CHMP6

Summary

CHMP6 (charged multivesicular body protein 6, HGNC:25675) is a protein-coding gene on chromosome 17q25.3, encoding Charged multivesicular body protein 6 (Q96FZ7). Probable core component of the endosomal sorting required for transport complex III (ESCRT-III) which is involved in multivesicular bodies (MVBs) formation and sorting of endosomal cargo proteins into MVBs. It is a common-essential gene (DepMap: required in 100.0% of cancer cell lines).

This gene encodes a member of the chromatin-modifying protein/charged multivesicular body protein family. Proteins in this family are part of the ESCRT-III (endosomal sorting complex required for transport III) which degrades surface receptors, and in biosynthesis of endosomes.

Source: NCBI Gene 79643 — RefSeq curated summary.

At a glance

• Clinical variants (ClinVar): 48 total
• Cancer dependency (DepMap): dependent in 100.0% of screened cell lines (common-essential)
• MANE Select transcript: NM_024591

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:25675
Approved symbol	CHMP6
Name	charged multivesicular body protein 6
Location	17q25.3
Locus type	gene with protein product
Status	Approved
Aliases	FLJ11749, VPS20
Ensembl gene	ENSG00000176108
Ensembl biotype	protein_coding
OMIM	610901
Entrez	79643

Gene structure

Transcript identifiers

Ensembl transcripts: 4 — 4 protein_coding

ENST00000325167, ENST00000571457, ENST00000572525, ENST00000572778

RefSeq mRNA: 1 — MANE Select: NM_024591 NM_024591

CCDS: CCDS11774

Canonical transcript exons

ENST00000325167 — 8 exons

Exon	Start	End
ENSE00001267170	80998366	80998420
ENSE00001267177	80997261	80997341
ENSE00001267183	80997007	80997072
ENSE00001267186	80995672	80995758
ENSE00001267207	80999098	81000133
ENSE00001290339	80991841	80991981
ENSE00003480443	80994581	80994690
ENSE00003563810	80995019	80995106

Expression profiles

Bgee: expression breadth ubiquitous, 255 present calls, max score 91.34.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 13.8929 / max 148.7481, expressed in 1806 samples.

FANTOM5 promoters (2 alternative TSS)

Promoter ID	TPM avg	Samples expressed
163281	11.4448	1802
163282	2.4481	1420

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
apex of heart	UBERON:0002098	91.34	gold quality
gastrocnemius	UBERON:0001388	90.93	gold quality
hindlimb stylopod muscle	UBERON:0004252	90.47	gold quality
mucosa of transverse colon	UBERON:0004991	90.42	gold quality
muscle of leg	UBERON:0001383	90.39	gold quality
monocyte	CL:0000576	90.05	gold quality
mononuclear cell	CL:0000842	89.87	gold quality
granulocyte	CL:0000094	89.60	gold quality
leukocyte	CL:0000738	89.59	gold quality
right lobe of liver	UBERON:0001114	88.66	gold quality
sural nerve	UBERON:0015488	88.59	gold quality
muscle organ	UBERON:0001630	88.20	gold quality
stromal cell of endometrium	CL:0002255	87.57	gold quality
transverse colon	UBERON:0001157	87.32	gold quality
ectocervix	UBERON:0012249	86.45	gold quality
primordial germ cell in gonad	CL:0000670 ∩ UBERON:0000991	86.38	gold quality
heart left ventricle	UBERON:0002084	86.35	gold quality
skeletal muscle tissue of rectus abdominis	UBERON:0004511	86.22	gold quality
esophagus mucosa	UBERON:0002469	86.12	gold quality
cardiac ventricle	UBERON:0002082	86.07	gold quality
lower esophagus	UBERON:0013473	86.02	gold quality
lower esophagus muscularis layer	UBERON:0035833	86.02	gold quality
esophagogastric junction muscularis propria	UBERON:0035841	86.02	gold quality
skin of leg	UBERON:0001511	85.99	gold quality
body of uterus	UBERON:0009853	85.95	gold quality
left coronary artery	UBERON:0001626	85.92	gold quality
endocervix	UBERON:0000458	85.85	gold quality
muscle layer of sigmoid colon	UBERON:0035805	85.84	gold quality
spleen	UBERON:0002106	85.79	gold quality
lower esophagus mucosa	UBERON:0035834	85.78	gold quality

Single-cell (SCXA)

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

Experiment	Marker?	Max mean expression
E-ANND-3	yes	3.90

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

26 targeting CHMP6, 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-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-185-3P	99.95	67.01	1743
HSA-MIR-3065-3P	99.87	70.25	1407
HSA-MIR-4492	99.87	68.25	3611
HSA-MIR-6836-5P	99.60	65.62	1538
HSA-MIR-6132	99.60	65.83	1554
HSA-MIR-6081	99.48	66.07	1446
HSA-MIR-6722-3P	99.45	67.62	1919
HSA-MIR-4291	99.20	68.88	2969
HSA-MIR-1909-3P	99.03	66.56	1662
HSA-MIR-4755-3P	98.77	65.59	1915
HSA-MIR-6827-5P	98.46	64.88	1256
HSA-MIR-484	98.16	66.92	1074
HSA-MIR-3155A	98.16	66.09	965
HSA-MIR-3155B	98.16	66.09	965
HSA-MIR-503-5P	97.87	66.83	575
HSA-MIR-1226-3P	97.51	66.32	1063
HSA-MIR-134-3P	96.83	66.22	1001
HSA-MIR-1233-3P	96.81	65.44	573
HSA-MIR-3918	96.13	64.65	1300
HSA-MIR-4300	95.85	64.56	1003
HSA-MIR-5591-5P	95.85	64.76	1002
HSA-MIR-6720-3P	91.34	60.49	67
HSA-MIR-3195	88.05	57.43	53

Functional genomics

DepMap (CRISPR cell-line fitness): dependent in 100.0% of screened cell lines, common-essential.

Literature-anchored findings (GeneRIF, showing 6)

• In this study, we found that overexpression of chromatin modifying protein 6 (CHMP6) induced cell death by a series of experiments. (PMID:19270365)
• Results describe the mapping of multivesicular bodies with the second winged helix domain of human ESCRT-II subunit VPS25 and the first helix of ESCRT-III subunit VPS20. (PMID:19686684)
• silencing CHMP6 and VPS4A also blocked epidermal growth factor receptor (EGFR) recycling (PMID:22231449)
• Taken together, these data suggest an active role for ESCRT-II and CHMP6 in ESCRT-mediated abscission (PMID:25232011)
• Purified VPS-20 exhibits an open extended conformation, irrespective of ESCRT-II binding. (PMID:25588614)
• ELK4 targets CHMP6 to inhibit ferroptosis and enhance malignant properties of skin cutaneous melanoma cells. (PMID:39305302)

Cross-species orthologs

6 orthologs

Organism	Symbol	Gene ID
danio_rerio	chmp6a	ENSDARG00000097451
danio_rerio	chmp6b	ENSDARG00000102024
mus_musculus	Chmp6	ENSMUSG00000025371
rattus_norvegicus	Chmp6	ENSRNOG00000004014
drosophila_melanogaster	Vps20	FBGN0034744
caenorhabditis_elegans	vps-20	WBGENE00022027

Protein

Protein identifiers

Charged multivesicular body protein 6 — Q96FZ7 (reviewed: Q96FZ7)

Alternative names: Chromatin-modifying protein 6, Vacuolar protein sorting-associated protein 20

All UniProt accessions (4): Q96FZ7, I3L3E4, I3L4A1, I3L4G8

UniProt curated annotations — full annotation on UniProt →

Function. Probable core component of the endosomal sorting required for transport complex III (ESCRT-III) which is involved in multivesicular bodies (MVBs) formation and sorting of endosomal cargo proteins into MVBs. MVBs contain intraluminal vesicles (ILVs) that are generated by invagination and scission from the limiting membrane of the endosome and mostly are delivered to lysosomes enabling degradation of membrane proteins, such as stimulated growth factor receptors, lysosomal enzymes and lipids. The MVB pathway appears to require the sequential function of ESCRT-O, -I,-II and -III complexes. ESCRT-III proteins mostly dissociate from the invaginating membrane before the ILV is released. The ESCRT machinery also functions in topologically equivalent membrane fission events, such as the terminal stages of cytokinesis and the budding of enveloped viruses (HIV-1 and other lentiviruses). ESCRT-III proteins are believed to mediate the necessary vesicle extrusion and/or membrane fission activities, possibly in conjunction with the AAA ATPase VPS4. In the ESCRT-III complex, it probably serves as an acceptor for the ESCRT-II complex on endosomal membranes.

Subunit / interactions. Probable core component of the endosomal sorting required for transport complex III (ESCRT-III). ESCRT-III components are thought to multimerize to form a flat lattice on the perimeter membrane of the endosome. Several assembly forms of ESCRT-III may exist that interact and act sequentially. Interacts with VPS4A; the interaction is direct. Interacts with VPS4B; the interaction is direct. Interacts with CHMP4A, CHMP4B and CHMP4C. Interacts with SNF8, VPS25 and VPS36.

Subcellular location. Endomembrane system. Endosome membrane. Late endosome membrane. Membrane.

Tissue specificity. Ubiquitously expressed.

Post-translational modifications. ISGylated in a CHMP5-dependent manner. Isgylation weakens its interaction with VPS4A.

Domain organisation. The acidic C-terminus and the basic N-termminus are thought to render the protein in a closed, soluble and inactive conformation through an autoinhibitory intramolecular interaction. The open and active conformation, which enables membrane binding and oligomerization, is achieved by interaction with other cellular binding partners, probably including other ESCRT components.

Similarity. Belongs to the SNF7 family.

RefSeq proteins (1): NP_078867* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR005024	Snf7_fam	Family

Pfam: PF03357

UniProt features (18 total): mutagenesis site 6, sequence conflict 2, modified residue 2, initiator methionine 1, chain 1, helix 1, region of interest 1, coiled-coil region 1, short sequence motif 1, lipid moiety-binding region 1, sequence variant 1

Structure

Experimental structures (PDB)

2 structures.

PDB	Method	Resolution (Å)
3HTU	X-RAY DIFFRACTION	2
2K3W	SOLUTION NMR

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q96FZ7-F1	82.51	0.54

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): 119, 130, 2

Mutagenesis-validated functional residues (6):

Position	Phenotype
49	does not affect the subcellular location.
168–201	membrane association; releases autoinhibition.
170	abolishes interaction with vps4a.
173	abolishes interaction with vps4a.
178	reduces interaction with vps4a.
2	abolishes myristoylation.

Function

Pathways and Gene Ontology

Reactome pathways

9 pathways

ID	Pathway
R-HSA-162588	Budding and maturation of HIV virion
R-HSA-1632852	Macroautophagy
R-HSA-5620971	Pyroptosis
R-HSA-917729	Endosomal Sorting Complex Required For Transport (ESCRT)
R-HSA-9610379	HCMV Late Events
R-HSA-9615710	Late endosomal microautophagy
R-HSA-9668328	Sealing of the nuclear envelope (NE) by ESCRT-III
R-HSA-9679504	Translation of Replicase and Assembly of the Replication Transcription Complex
R-HSA-9694676	Translation of Replicase and Assembly of the Replication Transcription Complex

MSigDB gene sets: 278 (showing top): GOBP_MITOTIC_CYTOKINESIS, REACTOME_ENDOSOMAL_SORTING_COMPLEX_REQUIRED_FOR_TRANSPORT_ESCRT, GOBP_CHROMOSOME_ORGANIZATION, GOBP_REGULATION_OF_PROTEIN_TYROSINE_KINASE_ACTIVITY, GOBP_NUCLEAR_MEMBRANE_REASSEMBLY, GOBP_NEGATIVE_REGULATION_OF_PEPTIDYL_TYROSINE_PHOSPHORYLATION, GOBP_LYSOSOMAL_TRANSPORT, GOBP_REGULATION_OF_ERBB_SIGNALING_PATHWAY, GOBP_REGULATION_OF_MICROTUBULE_BASED_PROCESS, GOBP_ENDOSOME_ORGANIZATION, GOBP_VACUOLE_ORGANIZATION, GOBP_REGULATION_OF_PHOSPHORYLATION, GOBP_VESICLE_LOCALIZATION, GOBP_NEGATIVE_REGULATION_OF_KINASE_ACTIVITY, GOBP_MEMBRANE_BIOGENESIS

GO Biological Process (25): plasma membrane repair (GO:0001778), vesicle budding from membrane (GO:0006900), autophagy (GO:0006914), nucleus organization (GO:0006997), mitotic metaphase chromosome alignment (GO:0007080), negative regulation of epidermal growth factor-activated receptor activity (GO:0007175), protein transport (GO:0015031), macroautophagy (GO:0016236), nuclear membrane reassembly (GO:0031468), late endosome to vacuole transport via multivesicular body sorting pathway (GO:0032511), multivesicular body assembly (GO:0036258), viral budding via host ESCRT complex (GO:0039702), regulation of protein catabolic process (GO:0042176), ubiquitin-dependent protein catabolic process via the multivesicular body sorting pathway (GO:0043162), viral budding from plasma membrane (GO:0046761), vesicle fusion with vacuole (GO:0051469), multivesicular body-lysosome fusion (GO:0061763), midbody abscission (GO:0061952), multivesicular body sorting pathway (GO:0071985), membrane fission (GO:0090148), autophagosome maturation (GO:0097352), regulation of mitotic spindle assembly (GO:1901673), late endosome to lysosome transport (GO:1902774), ESCRT III complex assembly (GO:1904902), vacuolar transport (GO:0007034)

GO Molecular Function (2): protein-containing complex binding (GO:0044877), protein binding (GO:0005515)

GO Cellular Component (18): autophagosome membrane (GO:0000421), kinetochore (GO:0000776), ESCRT III complex (GO:0000815), nuclear pore (GO:0005643), lysosomal membrane (GO:0005765), multivesicular body (GO:0005771), kinetochore microtubule (GO:0005828), cytosol (GO:0005829), plasma membrane (GO:0005886), endosome membrane (GO:0010008), membrane (GO:0016020), midbody (GO:0030496), multivesicular body membrane (GO:0032585), extracellular exosome (GO:0070062), amphisome membrane (GO:1904930), endosome (GO:0005768), endomembrane system (GO:0012505), late endosome membrane (GO:0031902)

Reactome top-level categories

Rollup of top-8 pathways:

Category	Pathways
Autophagy	2
Late Phase of HIV Life Cycle	1
Regulated Necrosis	1
Membrane Trafficking	1
HCMV Infection	1
Nuclear Envelope (NE) Reassembly	1
SARS-CoV-1 Infection	1
Early SARS-CoV-2 Infection Events	1

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
cellular anatomical structure	4
membrane organization	3
vesicle-mediated transport	2
viral budding	2
vesicle fusion	2
binding	2
endosome membrane	2
late endosome	2
plasma membrane organization	1
wound healing	1
vesicle organization	1
catabolic process	1
transmembrane transport	1
process utilizing autophagic mechanism	1
organelle organization	1
mitotic sister chromatid segregation	1
mitotic cell cycle	1
metaphase chromosome alignment	1
mitotic cell cycle process	1
epidermal growth factor receptor activity	1
negative regulation of epidermal growth factor receptor signaling pathway	1
negative regulation of protein tyrosine kinase activity	1
negative regulation of signaling receptor activity	1
transport	1
intracellular protein localization	1
establishment of protein localization	1
autophagosome assembly	1
autophagy	1
membrane assembly	1
nuclear membrane organization	1
endosome transport via multivesicular body sorting pathway	1
late endosome to vacuole transport	1
multivesicular body organization	1
organelle assembly	1
regulation of catabolic process	1
protein catabolic process	1
regulation of protein metabolic process	1
ubiquitin-dependent protein catabolic process	1
protein catabolic process in the vacuole	1
multivesicular body sorting pathway	1

Protein interactions and networks

STRING

969 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
CHMP6	VPS25	Q9BRG1	999
CHMP6	CHMP3	Q9Y3E7	999
CHMP6	A0A140T963	A0A140T963	999
CHMP6	CHMP2A	O43633	999
CHMP6	CHMP5	Q9NZZ3	995
CHMP6	IST1	P53990	984
CHMP6	CHMP4A	Q9BY43	982
CHMP6	CHMP1A	Q9HD42	981
CHMP6	VPS28	Q9UK41	978
CHMP6	VPS36	Q86VN1	973
CHMP6	SNF8	Q96H20	970
CHMP6	VPS4B	O75351	956
CHMP6	VPS4A	Q9UN37	955
CHMP6	TSG101	Q99816	948
CHMP6	CHMP1B	Q7LBR1	877

IntAct

42 interactions, top by confidence:

A	B	Type	Score
VPS25	CHMP6	psi-mi:“MI:0915”(physical association)	0.810
CHMP6	VPS25	psi-mi:“MI:0915”(physical association)	0.810
DCK	DGUOK	psi-mi:“MI:0914”(association)	0.620
CHMP6	DNM2	psi-mi:“MI:0915”(physical association)	0.560
CHMP6	TOR1A	psi-mi:“MI:0915”(physical association)	0.560
CHMP6	SMN1	psi-mi:“MI:0915”(physical association)	0.560
BAIAP2	WASL	psi-mi:“MI:0914”(association)	0.550
CHMP6	CHMP4B	psi-mi:“MI:0915”(physical association)	0.550
SUN2	POTEF	psi-mi:“MI:0914”(association)	0.530
RIPPLY1	TLE2	psi-mi:“MI:0914”(association)	0.530
NRAS	ESYT2	psi-mi:“MI:2364”(proximity)	0.480
CHMP6	USP8	psi-mi:“MI:0407”(direct interaction)	0.440
USP54	CHMP6	psi-mi:“MI:0407”(direct interaction)	0.440
PRDM10	CHMP6	psi-mi:“MI:0915”(physical association)	0.400
METTL9	CHMP6	psi-mi:“MI:0915”(physical association)	0.370
ELOF1	CHMP6	psi-mi:“MI:0915”(physical association)	0.370
TNPO3	CHMP6	psi-mi:“MI:0915”(physical association)	0.370
CDK13	CHMP6	psi-mi:“MI:0915”(physical association)	0.370
TRPC4AP	CHMP6	psi-mi:“MI:0915”(physical association)	0.370
TTC19	CHMP6	psi-mi:“MI:0915”(physical association)	0.370
PA	CHMP6	psi-mi:“MI:0915”(physical association)	0.370

BioGRID (63): CHMP6 (Affinity Capture-MS), CHMP6 (Affinity Capture-MS), CHMP6 (Affinity Capture-Western), CHMP6 (Co-localization), CHMP6 (Affinity Capture-MS), CHMP6 (Affinity Capture-MS), CHMP6 (Affinity Capture-MS), NXN (Affinity Capture-MS), CHMP6 (Negative Genetic), CHMP6 (Negative Genetic), CHMP6 (Negative Genetic), CHMP6 (Proximity Label-MS), CHMP6 (Two-hybrid), CHMP6 (Affinity Capture-MS), PRDM10 (Proximity Label-MS)

ESM2 similar proteins: A2VDY3, O14177, O43633, O74422, P0C0A3, P0C149, P0CR54, P0CR55, P36108, P59074, Q4R574, Q503V0, Q54JK4, Q569C1, Q58CS7, Q5ABD0, Q5B5E0, Q5BKM3, Q5R861, Q5RAU5, Q5ZHN1, Q5ZL55, Q6BSH2, Q6CBS3, Q6DFS6, Q6GMA4, Q6GNN8, Q6IP52, Q6NRM7, Q6NU11, Q6NY88, Q753W3, Q7ZW25, Q86H98, Q871Y8, Q8CGS4, Q8GXN6, Q8T0Q4, Q96CF2, Q96FZ7

Diamond homologs: O94318, P0C0A3, Q54KZ4, Q5R861, Q5ZL55, Q6GMA4, Q6NU11, Q8GXN6, Q96FZ7, Q9FY89, P0C149, P39929, Q04272, Q503V0, Q6BSH2, A2VDY3, P0CR54, P0CR55, P59074, Q569C1, Q5ABD0, Q5B5E0, Q5XGW6, Q5ZHP5, Q6CBS3, Q6CJL0, Q6FW96, Q6GL11, Q6GNN8, Q6IQ73, Q753W3, Q7ZVC4, Q86H98, Q871Y8, Q8T0Q4, Q96CF2, Q9BY43, Q9D7F7, Q9D8B3, Q9H444

SIGNOR signaling

1 interactions.

A	Effect	B	Mechanism
CHMP6	“form complex”	ESCRT-III	binding

Enriched among interaction partners

Reactome pathways and GO biological processes over-represented among this gene’s 36 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
Ras protein signal transduction	5	29.4×	3e-04

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	0
Uncertain significance	30
Likely benign	2
Benign	3

Top pathogenic / likely-pathogenic (0)

SpliceAI

1221 predictions. Top by Δscore:

Variant	Effect	Δscore
17:80991980:TGG:T	donor_loss	1.0000
17:80991982:G:A	donor_loss	1.0000
17:80991982:G:GG	donor_gain	1.0000
17:80991983:T:A	donor_loss	1.0000
17:80994575:T:A	acceptor_gain	1.0000
17:80994576:GGCA:G	acceptor_loss	1.0000
17:80994577:GCA:G	acceptor_loss	1.0000
17:80994578:CA:C	acceptor_loss	1.0000
17:80994579:A:AC	acceptor_loss	1.0000
17:80994579:A:AG	acceptor_gain	1.0000
17:80994580:G:GG	acceptor_gain	1.0000
17:80994580:GC:G	acceptor_gain	1.0000
17:80994580:GCA:G	acceptor_gain	1.0000
17:80994580:GCAA:G	acceptor_gain	1.0000
17:80994580:GCAAC:G	acceptor_gain	1.0000
17:80994685:G:GT	donor_gain	1.0000
17:80994686:A:T	donor_gain	1.0000
17:80994686:AAGGA:A	donor_gain	1.0000
17:80994687:AGGA:A	donor_gain	1.0000
17:80994688:GGA:G	donor_gain	1.0000
17:80994688:GGAG:G	donor_gain	1.0000
17:80994689:G:GT	donor_gain	1.0000
17:80994689:GA:G	donor_gain	1.0000
17:80994689:GAGT:G	donor_loss	1.0000
17:80994690:AG:A	donor_loss	1.0000
17:80994691:G:GG	donor_gain	1.0000
17:80994691:G:T	donor_loss	1.0000
17:80994694:A:AG	donor_gain	1.0000
17:80994695:G:GG	donor_gain	1.0000
17:80995014:TGCA:T	acceptor_loss	1.0000

AlphaMissense

1321 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
17:80994585:T:C	L23P	0.997
17:80994597:G:C	R27P	0.997
17:80995721:T:C	L104P	0.997
17:80994589:G:C	K24N	0.996
17:80994589:G:T	K24N	0.996
17:80994606:T:C	L30P	0.996
17:80995742:T:C	L111P	0.996
17:80991980:T:C	L21P	0.995
17:80995096:T:C	L84P	0.995
17:80995024:C:A	A60D	0.994
17:80995036:T:C	L64P	0.994
17:80991967:G:C	D17H	0.993
17:80995048:G:C	R68P	0.993
17:80997325:T:C	L160P	0.993
17:80995687:T:C	F93L	0.992
17:80995689:C:A	F93L	0.992
17:80995689:C:G	F93L	0.992
17:80997055:G:C	A133P	0.992
17:80991968:A:T	D17V	0.991
17:80991973:G:C	A19P	0.991
17:80994660:C:A	A48D	0.991
17:80994669:T:C	L51P	0.991
17:80995730:G:A	G107E	0.991
17:80991968:A:C	D17A	0.990
17:80995063:T:C	L73P	0.990
17:80995036:T:A	L64H	0.985
17:80997274:T:C	L143P	0.985
17:80994587:A:G	K24E	0.984
17:80994594:A:C	Q26P	0.984
17:80997038:T:C	L127P	0.984

dbSNP variants (sampled 300 via entrez): RS1000319039 (17:80998095 C>A), RS1000371342 (17:80998259 C>A,G), RS1000596845 (17:80993632 G>A), RS1000998037 (17:81000182 G>C,T), RS1001060934 (17:80994733 T>G), RS1001235980 (17:80992444 C>T), RS1001482718 (17:81000079 G>A), RS1001603946 (17:80992647 G>A), RS1001652443 (17:80994019 TCTC>T), RS1002182040 (17:81000387 G>A,C), RS1002307652 (17:80997841 C>T), RS1002335598 (17:80997162 C>T), RS1002802279 (17:80998115 C>G,T), RS1002867969 (17:80993569 G>A,C), RS1003232213 (17:80994427 G>A)

Disease associations

OMIM: gene MIM:610901 | disease phenotypes:

GenCC curated gene-disease

Mondo (0):

Orphanet (0):

HPO phenotypes

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

GWAS associations

0 associations (top):

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

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

CTD chemical–gene interactions

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

Chemical	Actions (top 5)	PubMed papers
(+)-JQ1 compound	decreases expression	2
aristolochic acid I	decreases expression	1
GSK-J4	decreases expression	1
bisphenol A	increases expression	1
sodium arsenite	decreases expression	1
cobaltous chloride	decreases expression	1
perfluorooctanoic acid	decreases expression	1
zinc chromate	decreases expression, increases abundance	1
potassium chromate(VI)	affects cotreatment, decreases expression	1
ferrous chloride	decreases expression	1
epigallocatechin gallate	decreases expression, affects cotreatment	1
di-n-butylphosphoric acid	affects expression	1
chromium hexavalent ion	decreases expression, increases abundance	1
azoxystrobin	decreases expression	1
pyrimidifen	decreases expression	1
bisphenol B	increases expression	1
pyrachlostrobin	decreases expression	1
bisphenol S	increases expression	1
jinfukang	increases expression	1
picoxystrobin	decreases expression	1
bisphenol AF	increases expression	1
Zoledronic Acid	increases expression	1
Antimycin A	decreases expression	1
Arsenic	affects methylation	1
Atrazine	decreases expression	1
Benzo(a)pyrene	increases methylation	1
Caffeine	decreases phosphorylation	1
Rotenone	decreases expression	1
Smoke	decreases expression	1
Tobacco Smoke Pollution	affects expression	1

Clinical trials (associated diseases)

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