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10 sources retrieved · Most recent: April 2026 · Index updated 14 days ago
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MYBPH
myosin binding protein H
Chromosome 1 · 1q32.1
NCBI Gene: 4608Ensembl: ENSG00000133055.11HGNC: HGNC:7552UniProt: Q13203
15PubMed Papers
20Diseases
0Drugs
0Pathogenic Variants
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
protein bindingstructural constituent of musclesarcomere organizationM bandneurodegenerative diseasecorneal dystrophygliomaMyasthenia gravis
✦AI Summary

MYBPH (myosin binding protein H) is a sarcomeric protein that regulates muscle contraction through multiple mechanisms. In cardiac muscle, MYBPH functions cooperatively with cardiac myosin binding protein C (cMyBPC) to maintain normal contractility, as demonstrated by reduced cardiac contractility only when both proteins are simultaneously knocked down 1. The protein localizes to sarcomeric structures and contributes to sarcomere organization 1. Beyond its structural role, MYBPH acts as a negative regulator of cell motility by directly inhibiting both ROCK1 kinase and non-muscle myosin heavy chain IIA assembly, thereby reducing actomyosin organization and cell migration 23. In cardiac pathology, genetic variants in MYBPH serve as modifiers of hypertrophy severity in hypertrophic cardiomyopathy patients carrying specific mutations 4. The protein shows altered expression in response to therapeutic interventions, with mavacamten treatment upregulating MYBPH in patient-derived cardiac models 5. Interestingly, MYBPH expression varies significantly across different pathological contexts, being associated with poor prognosis in glioma patients 6 but serving as a potential biomarker for muscle function improvement in myotonic dystrophy 7. These findings establish MYBPH as a multifunctional protein with roles in both normal muscle physiology and disease pathogenesis.

Sources cited
1
MYBPH functions cooperatively with cMyBPC in cardiac contractility and localizes to sarcomeric structures
PMID: 25449695
2
MYBPH inhibits ROCK1 and reduces cell motility through regulation of actomyosin organization
PMID: 22085929
3
MYBPH directly interacts with non-muscle myosin heavy chain IIA and inhibits its assembly
PMID: 23068101
4
MYBPH genetic variants modify hypertrophy severity in hypertrophic cardiomyopathy patients
PMID: 26969327
5
Mavacamten treatment upregulates MYBPH expression in cardiac models
PMID: 41215595
6
High MYBPH expression is associated with poor prognosis in glioma patients
PMID: 35087137
7
MYBPH serves as a potential biomarker for muscle function improvement in myotonic dystrophy
PMID: 37694373
Disease Associationsⓘ20
neurodegenerative diseaseOpen Targets
0.35Weak
corneal dystrophyOpen Targets
0.29Weak
gliomaOpen Targets
0.08Suggestive
Myasthenia gravisOpen Targets
0.07Suggestive
osteoporosisOpen Targets
0.05Suggestive
postmenopausal osteoporosisOpen Targets
0.05Suggestive
12q14 microdeletion syndromeOpen Targets
0.04Suggestive
glioblastoma multiformeOpen Targets
0.04Suggestive
pyknoachondrogenesisOpen Targets
0.04Suggestive
melorheostosisOpen Targets
0.04Suggestive
Non-Neoplastic Bile Duct DisorderOpen Targets
0.04Suggestive
Dacryocystitis - osteopoikilosisOpen Targets
0.04Suggestive
dacryocystitis-osteopoikilosis syndromeOpen Targets
0.04Suggestive
gnathodiaphyseal dysplasiaOpen Targets
0.04Suggestive
osteomesopyknosisOpen Targets
0.04Suggestive
autosomal recessive hypophosphatemic ricketsOpen Targets
0.03Suggestive
central nervous system cancerOpen Targets
0.03Suggestive
neoplasmOpen Targets
0.03Suggestive
SepsisOpen Targets
0.03Suggestive
amyotrophic lateral sclerosisOpen Targets
0.03Suggestive
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar ↗
Related Genes
CFHR4Protein interaction100%OCA2Protein interaction100%GLDCProtein interaction99%SLAMF1Protein interaction99%NECTIN4Protein interaction99%CFHR5Protein interaction99%
Tissue Expression6 tissues
Liver
100%
Brain
75%
Lung
69%
Bone Marrow
29%
Ovary
4%
Heart
0%
Gene Interaction Network
Click a node to explore
MYBPHCFHR4OCA2GLDCSLAMF1NECTIN4CFHR5
PROTEIN STRUCTURE
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AlphaFoldAI-predicted · UniProt Q13203
View on AlphaFold ↗
Constraintⓘ
LOEUFⓘ
1.19LoF Tolerant
pLIⓘ
0.00Tolerant
Observed/Expected LoF0.94 [0.74–1.19]
RankingsWhere MYBPH stands among ~20K protein-coding genes
  • #15,630of 20,598
    Most Researched15
  • #12,469of 17,882
    Most Constrained (LOEUF)1.19
Genes detectedMYBPH
Sources retrieved10 papers
Response time—
📄 Sources
10▼
1
High myosin binding protein H expression predicts poor prognosis in glioma patients.
PMID: 35087137
Sci Rep · 2022
1.00
2
Towards the Identification of Biomarkers for Muscle Function Improvement in Myotonic Dystrophy Type 1.
PMID: 37694373
J Neuromuscul Dis · 2023
0.90
3
MYBPH, a transcriptional target of TTF-1, inhibits ROCK1, and reduces cell motility and metastasis.
PMID: 22085929
EMBO J · 2012
0.80
4
MYBPH acts as modifier of cardiac hypertrophy in hypertrophic cardiomyopathy (HCM) patients.
PMID: 26969327
Hum Genet · 2016
0.70
5
Transcriptional and functional effects of mavacamten in multiple porcine and human models with hypertrophic cardiomyopathy.
PMID: 41215595
Br J Pharmacol · 2026
0.60