PLIN2

Summary

PLIN2 (perilipin 2, HGNC:248) is a protein-coding gene on chromosome 9p22.1, encoding Perilipin-2 (Q99541). Structural component of lipid droplets, which is required for the formation and maintenance of lipid storage droplets.

The protein encoded by this gene belongs to the perilipin family, members of which coat intracellular lipid storage droplets. This protein is associated with the lipid globule surface membrane material, and maybe involved in development and maintenance of adipose tissue. However, it is not restricted to adipocytes as previously thought, but is found in a wide range of cultured cell lines, including fibroblasts, endothelial and epithelial cells, and tissues, such as lactating mammary gland, adrenal cortex, Sertoli and Leydig cells, and hepatocytes in alcoholic liver cirrhosis, suggesting that it may serve as a marker of lipid accumulation in diverse cell types and diseases. Alternatively spliced transcript variants have been found for this gene.

Source: NCBI Gene 123 — RefSeq curated summary.

At a glance

• GWAS associations: 2
• Clinical variants (ClinVar): 77 total
• MANE Select transcript: NM_001122

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:248
Approved symbol	PLIN2
Name	perilipin 2
Location	9p22.1
Locus type	gene with protein product
Status	Approved
Aliases	ADRP
Ensembl gene	ENSG00000147872
Ensembl biotype	protein_coding
OMIM	103195
Entrez	123

Gene structure

Transcript identifiers

Ensembl transcripts: 35 — 31 protein_coding, 4 protein_coding_CDS_not_defined

ENST00000276914, ENST00000380464, ENST00000380465, ENST00000434144, ENST00000464326, ENST00000472715, ENST00000475923, ENST00000494753, ENST00000907780, ENST00000907781, ENST00000907782, ENST00000907783, ENST00000907784, ENST00000907785, ENST00000907786, ENST00000907787, ENST00000907788, ENST00000907789, ENST00000907790, ENST00000907791, ENST00000907792, ENST00000957805, ENST00000957806, ENST00000957807, ENST00000957808, ENST00000957809, ENST00000957810, ENST00000957811, ENST00000957812, ENST00000957813, ENST00000957814, ENST00000957815, ENST00000957816, ENST00000957817, ENST00000957818

RefSeq mRNA: 1 — MANE Select: NM_001122 NM_001122

CCDS: CCDS6490

Canonical transcript exons

ENST00000276914 — 8 exons

Exon	Start	End
ENSE00000982195	19126114	19126309
ENSE00000982196	19123565	19123647
ENSE00000982197	19120880	19121165
ENSE00000982198	19119650	19119831
ENSE00000982199	19118321	19118455
ENSE00001810449	19115761	19116649
ENSE00001879521	19127419	19127492
ENSE00003478618	19126397	19126448

Expression profiles

Bgee: expression breadth ubiquitous, 286 present calls, max score 99.88.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 65.7920 / max 2029.0179, expressed in 1597 samples.

FANTOM5 promoters (2 alternative TSS)

Promoter ID	TPM avg	Samples expressed
100151	65.7711	1597
100154	0.0209	7

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
pericardium	UBERON:0002407	99.88	gold quality
jejunal mucosa	UBERON:0000399	99.52	gold quality
type B pancreatic cell	CL:0000169	99.31	gold quality
omental fat pad	UBERON:0010414	99.22	gold quality
peritoneum	UBERON:0002358	99.20	gold quality
adipose tissue of abdominal region	UBERON:0007808	99.12	gold quality
gastrocnemius	UBERON:0001388	98.93	gold quality
stromal cell of endometrium	CL:0002255	98.92	gold quality
right lobe of liver	UBERON:0001114	98.91	gold quality
duodenum	UBERON:0002114	98.80	gold quality
nephron tubule	UBERON:0001231	98.74	gold quality
liver	UBERON:0002107	98.57	gold quality
adipose tissue	UBERON:0001013	98.54	gold quality
muscle of leg	UBERON:0001383	98.47	gold quality
subcutaneous adipose tissue	UBERON:0002190	98.35	gold quality
kidney epithelium	UBERON:0004819	98.23	gold quality
hindlimb stylopod muscle	UBERON:0004252	98.22	gold quality
ileal mucosa	UBERON:0000331	98.18	gold quality
connective tissue	UBERON:0002384	98.13	gold quality
renal glomerulus	UBERON:0000074	97.95	gold quality
left adrenal gland	UBERON:0001234	97.95	gold quality
metanephric glomerulus	UBERON:0004736	97.95	gold quality
right lung	UBERON:0002167	97.86	gold quality
left adrenal gland cortex	UBERON:0035825	97.86	gold quality
placenta	UBERON:0001987	97.81	gold quality
mucosa of stomach	UBERON:0001199	97.78	gold quality
parotid gland	UBERON:0001831	97.78	gold quality
right adrenal gland	UBERON:0001233	97.76	gold quality
upper lobe of left lung	UBERON:0008952	97.63	gold quality
upper lobe of lung	UBERON:0008948	97.61	gold quality

Single-cell (SCXA)

Detected in 27 experiment(s), a significant marker in 22.

Experiment	Marker?	Max mean expression
E-MTAB-9435	yes	2148.27
E-MTAB-8322	yes	1717.00
E-MTAB-8495	yes	1680.39
E-MTAB-10855	yes	1649.38
E-CURD-122	yes	53.81
E-HCAD-6	yes	52.54
E-MTAB-8142	yes	38.93
E-MTAB-6701	yes	38.49
E-HCAD-1	yes	34.99
E-CURD-88	yes	32.90
E-HCAD-31	yes	31.81
E-MTAB-9067	yes	15.51
E-HCAD-10	yes	14.57
E-CURD-112	yes	14.20
E-MTAB-5061	yes	11.27

Regulation

Is transcription factor: no

Upstream regulators (CollecTRI, top): AP1, IRF6, NFKB, PGR, PPARA, PPARD, PPARG, SP1, TBX15, TFAP2A

miRNA regulators (miRDB)

24 targeting PLIN2, 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-196A-5P	100.00	68.16	684
HSA-MIR-196B-5P	100.00	68.16	681
HSA-MIR-3646	100.00	73.56	5283
HSA-MIR-590-3P	99.96	74.34	6478
HSA-MIR-9-3P	99.96	70.88	2068
HSA-MIR-539-5P	99.93	70.30	2855
HSA-MIR-1305	99.91	71.43	3443
HSA-MIR-519A-3P	99.67	71.67	1868
HSA-MIR-519B-3P	99.67	71.67	1868
HSA-MIR-519C-3P	99.67	71.67	1870
HSA-MIR-4261	99.59	70.30	3415
HSA-MIR-4452	99.50	68.45	1493
HSA-MIR-147B-5P	99.45	70.62	2432
HSA-MIR-183-3P	99.41	69.41	1598
HSA-MIR-5100	99.11	67.52	1098
HSA-MIR-1207-3P	98.99	66.22	1532
HSA-MIR-382-3P	98.83	67.10	1074
HSA-MIR-6796-3P	98.68	65.49	689
HSA-MIR-8060	98.61	66.93	1187
HSA-MIR-3187-3P	97.38	65.80	904
HSA-MIR-125A-3P	97.04	66.92	902
HSA-MIR-3663-5P	97.01	64.84	713
HSA-MIR-1226-5P	96.50	65.28	643
HSA-MIR-4794	96.47	65.53	1063

Literature-anchored findings (GeneRIF, showing 40)

• Mitogen-inducible gene 6 (MIG-6), adipophilin and tuftelin are inducible by hypoxia. (PMID:12387890)
• targeting of the lipid droplet-binding adipocyte differentiation-related protein. (PMID:12591929)
• Expression of adipophilin is enhanced during trophoblast differentiation and is up-regulated by ligand-activated PPARgamma/retinoid X receptor. May contribute to fatty acid uptake by placenta. (PMID:14671211)
• Stimulation of adipophilin expression in macrophages by modified LDL promotes triglyceride & cholesterol storage and reduces cholesterol efflux. Adipophilin might contribute in vivo to lipid accumulation in the intima of the arterial wall. (PMID:14707038)
• GDP-bound ARF1 induces dissociation of ADRP from the Lipid droplet surface;. (PMID:15336557)
• TIP47 and adipophilin are components of many, but not all, the lipid droplets in THP-1 cells (PMID:15545278)
• ADRP and TG regulate each other, and the ubiquitin-proteasome system is involved in degradation of ADRP during regression of lipid-storing cells. (PMID:16230742)
• ADFP mRNA and protein are increased by long-chain polyunsaturated fatty acids in a human placental choriocarcinoma cell line (BeWo) and in primary human trophoblasts. The ADFP protein might facilitate transplacental transfer of maternal fatty acids (PMID:16391323)
• Data demonstrate that adipose differentiation-related protein (ADRP) mRNA and protein are regulated by fatty acids in a human placental choriocarcinoma cell line (BeWo) and in primary human trophoblasts. (PMID:16391323)
• We demonstrate that ADFP is transcriptionally regulated by peroxisome proliferator-activated receptor alpha (PPARalpha) in human hepatoma cells through a highly conserved direct repeat-1(DR-1) element. (PMID:16489205)
• The results suggested that the putative hydrophobic cleft is critical for the unique characteristics of TIP47. (PMID:16808905)
• Adipophilin expression in THP-1 macrophages altered the cellular content of different lipids and enhanced the size of lipid droplets (PMID:16884492)
• adipose differentiation-related protein does not appear to have a role in lung surfactant production (PMID:16936283)
• ADFP expression may have a role in clear cell renal carcinoma differentiation (PMID:17200350)
• the metallothionein genes, adipophilin (ADFP), CD36, adipocyte fatty acid binding protein (FABP4), ATP binding cassette protein A1 (ABCA1), and liver X receptor (LXR[alpha]) all emerged as strongly positively correlated with PPAR[gamma] expression. (PMID:17322100)
• Because adipophilin blocks cholesterol efflux from lipid-laden cells, they may die and develop a necrotic lipid core, thereby destabilizing the symptomatic carotid plaque. (PMID:17446422)
• agLDL-LRP1 engagement induces adipocyte differentiation-related protein overexpression in both monocyte-derived macrophages and human vascular smooth muscle cells (PMID:17620659)
• Perilipin content decreased and adipophilin increased with lipoprotein lipid loading regardless of intracellular neutral lipid composition (PMID:17927964)
• Mutations in known genes account for 58% of autosomal dominant retinitis pigmentosa (adRP). (PMID:18188946)
• Adipophilin and TIP47 are expressed in lipid droplets of vitamin A-storing hepatic stellate cells and additionally in lipid droplets of steatotic hepatocytes. (PMID:18393390)
• ADFP is involved in retinoid storage and trafficking in the mouse eye. (PMID:18606814)
• Increased expression by OxLDL in PMA-differentiated THP-1 macrophages and in plaque vs. nonplaque lesion areas in human carotid endarterectomy specimens (it(correlated with CD36 expression). (PMID:18827892)
• 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)
• Mycobacterium leprae regulates ADRP/perilipin expression to facilitate the accumulation of lipids within infected macrophages for intracellular survival. (PMID:19054096)
• the intramyocellular lipids (IMCL) pool is heterogeneous, as the majority but not all IMCL contain adipophilin. (PMID:19169702)
• Findings revealed an upregulation of ADRP during macrophages differentiation into foam cells. (PMID:19351497)
• ADRP content was negatively associated with insulin-stimulated glucose uptake. Results indicate involvement of OXPAT and ADRP in muscular lipid accumulation and type 2 diabetes. (PMID:19602560)
• LXR, upon stimulation with GW3965, directly regulates human ADFP transcription by binding to LXR response elements located in the 3’-untranslated and the 5’-flanking regions (PMID:19843633)
• Adipophilin augment inflammation in macrophages, which might be one role of adipophilin in atherosclerosis. (PMID:19851831)
• Expression patterns of perilipin and adipophilin in nonalcoholic fatty liver disease livers vary with the size of lipid droplets (PMID:20032580)
• Adipophilin can be valuable in an immunohistochemical panel when evaluating cutaneous lesions with clear cell histology (PMID:20118912)
• ADRP upregulation mediated by retinol and palmitate promotes downregulation of hepatic stellate cells activation and is functionally linked to the expression of fibrogenic genes. (PMID:20143336)
• Perilipin may play a role in the long-term storage of fat, which may be only partially reflected by cell culture models. (PMID:20661576)
• Adipophilin-positive macrophage infiltration in the fibrous cap might be correlated with instability in neurological status (PMID:20887090)
• The frequency of adipophilin-positive cases was significantly higher in apocrine breast carcinomas compared with nonapocrine carcinomas. (PMID:21566511)
• High PLIN2 protein level is associated with colorectal cancer. (PMID:21828233)
• It was shown that the PLIN2 content in skeletal muscle is unchanged in response to a single bout of endurance exercise. The PLIN2-intramuscular triglyceride association was reduced postexercise. (PMID:22496505)
• 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 observed in female skeletal muscle. (PMID:22667335)
• Data suggest that prolonged endurance exercise training increases expression of perilipin 2 alongside increases in intramuscular triglyceride content specificly in type I/slow-twitch muscle fibers of type 2 diabetes patients. (PMID:22949030)
• Gene expression profile indicated a significant over-expression of the adipophilin gene and marked up-regulation of other genes involved in lipid metabolism in Burkitt lymphoma. (PMID:22952953)

Cross-species orthologs

4 orthologs

Organism	Symbol	Gene ID
danio_rerio	plin2	ENSDARG00000042332
mus_musculus	Plin2	ENSMUSG00000028494
rattus_norvegicus	Plin2	ENSRNOG00000007060
drosophila_melanogaster	Lsd-2	FBGN0030608

Paralogs (4): PLIN3 (ENSG00000105355), PLIN1 (ENSG00000166819), PLIN4 (ENSG00000167676), PLIN5 (ENSG00000214456)

Protein

Protein identifiers

Perilipin-2 — Q99541 (reviewed: Q99541)

Alternative names: Adipophilin, Adipose differentiation-related protein

All UniProt accessions (5): Q99541, Q5SYF3, Q5SYF4, Q5SYF5, Q6FHZ7

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.

Subunit / interactions. Interacts with IRGC.

Subcellular location. Membrane. Lipid droplet.

Tissue specificity. Milk lipid globules.

Post-translational modifications. Acylated; primarily with C14, C16 and C18 fatty acids. Phosphorylation at Tyr-232 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. Polyubiquitination of Nt-acetylatable A-PLIN2 by MARCHF6 lead to degradation by 26S proteasomes.

Similarity. Belongs to the perilipin family.

RefSeq proteins (1): NP_001113* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR004279	Perilipin	Family

Pfam: PF03036

UniProt features (10 total): modified residue 3, initiator methionine 1, chain 1, region of interest 1, compositionally biased region 1, sequence variant 1, mutagenesis site 1, sequence conflict 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q99541-F1	64.60	0.02

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 (3): 2, 215, 232

Mutagenesis-validated functional residues (1):

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

Function

Pathways and Gene Ontology

Reactome pathways

5 pathways

ID	Pathway
R-HSA-1989781	PPARA activates gene expression
R-HSA-9613354	Lipophagy
R-HSA-9613829	Chaperone Mediated Autophagy
R-HSA-9615710	Late endosomal microautophagy
R-HSA-9841922	MLL4 and MLL3 complexes regulate expression of PPARG target genes in adipogenesis and hepatic steatosis

MSigDB gene sets: 375 (showing top): GSE45365_CD8A_DC_VS_CD11B_DC_IFNAR_KO_DN, GSE18804_BRAIN_VS_COLON_TUMORAL_MACROPHAGE_DN, GSE45365_CTRL_VS_MCMV_INFECTION_NK_CELL_DN, TONKS_TARGETS_OF_RUNX1_RUNX1T1_FUSION_MONOCYTE_UP, MODULE_52, GOBP_REGULATION_OF_LIPID_STORAGE, SWEET_KRAS_ONCOGENIC_SIGNATURE, GRAESSMANN_APOPTOSIS_BY_DOXORUBICIN_UP, MENSE_HYPOXIA_UP, HALMOS_CEBPA_TARGETS_UP, IVANOVA_HEMATOPOIESIS_LATE_PROGENITOR, MODULE_16, GOBP_ORGANIC_ACID_TRANSPORT, MODULE_118, CHEN_LVAD_SUPPORT_OF_FAILING_HEART_UP

GO Biological Process (6): response to xenobiotic stimulus (GO:0009410), positive regulation of triglyceride storage (GO:0010890), long-chain fatty acid transport (GO:0015909), lipid storage (GO:0019915), cellular response to glucose starvation (GO:0042149), lipid droplet disassembly (GO:1905691)

GO Molecular Function (1): protein binding (GO:0005515)

GO Cellular Component (8): extracellular region (GO:0005576), nucleus (GO:0005634), endoplasmic reticulum (GO:0005783), lipid droplet (GO:0005811), cytosol (GO:0005829), plasma membrane (GO:0005886), cytoplasm (GO:0005737), membrane (GO:0016020)

Reactome top-level categories

Rollup of top-4 pathways:

Category	Pathways
Autophagy	2
Regulation of lipid metabolism by PPARalpha	1
Selective autophagy	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
intracellular membrane-bounded organelle	2
cytoplasm	2
response to chemical	1
positive regulation of lipid storage	1
regulation of triglyceride storage	1
triglyceride storage	1
fatty acid transport	1
nutrient storage	1
cellular response to starvation	1
lipid droplet organization	1
organelle disassembly	1
binding	1
endomembrane system	1
intracellular membraneless organelle	1
membrane	1
cell periphery	1
intracellular anatomical structure	1

Protein interactions and networks

STRING

2972 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
PLIN2	BTN1A1	Q13410	972
PLIN2	BTN2A2	Q8WVV5	959
PLIN2	BTN2A1	P78408	956
PLIN2	BTNL9	Q6UXG8	956
PLIN2	ERMAP	Q96PL5	923
PLIN2	BTNL3	Q6UXE8	922
PLIN2	BTN3A3	O00478	917
PLIN2	BTNL8	Q6UX41	917
PLIN2	BTN3A2	P78410	913
PLIN2	BTN3A1	O00481	910
PLIN2	XDH	P47989	904
PLIN2	HSPA8	P11142	897
PLIN2	ABHD5	Q8WTS1	878
PLIN2	PNPLA2	Q96AD5	850
PLIN2	LIPE	Q05469	825

IntAct

44 interactions, top by confidence:

A	B	Type	Score
SNX7	SNX4	psi-mi:“MI:0914”(association)	0.670
POGZ	PLIN2	psi-mi:“MI:0915”(physical association)	0.560
PLIN2	DESI2	psi-mi:“MI:0915”(physical association)	0.560
ABHD5	PLIN2	psi-mi:“MI:0915”(physical association)	0.560
PLIN2	HTATIP2	psi-mi:“MI:0915”(physical association)	0.560
SFT2D2	PLIN2	psi-mi:“MI:0915”(physical association)	0.560
PLIN2	WFS1	psi-mi:“MI:0915”(physical association)	0.560
PLIN2	KIF1B	psi-mi:“MI:0915”(physical association)	0.560
PLIN2		psi-mi:“MI:0915”(physical association)	0.550
ANKRD22	ESYT2	psi-mi:“MI:0914”(association)	0.530
LPAR1	TMEM223	psi-mi:“MI:0914”(association)	0.530
PLIN2	PCNA	psi-mi:“MI:0915”(physical association)	0.370
CD81	STX3	psi-mi:“MI:0914”(association)	0.350
CD81	PVR	psi-mi:“MI:0914”(association)	0.350
	NBAS	psi-mi:“MI:0914”(association)	0.350
	TMEM223	psi-mi:“MI:0914”(association)	0.350
PLIN2	TESC	psi-mi:“MI:0914”(association)	0.350
ATG16L1	ESYT2	psi-mi:“MI:0914”(association)	0.350
PINK1	A2ML1	psi-mi:“MI:0914”(association)	0.350
MBNL1	A2ML1	psi-mi:“MI:0914”(association)	0.350
DIABLO	SIPA1L1	psi-mi:“MI:0914”(association)	0.350
GSDME	DDX39A	psi-mi:“MI:0914”(association)	0.350
LDAF1	TRAPPC3	psi-mi:“MI:0914”(association)	0.350
PISD	PPP6R2	psi-mi:“MI:0914”(association)	0.350

BioGRID (45): PLIN2 (FRET), PLIN2 (Affinity Capture-Western), PLIN2 (Proximity Label-MS), PLIN2 (PCA), MARCH6 (Affinity Capture-Western), PLIN2 (Affinity Capture-Western), USP15 (Affinity Capture-Western), PLIN2 (Two-hybrid), PLIN2 (Two-hybrid), PLIN2 (Two-hybrid), PLIN2 (Two-hybrid), SFT2D2 (Two-hybrid), PLIN2 (Co-localization), PLIN2 (Affinity Capture-MS), PLIN2 (Affinity Capture-MS)

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

2 interactions.

A	Effect	B	Mechanism
PPARA	“up-regulates quantity by expression”	PLIN2	“transcriptional regulation”
CHKA	“down-regulates quantity by destabilization”	PLIN2	phosphorylation

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	0
Uncertain significance	64
Likely benign	4
Benign	2

Top pathogenic / likely-pathogenic (0)

SpliceAI

869 predictions. Top by Δscore:

Variant	Effect	Δscore
9:19116645:ATGTG:A	acceptor_gain	1.0000
9:19116646:TGTG:T	acceptor_gain	1.0000
9:19116650:C:CC	acceptor_gain	1.0000
9:19118315:TCTTA:T	donor_loss	1.0000
9:19118316:CTTA:C	donor_loss	1.0000
9:19118317:TTAC:T	donor_loss	1.0000
9:19118318:TA:T	donor_loss	1.0000
9:19118320:C:A	donor_loss	1.0000
9:19118320:CCT:C	donor_gain	1.0000
9:19118451:TCAAT:T	acceptor_gain	1.0000
9:19118452:CAAT:C	acceptor_gain	1.0000
9:19118452:CAATC:C	acceptor_gain	1.0000
9:19118453:AAT:A	acceptor_gain	1.0000
9:19118454:AT:A	acceptor_gain	1.0000
9:19118456:C:CC	acceptor_gain	1.0000
9:19118461:CACAT:C	acceptor_gain	1.0000
9:19118463:C:CT	acceptor_gain	1.0000
9:19118464:A:AC	acceptor_gain	1.0000
9:19118464:A:C	acceptor_gain	1.0000
9:19118465:T:C	acceptor_gain	1.0000
9:19118465:T:TC	acceptor_gain	1.0000
9:19118472:A:T	acceptor_gain	1.0000
9:19119644:ACT:A	donor_loss	1.0000
9:19119645:CTC:C	donor_loss	1.0000
9:19119646:TCA:T	donor_loss	1.0000
9:19119647:CA:C	donor_loss	1.0000
9:19119648:A:AC	donor_gain	1.0000
9:19119648:A:AG	donor_loss	1.0000
9:19119649:C:CC	donor_gain	1.0000
9:19119649:C:CG	donor_loss	1.0000

AlphaMissense

2876 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
9:19126229:C:A	K37N	0.948
9:19126229:C:G	K37N	0.948
9:19123626:G:T	A83D	0.935
9:19126192:C:G	A50P	0.928
9:19123638:G:T	A79D	0.921
9:19126158:G:T	A61D	0.919
9:19126275:A:T	V22E	0.913
9:19116600:A:G	L321P	0.912
9:19123627:C:G	A83P	0.911
9:19126284:A:G	L19P	0.909
9:19126243:A:C	Y33D	0.901
9:19126296:C:G	R15P	0.894
9:19126201:A:G	C47R	0.891
9:19116364:A:G	W400R	0.889
9:19116364:A:T	W400R	0.889
9:19123614:A:G	L87P	0.886
9:19116347:A:C	F405L	0.865
9:19116347:A:T	F405L	0.865
9:19116349:A:G	F405L	0.865
9:19126191:G:T	A50E	0.865
9:19126146:G:T	A65D	0.864
9:19118371:A:G	W288R	0.856
9:19118371:A:T	W288R	0.856
9:19123639:C:G	A79P	0.855
9:19126159:C:G	A61P	0.853
9:19123634:A:C	N80K	0.850
9:19123634:A:T	N80K	0.850
9:19123614:A:T	L87Q	0.847
9:19123593:A:G	L94P	0.833
9:19123647:A:C	I76S	0.828

dbSNP variants (sampled 300 via entrez): RS1000068963 (9:19117180 A>G), RS1000193668 (9:19128193 G>A), RS1000303662 (9:19122926 T>C), RS1000398759 (9:19117315 C>G), RS1000475550 (9:19128621 A>C), RS1000485606 (9:19113301 T>C), RS1000516232 (9:19113115 G>A), RS1000838139 (9:19124915 G>T), RS1000846149 (9:19128870 A>T), RS1001049707 (9:19111537 C>G,T), RS1001206805 (9:19113884 C>A,G,T), RS1001219219 (9:19108577 C>G,T), RS1001332187 (9:19108692 A>G), RS1001367557 (9:19112301 C>T), RS1001567704 (9:19117791 G>C)

Disease associations

OMIM: gene MIM:103195 | disease phenotypes:

GenCC curated gene-disease

Mondo (0):

Orphanet (0):

HPO phenotypes

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

GWAS associations

2 associations (top):

Study	Trait	p-value
GCST007267_127	Systolic blood pressure	4.000000e-08
GCST009091_7	Abdominal aortic calcification levels	8.000000e-07

EFO canonical traits (2, from GWAS)

EFO ID	Trait name
EFO:0006335	systolic blood pressure
EFO:0010272	abdominal aortic calcification measurement

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

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

CTD chemical–gene interactions

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

Chemical	Actions (top 5)	PubMed papers
perfluorooctanoic acid	affects cotreatment, increases expression	10
perfluorooctane sulfonic acid	affects cotreatment, increases expression	7
Oleic Acid	decreases reaction, affects cotreatment, increases expression, increases reaction	7
bisphenol A	affects expression, decreases expression, increases expression	6
Rosiglitazone	affects expression, increases expression, increases reaction	6
Valproic Acid	increases methylation, affects expression, decreases expression, increases expression	6
Cisplatin	affects expression, affects cotreatment, increases expression, affects response to substance	5
pirinixic acid	affects binding, increases activity, increases expression	4
Cadmium Chloride	decreases expression, increases expression	4
perfluoro-n-nonanoic acid	increases expression, affects cotreatment	3
GW 7647	affects cotreatment, increases expression	3
Fenofibrate	increases expression, increases reaction	3
Silicon Dioxide	increases expression, decreases expression	3
Tobacco Smoke Pollution	increases expression	3
Palmitic Acid	decreases reaction, increases expression, affects cotreatment	3
ammonium 2,3,3,3-tetrafluoro-2-(heptafluoropropoxy)-propanoate	increases expression	2
triphenyl phosphate	increases abundance, increases expression, affects expression	2
deoxynivalenol	increases expression	2
sodium arsenite	affects reaction, increases expression	2
nickel sulfate	increases expression	2
perfluorobutyric acid	increases expression	2
GW 501516	affects binding, increases expression, decreases reaction	2
perfluorohexanesulfonic acid	increases expression, affects cotreatment	2
perfluorohexanoic acid	increases expression	2
(4-(((2-(3-fluoro-4-(trifluoromethyl)phenyl)-4-methyl-1,3-thiazol-5-yl)methyl)sulfanyl)-2-methylphenoxy)acetic acid	increases expression, decreases reaction	2
2,2’,4,4’-tetrabromodiphenyl ether	increases expression	2
perfluorobutanesulfonic acid	increases expression	2
Pioglitazone	increases expression	2
Decitabine	affects expression, increases expression	2
Troglitazone	increases expression, increases reaction	2

Cellosaurus cell lines

2 cell lines: 2 cancer cell line

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

Cellosaurus	Name	Category	Sex
CVCL_TE58	HAP1 PLIN2 (-) 1	Cancer cell line	Male
CVCL_XR62	HAP1 PLIN2 (-) 2	Cancer cell line	Male

Clinical trials (associated diseases)

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