STAC3

Summary

STAC3 (SH3 and cysteine rich domain 3, HGNC:28423) is a protein-coding gene on chromosome 12q13.3, encoding SH3 and cysteine-rich domain-containing protein 3 (Q96MF2). Required for normal excitation-contraction coupling in skeletal muscle and for normal muscle contraction in response to membrane depolarization.

The protein encoded by this gene is a component of the excitation-contraction coupling machinery of muscles. This protein is a member of the Stac gene family and contains an N-terminal cysteine-rich domain and two SH3 domains. Mutations in this gene are a cause of Native American myopathy.

Source: NCBI Gene 246329 — RefSeq curated summary.

At a glance

• Gene–disease (curated): Bailey-Bloch congenital myopathy (Definitive, ClinGen)
• GWAS associations: 4
• Clinical variants (ClinVar): 306 total — 9 pathogenic, 3 likely-pathogenic
• Phenotypes (HPO): 61
• MANE Select transcript: NM_145064

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:28423
Approved symbol	STAC3
Name	SH3 and cysteine rich domain 3
Location	12q13.3
Locus type	gene with protein product
Status	Approved
Aliases	MGC2793
Ensembl gene	ENSG00000185482
Ensembl biotype	protein_coding
OMIM	615521
Entrez	246329

Gene structure

Transcript identifiers

Ensembl transcripts: 8 — 5 protein_coding, 2 retained_intron, 1 nonsense_mediated_decay

ENST00000332782, ENST00000546246, ENST00000553294, ENST00000553489, ENST00000554003, ENST00000554578, ENST00000557176, ENST00000967225

RefSeq mRNA: 3 — MANE Select: NM_145064 NM_001286256, NM_001286257, NM_145064

CCDS: CCDS66405, CCDS66406, CCDS8936

Canonical transcript exons

ENST00000332782 — 12 exons

Exon	Start	End
ENSE00001320407	57248706	57248803
ENSE00003464040	57249571	57249637
ENSE00003482646	57244916	57244965
ENSE00003500948	57244088	57244225
ENSE00003535022	57246804	57246901
ENSE00003573686	57244537	57244622
ENSE00003587228	57245145	57245211
ENSE00003619781	57244315	57244366
ENSE00003639850	57250993	57251187
ENSE00003662603	57249041	57249308
ENSE00003790789	57248126	57248198
ENSE00003845489	57243458	57243910

Expression profiles

Bgee: expression breadth ubiquitous, 177 present calls, max score 99.64.

FANTOM5 (CAGE): breadth tissue_specific, TPM avg 6.9573 / max 1380.3579, expressed in 114 samples.

FANTOM5 promoters (2 alternative TSS)

Promoter ID	TPM avg	Samples expressed
131661	5.7472	111
131660	1.2101	80

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
gastrocnemius	UBERON:0001388	99.64	gold quality
hindlimb stylopod muscle	UBERON:0004252	99.45	gold quality
muscle of leg	UBERON:0001383	98.50	gold quality
skeletal muscle tissue of rectus abdominis	UBERON:0004511	98.12	gold quality
skeletal muscle tissue	UBERON:0001134	97.48	gold quality
vastus lateralis	UBERON:0001379	97.39	gold quality
quadriceps femoris	UBERON:0001377	97.04	gold quality
skeletal muscle tissue of biceps brachii	UBERON:0004502	96.93	gold quality
biceps brachii	UBERON:0001507	96.56	gold quality
tibialis anterior	UBERON:0001385	94.93	gold quality
body of tongue	UBERON:0011876	93.80	gold quality
deltoid	UBERON:0001476	92.92	gold quality
monocyte	CL:0000576	92.29	gold quality
muscle tissue	UBERON:0002385	92.15	gold quality
leukocyte	CL:0000738	91.84	gold quality
granulocyte	CL:0000094	90.23	gold quality
tongue	UBERON:0001723	88.82	gold quality
left testis	UBERON:0004533	85.45	gold quality
right testis	UBERON:0004534	85.35	gold quality
right lobe of liver	UBERON:0001114	82.61	gold quality
testis	UBERON:0000473	82.30	gold quality
superior surface of tongue	UBERON:0007371	82.18	gold quality
spleen	UBERON:0002106	81.11	gold quality
sural nerve	UBERON:0015488	81.11	gold quality
primordial germ cell in gonad	CL:0000670 ∩ UBERON:0000991	80.80	gold quality
right hemisphere of cerebellum	UBERON:0014890	80.14	gold quality
cerebellar hemisphere	UBERON:0002245	80.07	gold quality
cerebellar cortex	UBERON:0002129	79.86	gold quality
pharyngeal mucosa	UBERON:0000355	79.66	gold quality
minor salivary gland	UBERON:0001830	79.33	gold quality

Single-cell (SCXA)

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

Experiment	Marker?	Max mean expression
E-ANND-3	no	2.69

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

7 targeting STAC3, 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-4267	99.96	66.53	2368
HSA-MIR-561-3P	99.64	70.90	3647
HSA-MIR-4263	99.18	69.25	2236
HSA-MIR-6730-5P	98.03	68.12	1299
HSA-MIR-2861	95.24	65.47	1056
HSA-MIR-7108-3P	94.37	64.79	183
HSA-MIR-10A-3P	93.57	64.43	451

Literature-anchored findings (GeneRIF, showing 9)

• A mutation in human STAC3 is the genetic basis of the debilitating Native American myopathy. (PMID:23736855)
• STAC3 mutation is associated with overlapping features of Carey-Fineman-Ziter syndrome and Moebius syndrome. (PMID:28777491)
• Study reports patients with congenital myopathy carrying either a homozygous, heterozygous p.(Trp284Ser) STAC3 variant or a novel splice site change (c.997-1G > T). The patients have distinctive dysmorphic features in addition to a malignant hyperthermia-like in some. These variants showed a defective excitation-contraction which is not a result of CaV 1.1 sarcolemma mislocation or impaired interaction with CaV 1.1. (PMID:30168660)
• recent identification of the adaptor protein STAC3 as fourth essential component of skeletal muscle EC coupling prompted vigorous research to reveal its role in this signaling process. (PMID:30543836)
• Bayesian statistics predicted CACNA1S variant p.Thr1009Lys and RYR1 variants p.Ser1728Phe and p.Leu4824Pro are likely pathogenic, and novel STAC3 variant p.Met187Thr has uncertain significance. Nearly a third of MHS subjects had only benign variants. Bayesian method provides new approach to predict MH pathogenicity of genetic variants (PMID:31559918)
• Unexpected discoveries in the case reported here in a Kuwaiti family, via Next Generation Sequencing, identifying the STAC3 mutation as the underlying cause of a Native American Myopathy phenotype. (PMID:31859625)
• Multiple Sequence Variants in STAC3 Affect Interactions with CaV1.1 and Excitation-Contraction Coupling. (PMID:32492370)
• Testicular STAC3 regulates Leydig cell steroidogenesis through potentiating mitochondrial membrane potential and StAR processing. (PMID:33409656)
• STAC3 related congenital myopathy: A case series of seven Comorian patients. (PMID:36030003)

Cross-species orthologs

3 orthologs

Organism	Symbol	Gene ID
danio_rerio	stac3	ENSDARG00000098883
mus_musculus	Stac3	ENSMUSG00000040287
rattus_norvegicus	Stac3	ENSRNOG00000008050

Paralogs (2): STAC2 (ENSG00000141750), STAC (ENSG00000144681)

Protein

Protein identifiers

SH3 and cysteine-rich domain-containing protein 3 — Q96MF2 (reviewed: Q96MF2)

All UniProt accessions (3): Q96MF2, G3V2L9, G3V5D4

UniProt curated annotations — full annotation on UniProt →

Function. Required for normal excitation-contraction coupling in skeletal muscle and for normal muscle contraction in response to membrane depolarization. Required for normal Ca(2+) release from the sarcplasmic reticulum, which ultimately leads to muscle contraction. Probably functions via its effects on muscle calcium channels. Increases CACNA1S channel activity, in addition to its role in enhancing the expression of CACNA1S at the cell membrane. Has a redundant role in promoting the expression of the calcium channel CACNA1S at the cell membrane. Slows down the inactivation rate of the calcium channel CACNA1C.

Subunit / interactions. Interacts (via SH3 domains) with the calcium channels CACNA1S and CACNA1C. Component of a calcium channel complex with CACNA1S and CACNB1. Component of a calcium channel complex with CACNA1C and CACNB1.

Subcellular location. Cytoplasm. Cell membrane. Sarcolemma. T-tubule.

Disease relevance. Congenital myopathy 13 (CMYO13) [MIM:255995] An autosomal recessive disease characterized by congenital weakness and arthrogryposis, cleft palate, ptosis, short stature, kyphoscoliosis, talipes deformities, and susceptibility to malignant hyperthermia provoked by anesthesia. The disease is caused by variants affecting the gene represented in this entry.

Isoforms (3)

UniProt ID	Names	Canonical?
Q96MF2-1	1	yes
Q96MF2-2	2
Q96MF2-3	3

RefSeq proteins (3): NP_001273185, NP_001273186, NP_659501* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR001452	SH3_domain	Domain
IPR002219	PKC_DAG/PE	Domain
IPR035736	Stac3_SH3_1	Domain
IPR036028	SH3-like_dom_sf	Homologous_superfamily
IPR039688	STAC1/2/3	Family
IPR046349	C1-like_sf	Homologous_superfamily

Pfam: PF00018, PF00130, PF07653, PF16664

UniProt features (33 total): strand 16, helix 5, domain 2, region of interest 2, compositionally biased region 2, splice variant 2, chain 1, sequence variant 1, turn 1, zinc finger region 1

Structure

Experimental structures (PDB)

5 structures.

PDB	Method	Resolution (Å)
6B29	X-RAY DIFFRACTION	1.3
6UY9	X-RAY DIFFRACTION	1.6
6UY8	X-RAY DIFFRACTION	1.65
6UY7	X-RAY DIFFRACTION	2.1
2DB6	SOLUTION NMR

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q96MF2-F1	70.06	0.34

Function

Pathways and Gene Ontology

Reactome pathways

0 pathways

MSigDB gene sets: 207 (showing top): GOBP_MUSCLE_TISSUE_DEVELOPMENT, GOBP_POSITIVE_REGULATION_OF_CATION_CHANNEL_ACTIVITY, GOBP_POSITIVE_REGULATION_OF_TRANSPORTER_ACTIVITY, GOBP_POSITIVE_REGULATION_OF_PROTEIN_LOCALIZATION, GOBP_STRIATED_MUSCLE_CELL_DIFFERENTIATION, GOBP_REGULATION_OF_VOLTAGE_GATED_CALCIUM_CHANNEL_ACTIVITY, GOBP_MULTICELLULAR_ORGANISMAL_MOVEMENT, AAAYRNCTG_UNKNOWN, GOBP_SKELETAL_MUSCLE_CONTRACTION, CAGCTG_AP4_Q5, GOBP_PROTEIN_LOCALIZATION_TO_CELL_PERIPHERY, GOBP_POSITIVE_REGULATION_OF_TRANSMEMBRANE_TRANSPORT, GOBP_MONOATOMIC_CATION_TRANSPORT, GOBP_CELL_CELL_SIGNALING, GOBP_POSITIVE_REGULATION_OF_PROTEIN_LOCALIZATION_TO_CELL_PERIPHERY

GO Biological Process (5): skeletal muscle contraction (GO:0003009), neuromuscular synaptic transmission (GO:0007274), skeletal muscle fiber development (GO:0048741), positive regulation of voltage-gated calcium channel activity (GO:1901387), positive regulation of protein localization to plasma membrane (GO:1903078)

GO Molecular Function (4): zinc ion binding (GO:0008270), identical protein binding (GO:0042802), protein binding (GO:0005515), metal ion binding (GO:0046872)

GO Cellular Component (10): nucleoplasm (GO:0005654), cytosol (GO:0005829), voltage-gated calcium channel complex (GO:0005891), cytoplasmic side of plasma membrane (GO:0009898), T-tubule (GO:0030315), synapse (GO:0045202), cytoplasm (GO:0005737), plasma membrane (GO:0005886), membrane (GO:0016020), sarcolemma (GO:0042383)

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
cellular anatomical structure	5
plasma membrane	2
striated muscle contraction	1
musculoskeletal movement	1
chemical synaptic transmission	1
skeletal muscle tissue development	1
myotube cell development	1
voltage-gated calcium channel activity	1
regulation of voltage-gated calcium channel activity	1
positive regulation of cation channel activity	1
protein localization to plasma membrane	1
regulation of protein localization to plasma membrane	1
positive regulation of protein localization to cell periphery	1
positive regulation of protein localization to membrane	1
transition metal ion binding	1
protein binding	1
binding	1
cation binding	1
nuclear lumen	1
cytoplasm	1
calcium channel complex	1
plasma membrane protein complex	1
cytoplasmic side of membrane	1
sarcolemma	1
cell junction	1
intracellular anatomical structure	1
membrane	1
cell periphery	1

Protein interactions and networks

STRING

878 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
STAC3	CACNA1S	Q13698	898
STAC3	RYR1	P21817	854
STAC3	TRDN	Q13061	655
STAC3	ASPH	Q12797	641
STAC3	CASQ1	P31415	623
STAC3	JSRP1	Q96MG2	609
STAC3	JPH1	Q9HDC5	587
STAC3	CACNA1A	P78510	575
STAC3	FKBP1A	P20071	572
STAC3	JPH2	Q9BR39	561
STAC3	JPH4	Q96JJ6	494
STAC3	CACNA1C	Q13936	485
STAC3	MYO18B	Q8IUG5	448
STAC3	JPH3	Q8WXH2	446
STAC3	SCN4A	P35499	444

IntAct

181 interactions, top by confidence:

A	B	Type	Score
CSNK2A1	STAC3	psi-mi:“MI:0915”(physical association)	0.780
STAC3	MAB21L3	psi-mi:“MI:0915”(physical association)	0.780
STAC3	ZCCHC10	psi-mi:“MI:0915”(physical association)	0.780
STAC3	CSNK2A1	psi-mi:“MI:0915”(physical association)	0.780
MAB21L3	STAC3	psi-mi:“MI:0915”(physical association)	0.780
ZCCHC10	STAC3	psi-mi:“MI:0915”(physical association)	0.780
STAC3	STAC3	psi-mi:“MI:0915”(physical association)	0.770
STAC3	NKAPD1	psi-mi:“MI:0915”(physical association)	0.720
FAM90A1	STAC3	psi-mi:“MI:0915”(physical association)	0.720
FAM133A	STAC3	psi-mi:“MI:0915”(physical association)	0.720
SREK1IP1	STAC3	psi-mi:“MI:0915”(physical association)	0.720
STAC3	L3MBTL2	psi-mi:“MI:0915”(physical association)	0.720
NKAPD1	STAC3	psi-mi:“MI:0915”(physical association)	0.720
STAC3	FAM133A	psi-mi:“MI:0915”(physical association)	0.720

BioGRID (69): STAC3 (Two-hybrid), STAC3 (Two-hybrid), STAC3 (Two-hybrid), STAC3 (Two-hybrid), STAC3 (Two-hybrid), STAC3 (Two-hybrid), STAC3 (Two-hybrid), STAC3 (Two-hybrid), STAC3 (Two-hybrid), STAC3 (Two-hybrid), STAC3 (Two-hybrid), SREK1IP1 (Two-hybrid), FAM133A (Two-hybrid), GTF2F1 (Affinity Capture-MS), ANKLE2 (Affinity Capture-MS)

ESM2 similar proteins: A0JNJ1, A5PMU4, A6QQV9, A7E3S4, D4AB98, F7EL49, P15056, P34908, P59672, P97306, Q04982, Q13905, Q15678, Q16825, Q5F488, Q5TCQ9, Q5TCZ1, Q62130, Q62136, Q62728, Q6DD51, Q6H8Q1, Q6KC51, Q6P9K8, Q6ZMT1, Q80T23, Q80YS6, Q812E4, Q8BL65, Q8BN59, Q8BZ71, Q8BZI0, Q8N556, Q8R1B0, Q8TDW5, Q8TED9, Q8TEW8, Q8VH46, Q8VHK2, Q8WXD9

Diamond homologs: A0JNJ1, A1CEK6, A1DFN5, A2QW93, A4RF61, A6QLK6, A7A261, F1LRS8, O35179, O35964, O43307, O74749, O75791, O75886, O88811, O89100, O93436, P02549, P07751, P09215, P09216, P10830, P13395, P16054, P16086, P16546, P23298, P24723, P28867, P29355, P32793, P34885, P38753, P43603, P53281, P62993, P62994, P70297, P87379, P97306

SIGNOR signaling

0 interactions.

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	9
Likely pathogenic	3
Uncertain significance	134
Likely benign	125
Benign	15

Top pathogenic / likely-pathogenic (12)

Variant ID	HGVS	Classification
1073206	NM_145064.3(STAC3):c.694del (p.Ala232fs)	Pathogenic
2742179	NM_145064.3(STAC3):c.297_301del (p.Pro100fs)	Pathogenic
2959864	NM_145064.3(STAC3):c.468_469del (p.Tyr157fs)	Pathogenic
3244314	NC_000012.11:g.(?57641889)(57642001_?)del	Pathogenic
465659	NM_145064.3(STAC3):c.383_399del (p.His128fs)	Pathogenic
559850	NM_145064.3(STAC3):c.763_766del (p.Leu255fs)	Pathogenic
577652	NM_145064.3(STAC3):c.739C>T (p.Gln247Ter)	Pathogenic
691283	NM_145064.3(STAC3):c.997-1G>T	Pathogenic
915340	NM_145064.3(STAC3):c.82C>T (p.Gln28Ter)	Pathogenic
1339522	NM_145064.3(STAC3):c.432+1G>A	Likely pathogenic
2074431	NM_145064.3(STAC3):c.670+2T>A	Likely pathogenic
3075953	NM_145064.3(STAC3):c.88_91del (p.Leu30fs)	Likely pathogenic

SpliceAI

1385 predictions. Top by Δscore:

Variant	Effect	Δscore
12:57243907:CGAT:C	acceptor_gain	1.0000
12:57243911:C:CC	acceptor_gain	1.0000
12:57244082:GCCTA:G	donor_loss	1.0000
12:57244083:CCTAC:C	donor_loss	1.0000
12:57244084:CTACC:C	donor_loss	1.0000
12:57244085:TA:T	donor_loss	1.0000
12:57244086:A:AC	donor_gain	1.0000
12:57244087:C:CC	donor_gain	1.0000
12:57244221:TTCCC:T	acceptor_gain	1.0000
12:57244222:TCCC:T	acceptor_gain	1.0000
12:57244223:CCC:C	acceptor_gain	1.0000
12:57244223:CCCC:C	acceptor_gain	1.0000
12:57244224:CC:C	acceptor_gain	1.0000
12:57244224:CCC:C	acceptor_gain	1.0000
12:57244225:CC:C	acceptor_gain	1.0000
12:57244225:CCTAG:C	acceptor_loss	1.0000
12:57244226:C:CC	acceptor_gain	1.0000
12:57244226:C:T	acceptor_gain	1.0000
12:57244226:CTAGG:C	acceptor_loss	1.0000
12:57244227:T:C	acceptor_loss	1.0000
12:57244235:A:AC	acceptor_gain	1.0000
12:57244235:A:C	acceptor_gain	1.0000
12:57244238:G:C	acceptor_gain	1.0000
12:57244910:TCTTA:T	donor_loss	1.0000
12:57244911:CTTAC:C	donor_loss	1.0000
12:57244912:TTAC:T	donor_loss	1.0000
12:57244913:TAC:T	donor_loss	1.0000
12:57244914:A:AC	donor_gain	1.0000
12:57244914:ACCTT:A	donor_loss	1.0000
12:57244915:C:CA	donor_loss	1.0000

AlphaMissense

2418 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
12:57244203:C:T	G294E	1.000
12:57244224:C:T	G287E	1.000
12:57244225:C:A	G287W	1.000
12:57244321:C:A	W284C	1.000
12:57244321:C:G	W284C	1.000
12:57244323:A:G	W284R	1.000
12:57244323:A:T	W284R	1.000
12:57244546:A:G	L266P	1.000
12:57244569:G:C	F258L	1.000
12:57244569:G:T	F258L	1.000
12:57244571:A:G	F258L	1.000
12:57248780:A:G	C120R	1.000
12:57249067:C:T	C103Y	1.000
12:57249068:A:G	C103R	1.000
12:57243846:C:T	G354E	0.999
12:57243867:A:T	V347D	0.999
12:57243906:A:T	V334E	0.999
12:57244101:A:G	L328P	0.999
12:57244101:A:T	L328H	0.999
12:57244128:C:A	G319V	0.999
12:57244128:C:T	G319E	0.999
12:57244129:C:A	G319W	0.999
12:57244129:C:G	G319R	0.999
12:57244129:C:T	G319R	0.999
12:57244173:A:T	V304D	0.999
12:57244203:C:A	G294V	0.999
12:57244204:C:G	G294R	0.999
12:57244204:C:T	G294R	0.999
12:57244225:C:G	G287R	0.999
12:57244225:C:T	G287R	0.999

dbSNP variants (sampled 300 via entrez): RS1000157974 (12:57249887 C>G,T), RS1000238530 (12:57251893 C>G,T), RS1001309812 (12:57250979 A>G), RS1001743361 (12:57244041 G>C), RS1002078864 (12:57245649 C>T), RS1002331073 (12:57250200 G>A), RS1002683956 (12:57251506 G>A,T), RS1002772322 (12:57243214 G>A,C,T), RS1003058638 (12:57252039 G>A), RS1003501988 (12:57246965 A>C), RS1003572045 (12:57249316 A>T), RS1003773907 (12:57246521 G>A,C,T), RS1003856621 (12:57243251 G>C), RS1003895747 (12:57249021 C>T), RS1004041022 (12:57252238 C>T)

Disease associations

OMIM: gene MIM:615521 | disease phenotypes: MIM:255995, MIM:117000

GenCC curated gene-disease

Disease	Classification	Inheritance
Bailey-Bloch congenital myopathy	Definitive	Autosomal recessive

ClinGen Gene-Disease Validity (1)

Expert-panel classifications — Definitive > Strong > Moderate > Limited > Disputed > Refuted.

Disease	Classification	Inheritance
Bailey-Bloch congenital myopathy	Definitive	AR

Mondo (2): Bailey-Bloch congenital myopathy (MONDO:0009722), congenital myopathy (MONDO:0019952)

Orphanet (2): Native American myopathy (Orphanet:168572), Congenital myopathy (Orphanet:97245)

HPO phenotypes

61 total (30 of 61 shown, HPO-id order):

HPO	Term
HP:0000007	Autosomal recessive inheritance
HP:0000028	Cryptorchidism
HP:0000175	Cleft palate
HP:0000193	Bifid uvula
HP:0000218	High palate
HP:0000248	Brachycephaly
HP:0000252	Microcephaly
HP:0000329	Facial hemangioma
HP:0000347	Micrognathia
HP:0000369	Low-set ears
HP:0000405	Conductive hearing impairment
HP:0000494	Downslanted palpebral fissures
HP:0000506	Telecanthus
HP:0000508	Ptosis
HP:0000581	Blepharophimosis
HP:0001249	Intellectual disability
HP:0001252	Hypotonia
HP:0001256	Mild intellectual disability
HP:0001260	Dysarthria
HP:0001265	Hyporeflexia
HP:0001270	Motor delay
HP:0001284	Areflexia
HP:0001315	Reduced tendon reflexes
HP:0001324	Muscle weakness
HP:0001371	Flexion contracture
HP:0001382	Joint hypermobility
HP:0001488	Bilateral ptosis
HP:0001762	Talipes equinovarus
HP:0001776	Bilateral talipes equinovarus
HP:0002020	Gastroesophageal reflux

GWAS associations

4 associations (top):

Study	Trait	p-value
GCST002539_15	Schizophrenia	2.000000e-12
GCST004521_233	Autism spectrum disorder or schizophrenia	4.000000e-10
GCST006803_97	Schizophrenia	3.000000e-11
GCST008916_2	Asthma	2.000000e-08

MeSH disease descriptors (1)

Descriptor	Name	Tree numbers
C538343	Native American myopathy (supp.)

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

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

PharmGKB variants

1 variants.

Variant	Genes	Level	Score	#Clin annots	Drugs
rs140291094	STAC3		0.00	0

CTD chemical–gene interactions

13 total (human), top 13 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
triphenyl phosphate	affects expression	1
sodium arsenite	increases expression	1
abrine	decreases expression	1
incobotulinumtoxinA	decreases expression	1
Arsenic	affects methylation	1
Benzo(a)pyrene	decreases expression	1
Dimethyl Sulfoxide	affects expression	1
Endosulfan	increases expression	1
Smoke	decreases expression	1
Tobacco Smoke Pollution	decreases expression	1
Tretinoin	increases expression	1
Valproic Acid	affects expression	1
Okadaic Acid	decreases expression	1

Clinical trials (associated diseases)

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

Trial	Phase	Status	Title
NCT02020187	Not specified	COMPLETED	Aerobic Training in Patients With Congenital Myopathies
NCT03018184	Not specified	COMPLETED	Contractile Cross Sectional Areas and Muscle Strength in Patients With Congenital Myopathies
NCT04733976	Not specified	COMPLETED	Bullying in Youth With Muscular Dystrophy and Congenital Myopathies
NCT05099107	Not specified	COMPLETED	Changes of Motor Function Tests in Congenital Myopathy Subjects Treated With Oral Salbutamol as Compared to no Treatment
NCT05199246	Not specified	COMPLETED	Assessment of Safety and Acute Effects of a Lower-limb Powered Dermoskeleton in Patients With Neuromuscular Disorders
NCT05200702	Not specified	COMPLETED	Assessment of Safety and Acute Effects of a Knee-hip Powered Soft Exoskeleton in Patients With Neuromuscular Disorders
NCT05692349	Not specified	UNKNOWN	Magnetic Resonance Imaging and Ultrasonography in Evaluation of Muscle Diseases
NCT06791369	Not specified	NOT_YET_RECRUITING	The Prevalence of RYR1-related Disease
NCT06833489	Not specified	RECRUITING	Transcriptomic Analysis to Put an End to Misdiagnosis in Patients With Rare Muscle Diseases
NCT07138963	Not specified	RECRUITING	Phenotype - Genotype Correlation in a Sample of Egyptian Patients With Congenital Myopathies and Congenital Muscular Dystrophies
NCT07415837	Not specified	RECRUITING	Evaluation of the Role of miR-1 in the Pathogenesis and as a Biomarker in Muscular Dystrophies and Congenital Myopathies
NCT07502989	Not specified	RECRUITING	Muscle Health Measurements Using Electrical Impedance Myography
NCT07580365	Not specified	NOT_YET_RECRUITING	VirtualPark_Pediatric