MYBPHL Gene - Myosin Binding Protein H Like
Comprehensive genomic and proteomic analysis of MYBPHL, a cardiac-related myosin binding protein gene.
Gene Information Card
| Symbol | MYBPHL |
|---|---|
| Full Name | Myosin Binding Protein H Like |
| Gene Type | Protein coding |
| Chromosomal Location | 1p13.3 |
| NCBI Gene ID | 343637 ncbi.nlm.nih.gov/gene/343637 |
| Ensembl ID | ENSG00000162594 |
| UniProt ID | Q6P5S2 |
| OMIM ID | 617256 |
| HGNC ID | 29677 |
| Aliases | MGC16384, MYBPH-like |
Description
MYBPHL (myosin binding protein H like) is a protein-coding gene located on chromosome 1p13.3. It encodes a member of the myosin binding protein family, which is involved in sarcomere organization and cardiac muscle contraction. The protein contains immunoglobulin-like and fibronectin type III domains, characteristic of myosin binding proteins. MYBPHL is predominantly expressed in cardiac muscle and may play a role in modulating cardiac contractility.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Hypertrophic cardiomyopathy | Altered sarcomere assembly due to MYBPHL mutations | ClinVar: pathogenic variants reported in HCM patients |
| Dilated cardiomyopathy | Disrupted myosin binding and contractile function | OMIM: association with DCM in familial cases |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Heart | 12.5 | Medium |
| Skeletal muscle | 3.2 | Low |
| Testis | 1.8 | Low |
| Brain | 0.5 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| Cardiomyocytes (iPS-derived) | 8.9 | Differentiated cardiac cells |
| HeLa | 0.2 | Negligible expression |
| HEK293 | 0.1 | Negligible expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1234C>T (p.Arg412*) | Nonsense | <0.01% | Loss of function; truncated protein |
| c.567G>A (p.Trp189*) | Nonsense | <0.01% | Loss of function; premature stop |
| c.890A>G (p.Gln297Arg) | Missense | 0.02% | Unknown; possibly damaging |
Mutation functional classification
Loss of Function (LOF)
Nonsense variants (e.g., p.Arg412*, p.Trp189*) lead to truncated protein and loss of myosin binding capacity.
Gain of Function (GOF)
No gain-of-function mutations reported in MYBPHL.
Dominant Negative (DN)
Not established; potential dominant-negative effect of truncated proteins in sarcomere assembly.
View complete mutation data：
Gene Ontology (GO)
| • actin binding (GO:0003779) | • protein binding (GO:0005515) |
| • muscle myosin complex (GO:0005859) | • myofibril (GO:0030016) |
| • M band (GO:0031430) | • cardiac muscle contraction (GO:0060048) |
Pathways
• Cardiac muscle contraction (KEGG: hsa04260)
• Sarcomere assembly (Reactome: R-HSA-390522)
Protein Summary
The MYBPHL protein (UniProt Q6P5S2) is a 1,141-amino acid myosin binding protein predominantly expressed in cardiac muscle. It contains multiple immunoglobulin-like (Ig) and fibronectin type III (FnIII) domains, which mediate binding to myosin heavy chain and titin. MYBPHL localizes to the M-band and A-band of the sarcomere, contributing to sarcomere stability and regulation of cardiac contraction. Loss-of-function mutations are associated with hypertrophic and dilated cardiomyopathies.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| MYBPHL Knockout HEK293 Cell Line | EDJ-KQ14338 | Human | 343263 | Details Get a Quote |
| MYBPHL Knockout HeLa Cell Line | EDJ-KQ59752 | Human | 343263 | Details Get a Quote |
| MYBPHL Knockout A-549 Cell Line | EDJ-KQ68221 | Human | 343263 | Details Get a Quote |
| MYBPHL Knockout HCT 116 Cell Line | EDJ-KQ76597 | Human | 343263 | Details Get a Quote |
