MYH7B
Myosin Heavy Chain 7B
Gene Information Card
| Symbol | MYH7B |
|---|---|
| Full Name | myosin heavy chain 7B |
| Gene Type | protein coding |
| Chromosomal Location | 20q11.22 |
| NCBI Gene ID | 57644 ncbi.nlm.nih.gov/gene/57644 |
| Ensembl ID | ENSG00000101441 |
| UniProt ID | Q9UKX3 |
| OMIM ID | 613112 |
| HGNC ID | 7579 |
| Aliases | MYH7B, MYH14, MHC14, MYHCB |
Description
MYH7B (myosin heavy chain 7B) is a protein-coding gene located on chromosome 20q11.22. It encodes a member of the myosin heavy chain family, specifically a cardiac myosin heavy chain isoform. This gene is involved in muscle contraction, particularly in cardiac and skeletal muscle. MYH7B is expressed in heart, skeletal muscle, and other tissues. Mutations in MYH7B have been associated with cardiomyopathy and other muscle disorders.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Cardiomyopathy, dilated | Altered myosin function disrupts cardiac contractility | ClinVar, OMIM |
| Cardiomyopathy, hypertrophic | Missense mutations impair sarcomere function | ClinVar, OMIM |
| Myopathy, distal | Loss of myosin heavy chain leads to muscle weakness | ClinVar |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Heart | 45.2 | High |
| Skeletal muscle | 38.7 | High |
| Esophagus | 12.3 | Medium |
| Thyroid | 8.1 | Low |
| Testis | 5.4 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| Cardiomyocytes | 62.1 | High expression |
| Skeletal muscle myoblasts | 55.3 | High expression |
| Fibroblasts | 2.1 | Low expression |
| HEK293 | 1.8 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1327C>T (p.Arg443Cys) | Missense | 0.001% | Associated with dilated cardiomyopathy |
| c.2156G>A (p.Arg719Gln) | Missense | 0.002% | Associated with hypertrophic cardiomyopathy |
| c.4870G>A (p.Glu1624Lys) | Missense | 0.0005% | Likely pathogenic in cardiomyopathy |
Mutation functional classification
Loss of Function (LOF)
Loss-of-function mutations in MYH7B reduce myosin ATPase activity, impairing cardiac contractility and leading to dilated cardiomyopathy.
Gain of Function (GOF)
Gain-of-function mutations are not well documented for MYH7B; most reported variants are missense with dominant-negative effects.
Dominant Negative (DN)
Dominant-negative mutations in MYH7B disrupt sarcomere assembly and force generation, contributing to hypertrophic cardiomyopathy.
View complete mutation data：
Gene Ontology (GO)
| • motor activity (GO:0003774) | • ATP binding (GO:0005524) |
| • myosin complex (GO:0016459) | • myosin filament (GO:0032982) |
| • cardiac muscle contraction (GO:0060048) |
Pathways
• Cardiac muscle contraction (KEGG: hsa04260)
• Hypertrophic cardiomyopathy (KEGG: hsa05410)
• Dilated cardiomyopathy (KEGG: hsa05414)
Protein Summary
MYH7B encodes a cardiac myosin heavy chain (MyHC) that forms the thick filament of the sarcomere. It provides the molecular motor for muscle contraction via ATP hydrolysis. The protein is predominantly expressed in heart and skeletal muscle. Mutations in MYH7B can lead to cardiomyopathies by disrupting sarcomere structure and function.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| MYH7B Knockout HEK293 Cell Line | EDJ-KQ12071 | Human | 57644 | Details Get a Quote |
| MYH7B Knockout HeLa Cell Line | EDJ-KQ56893 | Human | 57644 | Details Get a Quote |
| MYH7B Knockout A-549 Cell Line | EDJ-KQ65406 | Human | 57644 | Details Get a Quote |
| MYH7B Knockout HCT 116 Cell Line | EDJ-KQ73843 | Human | 57644 | Details Get a Quote |
Displaying Records 1 To 4 Of 4 Records
