VPS54

Summary

VPS54 (VPS54 subunit of GARP complex, HGNC:18652) is a protein-coding gene on chromosome 2p15-p14, encoding Vacuolar protein sorting-associated protein 54 (Q9P1Q0). Acts as a component of the GARP complex that is involved in retrograde transport from early and late endosomes to the trans-Golgi network (TGN). It is a selective cancer dependency (DepMap: 45.4% of cell lines).

This gene encodes for a protein that in yeast forms part of a trimeric vacuolar-protein-sorting complex that is required for retrograde transport of proteins from prevacuoles to the late Golgi compartment. As in yeast, mammalian Vps54 proteins contain a coiled-coil region and dileucine motifs. Alternative splicing results in multiple transcript variants encoding different isoforms

Source: NCBI Gene 51542 — RefSeq curated summary.

At a glance

• GWAS associations: 2
• Clinical variants (ClinVar): 152 total
• Cancer dependency (DepMap): dependent in 45.4% of screened cell lines
• MANE Select transcript: NM_016516

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:18652
Approved symbol	VPS54
Name	VPS54 subunit of GARP complex
Location	2p15-p14
Locus type	gene with protein product
Status	Approved
Aliases	HCC8, PPP1R164
Ensembl gene	ENSG00000143952
Ensembl biotype	protein_coding
OMIM	614633
Entrez	51542

Gene structure

Transcript identifiers

Ensembl transcripts: 14 — 13 protein_coding, 1 nonsense_mediated_decay

ENST00000272322, ENST00000354504, ENST00000409558, ENST00000416400, ENST00000851816, ENST00000851817, ENST00000851818, ENST00000922499, ENST00000922500, ENST00000949095, ENST00000949096, ENST00000949097, ENST00000949098, ENST00000949099

RefSeq mRNA: 2 — MANE Select: NM_016516 NM_001005739, NM_016516

CCDS: CCDS33208, CCDS46302

Canonical transcript exons

ENST00000272322 — 23 exons

Exon	Start	End
ENSE00000962876	63983864	63984019
ENSE00000962877	63981646	63981887
ENSE00000962878	63972166	63972244
ENSE00000962880	63965835	63965966
ENSE00000962881	63962058	63962443
ENSE00000962882	63949037	63949163
ENSE00000962883	63947383	63947490
ENSE00000962884	63944600	63944655
ENSE00000962885	63942465	63942561
ENSE00000962886	63933673	63934013
ENSE00000962887	63921206	63921335
ENSE00000962888	63920446	63920627
ENSE00000962889	63919883	63919995
ENSE00001006379	63968957	63968991
ENSE00001862430	63892150	63893535
ENSE00003495527	63913223	63913310
ENSE00003559911	63912540	63912661
ENSE00003704524	63897496	63897590
ENSE00003705407	63899474	63899581
ENSE00003706374	63916900	63916963
ENSE00003708138	63914182	63914287
ENSE00003711475	63912345	63912425
ENSE00003844564	64018938	64019428

Expression profiles

Bgee: expression breadth ubiquitous, 285 present calls, max score 97.10.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 11.8796 / max 862.7390, expressed in 1789 samples.

FANTOM5 promoters (5 alternative TSS)

Promoter ID	TPM avg	Samples expressed
28723	8.1364	1721
28724	1.6714	1035
28722	1.1267	725
28721	0.5784	312
28725	0.3667	155

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
sperm	CL:0000019	97.10	gold quality
parotid gland	UBERON:0001831	95.92	gold quality
male germ cell	CL:0000015	94.43	gold quality
tibia	UBERON:0000979	93.67	gold quality
pancreatic ductal cell	CL:0002079	93.26	gold quality
germinal epithelium of ovary	UBERON:0001304	93.16	gold quality
esophagus squamous epithelium	UBERON:0006920	93.00	gold quality
cartilage tissue	UBERON:0002418	92.65	gold quality
epithelial cell of pancreas	CL:0000083	92.03	gold quality
calcaneal tendon	UBERON:0003701	91.54	gold quality
body of pancreas	UBERON:0001150	91.44	gold quality
endothelial cell	CL:0000115	90.73	gold quality
pancreas	UBERON:0001264	90.68	gold quality
tendon	UBERON:0000043	90.59	gold quality
squamous epithelium	UBERON:0006914	90.52	gold quality
jejunal mucosa	UBERON:0000399	90.38	gold quality
saliva-secreting gland	UBERON:0001044	90.15	gold quality
adenohypophysis	UBERON:0002196	89.98	gold quality
pituitary gland	UBERON:0000007	89.88	gold quality
islet of Langerhans	UBERON:0000006	89.71	gold quality
mucosa of stomach	UBERON:0001199	89.56	gold quality
visceral pleura	UBERON:0002401	89.49	gold quality
tendon of biceps brachii	UBERON:0008188	89.43	silver quality
gingival epithelium	UBERON:0001949	89.39	gold quality
prostate gland	UBERON:0002367	89.38	gold quality
upper arm skin	UBERON:0004263	89.22	gold quality
parietal pleura	UBERON:0002400	89.16	gold quality
right lung	UBERON:0002167	89.13	gold quality
epithelium of esophagus	UBERON:0001976	89.12	gold quality
pleura	UBERON:0000977	89.05	gold quality

Single-cell (SCXA)

Detected in 1 experiment(s), a significant marker in 1.

Experiment	Marker?	Max mean expression
E-ANND-3	yes	5.58

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

62 targeting VPS54, 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-340-5P	100.00	72.50	4437
HSA-MIR-5692A	100.00	74.40	6850
HSA-MIR-146A-5P	99.96	68.93	988
HSA-MIR-146B-5P	99.96	69.13	977
HSA-MIR-5688	99.96	73.23	4504
HSA-MIR-495-3P	99.96	72.81	4197
HSA-MIR-7153-5P	99.94	68.89	1006
HSA-MIR-145-5P	99.92	71.13	1836
HSA-MIR-5195-3P	99.92	70.92	1877
HSA-MIR-3686	99.90	70.53	2432
HSA-MIR-3180-5P	99.82	69.12	2422
HSA-MIR-6875-3P	99.82	70.26	2983
HSA-MIR-4659A-3P	99.80	72.62	4248
HSA-MIR-4659B-3P	99.80	72.62	4248
HSA-MIR-139-5P	99.80	69.50	1399
HSA-MIR-448	99.79	72.37	2103
HSA-MIR-4517	99.76	69.19	1867
HSA-MIR-187-5P	99.74	70.26	1404
HSA-MIR-10393-3P	99.72	66.56	961
HSA-MIR-6801-5P	99.72	66.50	981
HSA-MIR-1179	99.71	68.70	1040
HSA-MIR-4677-5P	99.70	70.09	1940
HSA-MIR-2053	99.57	69.15	1635
HSA-MIR-5004-3P	99.54	68.27	1371
HSA-MIR-5007-3P	99.51	68.14	1242
HSA-MIR-4452	99.50	68.45	1493
HSA-MIR-4325	99.49	72.20	1342
HSA-MIR-142-5P	99.48	70.92	2416
HSA-MIR-5590-3P	99.48	70.91	2429
HSA-MIR-3123	99.47	67.15	2693

Functional genomics

DepMap (CRISPR cell-line fitness): dependent in 45.4% of screened cell lines.

Literature-anchored findings (GeneRIF, showing 7)

• PMID:12039048 mostly pertains to mouse and rat but contains some general comments about the structure and function of Vps54 homolog in other species, including human. (PMID:12039048)
• Golgi associated retrograde protein complex, consisting of the Vps52, Vps53, and Vps54 proteins, shows significant conservation between various species but diversification and specialization result in important differences in human cells. (PMID:15878329)
• Missorting of cathepsin D in GARP-depleted cells results from accumulation of recycling MPRs in a population of light, small vesicles downstream of endosomes. (PMID:18367545)
• mutations in VPS54 are not a major cause of ALS (amyotrophic lateral sclerosis) (PMID:18574757)
• Golgi-associated retrograde protein orchestrates retrograde transport from endosomes to the trans-Golgi network by promoting vesicle tethering and assembly of SNARE complexes in consecutive, independent steps.[Golgi associated retrograde protein] (PMID:19620288)
• Severely reduced levels of mutant Vps54 and, consequently, of the whole GARP complex underlie the phenotype of the wobbler mouse. (PMID:20615984)
• This study suggests that VPS54 mutations are not a common cause of Amyotrophic Lateral Sclerosis in Italian population (PMID:21087364)

Cross-species orthologs

5 orthologs

Organism	Symbol	Gene ID
danio_rerio	vps54	ENSDARG00000102960
mus_musculus	Vps54	ENSMUSG00000020128
rattus_norvegicus	Vps54	ENSRNOG00000007125
drosophila_melanogaster	scat	FBGN0011232
caenorhabditis_elegans		WBGENE00006934

Protein

Protein identifiers

Vacuolar protein sorting-associated protein 54 — Q9P1Q0 (reviewed: Q9P1Q0)

Alternative names: Hepatocellular carcinoma protein 8, Tumor antigen HOM-HCC-8, Tumor antigen SLP-8p

All UniProt accessions (2): Q9P1Q0, A0A0A0MT48

UniProt curated annotations — full annotation on UniProt →

Function. Acts as a component of the GARP complex that is involved in retrograde transport from early and late endosomes to the trans-Golgi network (TGN). The GARP complex is required for the maintenance of the cycling of mannose 6-phosphate receptors between the TGN and endosomes, this cycling is necessary for proper lysosomal sorting of acid hydrolases such as CTSD. Within the GARP complex, required to tether the complex to the TGN. Not involved in endocytic recycling.

Subunit / interactions. Component of the Golgi-associated retrograde protein (GARP) complex, also called VFT (VPS fifty-three) complex, composed of VPS51, VPS52, VPS53 and VPS54. EIPR1 interacts with GARP complex and mediates its recruitment to the trans-Golgi network. Interacts with VPS51 in an EIPR1-independent manner.

Subcellular location. Golgi apparatus. trans-Golgi network. Membrane.

Similarity. Belongs to the VPS54 family.

Isoforms (5)

UniProt ID	Names	Canonical?
Q9P1Q0-1	1	yes
Q9P1Q0-2	2
Q9P1Q0-3	3
Q9P1Q0-4	4
Q9P1Q0-5	5

RefSeq proteins (2): NP_001005739, NP_057600* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR012501	Vps54_C	Domain
IPR019515	VPS54_N	Domain
IPR039745	Vps54	Family

Pfam: PF07928, PF10475

UniProt features (24 total): sequence conflict 9, splice variant 6, coiled-coil region 3, sequence variant 2, chain 1, region of interest 1, compositionally biased region 1, modified residue 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q9P1Q0-F1	75.50	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.

Post-translational modifications (1): 8

Function

Pathways and Gene Ontology

Reactome pathways

1 pathways

ID	Pathway
R-HSA-6811440	Retrograde transport at the Trans-Golgi-Network

MSigDB gene sets: 0 (showing top):

GO Biological Process (48): in utero embryonic development (GO:0001701), apoptotic DNA fragmentation (GO:0006309), protein targeting to lysosome (GO:0006622), intracellular calcium ion homeostasis (GO:0006874), Golgi to vacuole transport (GO:0006896), striated muscle contraction (GO:0006941), mitochondrion organization (GO:0007005), vacuole organization (GO:0007033), lysosomal transport (GO:0007041), neuromuscular synaptic transmission (GO:0007274), gene expression (GO:0010467), ubiquitin recycling (GO:0010992), microglia differentiation (GO:0014004), respiratory electron transport chain (GO:0022904), sphingolipid catabolic process (GO:0030149), protein localization to cell surface (GO:0034394), post-embryonic forelimb morphogenesis (GO:0035128), synaptic transmission, glutamatergic (GO:0035249), regulation of growth (GO:0040008), retrograde transport, endosome to Golgi (GO:0042147), protein targeting to ER (GO:0045047), response to antibiotic (GO:0046677), spermatid differentiation (GO:0048515), skeletal muscle tissue growth (GO:0048630), astrocyte differentiation (GO:0048708), neuron projection morphogenesis (GO:0048812), homeostasis of number of cells within a tissue (GO:0048873), musculoskeletal movement (GO:0050881), response to calcium ion (GO:0051592), synaptic transmission, GABAergic (GO:0051932), L-glutamate import (GO:0051938), neurofilament cytoskeleton organization (GO:0060052), motor behavior (GO:0061744), thrombin-activated receptor signaling pathway (GO:0070493), cellular response to progesterone stimulus (GO:0071393), vesicle-mediated cholesterol transport (GO:0090119), motor neuron apoptotic process (GO:0097049), neural tissue regeneration (GO:0097719), neuroinflammatory response (GO:0150076), negative regulation of motor neuron apoptotic process (GO:2000672)

GO Molecular Function (2): syntaxin binding (GO:0019905), protein binding (GO:0005515)

GO Cellular Component (11): GARP complex (GO:0000938), nucleoplasm (GO:0005654), mitochondrion (GO:0005739), Golgi apparatus (GO:0005794), trans-Golgi network (GO:0005802), cytosol (GO:0005829), membrane (GO:0016020), trans-Golgi network membrane (GO:0032588), synapse (GO:0045202), perinuclear region of cytoplasm (GO:0048471), cytoplasm (GO:0005737)

Reactome top-level categories

Rollup of top-1 pathways:

Category	Pathways
Intra-Golgi and retrograde Golgi-to-ER traffic	1

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
cellular anatomical structure	5
cytoplasm	4
vacuolar transport	2
intercellular transport	2
organelle organization	2
chemical synaptic transmission	2
intracellular membrane-bounded organelle	2
chordate embryonic development	1
DNA catabolic process	1
apoptotic nuclear changes	1
protein targeting to vacuole	1
lysosomal transport	1
protein localization to lysosome	1
intracellular monoatomic cation homeostasis	1
calcium ion homeostasis	1
post-Golgi vesicle-mediated transport	1
muscle contraction	1
macromolecule biosynthetic process	1
cellular homeostasis	1
central nervous system development	1
glial cell differentiation	1
macrophage differentiation	1
electron transport chain	1
cellular respiration	1
sphingolipid metabolic process	1
lipid catabolic process	1
intracellular protein localization	1
post-embryonic limb morphogenesis	1
forelimb morphogenesis	1
growth	1
regulation of biological process	1
endosomal transport	1
cytosolic transport	1
SNARE binding	1
binding	1
Golgi apparatus	1
cytoplasmic vesicle	1
vesicle tethering complex	1
nuclear lumen	1
endomembrane system	1

Protein interactions and networks

STRING

1306 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
VPS54	VPS53	Q5VIR6	998
VPS54	VPS52	Q8N1B4	997
VPS54	VPS51	Q9UID3	997
VPS54	STX16	O14662	857
VPS54	VPS50	Q96JG6	811
VPS54	STX6	O43752	801
VPS54	VAMP4	O75379	761
VPS54	COG4	Q9H9E3	709
VPS54	EXOC6	Q8TAG9	668
VPS54	COG8	Q96MW5	662
VPS54	COG2	Q14746	641
VPS54	COG3	Q96JB2	627
VPS54	ARL5A	Q9Y689	625
VPS54	COG5	Q9UP83	623
VPS54	VPS45	Q9NRW7	616

IntAct

25 interactions, top by confidence:

A	B	Type	Score
VPS50	EIPR1	psi-mi:“MI:0914”(association)	0.730
VPS53	VPS54	psi-mi:“MI:0915”(physical association)	0.670
COG6	EXOC5	psi-mi:“MI:0914”(association)	0.530
VPS53	SNAP29	psi-mi:“MI:0914”(association)	0.530
EIPR1	LDHC	psi-mi:“MI:0914”(association)	0.530
EIPR1	TCP1	psi-mi:“MI:0914”(association)	0.530
NRAS	ESYT2	psi-mi:“MI:2364”(proximity)	0.480
VPS54	PPP1CA	psi-mi:“MI:0407”(direct interaction)	0.440
VPS54	IKBIP	psi-mi:“MI:0915”(physical association)	0.400
VPS51	SNAP29	psi-mi:“MI:0914”(association)	0.350
VPS53	VPS52	psi-mi:“MI:0914”(association)	0.350
VPS52	VPS53	psi-mi:“MI:0914”(association)	0.350
M		psi-mi:“MI:0914”(association)	0.350
EFNA4	NBAS	psi-mi:“MI:0914”(association)	0.350
GINS2	INPPL1	psi-mi:“MI:0914”(association)	0.350
TXNDC2	H2AZ1	psi-mi:“MI:0914”(association)	0.350
GINS2	HARS2	psi-mi:“MI:0914”(association)	0.350
N		psi-mi:“MI:0914”(association)	0.350
TGOLN2	BLTP3B	psi-mi:“MI:2364”(proximity)	0.270
HRAS	ESYT2	psi-mi:“MI:2364”(proximity)	0.270
DYRK1A	VPS54	psi-mi:“MI:0915”(physical association)	0.000
DSCAM	VPS54	psi-mi:“MI:0915”(physical association)	0.000
DSCR9	VPS54	psi-mi:“MI:0915”(physical association)	0.000

BioGRID (65): VPS54 (Affinity Capture-MS), VPS54 (Affinity Capture-MS), VPS54 (Affinity Capture-MS), VPS54 (Affinity Capture-MS), VPS54 (Synthetic Lethality), VPS54 (Synthetic Lethality), VPS54 (Synthetic Lethality), VPS54 (Synthetic Lethality), VPS54 (Synthetic Lethality), VPS54 (Affinity Capture-MS), VPS54 (Affinity Capture-MS), VPS54 (Affinity Capture-MS), VPS54 (Affinity Capture-RNA), VPS54 (Affinity Capture-MS), VPS54 (Affinity Capture-MS)

ESM2 similar proteins: A0A0R4IES7, A0JN62, A2AAE1, A2RV80, A4IFQ0, A6QQW8, F1Q8X5, O35382, P48553, P70398, Q08BT5, Q13769, Q2LD37, Q5F361, Q5R903, Q5RAQ5, Q5REX9, Q62824, Q68FX7, Q6DFZ1, Q6IC98, Q6NRC7, Q6P6Y1, Q6SP92, Q6ZWH5, Q7SXV1, Q7TSG1, Q7Z7G8, Q80TY5, Q8BHY8, Q8BKT7, Q8BQZ4, Q8CB44, Q8CIB5, Q8K3W0, Q8N960, Q8WN69, Q8WN70, Q91W96, Q92538

Diamond homologs: Q5SPW0, Q9JMK8, Q9P1Q0, Q9VLC0

SIGNOR signaling

0 interactions.

Enriched among interaction partners

Reactome pathways and GO biological processes over-represented among this gene’s 29 IntAct physical interaction partners (hypergeometric vs the genome-wide background, BH-FDR, gene-set size 15–500, ranked by fold). A functional readout of the neighbourhood — distinct from this gene’s own memberships above, and biased toward well-studied / hub proteins, so read it as themes rather than proof.

Reactome pathways:

Pathway	Partners	Fold	FDR
Retrograde transport at the Trans-Golgi-Network	5	47.7×	7e-06

GO biological processes:

GO term	Partners	Fold	FDR
endocytic recycling	5	53.5×	5e-06
protein transport	7	12.3×	6e-05

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	0
Uncertain significance	114
Likely benign	5
Benign	7

Top pathogenic / likely-pathogenic (0)

SpliceAI

4396 predictions. Top by Δscore:

Variant	Effect	Δscore
2:63899468:TCTCA:T	donor_loss	1.0000
2:63899469:CTCAC:C	donor_loss	1.0000
2:63899470:TCA:T	donor_loss	1.0000
2:63899471:CACCT:C	donor_loss	1.0000
2:63899473:C:CG	donor_loss	1.0000
2:63899582:C:CC	acceptor_gain	1.0000
2:63912339:CATTA:C	donor_loss	1.0000
2:63912340:ATTAC:A	donor_loss	1.0000
2:63912341:TTACC:T	donor_loss	1.0000
2:63912342:TACCT:T	donor_loss	1.0000
2:63912344:C:CT	donor_loss	1.0000
2:63912422:AGTCC:A	acceptor_loss	1.0000
2:63912426:C:CG	acceptor_loss	1.0000
2:63912427:T:A	acceptor_loss	1.0000
2:63912535:AGTAC:A	donor_loss	1.0000
2:63912536:GTACC:G	donor_loss	1.0000
2:63912537:TAC:T	donor_loss	1.0000
2:63912538:ACC:A	donor_loss	1.0000
2:63912677:G:GC	acceptor_gain	1.0000
2:63912681:A:AC	acceptor_gain	1.0000
2:63912681:A:C	acceptor_gain	1.0000
2:63912683:A:AC	acceptor_gain	1.0000
2:63912683:A:C	acceptor_gain	1.0000
2:63912685:A:AC	acceptor_gain	1.0000
2:63912688:A:AC	acceptor_gain	1.0000
2:63912696:A:AC	acceptor_gain	1.0000
2:63912696:A:C	acceptor_gain	1.0000
2:63914178:ATAC:A	donor_loss	1.0000
2:63914179:TA:T	donor_loss	1.0000
2:63914180:A:AC	donor_gain	1.0000

AlphaMissense

6447 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
2:63913240:A:T	I802K	1.000
2:63919971:C:A	W692C	1.000
2:63919971:C:G	W692C	1.000
2:63919973:A:G	W692R	1.000
2:63919973:A:T	W692R	1.000
2:63893530:A:T	V945D	0.999
2:63912390:C:A	K860N	0.999
2:63912390:C:G	K860N	0.999
2:63912392:T:C	K860E	0.999
2:63912647:A:G	C813R	0.999
2:63912658:A:G	L809P	0.999
2:63912661:G:T	A808D	0.999
2:63913225:A:C	L807W	0.999
2:63913225:A:G	L807S	0.999
2:63913240:A:C	I802R	0.999
2:63913240:A:G	I802T	0.999
2:63913246:T:A	K800I	0.999
2:63913249:A:G	L799P	0.999
2:63913276:C:T	G790E	0.999
2:63913277:C:G	G790R	0.999
2:63913277:C:T	G790R	0.999
2:63913279:A:G	L789P	0.999
2:63913282:A:T	V788D	0.999
2:63913302:A:C	N781K	0.999
2:63913302:A:T	N781K	0.999
2:63919957:A:T	V697D	0.999
2:63919972:C:G	W692S	0.999
2:63920449:A:G	L683P	0.999
2:63962368:C:G	A234P	0.999
2:63962430:A:G	L213P	0.999

dbSNP variants (sampled 300 via entrez): RS1000004378 (2:63970695 A>G), RS1000035797 (2:63995674 G>A), RS1000047525 (2:63902352 A>G), RS1000052236 (2:64014397 G>A), RS1000105195 (2:64010106 T>C), RS1000105758 (2:63946951 TA>T), RS1000107222 (2:63976659 C>G), RS1000135843 (2:63964265 C>A), RS1000139460 (2:64009986 C>T), RS1000141806 (2:63898244 G>C), RS1000167372 (2:63926582 G>A), RS1000171602 (2:63975705 A>G), RS1000188802 (2:63964475 C>T), RS1000189324 (2:63955473 T>C), RS1000197970 (2:63926463 A>C)

Disease associations

OMIM: gene MIM:614633 | 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
GCST002595_21	Clozapine-induced agranulocytosis	7.000000e-06
GCST006627_45	Diastolic blood pressure	2.000000e-11

EFO canonical traits (1, from GWAS)

EFO ID	Trait name
EFO:0006336	diastolic blood pressure

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

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

CTD chemical–gene interactions

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

Chemical	Actions (top 5)	PubMed papers
aristolochic acid I	decreases expression	1
dicrotophos	decreases expression	1
triphenyl phosphate	affects expression	1
trichostatin A	affects expression	1
arsenite	affects binding, decreases reaction	1
sodium arsenite	increases expression	1
potassium chromate(VI)	affects cotreatment, decreases expression	1
aflatoxin B2	decreases methylation	1
epigallocatechin gallate	affects cotreatment, decreases expression	1
CGP 52608	affects binding, increases reaction	1
2-palmitoylglycerol	increases expression	1
jinfukang	decreases expression	1
Resveratrol	affects cotreatment, increases expression	1
Sunitinib	increases expression	1
Acetaminophen	decreases expression	1
Air Pollutants	decreases expression, increases abundance	1
Air Pollutants, Occupational	affects expression	1
Arsenic	affects methylation	1
Cadmium	increases abundance, increases expression	1
Caffeine	decreases phosphorylation	1
Doxorubicin	decreases expression	1
Endosulfan	decreases expression	1
Formaldehyde	decreases expression	1
Hydrogen Peroxide	increases expression	1
Plant Extracts	increases expression, affects cotreatment	1
Quercetin	decreases expression	1
Valproic Acid	increases expression	1
7,8-Dihydro-7,8-dihydroxybenzo(a)pyrene 9,10-oxide	decreases expression	1
Cyclosporine	decreases expression	1
Aflatoxin M1	decreases expression	1

Cellosaurus cell lines

2 cell lines: 2 cancer cell line

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

Cellosaurus	Name	Category	Sex
CVCL_TX70	HAP1 VPS54 (-) 1	Cancer cell line	Male
CVCL_TX71	HAP1 VPS54 (-) 2	Cancer cell line	Male

Clinical trials (associated diseases)

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