KCTD17

Summary

KCTD17 (potassium channel tetramerization domain containing 17, HGNC:25705) is a protein-coding gene on chromosome 22q12.3, encoding BTB/POZ domain-containing protein KCTD17 (Q8N5Z5). Substrate-adapter for CUL3-RING ubiquitin ligase complexes which mediates the ubiquitination and subsequent proteasomal degradation of TCHP, a protein involved in ciliogenesis down-regulation.

This gene encodes a protein that belongs to a conserved family of potassium channel tetramerization domain (KCTD)-containing proteins. The encoded protein functions in ciliogenesis by acting as a substrate adaptor for the cullin3-based ubiquitin-conjugating enzyme E3 ligase, and targets trichoplein, a keratin-binding protein, for degradation via polyubiquitinylation. A mutation in this gene is associated with autosomal dominant myoclonic dystonia 26.

Source: NCBI Gene 79734 — RefSeq curated summary.

At a glance

• Gene–disease (curated): myoclonic dystonia 26 (Strong, GenCC) — +1 more curated relationship
• GWAS associations: 8
• Clinical variants (ClinVar): 199 total — 3 pathogenic, 2 likely-pathogenic
• Phenotypes (HPO): 20
• MANE Select transcript: NM_001282684

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:25705
Approved symbol	KCTD17
Name	potassium channel tetramerization domain containing 17
Location	22q12.3
Locus type	gene with protein product
Status	Approved
Aliases	FLJ12242
Ensembl gene	ENSG00000100379
Ensembl biotype	protein_coding
OMIM	616386
Entrez	79734

Gene structure

Transcript identifiers

Ensembl transcripts: 11 — 7 protein_coding, 3 retained_intron, 1 nonsense_mediated_decay

ENST00000402077, ENST00000403888, ENST00000421900, ENST00000431531, ENST00000456470, ENST00000462640, ENST00000478231, ENST00000483389, ENST00000610767, ENST00000851347, ENST00000949216

RefSeq mRNA: 4 — MANE Select: NM_001282684 NM_001282684, NM_001282685, NM_001282686, NM_024681

CCDS: CCDS13940, CCDS74854, CCDS74855

Canonical transcript exons

ENST00000403888 — 9 exons

Exon	Start	End
ENSE00001338948	37061104	37061175
ENSE00001939393	37062525	37063390
ENSE00003458354	37059313	37059438
ENSE00003476044	37057398	37057493
ENSE00003529078	37060823	37060922
ENSE00003553183	37053100	37053208
ENSE00003640926	37061539	37061629
ENSE00003648370	37056320	37056411
ENSE00003740077	37051742	37051949

Expression profiles

Bgee: expression breadth ubiquitous, 225 present calls, max score 97.78.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 17.8565 / max 276.4622, expressed in 1722 samples.

FANTOM5 promoters (6 alternative TSS)

Promoter ID	TPM avg	Samples expressed
192105	16.2509	1721
192104	0.7455	447
192108	0.6614	298
192106	0.1178	49
192107	0.0693	24
192109	0.0116	5

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
putamen	UBERON:0001874	97.78	gold quality
caudate nucleus	UBERON:0001873	97.53	gold quality
nucleus accumbens	UBERON:0001882	97.39	gold quality
right frontal lobe	UBERON:0002810	96.66	gold quality
prefrontal cortex	UBERON:0000451	96.23	gold quality
cingulate cortex	UBERON:0003027	95.95	gold quality
anterior cingulate cortex	UBERON:0009835	95.86	gold quality
amygdala	UBERON:0001876	95.27	gold quality
Brodmann (1909) area 9	UBERON:0013540	95.10	gold quality
adenohypophysis	UBERON:0002196	95.02	gold quality
left testis	UBERON:0004533	94.53	gold quality
right testis	UBERON:0004534	94.29	gold quality
pituitary gland	UBERON:0000007	94.12	gold quality
neocortex	UBERON:0001950	93.72	gold quality
frontal cortex	UBERON:0001870	93.68	gold quality
mucosa of transverse colon	UBERON:0004991	93.66	gold quality
ventricular zone	UBERON:0003053	93.47	gold quality
dorsolateral prefrontal cortex	UBERON:0009834	93.39	gold quality
telencephalon	UBERON:0001893	93.11	gold quality
cortical plate	UBERON:0005343	93.02	gold quality
forebrain	UBERON:0001890	92.91	gold quality
testis	UBERON:0000473	92.49	gold quality
ganglionic eminence	UBERON:0004023	92.42	gold quality
type B pancreatic cell	CL:0000169	92.36	gold quality
cerebral cortex	UBERON:0000956	91.98	gold quality
brain	UBERON:0000955	91.93	gold quality
central nervous system	UBERON:0001017	91.83	gold quality
right atrium auricular region	UBERON:0006631	91.15	gold quality
tendon of biceps brachii	UBERON:0008188	91.15	gold quality
olfactory bulb	UBERON:0002264	91.12	gold quality

Single-cell (SCXA)

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

Experiment	Marker?	Max mean expression
E-ANND-3	no	1.59

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

33 targeting KCTD17, 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-4500	99.99	72.72	2367
HSA-LET-7A-5P	99.98	72.29	1790
HSA-LET-7B-5P	99.98	72.31	1790
HSA-LET-7C-5P	99.98	72.29	1790
HSA-LET-7E-5P	99.98	72.29	1790
HSA-LET-7F-5P	99.98	72.56	1784
HSA-LET-7G-5P	99.98	72.37	1784
HSA-LET-7I-5P	99.98	72.37	1788
HSA-MIR-98-5P	99.98	72.33	1787
HSA-LET-7D-5P	99.96	71.76	1632
HSA-MIR-4458	99.96	71.64	1650
HSA-MIR-6756-5P	99.82	67.97	2466
HSA-MIR-6764-5P	99.75	67.89	2304
HSA-MIR-92A-2-5P	99.75	67.01	2164
HSA-MIR-6766-5P	99.68	67.70	2325
HSA-MIR-5003-5P	99.61	69.13	1624
HSA-MIR-1915-3P	99.58	66.79	1988
HSA-MIR-7106-5P	99.53	67.47	3574
HSA-MIR-3612	99.45	66.02	1333
HSA-MIR-650	99.45	65.77	1309
HSA-MIR-150-3P	99.43	70.51	920
HSA-MIR-6839-3P	99.39	68.86	1301
HSA-MIR-4695-5P	99.06	64.87	1151
HSA-MIR-4651	99.06	67.57	2002
HSA-MIR-608	98.93	67.83	2013
HSA-MIR-1294	98.91	69.26	1030
HSA-MIR-9986	98.91	69.28	1024
HSA-MIR-4317	98.49	67.09	987
HSA-MIR-4769-3P	97.95	68.17	1002
HSA-MIR-6817-5P	97.95	67.86	1026

Literature-anchored findings (GeneRIF, showing 1)

• A missense mutation in KCTD17 causes autosomal dominant myoclonus-dystonia. (PMID:25983243)

Cross-species orthologs

5 orthologs

Organism	Symbol	Gene ID
danio_rerio	kctd17	ENSDARG00000056050
mus_musculus	Kctd17	ENSMUSG00000033287
rattus_norvegicus	Kctd17	ENSRNOG00000000231
drosophila_melanogaster	inc	FBGN0025394
caenorhabditis_elegans		WBGENE00016871

Paralogs (3): KCTD9 (ENSG00000104756), KCTD5 (ENSG00000167977), KCTD2 (ENSG00000180901)

Protein

Protein identifiers

BTB/POZ domain-containing protein KCTD17 — Q8N5Z5 (reviewed: Q8N5Z5)

All UniProt accessions (5): Q8N5Z5, A0A087WX35, B0QYB2, H0Y731, H7C323

UniProt curated annotations — full annotation on UniProt →

Function. Substrate-adapter for CUL3-RING ubiquitin ligase complexes which mediates the ubiquitination and subsequent proteasomal degradation of TCHP, a protein involved in ciliogenesis down-regulation. Thereby, positively regulates ciliogenesis, playing a crucial role in the initial steps of axoneme extension. May also play a role in endoplasmic reticulum calcium ion homeostasis.

Subunit / interactions. Homopentamer; forms a closed pentamer. Interacts with CUL3; interaction is direct and forms a 5:5 heterodecamer. Interacts with TCHP. Interacts with CUL3, as part of the BCR(KCTD17) E3 ubiquitin ligase complex, at least composed of CUL3, KCTD17 and RBX1.

Subcellular location. Cytoplasm.

Tissue specificity. Highly expressed in brain. Highest expression is observed in the putamen and the thalamus.

Disease relevance. Dystonia 26, myoclonic (DYT26) [MIM:616398] A form of dystonia, a disorder defined by the presence of sustained involuntary muscle contraction, often leading to abnormal postures. DYT26 is an autosomal dominant, progressive disorder characterized by a combination of non-epileptic myoclonic jerks and dystonia. Affected individuals manifest myoclonic jerks in the upper limbs during the first or second decade of life, and later develop dystonia with predominant involvement of the craniocervical regions and sometimes the trunk and/or lower limbs. The disease is caused by variants affecting the gene represented in this entry.

Isoforms (2)

UniProt ID	Names	Canonical?
Q8N5Z5-1	1	yes
Q8N5Z5-2	2

RefSeq proteins (4): NP_001269613, NP_001269614, NP_001269615, NP_078957 (=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR000210	BTB/POZ_dom	Domain
IPR003131	T1-type_BTB	Domain
IPR011333	SKP1/BTB/POZ_sf	Homologous_superfamily

Pfam: PF02214

UniProt features (17 total): helix 6, strand 3, sequence variant 2, chain 1, domain 1, region of interest 1, coiled-coil region 1, compositionally biased region 1, splice variant 1

Structure

Experimental structures (PDB)

1 structures.

PDB	Method	Resolution (Å)
5A6R	X-RAY DIFFRACTION	2.85

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q8N5Z5-F1	71.59	0.41

Function

Pathways and Gene Ontology

Reactome pathways

0 pathways

MSigDB gene sets: 189 (showing top): KAAB_HEART_ATRIUM_VS_VENTRICLE_UP, GOBP_MACROMOLECULE_CATABOLIC_PROCESS, GOBP_POSITIVE_REGULATION_OF_ORGANELLE_ORGANIZATION, GOBP_REGULATION_OF_CELLULAR_COMPONENT_BIOGENESIS, MONNIER_POSTRADIATION_TUMOR_ESCAPE_UP, MODULE_66, MODULE_118, GOBP_POSITIVE_REGULATION_OF_CELLULAR_COMPONENT_BIOGENESIS, GOBP_REGULATION_OF_CELL_PROJECTION_ORGANIZATION, KESHELAVA_MULTIPLE_DRUG_RESISTANCE, MODULE_379, SHETH_LIVER_CANCER_VS_TXNIP_LOSS_PAM1, GOBP_CILIUM_ORGANIZATION, GOBP_ORGANELLE_ASSEMBLY, GOBP_ENDOPLASMIC_RETICULUM_CALCIUM_ION_HOMEOSTASIS

GO Biological Process (5): cell projection organization (GO:0030030), endoplasmic reticulum calcium ion homeostasis (GO:0032469), proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161), positive regulation of cilium assembly (GO:0045724), protein homooligomerization (GO:0051260)

GO Molecular Function (4): identical protein binding (GO:0042802), cullin family protein binding (GO:0097602), ubiquitin-like ligase-substrate adaptor activity (GO:1990756), protein binding (GO:0005515)

GO Cellular Component (3): cytoplasm (GO:0005737), endoplasmic reticulum (GO:0005783), Cul3-RING ubiquitin ligase complex (GO:0031463)

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
protein binding	2
cellular component organization	1
endoplasmic reticulum	1
intracellular calcium ion homeostasis	1
ubiquitin-dependent protein catabolic process	1
proteasomal protein catabolic process	1
cilium assembly	1
positive regulation of plasma membrane bounded cell projection assembly	1
regulation of cilium assembly	1
positive regulation of organelle assembly	1
protein complex oligomerization	1
enzyme-substrate adaptor activity	1
binding	1
intracellular anatomical structure	1
cellular anatomical structure	1
cytoplasm	1
endomembrane system	1
intracellular membrane-bounded organelle	1
cullin-RING ubiquitin ligase complex	1

Protein interactions and networks

STRING

714 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
KCTD17	CUL3	Q13618	918
KCTD17	RBX1	P62877	740
KCTD17	KCTD11	Q693B1	689
KCTD17	SGCE	O43556	596
KCTD17	ANO3	Q9BYT9	563
KCTD17	KCTD20	Q7Z5Y7	502
KCTD17	KCTD19	Q17RG1	475
KCTD17	BTBD10	Q9BSF8	437
KCTD17	THAP1	Q9NVV9	434
KCTD17	GNAL	P38405	418
KCTD17	NDE1	Q9NXR1	415
KCTD17	NDEL1	Q9GZM8	406
KCTD17	KCTD2	Q14681	404
KCTD17	KIAA0586	Q9BVV6	400
KCTD17	IFT20	Q8IY31	394

IntAct

196 interactions, top by confidence:

A	B	Type	Score
STK16	KCTD17	psi-mi:“MI:0915”(physical association)	0.780
KCTD17	STK16	psi-mi:“MI:0915”(physical association)	0.780
NHERF2	PODXL	psi-mi:“MI:0914”(association)	0.770
DMC1	KCTD17	psi-mi:“MI:0915”(physical association)	0.670
KCTD17	DMC1	psi-mi:“MI:0915”(physical association)	0.670
TFAP4	ANGPTL7	psi-mi:“MI:0914”(association)	0.640
ARRDC1	NEDD4	psi-mi:“MI:0914”(association)	0.640
GNG8	GNB5	psi-mi:“MI:0914”(association)	0.640
KCTD17	OR51E1	psi-mi:“MI:0915”(physical association)	0.560
LAT	KCTD17	psi-mi:“MI:0915”(physical association)	0.560
	KCTD17	psi-mi:“MI:0915”(physical association)	0.560
NCK2	KCTD17	psi-mi:“MI:0915”(physical association)	0.560
FARS2	KCTD17	psi-mi:“MI:0915”(physical association)	0.560
ALB	KCTD17	psi-mi:“MI:0915”(physical association)	0.560
KCTD17	APBB2	psi-mi:“MI:0915”(physical association)	0.560
KCTD17	CASP6	psi-mi:“MI:0915”(physical association)	0.560
KCTD17	CHAT	psi-mi:“MI:0915”(physical association)	0.560
KCTD17	DMWD	psi-mi:“MI:0915”(physical association)	0.560
KCTD17		psi-mi:“MI:0915”(physical association)	0.560
KCTD17	FGFR3	psi-mi:“MI:0915”(physical association)	0.560
KCTD17	FKBP1A	psi-mi:“MI:0915”(physical association)	0.560
KCTD17	FLNA	psi-mi:“MI:0915”(physical association)	0.560

BioGRID (220): KCTD17 (Affinity Capture-MS), KCTD17 (Affinity Capture-MS), KCTD17 (Two-hybrid), KCTD17 (Two-hybrid), ACAD11 (Affinity Capture-MS), RECQL4 (Affinity Capture-MS), SPECC1L (Affinity Capture-MS), POLK (Affinity Capture-MS), PIP5K1A (Affinity Capture-MS), PPP1R9A (Affinity Capture-MS), KCTD2 (Affinity Capture-MS), KCTD5 (Affinity Capture-MS), ZNF687 (Affinity Capture-MS), CDK5RAP1 (Affinity Capture-MS), CDC42BPA (Affinity Capture-MS)

ESM2 similar proteins: A0A5N6H279, A4D2B8, D3ZML2, O76081, O91531, P03327, P0C678, P0C733, P79348, Q00731, Q09PK2, Q13670, Q1HVB5, Q1ZZU3, Q4KL35, Q4R1S1, Q52993, Q5JLA7, Q5JN07, Q5MFW3, Q63553, Q64902, Q6DN03, Q6NUI1, Q6P050, Q6SW81, Q86UQ5, Q8AZJ3, Q8BG31, Q8BVZ5, Q8CE90, Q8CEZ0, Q8K3M5, Q8LN49, Q8N5Z5, Q8TE04, Q8VDU5, Q8WTX9, Q8WXT5, Q9BTV7

Diamond homologs: A3KMV1, A4IFB4, A5PKG7, A6H6X4, B1WC97, B5DEL1, D5SHR0, G5EFC3, O65555, P0C5J9, P15388, P17971, P17972, P25122, P48547, P59994, P59995, Q01956, Q03607, Q03719, Q0VD00, Q0VFV7, Q14003, Q14681, Q29RJ0, Q2HJ48, Q2TUM3, Q3URF8, Q4G0X4, Q50H33, Q52PG9, Q54KH0, Q5DTY9, Q5M956, Q5XJ34, Q5ZJP7, Q62897, Q63881, Q63959, Q68DU8

SIGNOR signaling

2 interactions.

A	Effect	B	Mechanism
KCTD17	“down-regulates quantity by destabilization”	TCHP	binding
KCTD17	“up-regulates activity”	“Cullin 3-RBX1-Skp1”	binding

Enriched among interaction partners

Reactome pathways and GO biological processes over-represented among this gene’s 108 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
Prostacyclin signalling through prostacyclin receptor	5	42.3×	5e-05
Glucagon-type ligand receptors	5	24.4×	3e-04
Vasopressin regulates renal water homeostasis via Aquaporins	6	22.4×	7e-05
Glucagon-like Peptide-1 (GLP1) regulates insulin secretion	5	18.7×	6e-04
ADORA2B mediated anti-inflammatory cytokines production	5	17.9×	6e-04
GPER1 signaling	5	17.5×	6e-04
G alpha (z) signalling events	5	16.4×	6e-04
Regulation of RAS by GAPs	5	13.6×	1e-03

GO biological processes:

GO term	Partners	Fold	FDR
T cell activation	6	15.4×	2e-03

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	3
Likely pathogenic	2
Uncertain significance	83
Likely benign	77
Benign	18

Top pathogenic / likely-pathogenic (5)

Variant ID	HGVS	Classification
191372	NM_001282684.2(KCTD17):c.413G>A (p.Arg138His)	Pathogenic
2765450	NM_001282684.2(KCTD17):c.547dup (p.Val183fs)	Pathogenic
3237472	NM_001282684.2(KCTD17):c.487-1G>C	Pathogenic
3909974	NM_001282684.2(KCTD17):c.487-1G>T	Likely pathogenic
4813647	NM_001282684.2(KCTD17):c.461T>A (p.Met154Lys)	Likely pathogenic

SpliceAI

1203 predictions. Top by Δscore:

Variant	Effect	Δscore
22:37051929:G:GT	donor_gain	1.0000
22:37051929:G:T	donor_gain	1.0000
22:37051947:CGGG:C	donor_loss	1.0000
22:37051948:GG:G	donor_gain	1.0000
22:37051949:GG:G	donor_gain	1.0000
22:37051950:G:GG	donor_gain	1.0000
22:37051951:T:A	donor_loss	1.0000
22:37053098:A:AG	acceptor_gain	1.0000
22:37053098:A:C	acceptor_loss	1.0000
22:37053099:G:GC	acceptor_loss	1.0000
22:37053099:G:GT	acceptor_gain	1.0000
22:37053099:GGAT:G	acceptor_gain	1.0000
22:37053204:GGAGG:G	donor_gain	1.0000
22:37053205:GAGG:G	donor_gain	1.0000
22:37053205:GAGGG:G	donor_gain	1.0000
22:37053207:GG:G	donor_gain	1.0000
22:37053207:GGGT:G	donor_loss	1.0000
22:37053208:GG:G	donor_gain	1.0000
22:37053209:G:GG	donor_gain	1.0000
22:37053210:T:G	donor_loss	1.0000
22:37056308:T:TA	acceptor_gain	1.0000
22:37056312:T:A	acceptor_gain	1.0000
22:37056314:T:TA	acceptor_gain	1.0000
22:37056315:GCCA:G	acceptor_loss	1.0000
22:37056316:CCAG:C	acceptor_loss	1.0000
22:37056317:CA:C	acceptor_loss	1.0000
22:37056318:A:AG	acceptor_gain	1.0000
22:37056318:A:AT	acceptor_loss	1.0000
22:37056318:AG:A	acceptor_gain	1.0000
22:37056318:AGG:A	acceptor_gain	1.0000

AlphaMissense

2084 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
22:37051833:T:A	W32R	1.000
22:37051833:T:C	W32R	1.000
22:37051835:G:C	W32C	1.000
22:37051835:G:T	W32C	1.000
22:37051843:T:A	L35H	1.000
22:37051843:T:C	L35P	1.000
22:37051852:G:A	G38E	1.000
22:37051852:G:T	G38V	1.000
22:37051863:T:C	F42L	1.000
22:37051864:T:C	F42S	1.000
22:37051865:C:A	F42L	1.000
22:37051865:C:G	F42L	1.000
22:37051870:C:T	T44I	1.000
22:37051885:T:A	L49Q	1.000
22:37051905:T:C	F56L	1.000
22:37051906:T:C	F56S	1.000
22:37051906:T:G	F56C	1.000
22:37051907:C:A	F56L	1.000
22:37051907:C:G	F56L	1.000
22:37053119:T:C	L77P	1.000
22:37053122:T:A	I78N	1.000
22:37053122:T:G	I78S	1.000
22:37053124:G:C	D79H	1.000
22:37053125:A:C	D79A	1.000
22:37053125:A:G	D79G	1.000
22:37053125:A:T	D79V	1.000
22:37053126:C:A	D79E	1.000
22:37053126:C:G	D79E	1.000
22:37053127:C:A	R80S	1.000
22:37053128:G:C	R80P	1.000

dbSNP variants (sampled 300 via entrez): RS1000002552 (22:37062421 A>C,T), RS1000054833 (22:37055060 T>C), RS1000260033 (22:37052570 G>A,T), RS1000360347 (22:37054532 C>T), RS1000882799 (22:37059819 A>G), RS1000977070 (22:37059639 G>A,C,T), RS1001870139 (22:37054580 A>G), RS1002059360 (22:37060224 A>G), RS1002230306 (22:37062829 C>T), RS1002429957 (22:37059970 C>A), RS1002772632 (22:37050529 C>A), RS1002819261 (22:37055995 G>T), RS1003024111 (22:37061375 G>A,T), RS1003219731 (22:37055943 T>C), RS1003238442 (22:37050033 G>A)

Disease associations

OMIM: gene MIM:616386 | disease phenotypes: MIM:616398

GenCC curated gene-disease

Disease	Classification	Inheritance
myoclonic dystonia 26	Strong	Autosomal dominant
myoclonus-dystonia syndrome	Supportive	Autosomal dominant

Mondo (2): myoclonic dystonia 26 (MONDO:0014620), myoclonus-dystonia syndrome (MONDO:0000903)

Orphanet (0):

HPO phenotypes

20 total (20 of 20 shown, HPO-id order):

HPO	Term
HP:0000006	Autosomal dominant inheritance
HP:0000473	Torticollis
HP:0000643	Blepharospasm
HP:0000716	Depression
HP:0000722	Compulsive behaviors
HP:0000739	Anxiety
HP:0001260	Dysarthria
HP:0001332	Dystonia
HP:0001336	Myoclonus
HP:0001618	Dysphonia
HP:0002356	Writer’s cramp
HP:0003621	Juvenile onset
HP:0003676	Progressive
HP:0010531	Spinal myoclonus
HP:0011463	Childhood onset
HP:0012049	Laryngeal dystonia
HP:0012075	Personality disorder
HP:0025269	Panic attack
HP:0025708	Early young adult onset
HP:0045084	Limb myoclonus

GWAS associations

8 associations (top):

Study	Trait	p-value
GCST001765_30	Red blood cell traits	1.000000e-69
GCST004329_5	Mean corpuscular hemoglobin concentration	7.000000e-17
GCST004573_1	Iron status biomarkers (ferritin levels)	2.000000e-08
GCST012146_4	Hemoglobin levels	4.000000e-06
GCST90002392_139	Mean corpuscular volume	3.000000e-43
GCST90002397_604	Mean spheric corpuscular volume	1.000000e-14
GCST90002401_273	Platelet distribution width	1.000000e-22
GCST90016674_23	Liver iron content	8.000000e-31

EFO canonical traits (5, from GWAS)

EFO ID	Trait name
EFO:0004527	mean corpuscular hemoglobin
EFO:0004528	mean corpuscular hemoglobin concentration
EFO:0004459	ferritin measurement
EFO:0004509	hemoglobin measurement
EFO:0007984	platelet component distribution width

MeSH disease descriptors (1)

Descriptor	Name	Tree numbers
C536096	Myoclonic dystonia (supp.)

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

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

CTD chemical–gene interactions

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

Chemical	Actions (top 5)	PubMed papers
aristolochic acid I	decreases expression	1
bisphenol F	affects cotreatment, increases expression	1
dicrotophos	decreases expression	1
alpha-pinene	increases oxidation, increases abundance, affects cotreatment	1
kojic acid	decreases expression	1
beta-lapachone	decreases expression	1
sodium arsenite	increases abundance, increases expression	1
methacrylaldehyde	affects cotreatment, increases oxidation, increases abundance	1
abrine	decreases expression	1
jinfukang	affects cotreatment, increases expression	1
Acetaminophen	increases expression	1
Acrolein	affects cotreatment, increases oxidation, increases abundance	1
Air Pollutants	affects cotreatment, increases abundance, increases oxidation	1
Arbutin	decreases expression	1
Arsenic	increases abundance, increases expression	1
Benzo(a)pyrene	affects methylation	1
Cisplatin	affects cotreatment, increases expression	1
Dexamethasone	affects cotreatment, increases expression	1
Doxorubicin	decreases expression	1
Indomethacin	affects cotreatment, increases expression	1
Ozone	affects cotreatment, increases oxidation, increases abundance	1
Selenium	affects cotreatment, increases expression	1
Smoke	decreases expression	1
Tobacco Smoke Pollution	decreases expression	1
Valproic Acid	increases expression, increases methylation	1
Vitamin E	affects cotreatment, increases expression	1
1-Methyl-3-isobutylxanthine	affects cotreatment, increases expression	1
Cadmium Chloride	increases expression	1
Acrylamide	decreases expression	1
Volatile Organic Compounds	affects cotreatment, increases oxidation	1

Clinical trials (associated diseases)

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

Trial	Phase	Status	Title
NCT01806805	PHASE3	COMPLETED	Efficacy Trial of Zonisamide for Myoclonus Dystonia
NCT03428009	Not specified	RECRUITING	Dystonia Genotype-Phenotype Correlation
NCT05671068	Not specified	COMPLETED	EMOTION & COGNITION IN MYOCLONUS DYSTONIA (AGENT10-ECODYST)