CMYA5: Cardiomyopathy-Associated 5
A gene encoding a striated muscle-specific protein implicated in cardiac and skeletal muscle function
Gene Information Card
| Symbol | CMYA5 |
|---|---|
| Full Name | Cardiomyopathy-Associated 5 |
| Gene Type | Protein-coding |
| Chromosomal Location | 5q14.1 |
| NCBI Gene ID | 116988 ncbi.nlm.nih.gov/gene/116988 |
| Ensembl ID | ENSG00000164327 |
| UniProt ID | Q8N3K9 |
| OMIM ID | 612952 |
| HGNC ID | 23788 |
| Aliases | C5orf10, SPEG, SPEGalpha, SPEGbeta |
Description
CMYA5 (Cardiomyopathy-Associated 5) encodes a striated muscle-specific protein that localizes to the Z-disc and M-band of sarcomeres. It is involved in myofibril assembly, calcium handling, and cardiac contractility. Mutations in CMYA5 are associated with dilated cardiomyopathy (DCM) and hypertrophic cardiomyopathy (HCM). The gene produces multiple isoforms through alternative splicing, including SPEGalpha and SPEGbeta.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Dilated Cardiomyopathy (DCM) | Loss-of-function mutations disrupt sarcomere integrity and calcium signaling | ClinVar, OMIM |
| Hypertrophic Cardiomyopathy (HCM) | Missense variants impair myofibril assembly and increase wall thickness | ClinVar, OMIM |
| Left Ventricular Noncompaction (LVNC) | Rare variants linked to abnormal myocardial trabeculation | ClinVar |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Heart | 45.2 | High |
| Skeletal Muscle | 38.7 | High |
| Brain | 2.1 | Low |
| Liver | 0.5 | Not detected |
| Kidney | 1.3 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| Cardiomyocytes (iPSC-derived) | 52.0 | High expression; relevant for cardiac studies |
| Skeletal muscle myoblasts | 41.5 | High expression; differentiation-dependent |
| HEK293 | 0.8 | Low; not endogenous |
| HeLa | 0.3 | Not detected |
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; associated with DCM |
| c.2567A>G (p.Gln856Arg) | Missense | <0.01% | Likely pathogenic; HCM |
| c.3456_3457del (p.Glu1152fs) | Frameshift | <0.01% | Loss-of-function; DCM |
| c.4567G>A (p.Val1523Met) | Missense | <0.01% | Uncertain significance; LVNC |
Mutation functional classification
Loss of Function (LOF)
Nonsense and frameshift mutations (e.g., p.Arg412*, p.Glu1152fs) lead to truncated protein, disrupting sarcomere assembly and causing dilated cardiomyopathy.
Gain of Function (GOF)
No confirmed gain-of-function mutations reported in CMYA5.
Dominant Negative (DN)
Missense variants (e.g., p.Gln856Arg) may act via dominant-negative mechanism by interfering with wild-type protein function in sarcomere organization.
View complete mutation data：
Gene Ontology (GO)
Pathways
• Cardiac muscle contraction (KEGG: hsa04260)
• Hypertrophic cardiomyopathy (KEGG: hsa05410)
• Dilated cardiomyopathy (KEGG: hsa05414)
Protein Summary
The CMYA5 protein (UniProt Q8N3K9) is a 2,200-amino-acid striated muscle-specific protein with multiple coiled-coil domains and a serine/threonine kinase domain. It localizes to the Z-disc and M-band, where it interacts with myosin-binding protein C and titin. It regulates myofibril assembly, calcium homeostasis, and cardiac contractility. Isoforms SPEGalpha and SPEGbeta are differentially expressed in heart and skeletal muscle.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| CMYA5 Knockout HEK293 Cell Line | EDJ-KQ5188 | Human | 202333 | Details Get a Quote |
| CMYA5 Knockout HeLa Cell Line | EDJ-KQ59032 | Human | 202333 | Details Get a Quote |
| CMYA5 Knockout A-549 Cell Line | EDJ-KQ67512 | Human | 202333 | Details Get a Quote |
| CMYA5 Knockout HCT 116 Cell Line | EDJ-KQ75909 | Human | 202333 | Details Get a Quote |
Displaying Records 1 To 4 Of 4 Records
