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GeneE
10 sources retrieved Β· Most recent: April 2026 Β· Index updated 15 days ago
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MYH7B
myosin heavy chain 7B
Chromosome 20 Β· 20q11.22
NCBI Gene: 57644Ensembl: ENSG00000078814.20HGNC: HGNC:15906UniProt: A7E2Y1
44PubMed Papers
20Diseases
3Drugs
12Pathogenic Variants
CLINICAL
FDA Approved Target
DATA QUALITY
βœ“ Experimental GO Evidenceβœ“ Swiss-Prot Reviewed
protein bindingmyosin filamentactin filament bindingmicrofilament motor activityhypertrophic cardiomyopathyhypertrophic cardiomyopathy 1Rare familial disorder with hypertrophic cardiomyopathycardiovascular disease
✦AI Summary

MYH7B encodes myosin heavy chain 7B, a sarcomeric myosin family member involved in muscle contraction through actin filament binding and microfilament motor activity 1. Unlike other sarcomeric myosins, MYH7b is functionally specialized for slow, energy-conserving motor activity with slower actin-activated ATPase cycles and actin sliding velocities compared to cardiac Ξ²-MyHC, and preferentially adopts an ultraslow, super-relaxed myosin head state 1. In mammals, MYH7b undergoes nonproductive alternative splicing that prevents protein expression in cardiac tissue, though it is expressed in specialized skeletal muscles and nonmuscle environments 21. MYH7b has clinical relevance to multiple cardiovascular pathologies: genome-wide association analysis identified MYH7b as associated with myocardial interstitial fibrosis and linked to cardiac hypertrophy 34. Polystyrene microplastics induce cardiac hypertrophy with upregulation of MYH7b expression in cardiac organoids 4. Additionally, MYH7b variants are associated with chr20 thromboembolic pulmonary hypertension 5 and hereditary hearing loss, representing the first myosin mutations linked to auditory rather than muscle pathology 6. These findings indicate MYH7b functions beyond traditional sarcomeric muscle roles with distinct disease associations.

Sources cited
1
MYH7b is specialized for slow, energy-conserving motor activity with slower kinetics and preferentially adopts ultraslow, super-relaxed myosin head state compared to cardiac Ξ²-MyHC
PMID: 36334627
2
In mammals, MYH7b undergoes nonproductive alternative splicing preventing protein expression in cardiac tissue but expressed in specialized skeletal muscles and nonmuscle environments
PMID: 34227390
3
MYH7b locus identified by genome-wide association analysis as implicated in cardiac hypertrophy and myocardial interstitial fibrosis
PMID: 37081215
4
Polystyrene microplastics induce cardiac hypertrophy with noticeably changed MYH7b expression in cardiac organoids
PMID: 37669592
5
MYH7b locus associated with chronic thromboembolic pulmonary hypertension in genome-wide association study
PMID: 38470220
6
MYH7b mutations (D515N and R1651Q) linked to hereditary hearing loss, the first myosin mutations associated with auditory rather than muscle pathology
PMID: 36963494
Disease Associationsβ“˜20
hypertrophic cardiomyopathyOpen Targets
0.65Moderate
hypertrophic cardiomyopathy 1Open Targets
0.50Moderate
Rare familial disorder with hypertrophic cardiomyopathyOpen Targets
0.50Moderate
cardiovascular diseaseOpen Targets
0.46Moderate
Short statureOpen Targets
0.42Moderate
left ventricular noncompactionOpen Targets
0.40Moderate
heart failureOpen Targets
0.39Weak
melanomaOpen Targets
0.32Weak
ovarian dysfunctionOpen Targets
0.32Weak
skin cancerOpen Targets
0.29Weak
congenital left-sided heart lesionsOpen Targets
0.20Weak
seborrheic dermatitisOpen Targets
0.13Weak
deep vein thrombosisOpen Targets
0.13Weak
ThromboembolismOpen Targets
0.13Weak
Flexion contractureOpen Targets
0.11Weak
dilated cardiomyopathyOpen Targets
0.10Weak
spinal stenosisOpen Targets
0.07Suggestive
heart diseaseOpen Targets
0.07Suggestive
Adult-onset autosomal recessive sideroblastic anemiaOpen Targets
0.05Suggestive
Blackfan-Diamond anemiaOpen Targets
0.05Suggestive
Pathogenic Variants12
NM_020884.7(MYH7B):c.2812G>T (p.Glu938Ter)Likely pathogenic
Hypertrophic cardiomyopathy;Dilated cardiomyopathy with left ventricular noncompaction
β˜…β˜†β˜†β˜†2024β†’ Residue 938
NM_020884.7(MYH7B):c.2176del (p.Arg726fs)Likely pathogenic
MYH7B-related hypertrophic cardiomyopathy
β˜…β˜†β˜†β˜†2023β†’ Residue 726
NM_020884.7(MYH7B):c.882_883del (p.Gly295fs)Likely pathogenic
MYH7B-related hypertrophic cardiomyopathy
β˜…β˜†β˜†β˜†2023β†’ Residue 295
NM_020884.7(MYH7B):c.2700+2T>ALikely pathogenic
Hypertrophic cardiomyopathy 1
β˜†β˜†β˜†β˜†2023
NM_020884.7(MYH7B):c.5335G>C (p.Glu1779Gln)Likely pathogenic
Hypertrophic cardiomyopathy 1
β˜†β˜†β˜†β˜†2019β†’ Residue 1779
NM_020884.7(MYH7B):c.611_615dup (p.Lys206fs)Pathogenic
Hypertrophic cardiomyopathy 1
β˜†β˜†β˜†β˜†2019β†’ Residue 206
NM_020884.7(MYH7B):c.4931_4932del (p.Thr1644fs)Pathogenic
Hypertrophic cardiomyopathy 1
β˜†β˜†β˜†β˜†2019β†’ Residue 1644
NM_020884.7(MYH7B):c.624+1G>APathogenic
Hypertrophic cardiomyopathy 1
β˜†β˜†β˜†β˜†2019
NM_020884.7(MYH7B):c.1837T>C (p.Phe613Leu)Likely pathogenic
Hypertrophic cardiomyopathy 1
β˜†β˜†β˜†β˜†2019β†’ Residue 613
NM_020884.7(MYH7B):c.2719G>C (p.Asp907His)Likely pathogenic
Hypertrophic cardiomyopathy 1
β˜†β˜†β˜†β˜†2019β†’ Residue 907
NM_020884.7(MYH7B):c.4415G>A (p.Arg1472Gln)Likely pathogenic
Hypertrophic cardiomyopathy 1
β˜†β˜†β˜†β˜†2019β†’ Residue 1472
NM_020884.7(MYH7B):c.2986G>A (p.Val996Met)Likely pathogenic
Short stature
β˜†β˜†β˜†β˜†2001β†’ Residue 996
View on ClinVar β†—
Drug Targets3
DANICAMTIVPhase II/III
Cardiac myosin activator
MAVACAMTENApproved
Cardiac myosin inhibitor
hypertrophic cardiomyopathy
OMECAMTIV MECARBILApproved
Cardiac myosin activator
cardiovascular disease
Related Genes
MYLK3Protein interaction95%MYL12BProtein interaction91%PURBProtein interaction87%SOX6Protein interaction87%MED13Protein interaction83%MYH7Protein interaction83%
Tissue Expression6 tissues
Heart
100%
Ovary
5%
Brain
4%
Liver
2%
Lung
2%
Bone Marrow
1%
Gene Interaction Network
Click a node to explore
MYH7BMYLK3MYL12BPURBSOX6MED13MYH7
PROTEIN STRUCTURE
Preparing viewer…
AlphaFoldAI-predicted Β· UniProt A7E2Y1
View on AlphaFold β†—
RankingsWhere MYH7B stands among ~20K protein-coding genes
  • #9,622of 20,598
    Most Researched44
  • #670of 1,025
    FDA-Approved Drug Targets2
  • #2,699of 5,498
    Most Pathogenic Variants12
Genes detectedMYH7B
Sources retrieved10 papers
Response timeβ€”
πŸ“„ Sources
10β–Ό
1
Genetics of myocardial interstitial fibrosis in the human heart and association with disease.
PMID: 37081215
Nat Genet Β· 2023
1.00
2
Low-dose of polystyrene microplastics induce cardiotoxicity in mice and human-originated cardiac organoids.
PMID: 37669592
Environ Int Β· 2023
0.90
3
Myh7b/miR-499 gene expression is transcriptionally regulated by MRFs and Eos.
PMID: 22638570
Nucleic Acids Res Β· 2012
0.80
4
Shared and Distinct Genomics of Chronic Thromboembolic Pulmonary Hypertension and Pulmonary Embolism.
PMID: 38470220
Am J Respir Crit Care Med Β· 2024
0.70
5
Functional divergence of the sarcomeric myosin, MYH7b, supports species-specific biological roles.
PMID: 36334627
J Biol Chem Β· 2023
0.60