UNC45B

Summary

UNC45B (unc-45 myosin chaperone B, HGNC:14304) is a protein-coding gene on chromosome 17q12, encoding Protein unc-45 homolog B (Q8IWX7). Acts as a co-chaperone for HSP90 and is required for proper folding of the myosin motor domain.

This gene encodes a co-chaperone required for folding and accumulation of type II myosins. The protein consists of three tetratricopeptide repeat motifs at the N-terminus that form a complex with heat shock protein 90, a central region of unknown function that is conserved in all Unc-45 proteins, and a C-terminal Unc-45/Cro1/She4 domain. The protein is expressed at high levels in striated muscle, where its muscle myosin chaperone activity is dependent on heat shock protein 90 acting as a co-chaperone. A missense mutation in this gene has been associated with cataract development. Alternative splicing results in multiple transcript variants.

Source: NCBI Gene 146862 — RefSeq curated summary.

At a glance

• Gene–disease (curated): myofibrillar myopathy 11 (Strong, GenCC) — +3 more curated relationships
• GWAS associations: 1
• Clinical variants (ClinVar): 397 total — 3 pathogenic, 3 likely-pathogenic
• Phenotypes (HPO): 25
• MANE Select transcript: NM_001267052

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:14304
Approved symbol	UNC45B
Name	unc-45 myosin chaperone B
Location	17q12
Locus type	gene with protein product
Status	Approved
Aliases	UNC45
Ensembl gene	ENSG00000141161
Ensembl biotype	protein_coding
OMIM	611220
Entrez	146862

Gene structure

Transcript identifiers

Ensembl transcripts: 22 — 22 protein_coding

ENST00000268876, ENST00000394570, ENST00000591048, ENST00000870785, ENST00000870786, ENST00000870787, ENST00000958206, ENST00000958207, ENST00000958208, ENST00000958209, ENST00000958210, ENST00000958211, ENST00000958212, ENST00000958213, ENST00000958214, ENST00000958215, ENST00000958216, ENST00000958217, ENST00000958218, ENST00000958219, ENST00000958220, ENST00000958221

RefSeq mRNA: 4 — MANE Select: NM_001267052 NM_001033576, NM_001267052, NM_001308281, NM_173167

CCDS: CCDS11292, CCDS45648, CCDS76993

Canonical transcript exons

ENST00000394570 — 20 exons

Exon	Start	End
ENSE00001017509	35177017	35177130
ENSE00001017510	35183427	35183582
ENSE00001017511	35180559	35180676
ENSE00001106162	35169837	35169931
ENSE00001106167	35163995	35164166
ENSE00001106173	35155296	35155464
ENSE00001106175	35152893	35152982
ENSE00001106181	35154574	35154741
ENSE00001106187	35177495	35177610
ENSE00001106203	35175968	35176034
ENSE00001106208	35171322	35171462
ENSE00001106210	35174242	35174369
ENSE00001106213	35168061	35168361
ENSE00001269943	35159375	35159545
ENSE00001269975	35150048	35150223
ENSE00001269984	35148973	35149009
ENSE00001477620	35147817	35147910
ENSE00001774788	35170114	35170255
ENSE00002901076	35186299	35189343
ENSE00003755147	35148264	35148431

Expression profiles

Bgee: expression breadth ubiquitous, 111 present calls, max score 99.72.

FANTOM5 (CAGE): breadth tissue_specific, TPM avg 1.3513 / max 188.3367, expressed in 112 samples.

FANTOM5 promoters (2 alternative TSS)

Promoter ID	TPM avg	Samples expressed
160337	1.2928	110
160338	0.0585	28

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
left ventricle myocardium	UBERON:0006566	99.72	gold quality
cardiac muscle of right atrium	UBERON:0003379	99.71	gold quality
tibialis anterior	UBERON:0001385	98.63	gold quality
deltoid	UBERON:0001476	98.62	gold quality
vastus lateralis	UBERON:0001379	98.33	gold quality
quadriceps femoris	UBERON:0001377	98.30	gold quality
myocardium	UBERON:0002349	98.21	gold quality
skeletal muscle tissue of rectus abdominis	UBERON:0004511	98.09	gold quality
skeletal muscle tissue	UBERON:0001134	97.89	gold quality
biceps brachii	UBERON:0001507	97.67	gold quality
skeletal muscle tissue of biceps brachii	UBERON:0004502	97.65	gold quality
heart right ventricle	UBERON:0002080	97.38	gold quality
gastrocnemius	UBERON:0001388	96.31	gold quality
hindlimb stylopod muscle	UBERON:0004252	96.28	gold quality
body of tongue	UBERON:0011876	96.28	gold quality
skeletal muscle organ	UBERON:0014892	95.27	gold quality
cardiac ventricle	UBERON:0002082	94.99	gold quality
heart left ventricle	UBERON:0002084	94.99	gold quality
muscle of leg	UBERON:0001383	94.51	gold quality
apex of heart	UBERON:0002098	94.19	gold quality
cardiac atrium	UBERON:0002081	94.06	gold quality
right atrium auricular region	UBERON:0006631	93.72	gold quality
muscle tissue	UBERON:0002385	93.02	gold quality
heart	UBERON:0000948	92.51	gold quality
tongue	UBERON:0001723	86.91	gold quality
vena cava	UBERON:0004087	86.32	gold quality
right coronary artery	UBERON:0001625	80.12	gold quality
male germ line stem cell (sensu Vertebrata) in testis	CL:0000089 ∩ UBERON:0000473	78.50	gold quality
pancreatic ductal cell	CL:0002079	75.05	silver quality
left coronary artery	UBERON:0001626	73.74	gold quality

Single-cell (SCXA)

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

Experiment	Marker?	Max mean expression
E-ANND-3	no	4.03

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

115 targeting UNC45B, 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-5692B	100.00	71.32	2622
HSA-MIR-5692C	100.00	71.32	2622
HSA-MIR-4425	100.00	67.59	1049
HSA-MIR-371B-5P	99.99	75.34	4759
HSA-MIR-186-5P	99.99	70.83	3707
HSA-MIR-196A-1-3P	99.99	72.15	2772
HSA-MIR-548N	99.98	71.94	4170
HSA-MIR-373-5P	99.98	75.36	4753
HSA-MIR-616-5P	99.98	75.58	4775
HSA-MIR-548AN	99.97	70.91	2817
HSA-MIR-3148	99.97	75.06	6478
HSA-MIR-128-3P	99.95	71.17	2484
HSA-MIR-216A-3P	99.95	71.19	2505
HSA-MIR-539-5P	99.93	70.30	2855
HSA-MIR-3686	99.90	70.53	2432
HSA-MIR-95-5P	99.89	72.17	3973
HSA-MIR-3681-3P	99.88	70.46	2254
HSA-MIR-659-3P	99.85	70.69	1620
HSA-MIR-548AR-3P	99.85	71.26	3889
HSA-MIR-576-5P	99.84	70.46	2582
HSA-MIR-3133	99.81	70.92	3506
HSA-MIR-6739-5P	99.80	67.87	2806
HSA-MIR-6842-5P	99.80	67.54	1587
HSA-MIR-7110-5P	99.80	67.84	1712
HSA-MIR-4668-5P	99.79	70.58	3782
HSA-MIR-6733-5P	99.74	67.94	2759
HSA-MIR-4719	99.73	72.10	3329
HSA-MIR-4524A-3P	99.72	66.85	2406
HSA-MIR-4422	99.72	72.07	2908

Literature-anchored findings (GeneRIF, showing 4)

• We have characterized a human UNC45B mutation in a Danish family with autosomal dominant cataract developing in early childhood. (PMID:24549050)
• temperature-dependent structural changes in the UCS chaperone domain of UNC-45B that occur within a physiologically relevant heat-shock range. (PMID:25436418)
• Pathogenic Variants in the Myosin Chaperone UNC-45B Cause Progressive Myopathy with Eccentric Cores. (PMID:33217308)
• Cardiac myofibrillogenesis is spatiotemporally modulated by the molecular chaperone UNC45B. (PMID:37295424)

Cross-species orthologs

5 orthologs

Organism	Symbol	Gene ID
danio_rerio	unc45b	ENSDARG00000008433
mus_musculus	Unc45b	ENSMUSG00000018845
rattus_norvegicus	Unc45b	ENSRNOG00000009466
drosophila_melanogaster	unc-45	FBGN0288846
caenorhabditis_elegans		WBGENE00006781

Paralogs (18): RPAP3 (ENSG00000005175), TOMM34 (ENSG00000025772), ST13 (ENSG00000100380), STUB1 (ENSG00000103266), SPAG1 (ENSG00000104450), SGTA (ENSG00000104969), TTC1 (ENSG00000113312), TTC31 (ENSG00000115282), UNC45A (ENSG00000140553), SPATA16 (ENSG00000144962), TTC12 (ENSG00000149292), TOMM70 (ENSG00000154174), SUGT1 (ENSG00000165416), STIP1 (ENSG00000168439), TTC32 (ENSG00000183891), SGTB (ENSG00000197860), TTC4 (ENSG00000243725), DNAAF4 (ENSG00000256061)

Protein

Protein identifiers

Protein unc-45 homolog B — Q8IWX7 (reviewed: Q8IWX7)

Alternative names: SMUNC45

All UniProt accessions (1): Q8IWX7

UniProt curated annotations — full annotation on UniProt →

Function. Acts as a co-chaperone for HSP90 and is required for proper folding of the myosin motor domain. Plays a role in sarcomere formation during muscle cell development. Is necessary for normal early lens development.

Subunit / interactions. Interacts with HSP90 in an ATP-independent manner. Interacts with UBE4B; the interaction may target UNC45B for proteasomal degradation.

Subcellular location. Cytoplasm. Myofibril. Sarcomere. Z line. A band. Perinuclear region. Cytosol.

Tissue specificity. Expressed in eye lens tissues. Expressed in muscle (at protein level).

Disease relevance. Cataract 43 (CTRCT43) [MIM:616279] An opacification of the crystalline lens of the eye that frequently results in visual impairment or blindness. Opacities vary in morphology, are often confined to a portion of the lens, and may be static or progressive. In general, the more posteriorly located and dense an opacity, the greater the impact on visual function. The disease is caused by variants affecting the gene represented in this entry. Myopathy, myofibrillar, 11 (MFM11) [MIM:619178] A form of myofibrillar myopathy, a group of chronic neuromuscular disorders characterized at ultrastructural level by disintegration of the sarcomeric Z disk and myofibrils, and replacement of the normal myofibrillar markings by small dense granules, or larger hyaline masses, or amorphous material. MFM11 is an autosomal recessive form characterized by onset of slowly progressive proximal muscle weakness in the first decade of life. More variable features may include decreased respiratory forced vital capacity, variable cardiac features, and calf hypertrophy. Skeletal muscle biopsy shows myopathic changes with variation in fiber size, type 1 fiber predominance, centralized nuclei, eccentrically placed core-like lesions, and distortion of the myofibrillary pattern with Z-line streaming and abnormal myofibrillar aggregates or inclusions. The disease is caused by variants affecting the gene represented in this entry.

Isoforms (3)

UniProt ID	Names	Canonical?
Q8IWX7-1	1	yes
Q8IWX7-2	2
Q8IWX7-3	3

RefSeq proteins (4): NP_001028748, NP_001253981, NP_001295210, NP_775259 (=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR000225	Armadillo	Repeat
IPR011989	ARM-like	Homologous_superfamily
IPR011990	TPR-like_helical_dom_sf	Homologous_superfamily
IPR016024	ARM-type_fold	Homologous_superfamily
IPR019734	TPR_rpt	Repeat
IPR024660	UCS_central_dom	Domain

Pfam: PF11701

UniProt features (18 total): sequence variant 9, repeat 6, splice variant 2, chain 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q8IWX7-F1	88.38	0.59

Function

Pathways and Gene Ontology

Reactome pathways

0 pathways

MSigDB gene sets: 134 (showing top): GSE18804_SPLEEN_MACROPHAGE_VS_COLON_TUMORAL_MACROPHAGE_DN, MYOGENIN_Q6, GCANCTGNY_MYOD_Q6, GGGTGGRR_PAX4_03, CAGCTG_AP4_Q5, GOBP_PROTEIN_MATURATION, SRF_C, GOBP_MUSCLE_STRUCTURE_DEVELOPMENT, GOBP_PROTEIN_FOLDING, ATGCTGG_MIR338, MYOD_Q6, E12_Q6, GOBP_SENSORY_ORGAN_DEVELOPMENT, TTCNRGNNNNTTC_HSF_Q6, GOBP_LENS_DEVELOPMENT_IN_CAMERA_TYPE_EYE

GO Biological Process (4): lens development in camera-type eye (GO:0002088), protein folding (GO:0006457), muscle organ development (GO:0007517), cell differentiation (GO:0030154)

GO Molecular Function (2): Hsp90 protein binding (GO:0051879), protein binding (GO:0005515)

GO Cellular Component (5): cytoplasm (GO:0005737), cytosol (GO:0005829), Z disc (GO:0030018), A band (GO:0031672), perinuclear region of cytoplasm (GO:0048471)

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
cellular anatomical structure	5
cytoplasm	2
camera-type eye development	1
anatomical structure development	1
cellular process	1
protein maturation	1
animal organ development	1
muscle structure development	1
cellular developmental process	1
heat shock protein binding	1
binding	1
intracellular anatomical structure	1
I band	1
sarcomere	1

Protein interactions and networks

STRING

1220 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
UNC45B	HSP90AA1	P07900	940
UNC45B	HSP90AB1	P08238	826
UNC45B	AHSA1	O95433	703
UNC45B	UBE4A	Q14139	688
UNC45B	UBE4B	O95155	670
UNC45B	HSPA4	P34932	669
UNC45B	MYH1	P12882	654
UNC45B	SMC5	Q8IY18	599
UNC45B	OR1E1	P30953	596
UNC45B	BAG3	O95817	585
UNC45B	SPATA18	Q8TC71	541
UNC45B	SPINK14	Q6IE38	515
UNC45B	FKBP4	Q02790	512
UNC45B	PGR	P06401	509
UNC45B	SMYD1	Q8NB12	500

IntAct

26 interactions, top by confidence:

A	B	Type	Score
RINT1	NBAS	psi-mi:“MI:0914”(association)	0.830
C1D	ZFC3H1	psi-mi:“MI:0914”(association)	0.640
UNC45B	HSP90AB1	psi-mi:“MI:0915”(physical association)	0.620
PWP2	FBL	psi-mi:“MI:0914”(association)	0.610
UNC45B	HSP90AA1	psi-mi:“MI:0914”(association)	0.560
IPO11	BSG	psi-mi:“MI:0914”(association)	0.560
HSP90AA1	UNC45B	psi-mi:“MI:0915”(physical association)	0.560
PSCA	ITGA6	psi-mi:“MI:0914”(association)	0.530
APRT	UNC45B	psi-mi:“MI:0915”(physical association)	0.400
DHTKD1	UNC45B	psi-mi:“MI:0915”(physical association)	0.400
ERBB2	UNC45B	psi-mi:“MI:0915”(physical association)	0.400
PSMC2	UNC45B	psi-mi:“MI:0915”(physical association)	0.400
UNC45B	HSPA2	psi-mi:“MI:0915”(physical association)	0.400
HSP90AB1	UNC45B	psi-mi:“MI:0915”(physical association)	0.400
UNC45B	CTCFL	psi-mi:“MI:0915”(physical association)	0.400
CFTR	UNC45B	psi-mi:“MI:0915”(physical association)	0.370
M		psi-mi:“MI:0914”(association)	0.350
GRIA1	GAPDHS	psi-mi:“MI:0914”(association)	0.350
BRD8	YEATS4	psi-mi:“MI:0914”(association)	0.350
OR5M8	UBE3A	psi-mi:“MI:0914”(association)	0.350
MTFMT	UNC45B	psi-mi:“MI:0914”(association)	0.350
CLEC4G	UNC45B	psi-mi:“MI:0914”(association)	0.350
TLE1	CKB	psi-mi:“MI:0914”(association)	0.350
UNC45B	EL52	psi-mi:“MI:0914”(association)	0.350

BioGRID (27): UNC45B (Affinity Capture-MS), HSP90AA5P (Affinity Capture-MS), UNC45B (Affinity Capture-MS), UNC45B (Affinity Capture-MS), UNC45B (Affinity Capture-MS), UNC45B (Affinity Capture-MS), UNC45B (Affinity Capture-MS), HSP90AB3P (Affinity Capture-MS), HSP90AA4P (Affinity Capture-MS), HSP90AA1 (Affinity Capture-MS), UNC45B (Affinity Capture-MS), UNC45B (Affinity Capture-MS), UNC45B (Affinity Capture-MS), HSP90AB1 (Affinity Capture-MS), HSP90AB4P (Affinity Capture-MS)

ESM2 similar proteins: A1Z6S7, A3LUY1, D7REX8, G5ED41, O14265, O44326, O60077, P21541, P29742, P34574, P38260, P40469, P41807, P46970, P51534, P53067, Q07395, Q22494, Q32PZ3, Q5RAP0, Q5ZI87, Q619W9, Q61A92, Q68F64, Q6BKV2, Q6CNM7, Q6CTY9, Q6DGE9, Q6FM01, Q75B89, Q75EM1, Q7K486, Q80XE1, Q80ZG0, Q8CGY6, Q8INF7, Q8IWX7, Q8MML6, Q95U54, Q99KD5

Diamond homologs: A2ZLU6, A4K2V0, A5PKG6, A6HD62, D3ZSP7, D7REX8, E4NKF8, E9Q735, F1RBN2, F8RP11, O13754, O13797, O14217, O16259, O35814, O54981, O80742, O81902, O88196, P0C6E7, P0CT30, P15705, P25638, P31948, P53041, P53042, P53804, Q07617, Q0IMG9, Q0JL44, Q14139, Q15785, Q32PZ3, Q388N2, Q3KRD5, Q3ZBR5, Q3ZBZ8, Q43468, Q496Y0, Q4R8N7

SIGNOR signaling

0 interactions.

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	3
Likely pathogenic	3
Uncertain significance	213
Likely benign	92
Benign	70

Top pathogenic / likely-pathogenic (6)

Variant ID	HGVS	Classification
187851	NM_001267052.2(UNC45B):c.2407C>T (p.Arg803Trp)	Pathogenic
834072	NM_001267052.2(UNC45B):c.2255G>A (p.Arg752Gln)	Pathogenic
996756	NM_001267052.2(UNC45B):c.1540T>C (p.Cys514Arg)	Pathogenic
3731549	NM_001267052.2(UNC45B):c.1486G>T (p.Asp496Tyr)	Likely pathogenic
996754	NM_001267052.2(UNC45B):c.2326C>T (p.Arg776Trp)	Likely pathogenic
996755	NM_001267052.2(UNC45B):c.2255+5G>C	Likely pathogenic

SpliceAI

2550 predictions. Top by Δscore:

Variant	Effect	Δscore
17:35147911:G:GG	donor_gain	1.0000
17:35148375:G:GT	donor_gain	1.0000
17:35148404:G:GT	donor_gain	1.0000
17:35150042:C:CA	acceptor_gain	1.0000
17:35150044:ATAGC:A	acceptor_loss	1.0000
17:35150046:A:AG	acceptor_gain	1.0000
17:35150047:G:GT	acceptor_gain	1.0000
17:35150047:GC:G	acceptor_gain	1.0000
17:35150047:GCC:G	acceptor_gain	1.0000
17:35150047:GCCA:G	acceptor_gain	1.0000
17:35150047:GCCAT:G	acceptor_gain	1.0000
17:35150219:AGAAG:A	donor_gain	1.0000
17:35150220:GAAG:G	donor_gain	1.0000
17:35150220:GAAGG:G	donor_gain	1.0000
17:35150222:AG:A	donor_gain	1.0000
17:35150222:AGGTG:A	donor_loss	1.0000
17:35150223:GG:G	donor_gain	1.0000
17:35150223:GGTG:G	donor_loss	1.0000
17:35150224:G:C	donor_loss	1.0000
17:35150224:G:GG	donor_gain	1.0000
17:35152980:AAGG:A	donor_loss	1.0000
17:35152981:AGG:A	donor_loss	1.0000
17:35152982:GGTG:G	donor_loss	1.0000
17:35152983:GT:G	donor_loss	1.0000
17:35154569:TTCAG:T	acceptor_loss	1.0000
17:35154572:A:AG	acceptor_gain	1.0000
17:35154573:G:GG	acceptor_gain	1.0000
17:35154737:CCAGA:C	donor_gain	1.0000
17:35154738:CAGA:C	donor_gain	1.0000
17:35154739:AGA:A	donor_gain	1.0000

AlphaMissense

6075 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
17:35168231:C:A	A441D	0.999
17:35168239:G:C	A444P	0.999
17:35168243:T:C	L445P	0.999
17:35168357:T:C	L483P	0.999
17:35169837:G:A	G485R	0.999
17:35169837:G:C	G485R	0.999
17:35169841:T:C	L486P	0.999
17:35169845:T:G	C487W	0.999
17:35169848:G:C	K488N	0.999
17:35169848:G:T	K488N	0.999
17:35170154:T:A	W530R	0.999
17:35170154:T:C	W530R	0.999
17:35170166:G:C	G534R	0.999
17:35170179:T:C	L538P	0.999
17:35170201:G:C	K545N	0.999
17:35170201:G:T	K545N	0.999
17:35180639:C:A	A781D	0.999
17:35154587:T:C	L162P	0.998
17:35168147:G:A	G413D	0.998
17:35168251:G:C	A448P	0.998
17:35168252:C:A	A448D	0.998
17:35168306:T:C	L466P	0.998
17:35169838:G:A	G485E	0.998
17:35169843:T:C	C487R	0.998
17:35169844:G:A	C487Y	0.998
17:35169850:T:C	L489P	0.998
17:35169913:T:C	L510P	0.998
17:35169915:G:C	A511P	0.998
17:35169928:G:C	R515P	0.998
17:35170115:T:A	W517R	0.998

dbSNP variants (sampled 300 via entrez): RS1000047819 (17:35169732 A>C,T), RS1000126749 (17:35163766 A>G), RS1000192905 (17:35164972 G>A), RS1000203095 (17:35180312 G>A), RS1000241827 (17:35157817 A>T), RS1000311654 (17:35186273 T>A,C), RS1000317275 (17:35174682 C>T), RS1000410984 (17:35155751 G>A), RS1000486545 (17:35180603 A>G), RS1000547019 (17:35178920 C>A,T), RS1000557063 (17:35174631 G>A), RS1000788137 (17:35169203 C>G,T), RS1000903419 (17:35157912 G>C), RS1000970017 (17:35146465 G>A), RS1001045060 (17:35184778 C>A,T)

Disease associations

OMIM: gene MIM:611220 | disease phenotypes: MIM:616279, MIM:619178, MIM:115200

GenCC curated gene-disease

Disease	Classification	Inheritance
myofibrillar myopathy 11	Strong	Autosomal recessive
cataract 43	Strong	Autosomal dominant
early-onset posterior subcapsular cataract	Supportive	Autosomal dominant
early-onset nuclear cataract	Supportive	Autosomal dominant

Mondo (6): cataract 43 (MONDO:0014565), myofibrillar myopathy 11 (MONDO:0030927), dilated cardiomyopathy 1A (MONDO:0007269), myopathy (MONDO:0005336), early-onset posterior subcapsular cataract (MONDO:0018610), early-onset nuclear cataract (MONDO:0020376)

Orphanet (2): Early onset non-syndromic cataract (Orphanet:91492), Familial dilated cardiomyopathy with conduction defect due to LMNA mutation (Orphanet:300751)

HPO phenotypes

25 total (25 of 25 shown, HPO-id order):

HPO	Term
HP:0000006	Autosomal dominant inheritance
HP:0001558	Decreased fetal movement
HP:0001611	Hypernasal speech
HP:0001680	Coarctation of aorta
HP:0002015	Dysphagia
HP:0003327	Axial muscle weakness
HP:0003391	Gowers sign
HP:0003458	EMG: myopathic abnormalities
HP:0003557	Increased variability in muscle fiber diameter
HP:0003577	Congenital onset
HP:0003593	Infantile onset
HP:0003687	Centrally nucleated skeletal muscle fibers
HP:0003700	Generalized amyotrophy
HP:0003701	Proximal muscle weakness
HP:0003724	Shoulder girdle muscle atrophy
HP:0003803	Type 1 muscle fiber predominance
HP:0007787	Posterior subcapsular cataract
HP:0008872	Feeding difficulties in infancy
HP:0008981	Calf muscle hypertrophy
HP:0011463	Childhood onset
HP:0012378	Fatigue
HP:0020203	Z-band streaming
HP:0025502	Overweight
HP:0032341	Reduced forced vital capacity
HP:0034635	Muscle fiber granulofilamentous inclusion bodies

GWAS associations

1 associations (top):

Study	Trait	p-value
GCST006493_6	Systemic sclerosis	4.000000e-06

MeSH disease descriptors (1)

Descriptor	Name	Tree numbers
C563333	Cataract, Age-Related Nuclear (supp.)

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

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

CTD chemical–gene interactions

15 total (human), top 15 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
triphenyl phosphate	affects expression	1
bisphenol A	increases expression	1
aflatoxin B2	increases methylation	1
CGP 52608	affects binding, increases reaction	1
incobotulinumtoxinA	decreases expression	1
Acetaminophen	decreases expression	1
Benzo(a)pyrene	affects methylation, increases methylation	1
Benztropine	affects cotreatment, decreases expression	1
Clozapine	increases expression	1
Cuprizone	decreases expression, affects cotreatment	1
Doxorubicin	increases expression	1
Triclosan	decreases expression	1
Cyclosporine	decreases methylation	1
Aflatoxin B1	increases expression	1
Asbestos, Serpentine	decreases methylation	1

Clinical trials (associated diseases)

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

Trial	Phase	Status	Title
NCT00120055	PHASE4	COMPLETED	Association Between Systemic Exposure of Atorvastatin and Metabolites and Atorvastatin-induced Myotoxicity
NCT03633565	PHASE4	UNKNOWN	Comparative Study of Strategies for Management of Duchenne Myopathy (DM)
NCT01225614	PHASE3	UNKNOWN	Efficacy and Tolerance of Early Launching of Nocturnal Non Invasive
NCT00278564	PHASE1	TERMINATED	Stem Cell Transplantation in Idiopathic Inflammatory Myopathy Diseases
NCT05394506	Not specified	RECRUITING	Modifying Factors in Striated Muscle Laminopathies
NCT01642056	PHASE1/PHASE2	COMPLETED	EPI-743 for Metabolism or Mitochondrial Disorders
NCT02124070	PHASE1/PHASE2	WITHDRAWN	Therapeutic Effect of Recombinant Human Growth Hormone (rhGH) on the Myopathy of Cystinosis
NCT00549029	Not specified	UNKNOWN	The Association of Genetic Polymorphisms With Statin-Induced Myopathy.
NCT00767130	Not specified	UNKNOWN	DNA Diagnostic System for Statin Safety and Efficacy
NCT00922428	Not specified	COMPLETED	PASCOE-Agil HOM-Injektopas in the Treatment of Rheumatic Disorders
NCT00937001	Not specified	ACTIVE_NOT_RECRUITING	Critical Illness Myopathy as a Cause of Debilitating ICU-Acquired Weakness
NCT00990834	Not specified	WITHDRAWN	Muscle Characteristics Associated With Statin Therapy
NCT01022450	Not specified	UNKNOWN	Study of the Causes of the Breakdown of Muscle Fibers in Hospitalized Patients
NCT01040650	Not specified	TERMINATED	Metabolic Features of Post-Myopathy Patients Associated With Statin Treatment
NCT01047163	Not specified	COMPLETED	Maintenance of Muscle Mass in Older People: the Negative Impact of Statin Therapy
NCT01270269	Not specified	COMPLETED	ACT-ICU Study: Activity and Cognitive Therapy in the Intensive Care Unit
NCT01353430	Not specified	RECRUITING	Characterization of Inclusion Body Myopathy Associated With Paget’s Disease of Bone and Frontotemporal Dementia (IBMPFD)
NCT01395563	Not specified	WITHDRAWN	Strength Training on Pancreatic Cancer
NCT01530841	Not specified	COMPLETED	Efficacy and Tolerance of AVAPS Mode in Myotonic Dystrophy
NCT01547767	Not specified	COMPLETED	Investigations Into ISCU Myopathy or Iron Sulfur Scaffold U Protein Myopathy
NCT01702987	Not specified	COMPLETED	Evaluation of Ubiquinol on Mitochondrial Oxidative Capacity in Statin Patients Using 31PMRS
NCT01790178	Not specified	COMPLETED	Ultrasound in Muscle Biopsy
NCT02011282	Not specified	COMPLETED	Electro-Neuro-Muscular Stimulation in ICU
NCT02104921	Not specified	COMPLETED	Innovative Ultrasound Technology in Neuromuscular Disease
NCT02118805	Not specified	COMPLETED	Innovative Measures of Speech and Swallowing Dysfunction in Neurological Disorders
NCT02235220	Not specified	UNKNOWN	Reduction of Masticatory Muscle Activity by Restoring Canine Guidance
NCT02247895	Not specified	TERMINATED	Treatment of Muscle Weakness in Critically Ill Patients
NCT02315339	Not specified	TERMINATED	European Home Mechanical Ventilation Registry
NCT02442986	Not specified	COMPLETED	Neurological Outcome in Surgical and Non-surgical Septic Patients
NCT02706314	Not specified	COMPLETED	Impact of Human Blood Serum From Critically Ill Patients on Human Colon Neuronal Networks.
NCT02765828	Not specified	COMPLETED	Identification of Tongue Involvement in Late-Onset Pompe Disease
NCT03042286	Not specified	UNKNOWN	SAPhIRE Statin Adverse Drug Reaction
NCT03141749	Not specified	COMPLETED	Venous Thromboembolism in DM1
NCT03660969	Not specified	ACTIVE_NOT_RECRUITING	Reliability of Cardiac Troponins for the Diagnosis of Myocardial Infarction in the Presence of Skeletal Muscle Disease
NCT03749538	Not specified	RECRUITING	Acute Transcranial Direct Current Stimulation in Patients With Systemic Autoimmune Myopathies
NCT03751644	Not specified	COMPLETED	Peripherical Neuromuscular Electrical Stimulation in Systemic Autoimmune Myopathies
NCT03998540	Not specified	UNKNOWN	Improvement of DIAgnostic and Phenotype-genotype Correlation Studies in Patients With MYOpathy Suspected of TITinopathy
NCT04678635	Not specified	RECRUITING	Chronic Transcranial Direct Current Stimulation in Patients With Systemic Autoimmune Myopathies
NCT04881214	Not specified	UNKNOWN	COVID-19 Pneumonia: Pulmonary Physiology, Health-related Quality of Life and Benefit of a Rehabilitation Program
NCT04941079	Not specified	UNKNOWN	Safety and Efficacy of Inactivated SARS-CoV-2 Vaccine in Immune-related Myopathy (Myasthenia Gravis and Inflammatory Myopathy) Patients ：a Prospective Observational Study