VPS36

Summary

VPS36 (vacuolar protein sorting 36 homolog, HGNC:20312) is a protein-coding gene on chromosome 13q14.3, encoding Vacuolar protein-sorting-associated protein 36 (Q86VN1). Component of the ESCRT-II complex (endosomal sorting complex required for transport II), which is required for multivesicular body (MVB) formation and sorting of endosomal cargo proteins into MVBs. It is a selective cancer dependency (DepMap: 15.9% of cell lines).

This gene encodes a protein that is a subunit of the endosomal sorting complex required for transport II (ESCRT-II). This protein complex functions in sorting of ubiquitinated membrane proteins during endocytosis. A similar protein complex in rat is associated with RNA polymerase elongation factor II.

Source: NCBI Gene 51028 — RefSeq curated summary.

At a glance

• GWAS associations: 1
• Clinical variants (ClinVar): 52 total
• Cancer dependency (DepMap): dependent in 15.9% of screened cell lines
• MANE Select transcript: NM_016075

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:20312
Approved symbol	VPS36
Name	vacuolar protein sorting 36 homolog
Location	13q14.3
Locus type	gene with protein product
Status	Approved
Aliases	CGI-145, Eap45
Ensembl gene	ENSG00000136100
Ensembl biotype	protein_coding
OMIM	610903
Entrez	51028

Gene structure

Transcript identifiers

Ensembl transcripts: 24 — 17 protein_coding, 4 protein_coding_CDS_not_defined, 2 retained_intron, 1 nonsense_mediated_decay

ENST00000378060, ENST00000462289, ENST00000475375, ENST00000480923, ENST00000492650, ENST00000497149, ENST00000611132, ENST00000649498, ENST00000650274, ENST00000888382, ENST00000888383, ENST00000888384, ENST00000888385, ENST00000888386, ENST00000888387, ENST00000888388, ENST00000888389, ENST00000888390, ENST00000888391, ENST00000948193, ENST00000948194, ENST00000948195, ENST00000948196, ENST00000948197

RefSeq mRNA: 3 — MANE Select: NM_016075 NM_001282168, NM_001282169, NM_016075

CCDS: CCDS73577, CCDS9434

Canonical transcript exons

ENST00000378060 — 14 exons

Exon	Start	End
ENSE00000923566	52416017	52416093
ENSE00000923567	52417057	52417141
ENSE00000923568	52417992	52418056
ENSE00000923569	52423574	52423639
ENSE00000923570	52425932	52426066
ENSE00000923572	52433662	52433748
ENSE00000923573	52434793	52434882
ENSE00003503392	52442377	52442445
ENSE00003504967	52439098	52439168
ENSE00003547681	52426989	52427066
ENSE00003652779	52427187	52427219
ENSE00003660160	52436290	52436404
ENSE00003844964	52412606	52415923
ENSE00003845990	52450499	52450634

Expression profiles

Bgee: expression breadth ubiquitous, 254 present calls, max score 97.69.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 19.5171 / max 215.3042, expressed in 1807 samples.

FANTOM5 promoters (1 alternative TSS)

Promoter ID	TPM avg	Samples expressed
137421	19.5171	1807

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
upper arm skin	UBERON:0004263	97.69	gold quality
ileal mucosa	UBERON:0000331	97.30	gold quality
skin of hip	UBERON:0001554	97.12	gold quality
upper leg skin	UBERON:0004262	97.05	gold quality
epithelial cell of pancreas	CL:0000083	96.52	gold quality
pancreatic ductal cell	CL:0002079	95.88	gold quality
tibialis anterior	UBERON:0001385	95.83	gold quality
endothelial cell	CL:0000115	95.54	gold quality
skin of abdomen	UBERON:0001416	95.23	gold quality
zone of skin	UBERON:0000014	94.64	gold quality
skin of leg	UBERON:0001511	94.63	gold quality
gingival epithelium	UBERON:0001949	94.36	gold quality
deltoid	UBERON:0001476	94.34	gold quality
Brodmann (1909) area 23	UBERON:0013554	93.80	gold quality
rectum	UBERON:0001052	93.68	gold quality
calcaneal tendon	UBERON:0003701	93.44	gold quality
cerebellar vermis	UBERON:0004720	93.31	gold quality
gingiva	UBERON:0001828	93.02	gold quality
vagina	UBERON:0000996	92.96	gold quality
colonic epithelium	UBERON:0000397	92.89	gold quality
cardiac muscle of right atrium	UBERON:0003379	92.60	gold quality
monocyte	CL:0000576	92.49	gold quality
body of pancreas	UBERON:0001150	92.48	gold quality
left ventricle myocardium	UBERON:0006566	92.45	gold quality
cerebellar cortex	UBERON:0002129	92.34	gold quality
duodenum	UBERON:0002114	92.28	gold quality
primary visual cortex	UBERON:0002436	92.27	gold quality
cerebellar hemisphere	UBERON:0002245	92.26	gold quality
cerebellum	UBERON:0002037	92.22	gold quality
uterine cervix	UBERON:0000002	92.18	gold quality

Single-cell (SCXA)

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

Experiment	Marker?	Max mean expression
E-ANND-3	yes	9.51

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

156 targeting VPS36, 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-3613-3P	100.00	76.36	7965
HSA-MIR-4668-3P	100.00	68.74	2635
HSA-MIR-5011-5P	100.00	83.46	5820
HSA-MIR-4692	100.00	67.32	2066
HSA-MIR-1277-5P	100.00	73.95	5056
HSA-MIR-4262	100.00	73.26	3931
HSA-MIR-29A-3P	100.00	73.11	1835
HSA-MIR-29B-3P	100.00	73.18	1833
HSA-MIR-29C-3P	100.00	73.15	1833
HSA-MIR-6867-5P	100.00	82.21	3464
HSA-MIR-3163	100.00	77.23	8605
HSA-MIR-190A-3P	100.00	80.35	5520
HSA-MIR-4768-5P	100.00	69.49	2861
HSA-MIR-6833-3P	100.00	70.63	3197
HSA-MIR-340-5P	100.00	72.50	4437
HSA-MIR-4682	100.00	68.89	1258
HSA-MIR-3662	99.99	73.82	5684
HSA-MIR-4514	99.99	67.10	1870
HSA-MIR-548AW	99.99	72.57	3559
HSA-MIR-181A-5P	99.99	72.96	2995
HSA-MIR-181B-5P	99.99	72.97	2996
HSA-MIR-181C-5P	99.99	72.95	2996
HSA-MIR-181D-5P	99.99	73.04	2997
HSA-MIR-499A-5P	99.98	70.79	1323
HSA-MIR-4803	99.98	71.99	3117
HSA-MIR-507	99.97	70.11	1915
HSA-MIR-3688-3P	99.97	72.02	2834
HSA-MIR-3148	99.97	75.06	6478
HSA-MIR-1468-3P	99.96	72.74	3797
HSA-MIR-557	99.96	70.01	1640

Functional genomics

DepMap (CRISPR cell-line fitness): dependent in 15.9% of screened cell lines.

Literature-anchored findings (GeneRIF, showing 4)

• mammalian ESCRTII is made up of hVps25p, hVps22p, and hVps36p and may be redundant, cargo-specific, or not required for protein sorting at the multivesicular body (PMID:16371348)
• Crystallographic and biochemical analyses reveal that the GLUE domain of the human ESCRT-II EAP45 (also called VPS36) subunit is a split pleckstrin-homology domain that binds ubiquitin along one edge of the beta-sandwich. (PMID:17057716)
• RAB27A, RAB27B and VPS36 are frequently underexpressed in advanced prostate cancer and are inversely correlated with prostate cancer outcome. There seems to be a close relationship in the expression of RAB27A, RAB27B and VPS36, with RAB27A and RAB27B being dependent on VPS36. (PMID:28197629)
• As a result of VPS36-ORF3 interaction, Porcine Epidemic Diarrhea Virus replication was substantially suppressed in cells overexpressing VPS36. (PMID:31022991)

Cross-species orthologs

5 orthologs

Organism	Symbol	Gene ID
danio_rerio	vps36	ENSDARG00000057021
mus_musculus	Vps36	ENSMUSG00000031479
rattus_norvegicus	Vps36	ENSRNOG00000012654
drosophila_melanogaster	Vps36	FBGN0086785
caenorhabditis_elegans		WBGENE00008919

Protein

Protein identifiers

Vacuolar protein-sorting-associated protein 36 — Q86VN1 (reviewed: Q86VN1)

Alternative names: ELL-associated protein of 45 kDa, ESCRT-II complex subunit VPS36

All UniProt accessions (2): A0A3B3ISW7, Q86VN1

UniProt curated annotations — full annotation on UniProt →

Function. Component of the ESCRT-II complex (endosomal sorting complex required for transport II), which is required for multivesicular body (MVB) formation and sorting of endosomal cargo proteins into MVBs. The MVB pathway mediates delivery of transmembrane proteins into the lumen of the lysosome for degradation. The ESCRT-II complex is probably involved in the recruitment of the ESCRT-III complex. Its ability to bind ubiquitin probably plays a role in endosomal sorting of ubiquitinated cargo proteins by ESCRT complexes. The ESCRT-II complex may also play a role in transcription regulation, possibly via its interaction with ELL. Binds phosphoinosides such as PtdIns(3,4,5)P3.

Subunit / interactions. Component of a complex at least composed of ELL, SNF8/EAP30, VPS25/EAP20 and VPS36/EAP45. Component of the endosomal sorting complex required for transport II (ESCRT-II), composed of SNF8, VPS36 and two copies of VPS25. Interacts with VPS25, SNF8, TSG101 and CHMP6. Interacts (via GLUE domain) with ubiquitin. Interacts with RILPL1 (via the C-terminal domain); which recruits ESCRT-II to the endosome membranes. Interacts with ECPAS.

Subcellular location. Cytoplasm. Endosome. Late endosome. Membrane. Nucleus.

Domain organisation. The GLUE domain (GRAM-like ubiquitin-binding in EAP45) mediates binding to ubiquitin and phosphoinosides.

Similarity. Belongs to the VPS36 family.

Isoforms (2)

UniProt ID	Names	Canonical?
Q86VN1-1	1	yes
Q86VN1-2	2

RefSeq proteins (3): NP_001269097, NP_001269098, NP_057159* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR011993	PH-like_dom_sf	Homologous_superfamily
IPR021648	GLUE_dom	Domain
IPR036388	WH-like_DNA-bd_sf	Homologous_superfamily
IPR036390	WH_DNA-bd_sf	Homologous_superfamily
IPR037855	Vps36	Family
IPR040608	Snf8/Vps36	Family

Pfam: PF04157, PF11605

UniProt features (40 total): helix 15, strand 13, mutagenesis site 4, domain 2, sequence conflict 2, chain 1, coiled-coil region 1, turn 1, splice variant 1

Structure

Experimental structures (PDB)

3 structures.

PDB	Method	Resolution (Å)
3CUQ	X-RAY DIFFRACTION	2.61
2HTH	X-RAY DIFFRACTION	2.7
2ZME	X-RAY DIFFRACTION	2.9

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q86VN1-F1	83.22	0.53

Functional residue map

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

Mutagenesis-validated functional residues (4):

Position	Phenotype
10	no effect on interaction with ubiquitin.
67	reduces affinity for ubiquitin up to 10-fold.
68	reduces affinity for ubiquitin up to 10-fold.
70	reduces affinity for ubiquitin up to 10-fold.

Function

Pathways and Gene Ontology

Reactome pathways

2 pathways

ID	Pathway
R-HSA-917729	Endosomal Sorting Complex Required For Transport (ESCRT)
R-HSA-9610379	HCMV Late Events

MSigDB gene sets: 165 (showing top): REACTOME_ENDOSOMAL_SORTING_COMPLEX_REQUIRED_FOR_TRANSPORT_ESCRT, TGGTGCT_MIR29A_MIR29B_MIR29C, GOBP_ENDOSOME_ORGANIZATION, GOBP_INTRACELLULAR_PROTEIN_TRANSPORT, GOBP_VESICLE_ORGANIZATION, GOBP_MACROMOLECULE_CATABOLIC_PROCESS, GOBP_VACUOLAR_TRANSPORT, GOBP_VESICLE_MEDIATED_TRANSPORT, REACTOME_MEMBRANE_TRAFFICKING, GOBP_ESTABLISHMENT_OF_PROTEIN_LOCALIZATION_TO_ORGANELLE, ACTGCAG_MIR173P, CHANDRAN_METASTASIS_DN, GOBP_MACROAUTOPHAGY, GOBP_PROTEIN_LOCALIZATION_TO_VACUOLE, GOBP_MULTIVESICULAR_BODY_ORGANIZATION

GO Biological Process (6): macroautophagy (GO:0016236), multivesicular body assembly (GO:0036258), protein transport to vacuole involved in ubiquitin-dependent protein catabolic process via the multivesicular body sorting pathway (GO:0043328), membrane fission (GO:0090148), protein transport (GO:0015031), endosome transport via multivesicular body sorting pathway (GO:0032509)

GO Molecular Function (4): phosphatidylinositol-3-phosphate binding (GO:0032266), ubiquitin binding (GO:0043130), protein binding (GO:0005515), lipid binding (GO:0008289)

GO Cellular Component (10): ESCRT II complex (GO:0000814), nucleus (GO:0005634), lysosome (GO:0005764), endosome (GO:0005768), cytosol (GO:0005829), late endosome membrane (GO:0031902), extracellular exosome (GO:0070062), cytoplasm (GO:0005737), late endosome (GO:0005770), membrane (GO:0016020)

Reactome top-level categories

Rollup of top-2 pathways:

Category	Pathways
Membrane Trafficking	1
HCMV Infection	1

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
cellular anatomical structure	3
binding	2
endosome membrane	2
autophagosome assembly	1
autophagy	1
multivesicular body organization	1
organelle assembly	1
intracellular protein transport	1
late endosome to vacuole transport via multivesicular body sorting pathway	1
ubiquitin-dependent protein catabolic process via the multivesicular body sorting pathway	1
protein localization to vacuole	1
establishment of protein localization to vacuole	1
membrane organization	1
transport	1
intracellular protein localization	1
establishment of protein localization	1
endosomal transport	1
multivesicular body sorting pathway	1
phosphatidylinositol phosphate binding	1
ubiquitin-like protein binding	1
ESCRT complex	1
membrane protein complex	1
intracellular membrane-bounded organelle	1
lytic vacuole	1
endomembrane system	1
cytoplasmic vesicle	1
cytoplasm	1
late endosome	1
extracellular vesicle	1
intracellular anatomical structure	1
endosome	1

Protein interactions and networks

STRING

1058 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
VPS36	VPS25	Q9BRG1	999
VPS36	SNF8	Q96H20	999
VPS36	VPS28	Q9UK41	997
VPS36	CHMP6	Q96FZ7	973
VPS36	ELL	P55199	948
VPS36	TSG101	Q99816	911
VPS36	CHMP3	Q9Y3E7	904
VPS36	A0A140T963	A0A140T963	904
VPS36	CHMP2A	O43633	873
VPS36	HGS	O14964	870
VPS36	VPS37A	Q8NEZ2	778
VPS36	CHMP5	Q9NZZ3	767
VPS36	STAM	Q92783	757
VPS36	VPS37C	A5D8V6	740
VPS36	VPS4A	Q9UN37	734

IntAct

46 interactions, top by confidence:

A	B	Type	Score
VPS36	SNF8	psi-mi:“MI:0915”(physical association)	0.800
VPS36	VPS25	psi-mi:“MI:0915”(physical association)	0.800
VPS36	SNF8	psi-mi:“MI:0914”(association)	0.800
VPS25	VPS36	psi-mi:“MI:0914”(association)	0.800
VPS36		psi-mi:“MI:0407”(direct interaction)	0.560
SLC25A41	NUDT19	psi-mi:“MI:0914”(association)	0.530
VPS36	UBB	psi-mi:“MI:0914”(association)	0.530
FBXO2	TMEM131L	psi-mi:“MI:0914”(association)	0.530
KDELR1	TRAFD1	psi-mi:“MI:0914”(association)	0.530
KCNK16	B3GAT3	psi-mi:“MI:0914”(association)	0.530
GCNT1	VPS36	psi-mi:“MI:0915”(physical association)	0.370
Snf8	ACTBL2	psi-mi:“MI:0914”(association)	0.350
Vps25	SPAG1	psi-mi:“MI:0914”(association)	0.350
	CD63	psi-mi:“MI:0914”(association)	0.350
CUL5	DDX3X	psi-mi:“MI:0914”(association)	0.350
KDELR1	PSMD11	psi-mi:“MI:0914”(association)	0.350
rep	TMEM120B	psi-mi:“MI:0914”(association)	0.350
	PLEKHG3	psi-mi:“MI:0914”(association)	0.350
	HLA-C	psi-mi:“MI:0914”(association)	0.350
SNF8	TNPO2	psi-mi:“MI:0914”(association)	0.350
VPS25	MVB12A	psi-mi:“MI:0914”(association)	0.350
CTLA4	TMEM120B	psi-mi:“MI:0914”(association)	0.350
SLC25A41	VPS37C	psi-mi:“MI:0914”(association)	0.350
CENPM	DNM1L	psi-mi:“MI:0914”(association)	0.350
C6orf62	MAP2K7	psi-mi:“MI:0914”(association)	0.350

BioGRID (113): VPS36 (Co-crystal Structure), VPS36 (Affinity Capture-RNA), VPS36 (Affinity Capture-RNA), VPS36 (Affinity Capture-MS), SNF8 (Co-fractionation), TRMT61A (Co-fractionation), VPS25 (Co-fractionation), VPS36 (Affinity Capture-MS), VPS36 (Affinity Capture-MS), VPS36 (Affinity Capture-MS), VPS36 (Affinity Capture-Western), VPS36 (Co-localization), SNF8 (Affinity Capture-MS), VPS25 (Affinity Capture-MS), UBB (Affinity Capture-MS)

ESM2 similar proteins: A0JN39, A0MT11, A1Z3X3, A4GWN3, A4QNE0, A5PK00, D2SW95, F1LNJ2, O35841, O60763, O75643, P0C0A2, P23514, P41541, P49754, P53618, Q0JNK5, Q2YDI2, Q53PC7, Q5EAE3, Q5KU39, Q5R922, Q5RJU0, Q5RK19, Q5U3V9, Q5ZIA5, Q5ZKG8, Q640W6, Q66HV4, Q6DDF4, Q6GLK9, Q6NRL4, Q6P4T2, Q7ZVK4, Q80UM3, Q86VN1, Q8BHL5, Q8K2G4, Q8RWF0, Q8WUN7

Diamond homologs: A5PK00, P0C0A2, Q54T18, Q6DDF4, Q7ZVK4, Q86VN1, Q91XD6, Q9FF81, Q9VU87

SIGNOR signaling

1 interactions.

A	Effect	B	Mechanism
VPS36	“form complex”	“ESCRT-II complex”	binding

Enriched among interaction partners

Reactome pathways and GO biological processes over-represented among this gene’s 45 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
Endosomal Sorting Complex Required For Transport (ESCRT)	6	73.7×	5e-08
HCMV Late Events	5	16.4×	8e-04

GO biological processes:

GO term	Partners	Fold	FDR
multivesicular body assembly	5	64.2×	5e-06
membrane fission	5	50.1×	6e-06
macroautophagy	5	29.4×	6e-05

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	0
Uncertain significance	41
Likely benign	2
Benign	0

Top pathogenic / likely-pathogenic (0)

SpliceAI

2267 predictions. Top by Δscore:

Variant	Effect	Δscore
13:52416091:AAC:A	acceptor_gain	1.0000
13:52416092:AC:A	acceptor_gain	1.0000
13:52416093:CC:C	acceptor_gain	1.0000
13:52416094:C:CC	acceptor_gain	1.0000
13:52416094:C:T	acceptor_gain	1.0000
13:52416104:C:CT	acceptor_gain	1.0000
13:52416981:T:TA	donor_gain	1.0000
13:52417001:AG:A	donor_gain	1.0000
13:52417055:A:AC	donor_gain	1.0000
13:52417056:C:CC	donor_gain	1.0000
13:52417056:CTGT:C	donor_gain	1.0000
13:52418053:GCAA:G	acceptor_gain	1.0000
13:52418054:CAA:C	acceptor_gain	1.0000
13:52418054:CAAC:C	acceptor_gain	1.0000
13:52418057:C:CC	acceptor_gain	1.0000
13:52423572:A:AC	donor_gain	1.0000
13:52423573:C:CC	donor_gain	1.0000
13:52423575:T:TA	donor_gain	1.0000
13:52425927:TTTA:T	donor_loss	1.0000
13:52425928:TTA:T	donor_loss	1.0000
13:52425929:TAC:T	donor_loss	1.0000
13:52425930:A:C	donor_loss	1.0000
13:52425931:CCT:C	donor_gain	1.0000
13:52426062:ATGGT:A	acceptor_gain	1.0000
13:52426063:TGGT:T	acceptor_gain	1.0000
13:52426064:GGT:G	acceptor_gain	1.0000
13:52426065:GT:G	acceptor_gain	1.0000
13:52426067:C:CC	acceptor_gain	1.0000
13:52426069:A:AC	acceptor_gain	1.0000
13:52426069:A:C	acceptor_gain	1.0000

AlphaMissense

2526 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
13:52415888:C:G	R368P	1.000
13:52423584:C:G	R277P	1.000
13:52423590:C:G	R275P	1.000
13:52415860:A:C	F377L	0.999
13:52415860:A:T	F377L	0.999
13:52415862:A:G	F377L	0.999
13:52415889:G:T	R368S	0.999
13:52415890:G:C	C367W	0.999
13:52418055:A:G	L281S	0.999
13:52423592:G:C	N274K	0.999
13:52423592:G:T	N274K	0.999
13:52425960:A:G	L249P	0.999
13:52425969:G:T	A246D	0.999
13:52425972:A:G	L245P	0.999
13:52426017:A:T	V230D	0.999
13:52427066:C:G	A188P	0.999
13:52427197:A:G	L184P	0.999
13:52427206:A:G	L181P	0.999
13:52427214:A:C	F178L	0.999
13:52427214:A:T	F178L	0.999
13:52427216:A:G	F178L	0.999
13:52442397:A:G	W49R	0.999
13:52442397:A:T	W49R	0.999
13:52442405:C:G	R46P	0.999
13:52442417:A:G	L42P	0.999
13:52415861:A:G	F377S	0.998
13:52415886:C:G	D369H	0.998
13:52415892:A:G	C367R	0.998
13:52415894:A:G	L366P	0.998
13:52415921:A:G	L357S	0.998

dbSNP variants (sampled 300 via entrez): RS1000149607 (13:52414887 C>T), RS1000185911 (13:52446289 A>G), RS1000350495 (13:52440155 T>G), RS1000403194 (13:52440310 T>A), RS1000508729 (13:52418930 T>C), RS1000574562 (13:52444962 T>C), RS1000645825 (13:52442594 A>G), RS1000724804 (13:52449643 G>C), RS1000726322 (13:52438884 G>A), RS1000986529 (13:52423384 A>C), RS1000995137 (13:52451436 T>G), RS1001017846 (13:52423743 T>A,G), RS1001211301 (13:52422756 C>T), RS1001287804 (13:52431226 T>C), RS1001332150 (13:52450102 G>A)

Disease associations

OMIM: gene MIM:610903 | disease phenotypes:

GenCC curated gene-disease

Mondo (0):

Orphanet (0):

HPO phenotypes

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

GWAS associations

1 associations (top):

Study	Trait	p-value
GCST002591_15	Lewy body disease	9.000000e-06

EFO canonical traits (1, from GWAS)

EFO ID	Trait name
EFO:0006799	Lewy body dementia measurement

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

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

CTD chemical–gene interactions

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

Chemical	Actions (top 5)	PubMed papers
bisphenol A	decreases expression, affects cotreatment, affects expression, increases abundance	2
Valproic Acid	affects expression, decreases expression	2
aristolochic acid I	decreases expression	1
ginger extract	affects cotreatment, affects expression, increases abundance	1
dicrotophos	decreases expression	1
2,4,6-tribromophenol	decreases expression	1
methylmercuric chloride	decreases expression	1
triphenyl phosphate	affects expression	1
decabromobiphenyl ether	decreases expression	1
beta-lapachone	decreases expression	1
mono-(2-ethylhexyl)phthalate	decreases expression	1
cobaltous chloride	decreases expression	1
tetrabromobisphenol A	decreases expression	1
manganese chloride	increases abundance, increases expression	1
potassium chromate(VI)	decreases expression	1
2,2’,4,4’-tetrabromodiphenyl ether	decreases expression	1
Grape Seed Proanthocyanidins	affects cotreatment, decreases expression	1
pentabrominated diphenyl ether 100	decreases expression	1
hexabrominated diphenyl ether 153	decreases expression	1
Resveratrol	affects cotreatment, increases expression	1
Sunitinib	increases expression	1
Acetaminophen	decreases expression	1
Vehicle Emissions	increases abundance, increases expression	1
Benzo(a)pyrene	increases methylation	1
Catechin	affects cotreatment, decreases expression	1
Doxorubicin	decreases expression	1
Ivermectin	decreases expression	1
Manganese	increases abundance, increases expression	1
Methyl Methanesulfonate	decreases expression	1
Oils, Volatile	affects cotreatment, affects expression, increases abundance	1

Cellosaurus cell lines

1 cell lines: 1 cancer cell line

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

Cellosaurus	Name	Category	Sex
CVCL_TX58	HAP1 VPS36 (-)	Cancer cell line	Male

Clinical trials (associated diseases)

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