CHMP1B

Summary

CHMP1B (charged multivesicular body protein 1B, HGNC:24287) is a protein-coding gene on chromosome 18p11.21, encoding Charged multivesicular body protein 1b (Q7LBR1). Probable peripherally associated 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.

CHMP1B belongs to the chromatin-modifying protein/charged multivesicular body protein (CHMP) family. These proteins are components of ESCRT-III (endosomal sorting complex required for transport III), a complex involved in degradation of surface receptor proteins and formation of endocytic multivesicular bodies (MVBs). Some CHMPs have both nuclear and cytoplasmic/vesicular distributions, and one such CHMP, CHMP1A (MIM 164010), is required for both MVB formation and regulation of cell cycle progression (Tsang et al., 2006 [PubMed 16730941]).

Source: NCBI Gene 57132 — RefSeq curated summary.

At a glance

• GWAS associations: 1
• Clinical variants (ClinVar): 37 total — 1 pathogenic, 1 likely-pathogenic
• Phenotypes (HPO): 1
• MANE Select transcript: NM_020412

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:24287
Approved symbol	CHMP1B
Name	charged multivesicular body protein 1B
Location	18p11.21
Locus type	gene with protein product
Status	Approved
Aliases	CHMP1.5, C18orf2, Vps46B
Ensembl gene	ENSG00000255112
Ensembl biotype	protein_coding
OMIM	606486
Entrez	57132

Gene structure

Transcript identifiers

Ensembl transcripts: 2 — 1 protein_coding, 1 protein_coding_CDS_not_defined

ENST00000526991, ENST00000588284

RefSeq mRNA: 1 — MANE Select: NM_020412 NM_020412

CCDS: CCDS54180

Canonical transcript exons

ENST00000526991 — 1 exons

Exon	Start	End
ENSE00002193578	11851413	11854444

Expression profiles

Bgee: expression breadth ubiquitous, 282 present calls, max score 98.22.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 48.4255 / max 1071.8051, expressed in 1812 samples.

FANTOM5 promoters (7 alternative TSS)

Promoter ID	TPM avg	Samples expressed
169455	27.8613	1806
169456	14.5910	1594
169454	4.8703	1689
169457	0.3187	150
169453	0.3092	81
169451	0.2577	72
169452	0.2174	56

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
gastrocnemius	UBERON:0001388	98.22	gold quality
muscle of leg	UBERON:0001383	97.12	gold quality
type B pancreatic cell	CL:0000169	96.39	silver quality
tibialis anterior	UBERON:0001385	96.23	gold quality
gluteal muscle	UBERON:0002000	95.76	gold quality
hindlimb stylopod muscle	UBERON:0004252	95.76	gold quality
muscle organ	UBERON:0001630	95.65	gold quality
mucosa of sigmoid colon	UBERON:0004993	94.80	gold quality
popliteal artery	UBERON:0002250	94.79	gold quality
tibial artery	UBERON:0007610	94.78	gold quality
olfactory bulb	UBERON:0002264	94.60	gold quality
colonic mucosa	UBERON:0000317	94.56	gold quality
monocyte	CL:0000576	94.53	gold quality
biceps brachii	UBERON:0001507	94.53	gold quality
mononuclear cell	CL:0000842	94.52	gold quality
leukocyte	CL:0000738	94.49	gold quality
heart right ventricle	UBERON:0002080	94.48	gold quality
skeletal muscle tissue of biceps brachii	UBERON:0004502	94.47	gold quality
mucosa of paranasal sinus	UBERON:0005030	94.36	gold quality
stromal cell of endometrium	CL:0002255	94.27	gold quality
gall bladder	UBERON:0002110	94.27	gold quality
deltoid	UBERON:0001476	94.10	gold quality
nasal cavity epithelium	UBERON:0005384	94.08	gold quality
islet of Langerhans	UBERON:0000006	93.99	gold quality
olfactory segment of nasal mucosa	UBERON:0005386	93.91	gold quality
skeletal muscle tissue	UBERON:0001134	93.43	gold quality
rectum	UBERON:0001052	93.37	gold quality
jejunal mucosa	UBERON:0000399	93.17	gold quality
aorta	UBERON:0000947	93.17	gold quality
seminal vesicle	UBERON:0000998	92.96	gold quality

Single-cell (SCXA)

Detected in 3 experiment(s), a significant marker in 1.

Experiment	Marker?	Max mean expression
E-MTAB-6058	no	241.83
E-GEOD-99795	no	131.49
E-ANND-3	no	0.00

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

117 targeting CHMP1B, 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-5692A	100.00	74.40	6850
HSA-MIR-3163	100.00	77.23	8605
HSA-MIR-4262	100.00	73.26	3931
HSA-MIR-4425	100.00	67.59	1049
HSA-MIR-1277-5P	100.00	73.95	5056
HSA-MIR-9-5P	100.00	72.28	2361
HSA-MIR-3646	100.00	73.56	5283
HSA-MIR-3613-3P	100.00	76.36	7965
HSA-MIR-8485	100.00	77.57	4731
HSA-MIR-5692B	100.00	71.32	2622
HSA-MIR-5692C	100.00	71.32	2622
HSA-MIR-450A-1-3P	100.00	69.33	1837
HSA-MIR-371B-5P	99.99	75.34	4759
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-548C-3P	99.99	74.01	7587
HSA-MIR-3662	99.99	73.82	5684
HSA-MIR-4282	99.99	75.36	6408
HSA-MIR-4775	99.98	75.00	6394
HSA-MIR-373-5P	99.98	75.36	4753
HSA-MIR-616-5P	99.98	75.58	4775
HSA-MIR-4482-3P	99.98	72.50	3147
HSA-MIR-3658	99.96	73.87	4379
HSA-MIR-590-3P	99.96	74.34	6478
HSA-MIR-4267	99.96	66.53	2368
HSA-MIR-548AJ-3P	99.96	73.38	5345
HSA-MIR-548X-3P	99.96	73.38	5345
HSA-MIR-96-5P	99.95	72.80	2140

Literature-anchored findings (GeneRIF, showing 6)

• CHMP1B is bound by the VPS4A microtubule interacting and transport (MIT) domain. (PMID:16174732)
• UBPY MIT domain and another ubiquitin isopeptidase, AMSH, reveals common interactions with CHMP1A and CHMP1B but a distinct selectivity of AMSH for CHMP3/VPS24, a core subunit of the ESCRT-III complex, and UBPY for CHMP7. (PMID:17711858)
• The 2.5-A structure of the C-terminal tail of CHMP1B with the MIT domain of spastin reveals a specific, high-affinity complex involving a noncanonical binding site between the first and third helices of the MIT domain. (PMID:18997780)
• The interaction between CL7MIT and CHMP1B and between CL7MIT and IST1 became stronger when IST1 or CHMP1B was additionally coexpressed, suggesting formation of ternary complex of calpain-7, IST1 and CHMP1B. (PMID:21616915)
• To learn how certain ESCRT-IIIs shape positively curved membranes, we determined structures of human membrane-bound CHMP1B-only, membrane-bound CHMP1B + IST1, and IST1-only filaments by cryo-EM (PMID:32251413)
• Friction-driven membrane scission by the human ESCRT-III proteins CHMP1B and IST1. (PMID:35858336)

Cross-species orthologs

5 orthologs

Organism	Symbol	Gene ID
danio_rerio	chmp1b	ENSDARG00000099624
mus_musculus	Chmp1b	ENSMUSG00000109901
rattus_norvegicus	Chmp1b	ENSRNOG00000074953
drosophila_melanogaster	Chmp1	FBGN0036805
caenorhabditis_elegans	did-2	WBGENE00017735

Paralogs (4): CHMP2B (ENSG00000083937), CHMP3 (ENSG00000115561), CHMP2A (ENSG00000130724), CHMP1A (ENSG00000131165)

Protein

Protein identifiers

Charged multivesicular body protein 1b — Q7LBR1 (reviewed: Q7LBR1)

Alternative names: CHMP1.5, Chromatin-modifying protein 1b, Vacuolar protein sorting-associated protein 46-2

All UniProt accessions (1): Q7LBR1

UniProt curated annotations — full annotation on UniProt →

Function. Probable peripherally associated 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. Involved in cytokinesis. Involved in recruiting VPS4A and/or VPS4B and SPAST to the midbody of dividing cells. Involved in HIV-1 p6- and p9-dependent virus release.

Subunit / interactions. Probable peripherally associated 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 CHMP1A. Interacts with VTA1; the interaction probably involves the open conformation of CHMP1B. Interacts with CHMP2A. Interacts with VPS4A; the interaction is direct. Interacts with VPS4B; the interaction is direct. Interacts with SPAST (via MIT domain); the interaction is direct. Interacts with IST1. Interacts with MITD1. Interacts with STAMBP.

Subcellular location. Cytoplasm. Cytosol. Endosome. Late endosome membrane.

Tissue specificity. Widely expressed. Expressed in pancreas, kidney, skeletal muscle, liver, lung, placenta and brain.

Similarity. Belongs to the SNF7 family.

RefSeq proteins (1): NP_065145* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR005024	Snf7_fam	Family

Pfam: PF03357

UniProt features (27 total): mutagenesis site 9, region of interest 6, helix 6, coiled-coil region 2, chain 1, compositionally biased region 1, strand 1, short sequence motif 1

Structure

Experimental structures (PDB)

11 structures.

PDB	Method	Resolution (Å)
4TXR	X-RAY DIFFRACTION	1
4TXQ	X-RAY DIFFRACTION	2.21
3EAB	X-RAY DIFFRACTION	2.5
8V2S	ELECTRON MICROSCOPY	2.72
6E8G	ELECTRON MICROSCOPY	2.9
8V2Q	ELECTRON MICROSCOPY	2.95
8V2R	ELECTRON MICROSCOPY	3.01
6TZ5	ELECTRON MICROSCOPY	3.1
6TZ4	ELECTRON MICROSCOPY	3.2
3JC1	ELECTRON MICROSCOPY	4
6TZ9	ELECTRON MICROSCOPY	6.2

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q7LBR1-F1	81.29	0.45

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 (9):

Position	Phenotype
158–159	diminishes interaction with vps4b.
178	abolishes interaction with spast and no effect on interaction with vps4a; when associated with r-181 and r-184.
181	abolishes interaction with spasct and no effect on interaction with vps4a; when associated with r-178 and r-184.
184	decreases interaction with spast.
184	abolishes interaction with spast and no effect on interaction with vps4a; when associated with r-178 and r-181.
188	abolishes interaction with spast and vps4a; when associated with a-192.
192	abolishes interaction with spast and vps4a; when associated with a-188.
192	abolishes interaction with vps4b.
195	abolishes interaction with vps4b.

Function

Pathways and Gene Ontology

Reactome pathways

0 pathways

MSigDB gene sets: 314 (showing top): GSE18804_BRAIN_VS_COLON_TUMORAL_MACROPHAGE_UP, ATF_B, GOBP_MITOTIC_CYTOKINESIS, GOBP_CHROMOSOME_ORGANIZATION, GOBP_NUCLEAR_MEMBRANE_REASSEMBLY, GOBP_LYSOSOMAL_TRANSPORT, GOBP_REGULATION_OF_MICROTUBULE_BASED_PROCESS, GOBP_ENDOSOME_ORGANIZATION, GOBP_VACUOLE_ORGANIZATION, GOBP_MEMBRANE_BIOGENESIS, GOCC_VACUOLAR_MEMBRANE, GOBP_VESICLE_ORGANIZATION, GOBP_CHROMOSOME_LOCALIZATION, GOBP_ENDOSOME_TO_LYSOSOME_TRANSPORT, GRAESSMANN_APOPTOSIS_BY_DOXORUBICIN_UP

GO Biological Process (25): plasma membrane repair (GO:0001778), autophagy (GO:0006914), nucleus organization (GO:0006997), mitotic metaphase chromosome alignment (GO:0007080), regulation of centrosome duplication (GO:0010824), protein transport (GO:0015031), nuclear membrane reassembly (GO:0031468), endosome transport via multivesicular body sorting pathway (GO:0032509), multivesicular body assembly (GO:0036258), viral budding via host ESCRT complex (GO:0039702), ubiquitin-dependent protein catabolic process via the multivesicular body sorting pathway (GO:0043162), establishment of protein localization (GO:0045184), late endosome to vacuole transport (GO:0045324), viral budding from plasma membrane (GO:0046761), cell division (GO:0051301), 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 disassembly (GO:1904903), vacuolar transport (GO:0007034)

GO Molecular Function (4): protein domain specific binding (GO:0019904), identical protein binding (GO:0042802), MIT domain binding (GO:0090541), protein binding (GO:0005515)

GO Cellular Component (20): autophagosome membrane (GO:0000421), kinetochore (GO:0000776), ESCRT III complex (GO:0000815), nuclear pore (GO:0005643), nucleoplasm (GO:0005654), lysosomal membrane (GO:0005765), multivesicular body (GO:0005771), kinetochore microtubule (GO:0005828), cytosol (GO:0005829), plasma membrane (GO:0005886), endosome membrane (GO:0010008), membrane coat (GO:0030117), midbody (GO:0030496), multivesicular body membrane (GO:0032585), extracellular exosome (GO:0070062), amphisome membrane (GO:1904930), cytoplasm (GO:0005737), endosome (GO:0005768), membrane (GO:0016020), late endosome membrane (GO:0031902)

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
cellular anatomical structure	5
multivesicular body sorting pathway	2
viral budding	2
vesicle-mediated transport	2
vesicle fusion	2
membrane organization	2
protein binding	2
endosome membrane	2
membrane protein complex	2
late endosome	2
cytoplasm	2
plasma membrane organization	1
wound healing	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
regulation of centrosome cycle	1
centrosome duplication	1
transport	1
intracellular protein localization	1
establishment of protein localization	1
membrane assembly	1
nuclear membrane organization	1
endosomal transport	1
multivesicular body organization	1
organelle assembly	1
ubiquitin-dependent protein catabolic process	1
protein catabolic process in the vacuole	1
establishment of localization	1
vacuolar transport	1
intercellular transport	1
non-lytic viral release	1
cellular process	1
vacuole fusion	1
endosome to lysosome transport via multivesicular body sorting pathway	1

Protein interactions and networks

STRING

684 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
CHMP1B	SPAST	Q9UBP0	998
CHMP1B	IST1	P53990	996
CHMP1B	CHMP3	Q9Y3E7	963
CHMP1B	A0A140T963	A0A140T963	956
CHMP1B	VPS4A	Q9UN37	947
CHMP1B	STAMBP	O95630	923
CHMP1B	CHMP2B	Q9UQN3	918
CHMP1B	CHMP5	Q9NZZ3	914
CHMP1B	VPS4B	O75351	881
CHMP1B	CHMP6	Q96FZ7	877
CHMP1B	CHMP7	Q8WUX9	832
CHMP1B	CHMP2A	O43633	822
CHMP1B	CHMP4C	Q96CF2	817
CHMP1B	SSNA1	O43805	769
CHMP1B	CHMP1A	Q9HD42	756

IntAct

111 interactions, top by confidence:

A	B	Type	Score
STAMBP	CHMP1B	psi-mi:“MI:0915”(physical association)	0.960
CHMP1B	STAMBP	psi-mi:“MI:0915”(physical association)	0.960
CHMP1B	STAMBP	psi-mi:“MI:0403”(colocalization)	0.960
STAMBP	CHMP1B	psi-mi:“MI:0407”(direct interaction)	0.960
CHMP1B	VTA1	psi-mi:“MI:0915”(physical association)	0.740
USP8	CHMP1B	psi-mi:“MI:0915”(physical association)	0.700
CHMP1B	USP8	psi-mi:“MI:0915”(physical association)	0.700
USP8	CHMP1B	psi-mi:“MI:0407”(direct interaction)	0.700
CHMP1B	IST1	psi-mi:“MI:0407”(direct interaction)	0.630
IST1	CHMP1B	psi-mi:“MI:0407”(direct interaction)	0.630
VPS4A	CHMP1B	psi-mi:“MI:0915”(physical association)	0.590
CHMP1B	VPS4A	psi-mi:“MI:0915”(physical association)	0.590

BioGRID (85): CHMP1B (Two-hybrid), CHMP1B (Co-fractionation), CHMP1B (Co-fractionation), CHMP1B (Co-fractionation), CHMP1B (Co-fractionation), IST1 (Co-fractionation), CHMP1B (Affinity Capture-MS), CHMP1B (Affinity Capture-MS), CHMP1B (Affinity Capture-MS), CHMP1B (Affinity Capture-MS), CHMP1B (Affinity Capture-MS), CHMP1B (Affinity Capture-MS), CHMP1B (Affinity Capture-MS), CHMP1B (Affinity Capture-MS), CHMP1B (Affinity Capture-MS)

ESM2 similar proteins: A0R5Z0, A4R8N4, A5U697, A9MI67, A9MZC5, B2AWS3, B2J6D9, B4TBY1, B4TPQ7, B7UNM4, C0Q3L2, P03689, P0AF78, P0AF79, P0AFM6, P0AFM7, P0AFM8, P32780, P54617, P9WHP4, P9WHP5, Q01076, Q2H922, Q4V8C8, Q55707, Q5E994, Q5R605, Q5ZKX1, Q5ZLM0, Q6NUD8, Q6P1J9, Q6PHF0, Q7LBR1, Q7T339, Q7ZVB1, Q8GXN6, Q8JZM7, Q91VH2, Q921W0, Q9CQD4

Diamond homologs: O60074, O96552, P69771, Q5E994, Q5R605, Q5ZKX1, Q6DF27, Q6NUD8, Q6PHF0, Q7LBR1, Q7SZB5, Q7ZVB1, Q84VG1, Q8LE58, Q921W0, Q99LU0, Q9CQD4, Q9HD42, Q9SSM4

SIGNOR signaling

1 interactions.

A	Effect	B	Mechanism
CHMP1B	“form complex”	ESCRT-III	binding

Enriched among interaction partners

Reactome pathways and GO biological processes over-represented among this gene’s 75 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
Budding and maturation of HIV virion	7	62.1×	4e-09
Endosomal Sorting Complex Required For Transport (ESCRT)	7	56.1×	5e-09
HCMV Late Events	5	10.7×	7e-03

GO biological processes:

GO term	Partners	Fold	FDR
nuclear membrane reassembly	6	97.5×	1e-09
midbody abscission	8	96.1×	1e-12
viral budding via host ESCRT complex	7	92.1×	6e-11
multivesicular body sorting pathway	7	92.1×	6e-11
multivesicular body assembly	10	86.3×	5e-15
ubiquitin-dependent protein catabolic process via the multivesicular body sorting pathway	7	62.4×	1e-09
regulation of centrosome duplication	5	60.1×	6e-07
regulation of mitotic spindle assembly	5	60.1×	6e-07

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	1
Likely pathogenic	1
Uncertain significance	33
Likely benign	1
Benign	1

Top pathogenic / likely-pathogenic (2)

Variant ID	HGVS	Classification
1460398	NC_000018.9:g.(?11752433)(11881134_?)del	Pathogenic
425529	GRCh37/hg19 18p11.21(chr18:11752397-11881133)x3	Likely pathogenic

SpliceAI

23 predictions. Top by Δscore:

Variant	Effect	Δscore
18:11852067:G:GT	donor_gain	0.7900
18:11852133:T:A	donor_gain	0.7000
18:11851465:C:CA	acceptor_gain	0.6500
18:11852442:G:GA	donor_gain	0.5100
18:11852105:A:G	donor_gain	0.4000
18:11852111:ACG:A	donor_gain	0.4000
18:11852132:T:TA	donor_gain	0.4000
18:11852441:T:TA	donor_gain	0.3800
18:11852128:G:GT	donor_gain	0.3400
18:11852107:TGTG:T	donor_gain	0.3300
18:11852106:GT:G	donor_gain	0.3200
18:11852134:TCCT:T	donor_gain	0.2900
18:11853840:TGAG:T	acceptor_gain	0.2800
18:11851908:G:GT	donor_gain	0.2700
18:11851974:G:GT	donor_gain	0.2600
18:11853841:GAGA:G	acceptor_gain	0.2600
18:11853969:T:A	donor_gain	0.2600
18:11853839:TTGAG:T	acceptor_gain	0.2300
18:11851774:TGACC:T	donor_gain	0.2200
18:11851984:A:G	donor_gain	0.2200
18:11852443:GTTG:G	donor_gain	0.2100
18:11853919:TTC:T	donor_gain	0.2000
18:11853968:G:A	donor_gain	0.2000

AlphaMissense

1340 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
18:11851666:C:A	A52D	1.000
18:11851674:G:C	A55P	1.000
18:11851863:T:C	F118L	1.000
18:11851865:C:A	F118L	1.000
18:11851865:C:G	F118L	1.000
18:11851543:T:C	L11P	0.999
18:11851654:C:A	A48E	0.999
18:11851665:G:C	A52P	0.999
18:11851719:G:C	A70P	0.999
18:11851723:G:C	R71P	0.999
18:11851726:T:A	V72D	0.999
18:11851731:G:C	A74P	0.999
18:11851737:G:C	A76P	0.999
18:11851747:T:A	V79D	0.999
18:11851755:G:C	A82P	0.999
18:11851864:T:C	F118S	0.999
18:11851980:G:C	A157P	0.999
18:11851554:G:C	A15P	0.998
18:11851564:T:C	L18P	0.998
18:11851575:G:C	A22P	0.998
18:11851626:G:C	A39P	0.998
18:11851681:G:C	R57P	0.998
18:11851695:G:C	A62P	0.998
18:11851732:C:A	A74E	0.998
18:11851735:T:A	V75E	0.998
18:11851740:G:C	A77P	0.998
18:11851864:T:G	F118C	0.998
18:11851885:T:C	L125P	0.998
18:11851966:T:C	L152P	0.998
18:11851989:G:C	A160P	0.998

dbSNP variants (sampled 300 via entrez): RS1000531446 (18:11852464 G>A,T), RS1000752031 (18:11854141 T>C), RS1000752397 (18:11853927 A>T), RS1000899948 (18:11851214 G>A,C,T), RS1001141044 (18:11851293 C>G,T), RS1002165187 (18:11852224 C>T), RS1003250484 (18:11852208 C>T), RS1003253703 (18:11852397 C>G), RS1003344886 (18:11849531 G>A,T), RS1005133475 (18:11853726 C>G), RS1005408355 (18:11852349 A>G), RS1005572794 (18:11850817 G>A), RS1005607129 (18:11850574 C>T), RS1005729382 (18:11852163 C>A,T), RS1006375138 (18:11853263 A>C)

Disease associations

OMIM: gene MIM:606486 | disease phenotypes:

GenCC curated gene-disease

Mondo (1): dystonic disorder (MONDO:0003441)

Orphanet (0):

HPO phenotypes

1 total (1 of 1 shown, HPO-id order):

HPO	Term
HP:0001332	Dystonia

GWAS associations

1 associations (top):

Study	Trait	p-value
GCST009391_1717	Metabolite levels	6.000000e-06

EFO canonical traits (1, from GWAS)

EFO ID	Trait name
EFO:0010341	cholesteryl ester 16:0 measurement

MeSH disease descriptors (1)

Descriptor	Name	Tree numbers
D020821	Dystonic Disorders	C10.228.662.300

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

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

CTD chemical–gene interactions

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

Chemical	Actions (top 5)	PubMed papers
sodium arsenite	decreases expression, increases abundance, increases expression	2
Phenylmercuric Acetate	affects cotreatment, increases expression	2
Tobacco Smoke Pollution	affects expression, increases expression	2
Valproic Acid	affects expression, increases expression	2
aristolochic acid I	increases expression	1
methylmercuric chloride	increases expression	1
triphenyl phosphate	affects expression	1
trichostatin A	affects expression	1
2-butenal	increases expression	1
zinc chromate	increases abundance, increases expression	1
di-n-butylphosphoric acid	affects expression	1
chromium hexavalent ion	increases abundance, increases expression	1
K 7174	increases expression	1
4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide	affects cotreatment, increases expression	1
erucylphospho-N,N,N-trimethylpropylammonium	increases expression	1
abrine	decreases expression	1
dorsomorphin	affects cotreatment, increases expression	1
(+)-JQ1 compound	increases expression	1
PCI 5002	affects cotreatment, increases expression	1
Arsenic	increases abundance, increases expression	1
Benzo(a)pyrene	affects methylation	1
Copper	affects binding, decreases expression	1
Dichlorodiphenyl Dichloroethylene	decreases expression	1
Disulfiram	affects binding, decreases expression	1
Estradiol	decreases expression	1
Urethane	affects expression	1
Zinc	affects cotreatment, increases expression	1
7,8-Dihydro-7,8-dihydroxybenzo(a)pyrene 9,10-oxide	increases expression	1
Cyclosporine	increases expression	1
Antirheumatic Agents	decreases expression	1

Cellosaurus cell lines

1 cell lines: 1 cancer cell line

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

Cellosaurus	Name	Category	Sex
CVCL_XM79	HAP1 CHMP1B (-)	Cancer cell line	Male

Clinical trials (associated diseases)

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

Trial	Phase	Status	Title
NCT00142259	PHASE4	UNKNOWN	Efficacy and Safety of DBS of the GPi in Patients With Primary Generalized and Segmental Dystonia
NCT00950196	PHASE4	COMPLETED	Amantadine for Improving Neurologic Symptoms in Ataxia-Telangiectasia
NCT00998660	PHASE4	COMPLETED	RECHARGE Sub-Study to the Implantable Systems Performance Registry (ISPR)
NCT02263417	PHASE4	COMPLETED	A Randomized Controlled Trail Comparing Subthalamic and Pallidal Deep Brain Stimulation for Dystonia
NCT00169403	PHASE3	UNKNOWN	Pallidal Stimulation in Patients With Idiopathic Generalised Dystonia
NCT03232320	PHASE3	COMPLETED	Meditoxin® Treatment in Patients With Cervical Dystonia
NCT00001784	PHASE2	COMPLETED	Mexiletine for the Treatment of Focal Dystonia
NCT00105430	PHASE2	COMPLETED	Deep Brain Stimulation for Cervical Dystonia
NCT00106782	PHASE2	COMPLETED	Transcranial Electrical Polarization to Treat Focal Hand Dystonia
NCT00122044	PHASE2	COMPLETED	Childhood Hypertonia of Central Origin: A Trial of Anticholinergic Treatment Effects
NCT00169338	PHASE2	COMPLETED	Pallidal Stimulation in Patients With Post-anoxic and Idiopathic Dystonia
NCT00331669	PHASE2	UNKNOWN	Efficacy and Safety of Deep Brain Stimulation (DBS) of the Pallidal (GPi) in Patients With Tardive Dystonia
NCT02107261	PHASE2	COMPLETED	Incobotulinum Toxin A (Xeomin®) As A Treatment For Focal Task-Specific Dystonia Of The Musician’s Hand
NCT02470325	PHASE2	UNKNOWN	The Effects of Cannabis on Dystonia and Spasticity on Pediatric Patients
NCT05027997	PHASE2	COMPLETED	Exploratory Study of Dipraglurant (ADX48621) for the Treatment of Patients With Blepharospasm
NCT06412653	PHASE2	COMPLETED	Prospective Pilot Trial to Address Feasibility and Safety of Oral Zinc in GNAO1 Associated Disorders
NCT07304089	PHASE2	RECRUITING	A Study to Evaluate the Efficacy, Safety, and Tolerability of VIM0423 in Individuals With Isolated Dystonia
NCT01433757	PHASE1	COMPLETED	Ampicillin for DYT-1 Dystonia Motor Symptoms
NCT01698450	PHASE1	COMPLETED	Magnetic Resonance (MR) Guided Functional Ultrasound-Neurosurgery for Movement Disorders
NCT02982304	PHASE1	UNKNOWN	Multi-Target Pallidal and Thalamic Deep Brain Stimulation for Hemi-Dystonia
NCT06117020	PHASE1	COMPLETED	Single and Multiple Ascending Dose Study of MTR-601 in Healthy Individuals
NCT06554288	PHASE1	RECRUITING	Pharmacogenomic Contributions to Trihexyphenidyl Biotransformation and Response in Children With Dystonic Cerebral Palsy
NCT00004421	PHASE2/PHASE3	COMPLETED	Deep Brain Stimulation in Treating Patients With Dystonia
NCT00272246	PHASE2/PHASE3	UNKNOWN	Bilateral Internal Pallidum Stimulation in Primary Generalized Dystonia
NCT00608231	PHASE2/PHASE3	WITHDRAWN	Dexmedetomidine Effects on Microelectrode Recording in Deep Brain Stimulation
NCT04277247	PHASE2/PHASE3	UNKNOWN	Botulinum Toxin Type A for Foot Dystonia-associated Pain in Parkinson’s Disease
NCT02015039	PHASE1/PHASE2	COMPLETED	Pilot Trial of Botulinum Toxin and Occupational Therapy for Writer’s Cramp
NCT02911103	PHASE1/PHASE2	ACTIVE_NOT_RECRUITING	Deep Brain Stimulation Surgery for Focal Hand Dystonia
NCT04727177	EARLY_PHASE1	UNKNOWN	Precision-targeted Transcranial Magnetic Stimulation in the Treatment of Primary Dystonia
NCT00006336	Not specified	COMPLETED	Sensory Training to Treat Focal Dystonia
NCT00017875	Not specified	COMPLETED	Transcranial Magnetic Stimulation (TMS) Studies of Dystonia
NCT00029601	Not specified	COMPLETED	Surround Inhibition in Patients With Dystonia
NCT00031369	Not specified	TERMINATED	Brain Anatomy in Dystonia
NCT00047957	Not specified	COMPLETED	Brain Inhibition of Muscle Movement in Normal Volunteers
NCT00050024	Not specified	COMPLETED	Transcranial Magnetic Stimulation and Electrical Stimulation of Nerves to Study Focal Dystonia
NCT00072956	Not specified	COMPLETED	The Physiology of Tricks
NCT00082615	Not specified	COMPLETED	Neurophysiological Markers in Patients With Craniofacial Dystonia and Their Relatives
NCT00102999	Not specified	COMPLETED	Brain Function in Focal Dystonia
NCT00285870	Not specified	COMPLETED	Quantification of Upper Extremity Hypertonia
NCT00355927	Not specified	UNKNOWN	Sedation During Microelectrode Recordings Before Deep Brain Stimulation for Movement Disorders.