PLIN3

Summary

PLIN3 (perilipin 3, HGNC:16893) is a protein-coding gene on chromosome 19p13.3, encoding Perilipin-3 (O60664). Structural component of lipid droplets, which is required for the formation and maintenance of lipid storage droplets.

Mannose 6-phophate receptors (MPRs) deliver lysosomal hydrolase from the Golgi to endosomes and then return to the Golgi complex. The protein encoded by this gene interacts with the cytoplasmic domains of both cation-independent and cation-dependent MPRs, and is required for endosome-to-Golgi transport. This protein also binds directly to the GTPase RAB9 (RAB9A), a member of the RAS oncogene family. The interaction with RAB9 has been shown to increase the affinity of this protein for its cargo. Multiple transcript variants encoding different isoforms have been found for this gene.

Source: NCBI Gene 10226 — RefSeq curated summary.

At a glance

• GWAS associations: 4
• Clinical variants (ClinVar): 112 total
• Druggable target: yes
• MANE Select transcript: NM_005817

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:16893
Approved symbol	PLIN3
Name	perilipin 3
Location	19p13.3
Locus type	gene with protein product
Status	Approved
Aliases	TIP47, PP17
Ensembl gene	ENSG00000105355
Ensembl biotype	protein_coding
OMIM	602702
Entrez	10226

Gene structure

Transcript identifiers

Ensembl transcripts: 25 — 25 protein_coding

ENST00000221957, ENST00000585479, ENST00000587462, ENST00000589034, ENST00000589163, ENST00000589494, ENST00000592528, ENST00000884460, ENST00000884461, ENST00000884462, ENST00000884463, ENST00000884464, ENST00000884465, ENST00000884466, ENST00000884467, ENST00000928988, ENST00000928989, ENST00000958156, ENST00000958157, ENST00000958158, ENST00000958159, ENST00000958160, ENST00000958161, ENST00000958162, ENST00000958163

RefSeq mRNA: 3 — MANE Select: NM_005817 NM_001164189, NM_001164194, NM_005817

CCDS: CCDS12137, CCDS59337, CCDS59338

Canonical transcript exons

ENST00000221957 — 8 exons

Exon	Start	End
ENSE00000664966	4859590	4859672
ENSE00000664967	4852016	4852301
ENSE00000664968	4847691	4847890
ENSE00000664969	4844668	4844793
ENSE00001207078	4838341	4839536
ENSE00001207105	4867609	4867667
ENSE00003541862	4861329	4861411
ENSE00003688189	4859826	4860024

Expression profiles

Bgee: expression breadth ubiquitous, 288 present calls, max score 99.00.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 39.5421 / max 243.7578, expressed in 1816 samples.

FANTOM5 promoters (3 alternative TSS)

Promoter ID	TPM avg	Samples expressed
178501	33.7744	1814
178500	3.7053	1409
178502	2.0624	1298

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
pharyngeal mucosa	UBERON:0000355	99.00	gold quality
body of tongue	UBERON:0011876	98.23	gold quality
inferior vagus X ganglion	UBERON:0005363	98.21	gold quality
tongue	UBERON:0001723	98.03	gold quality
superior surface of tongue	UBERON:0007371	98.02	gold quality
nipple	UBERON:0002030	97.93	gold quality
jejunal mucosa	UBERON:0000399	96.96	gold quality
esophagus mucosa	UBERON:0002469	96.77	gold quality
lower esophagus mucosa	UBERON:0035834	96.63	gold quality
stromal cell of endometrium	CL:0002255	96.51	gold quality
jejunum	UBERON:0002115	96.29	gold quality
epithelium of esophagus	UBERON:0001976	96.26	gold quality
pericardium	UBERON:0002407	96.26	gold quality
esophagus squamous epithelium	UBERON:0006920	96.24	gold quality
duodenum	UBERON:0002114	96.02	gold quality
right adrenal gland	UBERON:0001233	95.89	gold quality
cervix epithelium	UBERON:0004801	95.86	gold quality
ileal mucosa	UBERON:0000331	95.75	gold quality
subthalamic nucleus	UBERON:0001906	95.65	gold quality
right adrenal gland cortex	UBERON:0035827	95.56	gold quality
penis	UBERON:0000989	95.51	gold quality
left adrenal gland	UBERON:0001234	95.51	gold quality
gastrocnemius	UBERON:0001388	95.50	gold quality
skin of leg	UBERON:0001511	95.50	gold quality
squamous epithelium	UBERON:0006914	95.50	gold quality
upper arm skin	UBERON:0004263	95.48	gold quality
adrenal cortex	UBERON:0001235	95.42	gold quality
ventral tegmental area	UBERON:0002691	95.40	gold quality
left adrenal gland cortex	UBERON:0035825	95.33	gold quality
skin of abdomen	UBERON:0001416	94.98	gold quality

Single-cell (SCXA)

Detected in 4 experiment(s), a significant marker in 3.

Experiment	Marker?	Max mean expression
E-HCAD-31	yes	30.60
E-GEOD-81608	yes	20.78
E-ANND-3	yes	9.03
E-MTAB-6678	no	3.66

Regulation

Is transcription factor: yes

Downstream targets (CollecTRI)

1 targets.

Target	Regulation
CCL5	Activation

miRNA regulators (miRDB)

46 targeting PLIN3, 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-6748-5P	100.00	65.81	1057
HSA-MIR-30A-5P	100.00	76.31	3233
HSA-MIR-30B-5P	100.00	76.29	3248
HSA-MIR-30C-5P	100.00	76.29	3248
HSA-MIR-30D-5P	100.00	76.32	3233
HSA-MIR-30E-5P	100.00	76.32	3242
HSA-MIR-6759-5P	99.99	66.54	785
HSA-MIR-6793-5P	99.97	65.95	758
HSA-MIR-6778-3P	99.96	67.29	2693
HSA-MIR-4487	99.96	64.58	1252
HSA-MIR-3910	99.95	71.13	2227
HSA-MIR-6508-5P	99.92	70.67	2465
HSA-MIR-153-5P	99.89	73.86	6317
HSA-MIR-124-3P	99.89	73.74	3043
HSA-MIR-506-3P	99.89	73.55	3057
HSA-MIR-8067	99.86	69.59	2260
HSA-MIR-1200	99.71	70.42	1838
HSA-MIR-3714	99.71	70.74	2671
HSA-MIR-378A-5P	99.65	66.33	1311
HSA-MIR-10394-5P	99.65	66.83	1852
HSA-MIR-1205	99.65	66.76	1826
HSA-MIR-24-3P	99.59	69.97	1934
HSA-MIR-7106-5P	99.53	67.47	3574
HSA-MIR-6722-3P	99.45	67.62	1919
HSA-MIR-20A-3P	99.44	69.10	1575
HSA-MIR-504-3P	99.30	67.18	1745
HSA-MIR-485-5P	99.10	64.78	1889
HSA-MIR-6884-5P	99.10	64.50	1987
HSA-MIR-4478	99.07	65.16	2320
HSA-MIR-1909-3P	99.03	66.56	1662

Literature-anchored findings (GeneRIF, showing 40)

• can co-localize with lipid storage proteins (PMID:12077142)
• Data show that placental protein 17b (PP17b)is a neutral lipid droplet-associated protein, and its expression is regulated by PKC- and PKA-dependent pathways (PMID:12631276)
• TIP47 binding to HIV-1 envelope glycoprotein (ENV) is required for ENV transport to the trans-golgi network and for its incorportaion into virions and its pathogenicity (PMID:12768012)
• Rab9 GTPase stability on late endosomes required interaction with TIP47 (PMID:15456905)
• TIP47 and adipophilin are components of many, but not all, the lipid droplets in THP-1 cells (PMID:15545278)
• we report the identity of an inhibitor, TIP47, which prevents retinylester hydrolysis catalyzed by GS2 lipase and hormone-sensitive lipase (PMID:16741517)
• Binding of the effector protein TIP47 is important for Rab9 localization. (PMID:16769818)
• The results suggested that the putative hydrophobic cleft is critical for the unique characteristics of TIP47. (PMID:16808905)
• These results show that TIP47 is a cellular cofactor that plays an essential role in Env incorporation, allowing the encounter and the physical association between HIV-1 Gag and Env proteins during the viral assembly process. (PMID:17003132)
• Adipophilin and TIP47 are expressed in LDs of vitamin A-storing hepatic stellate cells and additionally in lipid droplets of steatotic hepatocytes. (PMID:18393390)
• The present results suggest that lipid droplets (LD) and LD-associated proteins have protective effects against apoptosis induced by fatty acid-bound albumin by sequestering free fatty acids. (PMID:18832575)
• TIP47 (tail-interacting protein 47 kD) protein levels directly correlate with triglyceride levels; TIP47 may act as a carrier protein for free fatty acids and in this way participates in conversion of macrophages into foam cells (PMID:19286631)
• VV p37 protein associates with host TIP47, Rab9 and CI-MPR. (PMID:19400954)
• TIP47 has apolipoprotein-like properties and reorganizes liposomes into small lipid discs (PMID:19451273)
• TIP47 is required for the encounter between Gag and Env, and thus for the generation of infectious HIV-1 particles from primary macrophages. (PMID:20070608)
• Suppression of TIP47 in HeLa cells facilitated oxidative-stress-induced cell death. (PMID:20556887)
• PLIN2-PLIN5 proteins were all more abundant in women than in men (p = 0.037 and p < 0.0001, respectively), consistent with higher intramyocellular lipid content in female skeletal muscle. (PMID:22667335)
• TIP47 is here described for the first time as a viral restriction factor that acts by limiting viral protein synthesis. (PMID:23348195)
• TIP47 plays an essential role in the life cycle of hepatitis C virus. (PMID:23354285)
• studies identified the lipid droplet(LD-associated host protein, Tail-Interacting Protein 47 (TIP47) as a novel NS5A interaction partner; data support a model where TIP47-via its interaction with NS5A-serves as a novel cofactor for HCV infection possibly by integrating LD membranes into the membranous web (PMID:23593007)
• PLIN3 is associated with the synthesis and secretion of PGE2 (PMID:23936516)
• Rab9-complexed TIP47 plays an essential role for the proper release of hepatitis C viral particles. (PMID:24480419)
• Skeletal muscle perilipin 3 and coatomer proteins are increased following exercise and are associated with fat oxidation. (PMID:24632837)
• PLIN3 functions are intertwined with the lipogenic pathways implicated in sebaceous lipogenesis, such as desaturation and triglyceride synthesis. (PMID:25039349)
• Following exercise training, perilipin 3 protein expression was increased in the adipose tissue of women with polycystic ovary syndrome. (PMID:25342854)
• Postprandial triglyceride rich lipoproteins may be involved in atherosclerotic plaque formation through the regulation of perilipin-2 and perilipin-3 proteins in macrophages. (PMID:25595097)
• Results indicate that microRNAs miR-148a and miR-30a, regulate Tail interacting protein of 47 kDa (TIP47) expression and lipid droplets (LD) in hepatitis C virus infected cells. (PMID:26170028)
• Differential expression of PLIN3 and brefeldin A sensitivity may explain differential lipid oxidation efficiency in skeletal muscle among healthy lean, sedentary, and T2 diabetic males. (PMID:26171795)
• Conserved amphipathic helices mediate lipid droplet targeting of PLIN1, PLIN2, and PLIN3. (PMID:26742848)
• we found a DPP9-PPP6R3 fusion transcript in one tumor showing a matching genomic 11;19-translocation. Another tumor had a rearrangement of DPP9 with PLIN3. Both rearrangements were associated with diminished expression of the 3’ end of DPP9 corresponding to the breakpoints identified by RNA-seq. (PMID:28893231)
• High PLIN3 expression is associated with clear cell renal cell carcinoma. (PMID:29773494)
• These findings suggest that dual amphipathic helical regions mediate lipid droplets (LD) targeting and underpin the hierarchical binding of Plin1-3 to LDs. (PMID:30649995)
• Adipophilin and perilipin 3 positively correlate with total lipid content in human breast milk. (PMID:31941931)
• A Mammalian Target of Rapamycin-Perilipin 3 (mTORC1-Plin3) Pathway is essential to Activate Lipophagy and Protects Against Hepatosteatosis. (PMID:34233024)
• Suppressed PLIN3 frequently occurs in prostate cancer, promoting docetaxel resistance via intensified autophagy, an event reversed by chloroquine. (PMID:34410522)
• Associations of Perilipin 3 with Insulin Resistance in Arab Adults with Type 2 Diabetes. (PMID:34765049)
• Lipophagy-Related Protein Perilipin-3 and Resistance of Prostate Cancer to Radiation Therapy. (PMID:35121129)
• Structural insights into perilipin 3 membrane association in response to diacylglycerol accumulation. (PMID:37268630)
• Silencing of Perilipin 3 Inhibits Lung Adenocarcinoma Cell Immune Resistance by Regulating the Transcription of PD-L1 Through c-Myc. (PMID:37578465)
• Binding of perilipin 3 to membranes containing diacylglycerol is mediated by conserved residues within its PAT domain. (PMID:37898398)

Cross-species orthologs

5 orthologs

Organism	Symbol	Gene ID
danio_rerio	plin3	ENSDARG00000013711
mus_musculus	Plin3	ENSMUSG00000024197
rattus_norvegicus	Ticam1	ENSRNOG00000048462
rattus_norvegicus		ENSRNOG00000070329
drosophila_melanogaster	Lsd-2	FBGN0030608

Paralogs (4): PLIN2 (ENSG00000147872), PLIN1 (ENSG00000166819), PLIN4 (ENSG00000167676), PLIN5 (ENSG00000214456)

Protein

Protein identifiers

Perilipin-3 — O60664 (reviewed: O60664)

Alternative names: 47 kDa mannose 6-phosphate receptor-binding protein, Cargo selection protein TIP47, Mannose-6-phosphate receptor-binding protein 1, Placental protein 17

All UniProt accessions (6): A0A140VJN8, O60664, K7EJD0, K7EL96, K7ER39, K7ERZ3

UniProt curated annotations — full annotation on UniProt →

Function. Structural component of lipid droplets, which is required for the formation and maintenance of lipid storage droplets. Required for the transport of mannose 6-phosphate receptors (MPR) from endosomes to the trans-Golgi network.

Subunit / interactions. Homooligomer. Interacts with M6PR (via the cytoplasmic domain). Interacts with IGF2R (via the cytoplasmic domain). May exist as a homodimer.

Subcellular location. Lipid droplet. Endosome membrane. Cytoplasm.

Post-translational modifications. Phosphorylation at Tyr-251 by isoform 1 of CHKA (CHKalpha2) promotes dissociation from lipid droplets: dissociation is followed by recruitment of autophagosome machinery to lipid droplets and subsequent lipid droplet lipolysis.

Similarity. Belongs to the perilipin family.

Isoforms (4)

UniProt ID	Names	Canonical?
O60664-1	1, PP17b	yes
O60664-2	2, PP17a
O60664-3	3
O60664-4	4

RefSeq proteins (3): NP_001157661, NP_001157666, NP_005808* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR004279	Perilipin	Family

Pfam: PF03036

UniProt features (27 total): modified residue 13, splice variant 3, sequence variant 2, sequence conflict 2, coiled-coil region 2, initiator methionine 1, chain 1, cross-link 1, region of interest 1, mutagenesis site 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-O60664-F1	69.04	0.15

Functional residue map

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

Post-translational modifications (14): 148, 170, 175, 179, 216, 217, 241, 251, 122, 2, 31, 65, 91, 130

Mutagenesis-validated functional residues (1):

Position	Phenotype
251	abolished phosphorylation at tyr-232 by isoform 1 of chka (chkalpha2).

Function

Pathways and Gene Ontology

Reactome pathways

6 pathways

ID	Pathway
R-HSA-163560	Triglyceride catabolism
R-HSA-6811440	Retrograde transport at the Trans-Golgi-Network
R-HSA-9613354	Lipophagy
R-HSA-9613829	Chaperone Mediated Autophagy
R-HSA-9615710	Late endosomal microautophagy
R-HSA-9706019	RHOBTB3 ATPase cycle

MSigDB gene sets: 224 (showing top): REACTOME_TRIGLYCERIDE_CATABOLISM, GOBP_REGULATION_OF_LIPID_STORAGE, ENK_UV_RESPONSE_KERATINOCYTE_UP, GRAESSMANN_APOPTOSIS_BY_DOXORUBICIN_DN, GOBP_VESICLE_MEDIATED_TRANSPORT, REACTOME_MEMBRANE_TRAFFICKING, MORF_RAF1, DAUER_STAT3_TARGETS_UP, RICKMAN_TUMOR_DIFFERENTIATED_WELL_VS_POORLY_DN, SHETH_LIVER_CANCER_VS_TXNIP_LOSS_PAM1, BLALOCK_ALZHEIMERS_DISEASE_UP, MORF_FANCG, SCHAEFFER_PROSTATE_DEVELOPMENT_6HR_DN, GOBP_CELLULAR_RESPONSE_TO_STARVATION, MORF_PML

GO Biological Process (5): positive regulation of triglyceride storage (GO:0010890), vesicle-mediated transport (GO:0016192), lipid storage (GO:0019915), cellular response to glucose starvation (GO:0042149), lipid droplet disassembly (GO:1905691)

GO Molecular Function (2): cadherin binding (GO:0045296), protein binding (GO:0005515)

GO Cellular Component (8): cytoplasm (GO:0005737), endosome (GO:0005768), Golgi apparatus (GO:0005794), lipid droplet (GO:0005811), cytosol (GO:0005829), endosome membrane (GO:0010008), membrane (GO:0016020), transport vesicle (GO:0030133)

Reactome top-level categories

Rollup of top-5 pathways:

Category	Pathways
Autophagy	2
Triglyceride metabolism	1
Intra-Golgi and retrograde Golgi-to-ER traffic	1
Selective autophagy	1
Signaling by Rho GTPases, Miro GTPases and RHOBTB3	1

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
cellular anatomical structure	3
endomembrane system	3
cytoplasmic vesicle	2
cytoplasm	2
positive regulation of lipid storage	1
regulation of triglyceride storage	1
triglyceride storage	1
transport	1
cellular process	1
nutrient storage	1
cellular response to starvation	1
lipid droplet organization	1
organelle disassembly	1
cell adhesion molecule binding	1
binding	1
intracellular anatomical structure	1
intracellular membrane-bounded organelle	1
intracellular membraneless organelle	1
endosome	1
cytoplasmic vesicle membrane	1
bounding membrane of organelle	1

Protein interactions and networks

STRING

2429 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
PLIN3	IGF2R	P11717	947
PLIN3	RHOBTB3	O94955	929
PLIN3	HSPA8	P11142	885
PLIN3	PNPLA2	Q96AD5	829
PLIN3	RAB5A	P20339	779
PLIN3	ABHD5	Q8WTS1	775
PLIN3	RAB18	Q9NP72	740
PLIN3	LIPE	Q05469	711
PLIN3	DGAT1	O75907	611
PLIN3	CIDEC	Q96AQ7	609
PLIN3	DGAT2	Q96PD7	598
PLIN3	SCARB1	Q8WTV0	591
PLIN3	RHOBTB1	O94844	589
PLIN3	RHOBTB2	Q9BYZ6	583
PLIN3	RAB9A	P51151	582

IntAct

146 interactions, top by confidence:

A	B	Type	Score
SLC17A5	LGALS8	psi-mi:“MI:0914”(association)	0.640
PLIN3	SNX1	psi-mi:“MI:0915”(physical association)	0.600
PLIN3		psi-mi:“MI:0915”(physical association)	0.600
	PLIN3	psi-mi:“MI:0915”(physical association)	0.600
	PLIN3	psi-mi:“MI:0403”(colocalization)	0.600
PLIN3	CMTM5	psi-mi:“MI:0915”(physical association)	0.560
PLIN3	HSD17B13	psi-mi:“MI:0915”(physical association)	0.560
PLIN3	LNPK	psi-mi:“MI:0915”(physical association)	0.560
PLIN3	CHMP4B	psi-mi:“MI:0915”(physical association)	0.560
PLIN3	PBX3	psi-mi:“MI:0915”(physical association)	0.560
PLIN3	MIEF1	psi-mi:“MI:0915”(physical association)	0.560
PLIN3	PIAS3	psi-mi:“MI:0915”(physical association)	0.560
PLIN3	CCNC	psi-mi:“MI:0915”(physical association)	0.560
PLIN3	MYG1	psi-mi:“MI:0915”(physical association)	0.560
PLIN3	ABHD4	psi-mi:“MI:0915”(physical association)	0.560
PLIN3	TBC1D13	psi-mi:“MI:0915”(physical association)	0.560
PLIN3	ABHD5	psi-mi:“MI:0915”(physical association)	0.560
PLIN3	PTPN9	psi-mi:“MI:0915”(physical association)	0.560
PLIN3	GAD2	psi-mi:“MI:0915”(physical association)	0.560
PLIN3	TARS2	psi-mi:“MI:0915”(physical association)	0.560
PLIN3	SNX2	psi-mi:“MI:0915”(physical association)	0.560
SYNGR1	PLIN3	psi-mi:“MI:0915”(physical association)	0.560
PLIN3	TMEM14C	psi-mi:“MI:0915”(physical association)	0.560

BioGRID (170): CMTM5 (Two-hybrid), HCCS (Affinity Capture-MS), MTCH2 (Affinity Capture-MS), VDAC1 (Affinity Capture-MS), TMEM43 (Affinity Capture-MS), PKMYT1 (Affinity Capture-MS), ATIC (Co-fractionation), DUT (Co-fractionation), EEF1A1 (Co-fractionation), HN1 (Co-fractionation), IMPA2 (Co-fractionation), LGALS3 (Co-fractionation), MAP2K1 (Co-fractionation), PLIN3 (Co-fractionation), PLIN3 (Co-fractionation)

ESM2 similar proteins: A0A9P5BNK0, A2Y0H2, A6QLL0, B0FJL7, E9F970, F4JNX2, M0R7Z9, O48832, O60240, O60664, O82246, O82803, P0DKW0, P0DMN9, P0DMS3, P0DOC1, P0DP52, P0DTQ9, P0DUX6, P0DUX7, P0DUY0, P0DUY1, P12278, P15252, P18658, P19034, P29530, P43883, P43884, Q00368, Q00G26, Q41112, Q4PLW0, Q5BLZ2, Q5RAV8, Q69YL0, Q84K90, Q8BVZ1, Q8CGN5, Q99541

Diamond homologs: A6QLL0, B0FJL7, M0R7Z9, O60240, O60664, P43883, Q00G26, Q4PLW0, Q5BLZ2, Q5RAV8, Q8BVZ1, Q8CGN5, Q99541, Q9DBG5, Q9TUM6, Q96Q06, P43884, O88492, E9F970

SIGNOR signaling

4 interactions.

A	Effect	B	Mechanism
CHKA	“down-regulates quantity by destabilization”	PLIN3	phosphorylation
RAB9A	“up-regulates activity”	PLIN3
PLIN3	“up-regulates activity”	IGF2R	relocalization
PLIN3	“up-regulates activity”	M6PR	relocalization

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	0
Uncertain significance	90
Likely benign	3
Benign	2

Top pathogenic / likely-pathogenic (0)

SpliceAI

1142 predictions. Top by Δscore:

Variant	Effect	Δscore
19:4844663:GGTAC:G	donor_loss	1.0000
19:4844664:GTAC:G	donor_loss	1.0000
19:4844666:A:T	donor_loss	1.0000
19:4844667:CCT:C	donor_gain	1.0000
19:4844669:T:TA	donor_gain	1.0000
19:4844789:TCCAT:T	acceptor_gain	1.0000
19:4844790:CCAT:C	acceptor_gain	1.0000
19:4844790:CCATC:C	acceptor_gain	1.0000
19:4844791:CAT:C	acceptor_gain	1.0000
19:4844791:CATC:C	acceptor_gain	1.0000
19:4844792:AT:A	acceptor_gain	1.0000
19:4844792:ATC:A	acceptor_loss	1.0000
19:4844794:C:CC	acceptor_gain	1.0000
19:4844794:C:G	acceptor_loss	1.0000
19:4844795:T:A	acceptor_loss	1.0000
19:4847690:CCAGG:C	donor_gain	1.0000
19:4847725:T:TA	donor_gain	1.0000
19:4847886:GCGGG:G	acceptor_gain	1.0000
19:4847887:CGGG:C	acceptor_gain	1.0000
19:4847887:CGGGC:C	acceptor_gain	1.0000
19:4847888:GGG:G	acceptor_gain	1.0000
19:4847889:GG:G	acceptor_gain	1.0000
19:4847890:GC:G	acceptor_loss	1.0000
19:4847891:C:CC	acceptor_gain	1.0000
19:4847891:C:G	acceptor_loss	1.0000
19:4852011:CTTA:C	donor_loss	1.0000
19:4852012:TTACC:T	donor_loss	1.0000
19:4852013:TAC:T	donor_loss	1.0000
19:4852014:A:AC	donor_gain	1.0000
19:4852014:AC:A	donor_gain	1.0000

AlphaMissense

2821 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
19:4839251:A:G	W416R	0.983
19:4839251:A:T	W416R	0.983
19:4859904:C:G	A63P	0.982
19:4859870:G:T	A74D	0.969
19:4839234:A:C	F421L	0.967
19:4839234:A:T	F421L	0.967
19:4839236:A:G	F421L	0.967
19:4859871:C:G	A74P	0.965
19:4859941:C:A	K50N	0.963
19:4859941:C:G	K50N	0.963
19:4839249:C:A	W416C	0.960
19:4839249:C:G	W416C	0.960
19:4839487:A:G	L337P	0.950
19:4859651:G:T	A96D	0.947
19:4839242:C:G	G419R	0.945
19:4839242:C:T	G419R	0.945
19:4859903:G:T	A63E	0.944
19:4859955:A:C	Y46D	0.941
19:4839391:A:G	L369P	0.938
19:4859987:A:T	I35N	0.938
19:4847817:G:C	F236L	0.937
19:4847817:G:T	F236L	0.937
19:4847819:A:G	F236L	0.937
19:4859915:A:T	V59D	0.937
19:4839241:C:T	G419E	0.933
19:4859849:A:T	I81N	0.933
19:4859966:A:T	V42E	0.933
19:4859858:G:T	A78D	0.926
19:4859849:A:G	I81T	0.923
19:4859913:A:G	C60R	0.919

dbSNP variants (sampled 300 via entrez): RS1000001466 (19:4858994 G>A), RS1000025093 (19:4847348 G>A), RS1000065017 (19:4857845 A>G), RS1000098172 (19:4862270 A>G), RS1000224993 (19:4843189 T>G), RS1000390878 (19:4856613 G>A), RS1000443479 (19:4865501 A>C), RS1000533006 (19:4842998 A>C), RS1000546411 (19:4867699 C>T), RS1000615000 (19:4869045 T>C,G), RS1000620527 (19:4839122 C>T), RS1000808932 (19:4838439 G>A), RS1000827296 (19:4842549 G>A,C), RS1000857055 (19:4861479 C>A,G,T), RS1000984532 (19:4847419 C>A)

Disease associations

OMIM: gene MIM:602702 | disease phenotypes:

GenCC curated gene-disease

Mondo (0):

Orphanet (0):

HPO phenotypes

0 total (0 of 0 shown, HPO-id order):

GWAS associations

4 associations (top):

Study	Trait	p-value
GCST003726_27	Basal cell carcinoma	3.000000e-08
GCST003824_4	Depression in response to interferon-based therapy in chronic hepatitis C	1.000000e-06
GCST004749_51	Lung cancer in ever smokers	9.000000e-07
GCST008473_50	Visceral fat	8.000000e-06

EFO canonical traits (2, from GWAS)

EFO ID	Trait name
EFO:0007006	depressive symptom measurement
EFO:0007859	response to interferon

Drugs & pharmacology

Drug and pharmacology data

Is drug target: yes

ChEMBL targets (1): CHEMBL4523145 (SINGLE PROTEIN)

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

ChEMBL bioactivities

2 potent at pChembl≥5 of 2 total, top 2 by pChembl (potency: 10 = 0.1 nM, 6 = 1 µM).

pChembl	Type	Value	Unit	Molecule
7.04	Kd	90.95	nM	CHEMBL5653589
7.04	ED50	90.95	nM	CHEMBL5653589

PubChem BioAssay actives

1 with measured affinity, of 3 total; 1 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
4-methyl-3-[(2-methyl-6-pyridin-3-ylpyrazolo[3,4-d]pyrimidin-4-yl)amino]-N-[3-(trifluoromethyl)phenyl]benzamide	2149024: Binding affinity to human PLIN3 incubated for 45 mins by Kinobead based pull down assay	kd	0.0910	uM

CTD chemical–gene interactions

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

Chemical	Actions (top 5)	PubMed papers
bisphenol A	decreases expression, increases expression, affects cotreatment	4
Acetaminophen	decreases expression, increases expression	3
Air Pollutants	increases abundance, increases oxidation, decreases expression, affects cotreatment	3
Cadmium Chloride	increases palmitoylation, increases expression, decreases reaction, increases abundance	3
Particulate Matter	decreases expression, increases abundance, increases expression	3
sodium arsenite	affects methylation, increases expression	2
bisphenol S	increases expression, affects cotreatment, decreases expression	2
Cadmium	decreases reaction, increases abundance, increases palmitoylation, increases expression	2
Cisplatin	affects expression, affects response to substance	2
Silicon Dioxide	increases expression	2
Smoke	decreases expression	2
Cyclosporine	decreases expression, increases expression	2
Aflatoxin B1	increases expression, increases methylation	2
aristolochic acid I	increases expression	1
FR900359	decreases phosphorylation	1
triphenyl phosphate	affects expression	1
alpha-pinene	affects cotreatment, increases oxidation, increases abundance	1
propionaldehyde	increases expression	1
sodium arsenate	decreases expression	1
pyrogallol 1,3-dimethyl ether	affects cotreatment, affects localization, increases expression, decreases expression	1
retinol palmitate	decreases reaction, increases hydrolysis	1
butyraldehyde	increases expression	1
tetrabromobisphenol A	increases expression	1
2-bromopalmitate	decreases reaction, increases abundance, increases palmitoylation	1
lead chloride	decreases expression	1
methacrylaldehyde	affects cotreatment, increases oxidation, increases abundance	1
diallyl trisulfide	increases expression	1
chloropicrin	decreases expression	1
4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide	affects cotreatment, increases expression	1
nutlin 3	affects cotreatment, increases secretion	1

ChEMBL screening assays

4 unique, capped per target: 4 binding

Representative assays (with source publication via chembl_document):

Assay ID	Type	Description	Source paper
CHEMBL4341408	Binding	Binding affinity to PLIN3 in human A549 cells lysates grown on SILAC media at 10 uM incubated for 1 hr by LC-MS/MS analysis relative to untreated control	Profiling withanolide A for therapeutic targets in neurodegenerative diseases. — Bioorg Med Chem

Cellosaurus cell lines

5 cell lines: 5 cancer cell line

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

Cellosaurus	Name	Category	Sex
CVCL_D2LG	Abcam Raji PLIN3 KO	Cancer cell line	Male
CVCL_TE59	HAP1 PLIN3 (-) 1	Cancer cell line	Male
CVCL_TE60	HAP1 PLIN3 (-) 2	Cancer cell line	Male
CVCL_TE61	HAP1 PLIN3 (-) 3	Cancer cell line	Male
CVCL_WQ31	Abcam Jurkat PLIN3 KO	Cancer cell line	Male

Clinical trials (associated diseases)

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