VPS50

Summary

VPS50 (VPS50 subunit of EARP/GARPII complex, HGNC:25956) is a protein-coding gene on chromosome 7q21.2-q21.3, encoding Syndetin (Q96JG6). Acts as a component of the EARP complex that is involved in endocytic recycling.

Enables SNARE binding activity. Acts upstream of or within endocytic recycling. Located in recycling endosome. Part of EARP complex.

Source: NCBI Gene 55610 — RefSeq curated summary.

At a glance

• Gene–disease (curated): neurodevelopmental disorder with microcephaly, seizures, and neonatal cholestasis (Strong, GenCC)
• GWAS associations: 1
• Clinical variants (ClinVar): 151 total — 2 pathogenic, 5 likely-pathogenic
• Phenotypes (HPO): 22
• MANE Select transcript: NM_017667

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:25956
Approved symbol	VPS50
Name	VPS50 subunit of EARP/GARPII complex
Location	7q21.2-q21.3
Locus type	gene with protein product
Status	Approved
Aliases	KIAA1861, FLJ20097, DKFZp313I2429, VPS54L
Ensembl gene	ENSG00000004766
Ensembl biotype	protein_coding
OMIM	616465
Entrez	55610

Gene structure

Transcript identifiers

Ensembl transcripts: 33 — 18 protein_coding, 8 retained_intron, 4 nonsense_mediated_decay, 3 protein_coding_CDS_not_defined

ENST00000251739, ENST00000305866, ENST00000436177, ENST00000438395, ENST00000441602, ENST00000443443, ENST00000458530, ENST00000458707, ENST00000467326, ENST00000471188, ENST00000474412, ENST00000476413, ENST00000477572, ENST00000477935, ENST00000480943, ENST00000484954, ENST00000485140, ENST00000485994, ENST00000495039, ENST00000544910, ENST00000649152, ENST00000869628, ENST00000869629, ENST00000869630, ENST00000869631, ENST00000869632, ENST00000869633, ENST00000920042, ENST00000963423, ENST00000963424, ENST00000963425, ENST00000963426, ENST00000963427

RefSeq mRNA: 3 — MANE Select: NM_017667 NM_001257998, NM_017667, NM_024553

CCDS: CCDS43617, CCDS5630, CCDS59065

Canonical transcript exons

ENST00000305866 — 28 exons

Exon	Start	End
ENSE00001349954	93349875	93350033
ENSE00001879893	93358317	93361123
ENSE00003468743	93271220	93271262
ENSE00003469430	93272635	93272733
ENSE00003479133	93256509	93256562
ENSE00003483098	93353640	93353761
ENSE00003492725	93239866	93239934
ENSE00003511769	93355891	93356080
ENSE00003530590	93341427	93341575
ENSE00003533024	93303460	93303550
ENSE00003534212	93334117	93334197
ENSE00003540140	93305828	93306004
ENSE00003543253	93291703	93291835
ENSE00003554361	93323611	93323732
ENSE00003556503	93276165	93276305
ENSE00003556643	93311166	93311272
ENSE00003562954	93297145	93297243
ENSE00003566532	93294545	93294636
ENSE00003573662	93296742	93296836
ENSE00003592176	93232366	93232500
ENSE00003592963	93258159	93258276
ENSE00003599572	93259550	93259632
ENSE00003605983	93308824	93308942
ENSE00003633039	93257394	93257464
ENSE00003649318	93253860	93253931
ENSE00003649326	93252653	93252775
ENSE00003687917	93258357	93258392
ENSE00003692642	93348711	93348807

Expression profiles

Bgee: expression breadth ubiquitous, 257 present calls, max score 95.97.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 23.6909 / max 488.0229, expressed in 1802 samples.

FANTOM5 promoters (2 alternative TSS)

Promoter ID	TPM avg	Samples expressed
79554	23.6867	1802
79555	0.0042	1

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
calcaneal tendon	UBERON:0003701	95.97	gold quality
endothelial cell	CL:0000115	94.74	gold quality
tibialis anterior	UBERON:0001385	94.49	gold quality
adrenal tissue	UBERON:0018303	94.47	gold quality
Brodmann (1909) area 46	UBERON:0006483	93.35	gold quality
middle temporal gyrus	UBERON:0002771	92.11	gold quality
tendon	UBERON:0000043	91.92	gold quality
cortical plate	UBERON:0005343	91.55	gold quality
Brodmann (1909) area 23	UBERON:0013554	90.97	gold quality
secondary oocyte	CL:0000655	90.78	gold quality
superior frontal gyrus	UBERON:0002661	90.50	gold quality
postcentral gyrus	UBERON:0002581	90.38	gold quality
sperm	CL:0000019	90.37	gold quality
primordial germ cell in gonad	CL:0000670 ∩ UBERON:0000991	90.33	gold quality
ileal mucosa	UBERON:0000331	90.29	gold quality
oocyte	CL:0000023	90.27	gold quality
colonic epithelium	UBERON:0000397	90.12	gold quality
prefrontal cortex	UBERON:0000451	89.96	gold quality
left ventricle myocardium	UBERON:0006566	89.72	gold quality
oviduct epithelium	UBERON:0004804	89.50	gold quality
deltoid	UBERON:0001476	89.08	silver quality
mucosa of sigmoid colon	UBERON:0004993	88.68	gold quality
frontal cortex	UBERON:0001870	88.51	gold quality
rectum	UBERON:0001052	88.28	gold quality
bone marrow cell	CL:0002092	88.27	gold quality
dorsolateral prefrontal cortex	UBERON:0009834	88.04	gold quality
colonic mucosa	UBERON:0000317	87.94	gold quality
parietal lobe	UBERON:0001872	87.94	gold quality
neocortex	UBERON:0001950	87.90	gold quality
right hemisphere of cerebellum	UBERON:0014890	87.74	gold quality

Single-cell (SCXA)

Detected in 1 experiment(s), a significant marker in 0.

Experiment	Marker?	Max mean expression
E-ANND-3	no	6.57

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

109 targeting VPS50, 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-3163	100.00	77.23	8605
HSA-MIR-340-5P	100.00	72.50	4437
HSA-MIR-3613-3P	100.00	76.36	7965
HSA-MIR-4668-3P	100.00	68.74	2635
HSA-MIR-8485	100.00	77.57	4731
HSA-MIR-371B-5P	99.99	75.34	4759
HSA-MIR-4534	99.99	66.58	1907
HSA-MIR-548C-3P	99.99	74.01	7587
HSA-MIR-5696	99.98	72.36	4487
HSA-MIR-373-5P	99.98	75.36	4753
HSA-MIR-616-5P	99.98	75.58	4775
HSA-MIR-548N	99.98	71.94	4170
HSA-MIR-3065-5P	99.97	71.56	3281
HSA-MIR-3605-5P	99.96	67.12	932
HSA-MIR-3658	99.96	73.87	4379
HSA-MIR-1305	99.91	71.43	3443
HSA-MIR-5680	99.91	69.83	3421
HSA-MIR-3529-3P	99.90	73.55	3045
HSA-MIR-3686	99.90	70.53	2432
HSA-MIR-548E-5P	99.89	72.73	4486
HSA-MIR-153-5P	99.89	73.86	6317
HSA-MIR-548D-3P	99.87	70.67	4362
HSA-MIR-579-3P	99.86	71.66	3628
HSA-MIR-548BB-3P	99.86	70.58	4354
HSA-MIR-664B-3P	99.84	71.65	3590
HSA-MIR-548AC	99.84	70.77	4351
HSA-MIR-548H-3P	99.84	70.80	4349
HSA-MIR-548Z	99.84	70.80	4349
HSA-MIR-548AZ-5P	99.83	69.94	3230
HSA-MIR-548T-5P	99.83	69.91	3220

Literature-anchored findings (GeneRIF, showing 1)

• Biallelic variants in VPS50 cause a neurodevelopmental disorder with neonatal cholestasis. (PMID:34037727)

Cross-species orthologs

6 orthologs

Organism	Symbol	Gene ID
danio_rerio	vps50	ENSDARG00000002880
danio_rerio	vps50	ENSDARG00000096912
mus_musculus	Vps50	ENSMUSG00000001376
rattus_norvegicus	Vps50	ENSRNOG00000009894
drosophila_melanogaster	Vps50	FBGN0034271
caenorhabditis_elegans		WBGENE00008078

Protein

Protein identifiers

Syndetin — Q96JG6 (reviewed: Q96JG6)

Alternative names: Coiled-coil domain-containing protein 132, EARP/GARPII complex subunit VPS50

All UniProt accessions (8): Q96JG6, A0A3B3IRQ5, B4DS55, C9JA29, F2Z3F0, F8WDT1, H0Y7Q2, H7BZP1

UniProt curated annotations — full annotation on UniProt →

Function. Acts as a component of the EARP complex that is involved in endocytic recycling. The EARP complex associates with Rab4-positive endosomes and promotes recycling of internalized transferrin receptor (TFRC) to the plasma membrane. Within the EARP complex, required to tether the complex to recycling endosomes. Not involved in retrograde transport from early and late endosomes to the trans-Golgi network (TGN).

Subunit / interactions. Component of the endosome-associated retrograde protein (EARP) complex, composed of VPS51, VPS52, VPS53 and VPS50/Syndetin. The EARP complex interacts with EIPR1. Interacts with VPS51 and VPS53 in an EIPR1-independent manner.

Subcellular location. Recycling endosome. Membrane.

Tissue specificity. Ubiquitous, with higher expression in brain and skeletal muscle.

Disease relevance. Neurodevelopmental disorder with microcephaly, seizures, and neonatal cholestasis (NEDMSC) [MIM:619685] An autosomal recessive disorder with onset at birth, characterized by severe global developmental delay, profoundly impaired intellectual development, progressive microcephaly, seizures, and transient neonatal cholestasis. Brain imaging shows agenesis or hypoplasia of the corpus callosum. Death in early childhood may occur. The disease may be caused by variants affecting the gene represented in this entry.

Miscellaneous. Was named ‘syndetin’ after the Greek ‘syndeo’, which means ‘connect’ or ’tether’.

Similarity. Belongs to the syndetin family.

Isoforms (3)

UniProt ID	Names	Canonical?
Q96JG6-1	1	yes
Q96JG6-2	2
Q96JG6-3	3

RefSeq proteins (3): NP_001244927, NP_060137, NP_078829 (=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR019514	Syndetin_C	Domain
IPR019515	VPS54_N	Domain
IPR040047	VPS50	Family

Pfam: PF10474, PF10475

UniProt features (22 total): modified residue 6, sequence conflict 4, splice variant 3, region of interest 2, cross-link 2, coiled-coil region 2, chain 1, sequence variant 1, compositionally biased region 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q96JG6-F1	71.19	0.10

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 (8): 559, 561, 963, 963, 1, 15, 494, 498

Function

Pathways and Gene Ontology

Reactome pathways

0 pathways

MSigDB gene sets: 221 (showing top): GSE45365_CD8A_DC_VS_CD11B_DC_IFNAR_KO_UP, GSE45365_NK_CELL_VS_CD8A_DC_MCMV_INFECTION_DN, RODRIGUES_THYROID_CARCINOMA_ANAPLASTIC_UP, RODRIGUES_THYROID_CARCINOMA_POORLY_DIFFERENTIATED_UP, GOBP_VESICLE_MEDIATED_TRANSPORT, USF_C, PATIL_LIVER_CANCER, MODULE_239, GFI1_01, GOBP_ENDOCYTIC_RECYCLING, GOBP_RETROGRADE_TRANSPORT_ENDOSOME_TO_GOLGI, GOBP_LOCALIZATION_WITHIN_MEMBRANE, GOBP_CYTOSOLIC_TRANSPORT, GOCC_RECYCLING_ENDOSOME, VECCHI_GASTRIC_CANCER_EARLY_UP

GO Biological Process (3): protein transport (GO:0015031), endocytic recycling (GO:0032456), retrograde transport, endosome to Golgi (GO:0042147)

GO Molecular Function (2): SNARE binding (GO:0000149), protein binding (GO:0005515)

GO Cellular Component (7): membrane (GO:0016020), perinuclear region of cytoplasm (GO:0048471), recycling endosome (GO:0055037), extracellular exosome (GO:0070062), EARP complex (GO:1990745), endosome (GO:0005768), cytosol (GO:0005829)

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
cellular anatomical structure	3
endosomal transport	2
cytoplasm	2
transport	1
intracellular protein localization	1
establishment of protein localization	1
vesicle-mediated transport to the plasma membrane	1
intercellular transport	1
cytosolic transport	1
protein binding	1
binding	1
endosome	1
extracellular vesicle	1
protein-containing complex	1
recycling endosome	1
endomembrane system	1
cytoplasmic vesicle	1

Protein interactions and networks

STRING

1234 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
VPS50	VPS52	Q8N1B4	887
VPS50	VPS53	Q5VIR6	877
VPS50	VPS54	Q9P1Q0	811
VPS50	VPS51	Q9UID3	794
VPS50	HEPACAM2	A8MVW5	652
VPS50	EIPR1	Q53HC9	645
VPS50	CCDC186	Q7Z3E2	626
VPS50	RUNDC1	Q96C34	541
VPS50	CCDC138	Q96M89	518
VPS50	PCED1A	Q9H1Q7	507
VPS50	RABL6	Q3YEC7	489
VPS50	STX6	O43752	467
VPS50	ARFRP1	Q13795	464
VPS50	FAM133B	Q5BKY9	463
VPS50	DYM	Q7RTS9	461

IntAct

98 interactions, top by confidence:

A	B	Type	Score
VPS50	VPS53	psi-mi:“MI:0914”(association)	0.840
VPS53	VPS50	psi-mi:“MI:0915”(physical association)	0.840
VPS52	VPS50	psi-mi:“MI:0915”(physical association)	0.830
VPS50	EIPR1	psi-mi:“MI:0914”(association)	0.730
VPS51	VPS50	psi-mi:“MI:0915”(physical association)	0.640
SLC39A9	B4GALT5	psi-mi:“MI:0914”(association)	0.530
APLNR	METTL15	psi-mi:“MI:0914”(association)	0.530
VPS53	SNAP29	psi-mi:“MI:0914”(association)	0.530
DHH	HSPA5	psi-mi:“MI:0914”(association)	0.530
TMEM9	ESYT2	psi-mi:“MI:0914”(association)	0.530
NPTN	TNPO2	psi-mi:“MI:0914”(association)	0.530
EIPR1	TCP1	psi-mi:“MI:0914”(association)	0.530
ANKRD22	ESYT2	psi-mi:“MI:0914”(association)	0.530
SLC30A4	OPA1	psi-mi:“MI:0914”(association)	0.530
VPS50	CTNNBL1	psi-mi:“MI:0915”(physical association)	0.400
Ccdc9	ACIN1	psi-mi:“MI:0914”(association)	0.350
VPS50	PHF20L1	psi-mi:“MI:0914”(association)	0.350
HSCB	RBP5	psi-mi:“MI:0914”(association)	0.350
VPS51	SNAP29	psi-mi:“MI:0914”(association)	0.350
VPS53	VPS52	psi-mi:“MI:0914”(association)	0.350
VPS50	STX16	psi-mi:“MI:0914”(association)	0.350
VPS52	VPS53	psi-mi:“MI:0914”(association)	0.350

BioGRID (171): CCDC132 (Affinity Capture-MS), CCDC132 (Affinity Capture-MS), VPS53 (Affinity Capture-MS), VPS54 (Affinity Capture-MS), VPS52 (Affinity Capture-MS), VPS51 (Affinity Capture-MS), TSSC1 (Affinity Capture-MS), AMBRA1 (Affinity Capture-MS), CCDC132 (Affinity Capture-MS), VPS51 (Co-fractionation), VPS53 (Co-fractionation), CCDC132 (Affinity Capture-MS), CCDC132 (Proximity Label-MS), VPS51 (Affinity Capture-MS), CRABP2 (Affinity Capture-MS)

ESM2 similar proteins: A2A432, A6H5Z3, A9X1D0, B0VX69, B1MTJ4, B2KI88, B5FW36, C1FXW2, E2R766, E2RBS6, F1LSG8, O43242, O54923, O55047, O70133, P60762, Q13098, Q13619, Q13620, Q29425, Q2KJ46, Q3TCH7, Q4V860, Q5NVP9, Q5R5J4, Q5RAN1, Q5RB36, Q5VIR6, Q5ZKV9, Q5ZLD7, Q5ZML9, Q6AYU1, Q6NRT5, Q6NZH6, Q86TU7, Q8CCB4, Q8CI71, Q8K4Q0, Q8N122, Q8R3S6

Diamond homologs: F1LSG8, Q5ZKV9, Q8CI71, Q96JG6

SIGNOR signaling

0 interactions.

Enriched among interaction partners

Reactome pathways and GO biological processes over-represented among this gene’s 97 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.

GO biological processes:

GO term	Partners	Fold	FDR
endocytic recycling	6	18.7×	2e-04
protein transport	14	7.1×	5e-06

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	2
Likely pathogenic	5
Uncertain significance	89
Likely benign	9
Benign	2

Top pathogenic / likely-pathogenic (7)

Variant ID	HGVS	Classification
1331700	NM_017667.4(VPS50):c.1978-1G>T	Pathogenic
1331701	NM_017667.4(VPS50):c.1823_1825del (p.Thr608del)	Pathogenic
3064458	NM_017667.4(VPS50):c.1705C>T (p.Arg569Ter)	Likely pathogenic
3235924	NM_017667.4(VPS50):c.1723C>T (p.Gln575Ter)	Likely pathogenic
3388705	NM_017667.4(VPS50):c.2464-1G>C	Likely pathogenic
3388706	NM_017667.4(VPS50):c.2208-2A>G	Likely pathogenic
4535162	NM_017667.4(VPS50):c.1739del (p.Pro580fs)	Likely pathogenic

SpliceAI

4795 predictions. Top by Δscore:

Variant	Effect	Δscore
7:93252717:G:GG	donor_gain	1.0000
7:93252728:G:GG	donor_gain	1.0000
7:93252773:G:GT	donor_gain	1.0000
7:93253842:A:AG	acceptor_gain	1.0000
7:93253842:AT:A	acceptor_gain	1.0000
7:93253843:T:G	acceptor_gain	1.0000
7:93253859:GA:G	acceptor_gain	1.0000
7:93253859:GAA:G	acceptor_gain	1.0000
7:93253929:GCA:G	donor_gain	1.0000
7:93253932:G:GG	donor_gain	1.0000
7:93256504:TATAG:T	acceptor_loss	1.0000
7:93256505:ATAGG:A	acceptor_loss	1.0000
7:93256506:TAGG:T	acceptor_loss	1.0000
7:93256507:A:AT	acceptor_loss	1.0000
7:93256560:AAGG:A	donor_loss	1.0000
7:93256561:AG:A	donor_loss	1.0000
7:93256562:G:GC	donor_loss	1.0000
7:93256563:GT:G	donor_loss	1.0000
7:93256564:T:G	donor_loss	1.0000
7:93258009:GCCAT:G	donor_gain	1.0000
7:93258355:A:AG	acceptor_gain	1.0000
7:93258356:G:GG	acceptor_gain	1.0000
7:93258356:GCAAA:G	acceptor_gain	1.0000
7:93258393:G:GA	donor_loss	1.0000
7:93258394:TAAG:T	donor_loss	1.0000
7:93259523:A:AG	acceptor_gain	1.0000
7:93259523:AAT:A	acceptor_gain	1.0000
7:93259628:ATAAG:A	donor_loss	1.0000
7:93259629:TAAG:T	donor_loss	1.0000
7:93259630:AAGG:A	donor_loss	1.0000

AlphaMissense

6390 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
7:93258257:T:C	L174P	1.000
7:93258266:T:A	I177K	1.000
7:93259568:G:C	A199P	1.000
7:93259569:C:A	A199D	1.000
7:93259602:C:A	A210D	1.000
7:93259629:T:A	I219K	1.000
7:93271225:T:C	L222P	1.000
7:93271237:T:C	L226P	1.000
7:93272642:T:C	L237P	1.000
7:93272654:T:C	L241P	1.000
7:93276181:T:C	L273P	1.000
7:93276229:T:A	V289D	1.000
7:93291732:C:G	C324W	1.000
7:93291743:T:C	L328P	1.000
7:93294631:T:A	W388R	1.000
7:93294631:T:C	W388R	1.000
7:93303477:T:C	L460P	1.000
7:93303485:T:C	F463L	1.000
7:93303487:C:A	F463L	1.000
7:93303487:C:G	F463L	1.000
7:93303498:A:T	E467V	1.000
7:93303503:T:A	W469R	1.000
7:93303503:T:C	W469R	1.000
7:93303505:G:C	W469C	1.000
7:93303505:G:T	W469C	1.000
7:93303519:T:A	V474D	1.000
7:93341563:C:A	A732D	1.000
7:93341571:T:C	S735P	1.000
7:93349977:T:A	W803R	1.000
7:93349977:T:C	W803R	1.000

dbSNP variants (sampled 300 via entrez): RS1000020324 (7:93321367 C>T), RS1000066698 (7:93359503 A>G), RS1000072921 (7:93330292 G>A), RS1000137743 (7:93293496 C>G), RS1000158572 (7:93297008 T>A,C), RS1000161789 (7:93337424 C>T), RS1000191947 (7:93258652 C>T), RS1000244150 (7:93258959 G>T), RS1000263088 (7:93327075 C>G), RS1000287036 (7:93237595 T>C), RS1000295578 (7:93309466 A>G), RS1000338730 (7:93237957 A>G), RS1000376566 (7:93293907 A>G), RS1000384218 (7:93337516 A>G), RS1000395327 (7:93250492 G>A)

Disease associations

OMIM: gene MIM:616465 | disease phenotypes: MIM:619685

GenCC curated gene-disease

Disease	Classification	Inheritance
neurodevelopmental disorder with microcephaly, seizures, and neonatal cholestasis	Strong	Autosomal recessive

Mondo (1): neurodevelopmental disorder with microcephaly, seizures, and neonatal cholestasis (MONDO:0859216)

Orphanet (0):

HPO phenotypes

22 total (22 of 22 shown, HPO-id order):

HPO	Term
HP:0000007	Autosomal recessive inheritance
HP:0000737	Irritability
HP:0001272	Cerebellar atrophy
HP:0001406	Intrahepatic cholestasis
HP:0002079	Hypoplasia of the corpus callosum
HP:0002179	Opisthotonus
HP:0002421	Poor head control
HP:0002904	Hyperbilirubinemia
HP:0003623	Neonatal onset
HP:0003819	Death in childhood
HP:0005484	Secondary microcephaly
HP:0008689	Bilateral cryptorchidism
HP:0010818	Generalized tonic seizure
HP:0011003	High myopia
HP:0011344	Severe global developmental delay
HP:0011968	Feeding difficulties
HP:0012202	Increased serum bile acid concentration
HP:0012595	Mild proteinuria
HP:0020045	Esodeviation
HP:0031956	Elevated circulating aspartate aminotransferase concentration
HP:0031964	Elevated circulating alanine aminotransferase concentration
HP:0040288	Nasogastric tube feeding

GWAS associations

1 associations (top):

Study	Trait	p-value
GCST009153_6	Adverse response to chemotherapy (amenorrhea) in breast cancer	8.000000e-07

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

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

CTD chemical–gene interactions

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

Chemical	Actions (top 5)	PubMed papers
trichostatin A	affects cotreatment, decreases expression	3
Valproic Acid	decreases expression, increases expression	2
Cadmium Chloride	increases expression, decreases reaction, increases abundance, increases palmitoylation	2
aristolochic acid I	decreases expression	1
FR900359	affects phosphorylation	1
bisphenol F	increases expression	1
TAK-243	decreases sumoylation	1
dicrotophos	decreases expression	1
geldanamycin	increases expression	1
triphenyl phosphate	affects expression	1
sodium arsenite	decreases expression	1
2-bromopalmitate	increases abundance, increases palmitoylation, decreases reaction	1
ochratoxin A	decreases expression	1
potassium chromate(VI)	affects cotreatment, decreases expression	1
coumarin	increases phosphorylation	1
epigallocatechin gallate	affects cotreatment, decreases expression	1
di-n-butylphosphoric acid	affects expression	1
perfluorooctane sulfonic acid	decreases expression	1
4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide	affects cotreatment, decreases expression	1
bisphenol B	increases expression	1
abrine	decreases expression	1
dorsomorphin	affects cotreatment, decreases expression	1
jinfukang	decreases expression	1
Resveratrol	increases expression, affects cotreatment	1
Sunitinib	decreases expression	1
Acetaminophen	decreases expression	1
Air Pollutants	increases abundance, decreases expression	1
Benzo(a)pyrene	decreases expression	1
Cadmium	decreases reaction, increases abundance, increases palmitoylation	1
Caffeine	affects phosphorylation	1

Cellosaurus cell lines

1 cell lines: 1 cancer cell line

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

Cellosaurus	Name	Category	Sex
CVCL_SH19	HAP1 CCDC132 (-)	Cancer cell line	Male

Clinical trials (associated diseases)

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