipocytes (PMID:19433586)
• critical sites in the N-terminal region of desnutrin and the requirement of the C-terminal region for TAG hydrolysis in cultured cells (PMID:19692632)
• TNFalpha decreased ATGL and HSL protein content and triglycerides (TG)-hydrolase activity but increased basal lipolysis due to a marked reduction in perilipin protein content (PMID:19695247)
• The results suggest a molecular pathway by which PEDF ligand/receptor interactions on the cell surface could generate a cellular signal. (PMID:20237999)
• variants within PNPLA2 may modulate the TG component of the familial combined hyperlipidemia trait, thus implicating PNPLA2 as modifier gene in this lipid disorder (PMID:20832801)
• A novel homozygous mutation IVS2+1G > A in the PNPLA2 gene was identified in 2 cases causing neutral lipid storage disease with myopathy (NLSDM.) (PMID:21073837)
• Adipose triglyceride lipase (ATGL) levels were inversely correlated with body mass index and positively correlated with insulin sensitivity index. In muscle, ATGL mRNA had a strong positive relationship with carnitine palmitoyltransferase I mRNA. (PMID:21129760)
• 1 out of 13 healthy individuals carried at least one rare mutation of PNPLA2. (PMID:21170305)
• interaction of ATGL with CGI-58 increased lipolysis, whereas interaction of ATGL with perilipin 5 decreased lipolysis. (PMID:21393244)
• Data indicate that altered ATGL and HSL expression in skeletal muscle could promote DAG accumulation and disrupt insulin signaling and action. (PMID:21498783)
• Resveratrol increased adipose triglyceride lipase gene and protein expressions, an effect that was not observed for hormone-sensitive lipase in human SGBS adipocytes. (PMID:21543206)
• Four novel and two previously reported mutations were detected, affecting different parts of the PNPLA2 gene in 6 patients with neutral lipid storage disease (PMID:21544567)
• findings are compatible with the notion that the ATGL-G0S2 complex is an important long-term regulator of lipolysis under physiological conditions such as fasting in humans (PMID:21613358)
• total lipase, ATGL and HSL activities were higher in visceral white adipose tissue of cancer patients compared with individuals without cancer and higher in cancer patients with cachexia compared with cancer patients without cachexia (PMID:21680814)
• the C terminus sequesters ABHD5 and thus inhibits basal ATGL activity (PMID:21757733)

Cross-species orthologs

3 orthologs

Organism	Symbol	Gene ID
danio_rerio	pnpla2	ENSDARG00000089390
mus_musculus	Pnpla2	ENSMUSG00000025509
rattus_norvegicus	Pnpla2	ENSRNOG00000069673

Paralogs (4): PNPLA4 (ENSG00000006757), PNPLA5 (ENSG00000100341), PNPLA3 (ENSG00000100344), PNPLA1 (ENSG00000180316)

Protein

Protein identifiers

Patatin-like phospholipase domain-containing protein 2 — Q96AD5 (reviewed: Q96AD5)

Alternative names: Adipose triglyceride lipase, Calcium-independent phospholipase A2-zeta, Desnutrin, Pigment epithelium-derived factor receptor, TTS2.2, Transport-secretion protein 2

All UniProt accessions (1): Q96AD5

UniProt curated annotations — full annotation on UniProt →

Function. Catalyzes the initial step in triglyceride hydrolysis in adipocyte and non-adipocyte lipid droplets. Exhibits a strong preference for the hydrolysis of long-chain fatty acid esters at the sn-2 position of the glycerol backbone and acts coordinately with LIPE/HLS and DGAT2 within the lipolytic cascade. Also possesses acylglycerol transacylase and phospholipase A2 activities. Transfers fatty acid from triglyceride to retinol, hydrolyzes retinylesters, and generates 1,3-diacylglycerol from triglycerides. Regulates adiposome size and may be involved in the degradation of adiposomes. Catalyzes the formation of an ester bond between hydroxy fatty acids and fatty acids derived from triglycerides or diglycerides to generate fatty acid esters of hydroxy fatty acids (FAHFAs) in adipocytes. Acts antagonistically with LDAH in regulation of cellular lipid stores. Inhibits LDAH-stimulated lipid droplet fusion. May play an important role in energy homeostasis. May play a role in the response of the organism to starvation, enhancing hydrolysis of triglycerides and providing free fatty acids to other tissues to be oxidized in situations of energy depletion.

Subunit / interactions. Interacts with ABHD5; this association stimulates PNPLA2 triglyceride hydrolase activity. Interacts with SERPINF1; this interaction stimulates the phospholipase A2 activity of PNPLA2. Despite a colocalization in lipid droplets, it probably does not interact with PLIN. Interacts with PLIN5; prevents interaction with ABHD5. Interacts with FAF2.

Subcellular location. Lipid droplet. Cell membrane. Cytoplasm.

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 intensity, in the inner segments of photoreceptors and in the ganglion cell layer of the neural retina (at protein level).

Post-translational modifications. Phosphorylation at Ser-404 by PKA is increased during fasting and moderate intensity exercise, and moderately increases lipolytic activity. Phosphorylation at Ser-404 is increased upon beta-adrenergic stimulation. Ubiquitinated by PEX2 in response to reactive oxygen species (ROS), leading to its degradation. Ubiquitination is stimulated by LDAH.

Disease relevance. Genetic variations in PNPLA2 may be associated with risk of diabetes mellitus type 2. Neutral lipid storage disease with myopathy (NLSDM) [MIM:610717] Neutral lipid storage disorder (NLSD) with myopathy but without ichthyosis. NLSDs are characterized by the presence of triglyceride-containing cytoplasmic droplets in leukocytes and in other tissues, including bone marrow, skin, and muscle. Individuals with NLSDM did not show obesity, in spite of a defect in triglyceride degradation in fibroblasts and in marked triglyceride storage in liver, muscles, and other visceral cells. The disease is caused by variants affecting the gene represented in this entry.

Activity regulation. The triglyceride lipase activity is inhibited by BEL ((E)-6-(bromomethylene)-3-(1-naphthalenyl)-2H-tetrahydropyran-2-one), a suicide substrate inhibitor. No differences in the acylglycerol transacylase was detected in the presence or absence of ATP.

Pathway. Glycerolipid metabolism; triacylglycerol degradation.

Polymorphism. Genetic variations in PNPLA2 may influence plasma free fatty acids and triglycerides levels, and fasting glucose concentrations.

Isoforms (2)

UniProt ID	Names	Canonical?
Q96AD5-1	1	yes
Q96AD5-2	2

RefSeq proteins (1): NP_065109* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR002641	PNPLA_dom	Domain
IPR016035	Acyl_Trfase/lysoPLipase	Homologous_superfamily
IPR033562	PLPL	Family
IPR033903	PNPLA2	Domain

Pfam: PF01734

Catalyzed reactions (Rhea), 12 shown:

• a triacylglycerol + H2O = a diacylglycerol + a fatty acid + H(+) (RHEA:12044)
• a 1,2-diacyl-sn-glycero-3-phosphocholine + H2O = a 1-acyl-sn-glycero-3-phosphocholine + a fatty acid + H(+) (RHEA:15801)
• a triacylglycerol + H2O = a 1,2-diacylglycerol + a fatty acid + H(+) (RHEA:35667)
• 2 1-(9Z-octadecenoyl)-glycerol = 1,2-di-(9Z-octadecenoyl)-glycerol + glycerol (RHEA:38323)
• 1-(9Z-octadecenoyl)-glycerol + 1,2-di-(9Z-octadecenoyl)-glycerol = 1,2,3-tri-(9Z-octadecenoyl)-glycerol + glycerol (RHEA:38327)
• 1-(9Z-octadecenoyl)-glycerol + 1,3-di-(9Z-octadecenoyl)-glycerol = 1,2,3-tri-(9Z-octadecenoyl)-glycerol + glycerol (RHEA:38331)
• 1,2-di-(9Z-octadecenoyl)-glycerol + (9Z)-octadecenoate + H(+) = 1,2,3-tri-(9Z-octadecenoyl)-glycerol + H2O (RHEA:38379)
• 1,2,3-tri-(9Z-octadecenoyl)-glycerol + H2O = 1,3-di-(9Z-octadecenoyl)-glycerol + (9Z)-octadecenoate + H(+) (RHEA:38387)
• 1,2,3-tri-(9Z-octadecenoyl)-glycerol + H2O = 2,3-di-(9Z)-octadecenoyl-sn-glycerol + (9Z)-octadecenoate + H(+) (RHEA:38391)
• 1,2,3-tri-(9Z)-hexadecenoylglycerol + H2O = 1,3-di-(9Z)-hexadecenoylglycerol + (9Z)-hexadecenoate + H(+) (RHEA:38395)
• 1,2,3-tri-(9Z)-hexadecenoylglycerol + H2O = 2,3-di-(9Z)-hexadecenoyl-sn-glycerol + (9Z)-hexadecenoate + H(+) (RHEA:38399)
• 1,2,3-tri-(9Z,12Z)-octadecadienoylglycerol + H2O = 1,3-di-(9Z,12Z)-octadecadienoylglycerol + (9Z,12Z)-octadecadienoate + H(+) (RHEA:38403)

UniProt features (35 total): sequence conflict 6, topological domain 5, transmembrane region 4, sequence variant 4, short sequence motif 3, modified residue 3, active site 2, mutagenesis site 2, chain 1, domain 1, region of interest 1, glycosylation site 1, cross-link 1, splice variant 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q96AD5-F1	72.56	0.36

Functional residue map

Curated UniProt residues grouped by drug-discovery relevance — catalytic, ligand-binding, modification, and mutation-validated positions. Source: UniProtKB sequence features.

Catalytic / active sites (2): 47 (nucleophile); 166 (proton acceptor)

Post-translational modifications (4): 372, 404, 428, 92

Glycosylation sites (1): 39

Mutagenesis-validated functional residues (2):

Position	Phenotype
47	reduces rate of lipid hydrolysis; does not affect the localization around the rim of the adiposomes.
92	abolished ubiquitination by pex2.

Function

Pathways and Gene Ontology

Reactome pathways

4 pathways

ID	Pathway
R-HSA-1482883	Acyl chain remodeling of DAG and TAG
R-HSA-381426	Regulation of Insulin-like Growth Factor (IGF) transport and uptake by Insulin-like Growth Factor Binding Proteins (IGFBPs)
R-HSA-8957275	Post-translational protein phosphorylation
R-HSA-9841922	MLL4 and MLL3 complexes regulate expression of PPARG target genes in adipogenesis and hepatic steatosis

MSigDB gene sets: 320 (showing top): GSE18804_SPLEEN_MACROPHAGE_VS_COLON_TUMORAL_MACROPHAGE_DN, GOBP_ACYLGLYCEROL_HOMEOSTASIS, GOBP_REGULATION_OF_LIPID_STORAGE, GOBP_REGULATION_OF_TRIGLYCERIDE_METABOLIC_PROCESS, GCANCTGNY_MYOD_Q6, GRAESSMANN_APOPTOSIS_BY_DOXORUBICIN_UP, GOBP_REGULATION_OF_HORMONE_LEVELS, GOBP_RETINOL_METABOLIC_PROCESS, COUP_01, GOBP_LIPID_HOMEOSTASIS, GOBP_GLYCEROLIPID_METABOLIC_PROCESS, GTGCCTT_MIR506, MARTINEZ_RB1_TARGETS_UP, GOBP_REGULATION_OF_LIPID_METABOLIC_PROCESS, UEDA_PERIFERAL_CLOCK

GO Biological Process (17): diacylglycerol biosynthetic process (GO:0006651), phototransduction, visible light (GO:0007603), negative regulation of triglyceride storage (GO:0010891), positive regulation of triglyceride catabolic process (GO:0010898), triglyceride catabolic process (GO:0019433), lipid storage (GO:0019915), intracellular triglyceride homeostasis (GO:0035356), acylglycerol acyl-chain remodeling (GO:0036155), lipid homeostasis (GO:0055088), lipid droplet fusion (GO:0160077), lipid droplet disassembly (GO:1905691), retinoid metabolic process (GO:0001523), lipid metabolic process (GO:0006629), acylglycerol metabolic process (GO:0006639), lipid catabolic process (GO:0016042), lipid droplet organization (GO:0034389), retinol metabolic process (GO:0042572)

GO Molecular Function (9): lipoprotein lipase activity (GO:0004465), A2-type glycerophospholipase activity (GO:0004623), triacylglycerol lipase activity (GO:0004806), acylglycerol O-acyltransferase activity (GO:0016411), retinyl-palmitate esterase activity (GO:0050253), mono-olein transacylation activity (GO:0051264), diolein transacylation activity (GO:0051265), protein binding (GO:0005515), hydrolase activity (GO:0016787)

GO Cellular Component (8): nucleoplasm (GO:0005654), cytoplasm (GO:0005737), endoplasmic reticulum lumen (GO:0005788), endoplasmic reticulum membrane (GO:0005789), lipid droplet (GO:0005811), cytosol (GO:0005829), plasma membrane (GO:0005886), membrane (GO:0016020)

Reactome top-level categories

Rollup of top-4 pathways:

Category	Pathways
Glycerophospholipid biosynthesis	1
Metabolism of proteins	1
Post-translational protein modification	1
Epigenetic regulation of adipogenesis genes by MLL3 and MLL4 complexes	1

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
cellular anatomical structure	4
carboxylic ester hydrolase activity	3
lipid droplet organization	2
acylglycerol O-acyltransferase activity	2
diacylglycerol metabolic process	1
acylglycerol biosynthetic process	1
phototransduction	1
detection of visible light	1
negative regulation of lipid storage	1
regulation of triglyceride storage	1
triglyceride storage	1
regulation of triglyceride catabolic process	1
triglyceride catabolic process	1
positive regulation of lipid catabolic process	1
positive regulation of triglyceride metabolic process	1
triglyceride metabolic process	1
acylglycerol catabolic process	1
nutrient storage	1
intracellular chemical homeostasis	1
triglyceride homeostasis	1
acylglycerol metabolic process	1
chemical homeostasis	1
organelle fusion	1
organelle disassembly	1
diterpenoid metabolic process	1
primary metabolic process	1
neutral lipid metabolic process	1
glycerolipid metabolic process	1
lipid metabolic process	1
catabolic process	1
organelle organization	1
retinoid metabolic process	1
primary alcohol metabolic process	1
hormone metabolic process	1
olefinic compound metabolic process	1
triacylglycerol lipase activity	1
glycerophospholipase activity	1
lipase activity	1
acyltransferase activity, transferring groups other than amino-acyl groups	1
retinol metabolic process	1

Protein interactions and networks

STRING

1966 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
PNPLA2	ABHD5	Q8WTS1	999
PNPLA2	PLIN5	Q00G26	984
PNPLA2	LIPE	Q05469	968
PNPLA2	PLIN1	O60240	943
PNPLA2	G0S2	P27469	886
PNPLA2	PLIN2	Q99541	850
PNPLA2	SREBF1	P36956	846
PNPLA2	PLIN3	O60664	829
PNPLA2	FAF2	Q96CS3	819
PNPLA2	MGLL	Q99685	801
PNPLA2	DGAT1	O75907	793
PNPLA2	UCP1	P25874	770
PNPLA2	CIDEA	O60543	770
PNPLA2	PPARG	P37231	768
PNPLA2	PPARA	Q07869	768

IntAct

29 interactions, top by confidence:

A	B	Type	Score
EGFR	PNPLA2	psi-mi:“MI:0915”(physical association)	0.550
ALOX5	DDHD2	psi-mi:“MI:0914”(association)	0.530
GIMAP2	STOM	psi-mi:“MI:0914”(association)	0.530
SMAD9	PNPLA2	psi-mi:“MI:0915”(physical association)	0.370
UBE2R2	PNPLA2	psi-mi:“MI:0915”(physical association)	0.370
PNPLA2	PEX14	psi-mi:“MI:0914”(association)	0.350
	TMEM223	psi-mi:“MI:0914”(association)	0.350
PTGES3	SBNO1	psi-mi:“MI:0914”(association)	0.350
SCGB2A2	RTL8C	psi-mi:“MI:0914”(association)	0.350
ZHX1-C8orf76	FANCG	psi-mi:“MI:0914”(association)	0.350
G0S2	OIP5	psi-mi:“MI:0914”(association)	0.350
B4GALT2	LENG9	psi-mi:“MI:0914”(association)	0.350
PLEKHG7	MROH6	psi-mi:“MI:0914”(association)	0.350
D2HGDH	ZSWIM8	psi-mi:“MI:0914”(association)	0.350
SULT1C4	ZSWIM8	psi-mi:“MI:0914”(association)	0.350
SF3B3	MYO9A	psi-mi:“MI:0914”(association)	0.350
CIAO2A		psi-mi:“MI:0914”(association)	0.350
F12		psi-mi:“MI:0914”(association)	0.350
CTAG1A	PER1	psi-mi:“MI:0914”(association)	0.350
G0S2	UGT8	psi-mi:“MI:0914”(association)	0.350
ASB14	TOMM40	psi-mi:“MI:0914”(association)	0.350
FKBP5	EL52	psi-mi:“MI:0914”(association)	0.350
ppk	PNPLA2	psi-mi:“MI:0915”(physical association)	0.000
PHYHIP	PNPLA2	psi-mi:“MI:0915”(physical association)	0.000
MARK3	PNPLA2	psi-mi:“MI:0915”(physical association)	0.000

BioGRID (69): ABHD5 (FRET), PNPLA2 (PCA), PNPLA2 (Affinity Capture-Western), PNPLA2 (Affinity Capture-MS), PEX14 (Affinity Capture-MS), TXNRD2 (Affinity Capture-MS), C19orf52 (Affinity Capture-MS), PNPLA2 (Affinity Capture-Western), RFWD2 (Affinity Capture-Western), PNPLA2 (Affinity Capture-RNA), PNPLA2 (Two-hybrid), PNPLA2 (Two-hybrid), PNPLA2 (Affinity Capture-MS), PNPLA2 (Affinity Capture-MS), PNPLA2 (Affinity Capture-MS)

ESM2 similar proteins: A3KN25, B6CZ46, O70418, O75783, O89047, O95838, P0C548, P20350, P29597, P35125, P41234, P49897, P49898, P58872, P58873, P86243, Q08755, Q08DF2, Q15477, Q2KI18, Q3U1Y4, Q3V016, Q4R6Y5, Q5XIL6, Q6GPH6, Q6QN11, Q80Y86, Q810M5, Q8BJ56, Q8BSD4, Q8CFA6, Q8CIP5, Q8CJI3, Q8K0H7, Q8NE63, Q8NFK1, Q8TD08, Q8VC82, Q8WP28, Q8WVZ1

Diamond homologs: P0C548, P41247, Q11186, Q2KI18, Q32LZ8, Q3V1D5, Q7Z6Z6, Q8BJ56, Q8N8W4, Q91WW7, Q96AD5, Q9NST1

SIGNOR signaling

0 interactions.

Disease & clinical

Clinical variants and AI predictions

ClinVar

640 variants total. Per-class counts are floors (≥ shown; pagination cap):

Classification	Count (floor)
Pathogenic	29
Likely pathogenic	6
Uncertain significance	286
Likely benign	242
Benign	18

Top pathogenic / likely-pathogenic (30)

Variant ID	HGVS	Classification
1071091	NM_020376.4(PNPLA2):c.999del (p.Ala333_Met334insTer)	Pathogenic
1454498	NM_020376.4(PNPLA2):c.903del (p.Ala302fs)	Pathogenic
1454689	NM_020376.4(PNPLA2):c.440del (p.Phe147fs)	Pathogenic
1456930	NM_020376.4(PNPLA2):c.856_877del (p.Asp286fs)	Pathogenic
1873	NM_020376.4(PNPLA2):c.808del (p.His270fs)	Pathogenic
1874	NM_020376.4(PNPLA2):c.584C>T (p.Pro195Leu)	Pathogenic
1875	NM_020376.4(PNPLA2):c.847del (p.Gln283fs)	Pathogenic
1876	NM_020376.4(PNPLA2):c.865C>T (p.Gln289Ter)	Pathogenic
2735395	NM_020376.4(PNPLA2):c.231_232insGGGTGGAGACGGGGTTTCGCTGTGTTGGCCGGGCTGGTCTCCAGCTCCTAACCGCGAGTGATCCGCCAGCCTCGNNNNNNNNNNAAAAAAAAAAAAAAAAAAAAAAAGAGGCCCGG (p.Lys78delinsGlyTrpArgArgGlyPheAlaValLeuAlaGlyLeuValSerSerSerTer)	Pathogenic
2757371	NM_020376.4(PNPLA2):c.63C>G (p.Tyr21Ter)	Pathogenic
2900685	NM_020376.4(PNPLA2):c.245G>A (p.Gly82Asp)	Pathogenic
3256770	NM_020376.4(PNPLA2):c.24G>A (p.Trp8Ter)	Pathogenic
3626964	NM_020376.4(PNPLA2):c.1105C>T (p.Gln369Ter)	Pathogenic
3651821	NM_020376.4(PNPLA2):c.875del (p.Gly292fs)	Pathogenic
3721929	NM_020376.4(PNPLA2):c.132C>G (p.Tyr44Ter)	Pathogenic
39865	NM_020376.4(PNPLA2):c.757+2T>C	Pathogenic
39866	NM_020376.4(PNPLA2):c.749A>C (p.Gln250Pro)	Pathogenic
39867	NM_020376.4(PNPLA2):c.757+1G>T	Pathogenic
39868	NM_020376.4(PNPLA2):c.467del (p.Pro156fs)	Pathogenic
4696746	NM_020376.4(PNPLA2):c.695del (p.Leu232fs)	Pathogenic
4748105	NM_020376.4(PNPLA2):c.1094G>A (p.Trp365Ter)	Pathogenic
4762000	NC_000011.10:g.821628del	Pathogenic
567557	NM_020376.4(PNPLA2):c.1043del (p.Phe348fs)	Pathogenic
65419	NM_020376.4(PNPLA2):c.613dup (p.Leu205fs)	Pathogenic
65420	NM_020376.4(PNPLA2):c.543del (p.Ile182fs)	Pathogenic
65421	NM_020376.4(PNPLA2):c.475_478dup (p.Gln160fs)	Pathogenic
663841	NM_020376.4(PNPLA2):c.662G>C (p.Arg221Pro)	Pathogenic
871450	NM_020376.4(PNPLA2):c.799del (p.Ala267fs)	Pathogenic
944262	NM_020376.4(PNPLA2):c.798dup (p.Ala267fs)	Pathogenic
1065631	NM_020376.4(PNPLA2):c.758-1G>C	Likely pathogenic

SpliceAI

1303 predictions. Top by Δscore:

Variant	Effect	Δscore
11:821623:CCCAG:C	acceptor_loss	1.0000
11:821624:CCAGG:C	acceptor_loss	1.0000
11:821625:CAG:C	acceptor_loss	1.0000
11:821846:G:GT	donor_gain	1.0000
11:821948:T:TA	acceptor_gain	1.0000
11:822384:T:TA	acceptor_gain	1.0000
11:822389:C:A	acceptor_gain	1.0000
11:822391:T:TA	acceptor_gain	1.0000
11:822392:G:A	acceptor_gain	1.0000
11:822604:CTGG:C	donor_loss	1.0000
11:822605:TGG:T	donor_loss	1.0000
11:822607:G:GC	donor_loss	1.0000
11:822607:G:GG	donor_gain	1.0000
11:822608:T:A	donor_loss	1.0000
11:822663:G:GT	donor_gain	1.0000
11:823686:A:AG	acceptor_gain	1.0000
11:823687:A:G	acceptor_gain	1.0000
11:823688:C:G	acceptor_gain	1.0000
11:823688:CCCCA:C	acceptor_loss	1.0000
11:823689:CCCAG:C	acceptor_loss	1.0000
11:823690:CCAG:C	acceptor_loss	1.0000
11:823691:CAGG:C	acceptor_loss	1.0000
11:823692:A:AC	acceptor_loss	1.0000
11:823692:A:AG	acceptor_gain	1.0000
11:823692:AG:A	acceptor_gain	1.0000
11:823693:G:GT	acceptor_gain	1.0000
11:823693:GG:G	acceptor_gain	1.0000
11:823693:GGC:G	acceptor_gain	1.0000
11:823693:GGCC:G	acceptor_gain	1.0000
11:823693:GGCCT:G	acceptor_gain	1.0000

AlphaMissense

3229 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
11:821793:T:C	L118P	0.998
11:821976:T:C	F147L	0.998
11:821978:C:A	F147L	0.998
11:821978:C:G	F147L	0.998
11:822400:T:G	Y164D	0.998
11:822564:C:A	N218K	0.998
11:822564:C:G	N218K	0.998
11:823572:T:C	F248L	0.998
11:823574:T:A	F248L	0.998
11:823574:T:G	F248L	0.998
11:819767:T:C	F17L	0.997
11:819769:C:A	F17L	0.997
11:819769:C:G	F17L	0.997
11:819863:G:T	G49W	0.997
11:821799:G:C	R120P	0.997
11:821995:G:A	G153E	0.997
11:822410:G:A	G167D	0.997
11:822455:T:A	I182N	0.997
11:822469:T:C	F187L	0.997
11:822471:C:A	F187L	0.997
11:822471:C:G	F187L	0.997
11:822572:G:C	R221P	0.997
11:823573:T:C	F248S	0.997
11:819876:C:A	A53D	0.996
11:821796:C:T	T119I	0.996
11:821969:C:G	C144W	0.996
11:821970:A:C	S145R	0.996
11:821972:C:A	S145R	0.996
11:821972:C:G	S145R	0.996
11:822407:A:T	D166V	0.996

dbSNP variants (sampled 300 via entrez): RS1000026225 (11:818762 T>G), RS1000058934 (11:824186 C>A,T), RS1000713953 (11:819468 G>A), RS1000810769 (11:819294 T>G), RS1001376421 (11:824412 A>G), RS1001814268 (11:820292 C>A,T), RS1002080938 (11:819564 G>A,C,T), RS1002325221 (11:825485 G>T), RS1002720793 (11:822096 A>G), RS1002748751 (11:817401 C>T), RS1003491901 (11:817074 A>C,G), RS1003642482 (11:822357 A>C,G), RS1004095811 (11:822060 G>T), RS1004102743 (11:817225 G>A,C,T), RS1004118993 (11:822137 C>A,T)

Disease associations

OMIM: gene MIM:609059 | disease phenotypes: MIM:610717

GenCC curated gene-disease

Disease	Classification	Inheritance
neutral lipid storage myopathy	Strong	Autosomal recessive

ClinGen Gene-Disease Validity (1)

Expert-panel classifications — Definitive > Strong > Moderate > Limited > Disputed > Refuted.

Disease	Classification	Inheritance
neutral lipid storage myopathy	Definitive	AR

Mondo (2): neutral lipid storage myopathy (MONDO:0012545), myopathy (MONDO:0005336)

Orphanet (1): Neutral lipid storage disease with myopathy (Orphanet:98908)

HPO phenotypes

71 total (30 of 71 shown, HPO-id order):

HPO	Term
HP:0000007	Autosomal recessive inheritance
HP:0000252	Microcephaly
HP:0000365	Hearing impairment
HP:0000407	Sensorineural hearing impairment
HP:0000467	Neck muscle weakness
HP:0000478	Abnormality of the eye
HP:0000819	Diabetes mellitus
HP:0001082	Cholecystitis
HP:0001249	Intellectual disability
HP:0001252	Hypotonia
HP:0001256	Mild intellectual disability
HP:0001270	Motor delay
HP:0001284	Areflexia
HP:0001288	Gait disturbance
HP:0001290	Generalized hypotonia
HP:0001397	Hepatic steatosis
HP:0001430	Abnormal calf musculature morphology
HP:0001435	Abnormality of the shoulder girdle musculature
HP:0001513	Obesity
HP:0001635	Congestive heart failure
HP:0001638	Cardiomyopathy
HP:0001677	Coronary artery atherosclerosis
HP:0001681	Angina pectoris
HP:0001733	Pancreatitis
HP:0001744	Splenomegaly
HP:0001922	Vacuolated lymphocytes
HP:0001962	Palpitations
HP:0002094	Dyspnea
HP:0002155	Hypertriglyceridemia
HP:0002240	Hepatomegaly

GWAS associations

19 associations (top):

Study	Trait	p-value
GCST007293_140	Body fat distribution (arm fat ratio)	9.000000e-07
GCST007293_42	Body fat distribution (arm fat ratio)	7.000000e-11
GCST007293_98	Body fat distribution (arm fat ratio)	2.000000e-07
GCST009677_2	Keratoconus	5.000000e-11
GCST010242_132	HDL cholesterol levels	2.000000e-12
GCST012226_337	Waist circumference adjusted for body mass index	2.000000e-08
GCST012228_402	Waist-hip index	1.000000e-09
GCST012228_403	Waist-hip index	3.000000e-08
GCST012230_75	Waist-to-hip ratio adjusted for BMI	2.000000e-09
GCST012231_104	A body shape index	7.000000e-09
GCST90013442_17	Keratoconus	1.000000e-26
GCST90020024_375	A body shape index	3.000000e-08
GCST90020024_376	A body shape index	4.000000e-09
GCST90020025_1186	Waist-to-hip ratio adjusted for BMI	4.000000e-09
GCST90020025_1187	Waist-to-hip ratio adjusted for BMI	5.000000e-17
GCST90020026_782	Hip index	6.000000e-09
GCST90020027_1438	Waist-hip index	2.000000e-09
GCST90020027_1439	Waist-hip index	7.000000e-17
GCST90020028_784	Hip circumference adjusted for BMI	9.000000e-09

EFO canonical traits (5, from GWAS)

EFO ID	Trait name
EFO:0004341	body fat distribution
EFO:0004612	high density lipoprotein cholesterol measurement
EFO:0007789	BMI-adjusted waist circumference
EFO:0007788	BMI-adjusted waist-hip ratio
EFO:0008039	BMI-adjusted hip circumference

Drugs & pharmacology

Drug and pharmacology data

Is drug target: yes

ChEMBL targets (2): CHEMBL3822353 (SINGLE PROTEIN), CHEMBL5483085 (PROTEIN-PROTEIN INTERACTION)

PharmGKB: 1 entry (VIP=true, CPIC=false)

GtoPdb / IUPHAR curated pharmacology

(IUPHAR/BPS Guide to Pharmacology — expert-curated)

Target class: enzyme — Hydrolases & Lipases

Most potent curated ligand interactions (3 total), top 3:

Ligand	Action	Affinity	Parameter
pigment epithelium-derived factor	Binding	8.52	pKd
PDEF(98-114)H105A	Binding	7.15	pKd
atglistatin	Inhibition	6.15	pIC50

ChEMBL bioactivities

3 potent at pChembl≥5 of 3 total, top 3 by pChembl (potency: 10 = 0.1 nM, 6 = 1 µM).

pChembl	Type	Value	Unit	Molecule
10.77	Ki	0.017	nM	CHEMBL2048872
7.51	Ki	31	nM	NUCIFERINE
6.16	IC50	700	nM	CHEMBL3823931

PubChem BioAssay actives

3 with measured affinity, of 44 total; 3 most potent distinct compounds. Largely complementary to BindingDB; screening values are coarse (µM, 4 dp), so sub-nM hits tie at the floor.

Compound	Assay	Type	Value	Unit
(5Z)-5-[[2-[(3R)-3-aminopiperidin-1-yl]-3-phenylphenyl]methylidene]-1,3-thiazolidine-2,4-dione	2074092: Inhibition of ATGL ubiquitination in human HepG2 cells assessed as inhibition constant	ki	<0.0001	uM
(6aR)-1,2-dimethoxy-6-methyl-5,6,6a,7-tetrahydro-4H-dibenzo[de,g]quinoline	2074092: Inhibition of ATGL ubiquitination in human HepG2 cells assessed as inhibition constant	ki	0.0310	uM
3-[3-[4-(dimethylamino)phenyl]phenyl]-1,1-dimethylurea	1310988: Inhibition of ATGL (unknown origin) overexpressed in Escherichia coli XL-1 cells using [9,10-3H(N)]triolein as substrate incubated for 60 mins by liquid scintillation counting method	ic50	0.7000	uM

CTD chemical–gene interactions

60 total (human), top 30 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
sodium arsenite	decreases expression, increases expression	3
Air Pollutants	increases abundance, decreases expression, increases expression, affects expression	3
Benzo(a)pyrene	affects cotreatment, increases expression, decreases expression, decreases methylation	3
nuciferine	decreases expression, decreases reaction, increases expression	2
Dexamethasone	increases expression, affects cotreatment	2
Particulate Matter	decreases expression, increases abundance, increases expression	2
aristolochic acid I	increases expression	1
afuresertib	increases expression	1
FR900359	increases phosphorylation	1
bisphenol F	increases expression	1
bufotalin	increases expression	1
triphenyl phosphate	affects expression	1
pirinixic acid	decreases expression, decreases localization, decreases reaction	1
benzo(b)fluoranthene	affects cotreatment, increases expression	1
bisphenol A	increases expression	1
tributyltin	affects cotreatment, increases expression	1
cobaltous chloride	decreases expression	1
caryophyllene	increases expression	1
potassium chromate(VI)	increases expression, affects cotreatment	1
benz(a)anthracene	affects cotreatment, increases expression	1
chrysene	affects cotreatment, increases expression	1
2-chloroethyl ethyl sulfide	affects binding, decreases reaction, increases expression	1
1,3-dichloro-2-propanol	decreases expression, decreases localization, decreases reaction	1
dicyclohexyl phthalate	decreases expression	1
epigallocatechin gallate	affects cotreatment, increases expression	1
di-n-butylphosphoric acid	affects expression	1
perfluoro-n-nonanoic acid	decreases expression	1
corosolic acid	increases expression	1
nickel acetate	affects expression	1
bisphenol B	increases expression	1

ChEMBL screening assays

5 unique, capped per target: 5 binding

Representative assays (with source publication via chembl_document):

Assay ID	Type	Description	Source paper
CHEMBL3826543	Binding	Inhibition of ATGL (unknown origin) overexpressed in Escherichia coli XL-1 cells using [9,10-3H(N)]triolein as substrate incubated for 60 mins by liquid scintillation counting method	New Atglistatin closely related analogues: Synthesis and structure-activity relationship towards adipose triglyceride lipase inhibition. — Eur J Med Chem

Cellosaurus cell lines

7 cell lines: 7 cancer cell line

First 10 cell lines (id-ordered, not curated):

Cellosaurus	Name	Category	Sex
CVCL_E2GY	HAP1 PNPLA2 (-) 3	Cancer cell line	Male
CVCL_E2GZ	HAP1 PNPLA2 (-) 4	Cancer cell line	Male
CVCL_E2H0	HAP1 PNPLA2 (-) 5	Cancer cell line	Male
CVCL_E2H1	HAP1 PNPLA2 (-) 6	Cancer cell line	Male
CVCL_TE79	HAP1 PNPLA2 (-) 1	Cancer cell line	Male
CVCL_UJ32	A549 ATGL-KO	Cancer cell line	Male
CVCL_XR69	HAP1 PNPLA2 (-) 2	Cancer cell line	Male

Clinical trials (associated diseases)

47 trials via MONDO — disease-level, not drug-specific.

Trial	Phase	Status	Title
NCT00120055	PHASE4	COMPLETED	Association Between Systemic Exposure of Atorvastatin and Metabolites and Atorvastatin-induced Myotoxicity
NCT03633565	PHASE4	UNKNOWN	Comparative Study of Strategies for Management of Duchenne Myopathy (DM)
NCT01225614	PHASE3	UNKNOWN	Efficacy and Tolerance of Early Launching of Nocturnal Non Invasive
NCT00278564	PHASE1	TERMINATED	Stem Cell Transplantation in Idiopathic Inflammatory Myopathy Diseases
NCT02830763	Not specified	TERMINATED	Clinical Study on the Safety of CNT-02 for TGCV and NLSD-M
NCT01642056	PHASE1/PHASE2	COMPLETED	EPI-743 for Metabolism or Mitochondrial Disorders
NCT02124070	PHASE1/PHASE2	WITHDRAWN	Therapeutic Effect of Recombinant Human Growth Hormone (rhGH) on the Myopathy of Cystinosis
NCT00549029	Not specified	UNKNOWN	The Association of Genetic Polymorphisms With Statin-Induced Myopathy.
NCT00767130	Not specified	UNKNOWN	DNA Diagnostic System for Statin Safety and Efficacy
NCT00922428	Not specified	COMPLETED	PASCOE-Agil HOM-Injektopas in the Treatment of Rheumatic Disorders
NCT00937001	Not specified	ACTIVE_NOT_RECRUITING	Critical Illness Myopathy as a Cause of Debilitating ICU-Acquired Weakness
NCT00990834	Not specified	WITHDRAWN	Muscle Characteristics Associated With Statin Therapy
NCT01022450	Not specified	UNKNOWN	Study of the Causes of the Breakdown of Muscle Fibers in Hospitalized Patients
NCT01040650	Not specified	TERMINATED	Metabolic Features of Post-Myopathy Patients Associated With Statin Treatment
NCT01047163	Not specified	COMPLETED	Maintenance of Muscle Mass in Older People: the Negative Impact of Statin Therapy
NCT01270269	Not specified	COMPLETED	ACT-ICU Study: Activity and Cognitive Therapy in the Intensive Care Unit
NCT01353430	Not specified	RECRUITING	Characterization of Inclusion Body Myopathy Associated With Paget’s Disease of Bone and Frontotemporal Dementia (IBMPFD)
NCT01395563	Not specified	WITHDRAWN	Strength Training on Pancreatic Cancer
NCT01530841	Not specified	COMPLETED	Efficacy and Tolerance of AVAPS Mode in Myotonic Dystrophy
NCT01547767	Not specified	COMPLETED	Investigations Into ISCU Myopathy or Iron Sulfur Scaffold U Protein Myopathy
NCT01702987	Not specified	COMPLETED	Evaluation of Ubiquinol on Mitochondrial Oxidative Capacity in Statin Patients Using 31PMRS
NCT01790178	Not specified	COMPLETED	Ultrasound in Muscle Biopsy
NCT02011282	Not specified	COMPLETED	Electro-Neuro-Muscular Stimulation in ICU
NCT02104921	Not specified	COMPLETED	Innovative Ultrasound Technology in Neuromuscular Disease
NCT02118805	Not specified	COMPLETED	Innovative Measures of Speech and Swallowing Dysfunction in Neurological Disorders
NCT02235220	Not specified	UNKNOWN	Reduction of Masticatory Muscle Activity by Restoring Canine Guidance
NCT02247895	Not specified	TERMINATED	Treatment of Muscle Weakness in Critically Ill Patients
NCT02315339	Not specified	TERMINATED	European Home Mechanical Ventilation Registry
NCT02442986	Not specified	COMPLETED	Neurological Outcome in Surgical and Non-surgical Septic Patients
NCT02706314	Not specified	COMPLETED	Impact of Human Blood Serum From Critically Ill Patients on Human Colon Neuronal Networks.
NCT02765828	Not specified	COMPLETED	Identification of Tongue Involvement in Late-Onset Pompe Disease
NCT03042286	Not specified	UNKNOWN	SAPhIRE Statin Adverse Drug Reaction
NCT03141749	Not specified	COMPLETED	Venous Thromboembolism in DM1
NCT03660969	Not specified	ACTIVE_NOT_RECRUITING	Reliability of Cardiac Troponins for the Diagnosis of Myocardial Infarction in the Presence of Skeletal Muscle Disease
NCT03749538	Not specified	RECRUITING	Acute Transcranial Direct Current Stimulation in Patients With Systemic Autoimmune Myopathies
NCT03751644	Not specified	COMPLETED	Peripherical Neuromuscular Electrical Stimulation in Systemic Autoimmune Myopathies
NCT03998540	Not specified	UNKNOWN	Improvement of DIAgnostic and Phenotype-genotype Correlation Studies in Patients With MYOpathy Suspected of TITinopathy
NCT04678635	Not specified	RECRUITING	Chronic Transcranial Direct Current Stimulation in Patients With Systemic Autoimmune Myopathies
NCT04881214	Not specified	UNKNOWN	COVID-19 Pneumonia: Pulmonary Physiology, Health-related Quality of Life and Benefit of a Rehabilitation Program
NCT04941079	Not specified	UNKNOWN	Safety and Efficacy of Inactivated SARS-CoV-2 Vaccine in Immune-related Myopathy (Myasthenia Gravis and Inflammatory Myopathy) Patients ：a Prospective Observational Study