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GeneE
10 sources retrieved Β· Most recent: April 2026 Β· Index updated 15 days ago
β“˜GeneE is for informational purposes only. It is not a substitute for professional medical advice, diagnosis, or treatment.
STAC3
SH3 and cysteine rich domain 3
Chromosome 12 Β· 12q13.3
NCBI Gene: 246329Ensembl: ENSG00000185482.9HGNC: HGNC:28423UniProt: Q96MF2
35PubMed Papers
21Diseases
0Drugs
14Pathogenic Variants
CLINICAL
OMIM Disease Gene
DATA QUALITY
βœ“ Experimental GO Evidenceβœ“ Swiss-Prot Reviewed
identical protein bindingskeletal muscle contractionnucleoplasmcytosolBailey-Bloch congenital myopathyNative American myopathygenetic disordercongenital myopathy
✦AI Summary

STAC3 (SH3 and cysteine rich domain 3) is essential for normal skeletal muscle excitation-contraction coupling and calcium homeostasis. The protein functions as a critical regulator of voltage-gated calcium channels, particularly enhancing CACNA1S channel activity and promoting its membrane expression 1. STAC3 is required for normal Ca2+ release from the sarcoplasmic reticulum in response to membrane depolarization, which is fundamental for muscle contraction 2. Mechanistically, STAC3 interacts with the carboxy terminus of CaV1.1 channels through duplex signaling mechanisms involving both channel trafficking and gating modulation 1. The protein also slows inactivation rates of CACNA1C calcium channels. Mutations in STAC3 cause congenital myopathy 13, originally described as Native American myopathy, characterized by muscle weakness, contractures, and dysmorphisms 3 4. Additionally, STAC3 variants are associated with malignant hyperthermia susceptibility, a potentially fatal pharmacogenetic reaction to anesthetic agents 5 3. Conditional knockout studies demonstrate that STAC3 is crucial for postnatal muscle growth, fiber composition, and electrostimulation-induced calcium release, with deficiency leading to reduced muscle mass and strength 2. These findings establish STAC3 as a fundamental regulator of skeletal muscle calcium signaling and contractile function.

Sources cited
1
STAC3 enhances CACNA1S channel activity and membrane expression through duplex signaling mechanisms
PMID: 29950399
2
STAC3 is required for Ca2+ release from sarcoplasmic reticulum and is important for muscle growth and fiber composition
PMID: 27073615
3
STAC3 mutations cause congenital myopathy (Native American myopathy) and malignant hyperthermia susceptibility
PMID: 40262809
4
STAC3 variants are associated with malignant hyperthermia susceptibility in genetic epidemiology studies
PMID: 30236257
5
STAC3 variants cause arthrogryposis and congenital myopathy with expanding phenotypic spectrum
PMID: 33060286
Disease Associationsβ“˜21
Bailey-Bloch congenital myopathyOpen Targets
0.79Strong
Native American myopathyOpen Targets
0.79Strong
genetic disorderOpen Targets
0.41Moderate
congenital myopathyOpen Targets
0.27Weak
metabolic syndromeOpen Targets
0.08Suggestive
Distal myopathy, Nonaka typeOpen Targets
0.06Suggestive
myopathy, distal, 5Open Targets
0.05Suggestive
Proximal spinal muscular atrophy type 4Open Targets
0.05Suggestive
spinal muscular atrophy, type IVOpen Targets
0.05Suggestive
GNE myopathyOpen Targets
0.05Suggestive
autosomal recessive limb-girdle muscular dystrophy type 2LOpen Targets
0.05Suggestive
inclusion body myopathy and brain white matter abnormalitiesOpen Targets
0.05Suggestive
Bethlem myopathy 1BOpen Targets
0.05Suggestive
Congenital myasthenic syndromesOpen Targets
0.05Suggestive
Scapuloperoneal amyotrophyOpen Targets
0.05Suggestive
tibial muscular dystrophyOpen Targets
0.05Suggestive
myofibrillar myopathy 3Open Targets
0.05Suggestive
myopathy, centronuclear, 6, with fiber-type disproportionOpen Targets
0.05Suggestive
exercise intolerance, riboflavin-responsiveOpen Targets
0.05Suggestive
central core myopathyOpen Targets
0.05Suggestive
Congenital myopathy 13UniProt
Pathogenic Variants14
NM_145064.3(STAC3):c.862A>T (p.Lys288Ter)Pathogenic
not provided|Bailey-Bloch congenital myopathy|Inborn genetic diseases|Gastric cancer
β˜…β˜…β˜†β˜†2026β†’ Residue 288
NM_145064.3(STAC3):c.851G>C (p.Trp284Ser)Pathogenic
Bailey-Bloch congenital myopathy|not provided|STAC3-related disorder
β˜…β˜…β˜†β˜†2026β†’ Residue 284
NM_145064.3(STAC3):c.816_817del (p.Lys273fs)Pathogenic
Bailey-Bloch congenital myopathy|not provided
β˜…β˜…β˜†β˜†2024β†’ Residue 273
NM_145064.3(STAC3):c.297_301del (p.Pro100fs)Pathogenic
Bailey-Bloch congenital myopathy
β˜…β˜†β˜†β˜†2025β†’ Residue 100
NM_145064.3(STAC3):c.763_766del (p.Leu255fs)Pathogenic
Bailey-Bloch congenital myopathy
β˜…β˜†β˜†β˜†2025β†’ Residue 255
NM_145064.3(STAC3):c.694del (p.Ala232fs)Pathogenic
Bailey-Bloch congenital myopathy
β˜…β˜†β˜†β˜†2024β†’ Residue 232
NM_145064.3(STAC3):c.383_399del (p.His128fs)Pathogenic
Bailey-Bloch congenital myopathy
β˜…β˜†β˜†β˜†2024β†’ Residue 128
NM_145064.3(STAC3):c.739C>T (p.Gln247Ter)Pathogenic
Bailey-Bloch congenital myopathy
β˜…β˜†β˜†β˜†2023β†’ Residue 247
NM_145064.3(STAC3):c.88_91del (p.Leu30fs)Likely pathogenic
Congenital myopathy
β˜…β˜†β˜†β˜†2023β†’ Residue 30
NM_145064.3(STAC3):c.468_469del (p.Tyr157fs)Pathogenic
Bailey-Bloch congenital myopathy
β˜…β˜†β˜†β˜†2023β†’ Residue 157
NM_145064.3(STAC3):c.670+2T>ALikely pathogenic
Bailey-Bloch congenital myopathy
β˜…β˜†β˜†β˜†2022
NM_145064.3(STAC3):c.82C>T (p.Gln28Ter)Pathogenic
not provided
β˜…β˜†β˜†β˜†2020β†’ Residue 28
NM_145064.3(STAC3):c.432+1G>ALikely pathogenic
Bailey-Bloch congenital myopathy
β˜…β˜†β˜†β˜†
NM_145064.3(STAC3):c.997-1G>TPathogenic
Bailey-Bloch congenital myopathy
β˜†β˜†β˜†β˜†2024
View on ClinVar β†—
Related Genes
CACNA1DProtein interaction96%CACNG7Protein interaction94%CACNG8Protein interaction91%CACNA1CProtein interaction91%FKBP1AProtein interaction85%RYR1Protein interaction77%
Tissue Expression6 tissues
Lung
100%
Bone Marrow
80%
Liver
73%
Brain
25%
Ovary
24%
Heart
12%
Gene Interaction Network
Click a node to explore
STAC3CACNA1DCACNG7CACNG8CACNA1CFKBP1ARYR1
PROTEIN STRUCTURE
Preparing viewer…
PDB6B29 Β· 1.30 Γ… Β· X-ray
View on RCSB β†—
Constraintβ“˜
LOEUFβ“˜
0.80LoF Tolerant
pLIβ“˜
0.00Tolerant
Observed/Expected LoF0.59 [0.44–0.80]
RankingsWhere STAC3 stands among ~20K protein-coding genes
  • #11,076of 20,598
    Most Researched35
  • #2,538of 5,498
    Most Pathogenic Variants14
  • #6,600of 17,882
    Most Constrained (LOEUF)0.80
Genes detectedSTAC3
Sources retrieved10 papers
Response timeβ€”
πŸ“„ Sources
10β–Ό
1
Genetic epidemiology of malignant hyperthermia in the UK.
PMID: 30236257
Br J Anaesth Β· 2018
1.00
2
Phenotypic spectrum and genomics of undiagnosed arthrogryposis multiplex congenita.
PMID: 33820833
J Med Genet Β· 2022
0.90
3
A 20-year Clinical and Genetic Neuromuscular Cohort Analysis in Lebanon: An International Effort.
PMID: 34602496
J Neuromuscul Dis Β· 2022
0.80
4
Neurogenetic fetal akinesia and arthrogryposis: genetics, expanding genotype-phenotypes and functional genomics.
PMID: 33060286
J Med Genet Β· 2021
0.70
5
The SH3 and cysteine-rich domain 3 (Stac3) gene is important to growth, fiber composition, and calcium release from the sarcoplasmic reticulum in postnatal skeletal muscle.
PMID: 27073615
Skelet Muscle Β· 2016
0.60