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10 sources retrieved · Most recent: April 2026 · Index updated 15 days ago
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MYBPC2
myosin binding protein C2
Chromosome 19 · 19q13.33
NCBI Gene: 4606Ensembl: ENSG00000086967.11HGNC: HGNC:7550UniProt: A0A140VJQ0
28PubMed Papers
20Diseases
0Drugs
0Pathogenic Variants
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
protein bindingstructural constituent of musclesarcomere organizationM bandliver diseaseneurodegenerative diseaseatrial fibrillationalcohol drinking
✦AI Summary

MYBPC2 (myosin binding protein C2) encodes a fast skeletal muscle-specific regulatory protein that plays a crucial role in muscle structure and contraction. The protein is a thick filament-associated component located in the crossbridge region of striated muscle sarcomeres, where it binds myosin heavy chain, F-actin, and native thin filaments to modulate actin-activated myosin ATPase activity 1. MYBPC2 expression is transcriptionally regulated by the lncFAM-HNRNPL ribonucleoprotein complex, which recruits HNRNPL to the MYBPC2 promoter to enhance myogenesis and muscle differentiation 2. The gene shows altered expression in various pathological conditions. In rhabdomyosarcoma, MYBPC2 is significantly upregulated and associated with worse overall survival outcomes 3. Additionally, MYBPC2 expression changes are observed in cardiac models with RBM20 variants linked to dilated cardiomyopathy risk 45, anthracycline-induced cardiotoxicity 6, photoaged skin 7, and cerebral palsy-related muscle dysfunction 8. These findings suggest MYBPC2 serves as both a structural component essential for proper muscle function and a potential biomarker for various muscle-related pathologies, making it clinically relevant for understanding muscle diseases and their therapeutic targets.

Sources cited
1
MYBPC2 encodes fast skeletal muscle-specific myosin binding protein C and its role in sarcomere structure
PMID: 36854776
2
lncFAM-HNRNPL complex regulates MYBPC2 transcription to promote myogenesis
PMID: 36533518
3
MYBPC2 upregulation in rhabdomyosarcoma associated with poor survival outcomes
PMID: 33499774
4
MYBPC2 expression changes in RBM20 variant mouse model
PMID: 36198914
5
MYBPC2 upregulation in cardiac dysfunction model with RBM20 variant
PMID: 41076636
6
MYBPC2 involvement in anthracycline-induced cardiotoxicity
PMID: 34732131
7
MYBPC2 as critical gene in skin photoaging
PMID: 37454939
8
Altered MYBPC2 expression in adults with cerebral palsy
PMID: 35151178
Disease Associationsⓘ20
liver diseaseOpen Targets
0.30Weak
neurodegenerative diseaseOpen Targets
0.28Weak
atrial fibrillationOpen Targets
0.22Weak
alcohol drinkingOpen Targets
0.17Weak
Flexion contractureOpen Targets
0.16Weak
paramyotonia congenita of Von EulenburgOpen Targets
0.06Suggestive
Congenital myasthenic syndromesOpen Targets
0.06Suggestive
Thomsen and Becker diseaseOpen Targets
0.05Suggestive
Distal myopathy, Nonaka typeOpen Targets
0.05Suggestive
myofibrillar myopathy 3Open Targets
0.05Suggestive
zebra body myopathyOpen Targets
0.05Suggestive
Autosomal dominant limb-girdle muscular dystrophy type 1DOpen Targets
0.05Suggestive
hypertrophic cardiomyopathyOpen Targets
0.05Suggestive
Hereditary proximal myopathy with early respiratory failureOpen Targets
0.05Suggestive
distal myopathyOpen Targets
0.05Suggestive
myopathy, distal, 5Open Targets
0.05Suggestive
GNE myopathyOpen Targets
0.05Suggestive
Alpha-B crystallin-related late-onset distal myopathyOpen Targets
0.05Suggestive
autosomal recessive limb-girdle muscular dystrophy type 2LOpen Targets
0.05Suggestive
congenital myopathy with internal nuclei and atypical coresOpen Targets
0.05Suggestive
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar ↗
Related Genes
MYBPC1Shared pathway100%MYOM3Shared pathway100%MYH2Protein interaction99%MYL1Protein interaction99%CALML5Protein interaction97%MYH7Protein interaction96%
Tissue Expression6 tissues
Lung
100%
Brain
58%
Liver
30%
Ovary
26%
Bone Marrow
18%
Heart
0%
Gene Interaction Network
Click a node to explore
MYBPC2MYBPC1MYOM3MYH2MYL1CALML5MYH7
PROTEIN STRUCTURE
Preparing viewer…
PDB2E7C · NMR
View on RCSB ↗
Constraintⓘ
LOEUFⓘ
1.11LoF Tolerant
pLIⓘ
0.00Tolerant
Observed/Expected LoF0.96 [0.82–1.11]
RankingsWhere MYBPC2 stands among ~20K protein-coding genes
  • #12,394of 20,598
    Most Researched28
  • #11,440of 17,882
    Most Constrained (LOEUF)1.11
Genes detectedMYBPC2
Sources retrieved10 papers
Response time—
📄 Sources
10â–¼
1
MYBPC2 and MYL1 as Significant Gene Markers for Rhabdomyosarcoma.
PMID: 33499774
Technol Cancer Res Treat · 2021
1.00
2
Enhanced myogenesis through lncFAM-mediated recruitment of HNRNPL to the MYBPC2 promoter.
PMID: 36533518
Nucleic Acids Res · 2022
0.90
3
Critical genes in human photoaged skin identified using weighted gene co-expression network analysis.
PMID: 37454939
Genomics · 2023
0.80
4
I536T variant of RBM20 affects splicing of cardiac structural proteins that are causative for developing dilated cardiomyopathy.
PMID: 36198914
J Mol Med (Berl) · 2022
0.70
5
Etiology of genetic muscle disorders induced by mutations in fast and slow skeletal MyBP-C paralogs.
PMID: 36854776
Exp Mol Med · 2023
0.60