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10 sources retrieved · Most recent: April 2026 · Index updated 14 days ago
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MYBPHL
myosin binding protein H like
Chromosome 1 · 1p13.3
NCBI Gene: 343263Ensembl: ENSG00000221986.8HGNC: HGNC:30434UniProt: A2RUH7
14PubMed Papers
20Diseases
0Drugs
0Pathogenic Variants
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
protein bindingmyofilamentsarcomeremolecular_functionneurodegenerative diseasecardiomyopathyhypertrophic cardiomyopathyBrugada syndrome
✦AI Summary

MYBPHL encodes myosin binding protein H-like (MyBP-HL), a myofilament-associated protein that plays a critical role in cardiac conduction and atrial function 1. The protein is preferentially expressed in atrial tissue, with high atrial expression and low ventricular expression, though it is also found in discrete puncta throughout the ventricular conduction system, particularly near the atrioventricular node and Purkinje fibers 2. MyBP-HL functions by incorporating into myofilaments and regulating calcium handling in atrial cardiomyocytes 2. Loss-of-function mutations cause dilated cardiomyopathy, atrial enlargement, and cardiac conduction defects including atrioventricular block and atrial arrhythmias 12. Mechanistically, MYBPHL deficiency leads to ryanodine receptor disorganization, increased calcium release heterogeneity, and shortened atrial refractory periods 2. Clinically, MYBPHL serves as a specific biomarker for atrial damage, with rapid release into circulation following atrial ablation procedures 3. The protein exists in two isoforms, with isoform 2 being almost exclusively atrial-specific 3. Beyond cardiac function, MYBPHL variants have been associated with multiple myeloma pathogenesis through enhancer hypomethylation mechanisms 4.

Sources cited
1
MYBPHL encodes MyBP-HL, a myofilament-associated protein with high atrial and low ventricular expression that causes cardiomyopathy and arrhythmias when mutated
PMID: 28778945
2
MyBP-HL localizes to ventricular conduction system and its loss causes calcium handling defects, ryanodine receptor disorganization, and conduction abnormalities
PMID: 35533732
3
MYBPHL is preferentially expressed in atrial tissue with two isoforms, serves as a biomarker for atrial damage, and is rapidly released after atrial ablation
PMID: 31292467
4
MYBPHL is associated with multiple myeloma pathogenesis through enhancer hypomethylation mechanisms
PMID: 33772052
⚠Limited data available — This gene has 4 indexed publications. Summary and analysis may be incomplete.
Disease Associationsⓘ20
neurodegenerative diseaseOpen Targets
0.30Weak
cardiomyopathyOpen Targets
0.12Weak
Brugada syndromeOpen Targets
0.12Weak
hypertrophic cardiomyopathyOpen Targets
0.12Weak
Non-immune hydrops fetalisOpen Targets
0.11Weak
Abnormality of the skeletal systemOpen Targets
0.10Weak
intelligenceOpen Targets
0.10Weak
mathematical abilityOpen Targets
0.07Suggestive
health study participationOpen Targets
0.07Suggestive
autism spectrum disorderOpen Targets
0.05Suggestive
Miyoshi myopathyOpen Targets
0.05Suggestive
attention deficit hyperactivity disorderOpen Targets
0.05Suggestive
heart diseaseOpen Targets
0.02Suggestive
obesityOpen Targets
0.02Suggestive
multiple myelomaOpen Targets
0.01Suggestive
coronary artery diseaseOpen Targets
0.01Suggestive
ArrhythmiaOpen Targets
0.01Suggestive
cardiac hypertrophyOpen Targets
0.01Suggestive
dilated cardiomyopathyOpen Targets
0.01Suggestive
avascular necrosisOpen Targets
0.01Suggestive
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar ↗
Related Genes
SMIM46Shared pathway100%C8orf90Shared pathway100%SMIM44Shared pathway100%C21orf140Shared pathway100%CIMIP7Shared pathway100%ZNF862Shared pathway100%
Tissue Expression6 tissues
Heart
100%
Brain
62%
Lung
38%
Bone Marrow
8%
Ovary
1%
Liver
1%
Gene Interaction Network
Click a node to explore
MYBPHLSMIM46C8orf90SMIM44C21orf140CIMIP7ZNF862
PROTEIN STRUCTURE
Preparing viewer…
AlphaFoldAI-predicted · UniProt A2RUH7
View on AlphaFold ↗
Constraintⓘ
LOEUFⓘ
1.06LoF Tolerant
pLIⓘ
0.00Tolerant
Observed/Expected LoF0.79 [0.59–1.06]
RankingsWhere MYBPHL stands among ~20K protein-coding genes
  • #15,932of 20,598
    Most Researched14
  • #10,658of 17,882
    Most Constrained (LOEUF)1.06
Genes detectedMYBPHL
Sources retrieved10 papers
Response time—
📄 Sources
10▼
1
Partial and complete loss of myosin binding protein H-like cause cardiac conduction defects.
PMID: 35533732
J Mol Cell Cardiol · 2022
1.00
2
From genotype to phenotype in human atherosclerosis--recent findings.
PMID: 24005217
Curr Opin Lipidol · 2013
0.90
3
A proof-of-concept study for the pathogenetic role of enhancer hypomethylation of MYBPHL in multiple myeloma.
PMID: 33772052
Sci Rep · 2021
0.80
4
Effect of dietary habits on multiple cardiovascular diseases: A comprehensive Mendelian randomization study.
PMID: 40922271
Medicine (Baltimore) · 2025
0.70
5
Genome-wide meta-analysis identifies novel determinants of circulating serum progranulin.
PMID: 29186428
Hum Mol Genet · 2018
0.60