MYH14: Myosin Heavy Chain 14 - A Key Player in Hearing and Neuromuscular Function
Comprehensive genomic and proteomic overview of MYH14, a non-muscle myosin II heavy chain gene implicated in deafness and peripheral neuropathy.
Gene Information Card
| Symbol | MYH14 |
|---|---|
| Full Name | Myosin Heavy Chain 14 |
| Gene Type | Protein coding |
| Chromosomal Location | 19q13.33 |
| NCBI Gene ID | 79784 ncbi.nlm.nih.gov/gene/79784 |
| Ensembl ID | ENSG00000105357 |
| UniProt ID | Q7Z406 |
| OMIM ID | 608568 |
| HGNC ID | 23212 |
| Aliases | DFNA4, MYH17, NMHC II-C, non-muscle myosin heavy chain IIc |
Description
MYH14 encodes the heavy chain of non-muscle myosin IIc, a member of the myosin superfamily. This protein is involved in cytokinesis, cell motility, and maintenance of cell structure. Mutations in MYH14 are associated with autosomal dominant non-syndromic hearing loss (DFNA4) and peripheral neuropathy, highlighting its critical role in auditory and neuronal function.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Autosomal dominant non-syndromic hearing loss 4 (DFNA4) | Missense mutations in the motor domain disrupt actin-based mechanotransduction in cochlear hair cells | ClinVar, OMIM |
| Peripheral neuropathy, myosin heavy chain 14-related | Dominant mutations impair axonal transport and cytoskeletal integrity in peripheral nerves | OMIM, PubMed |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | 12.5 | Medium |
| Heart | 8.2 | Low |
| Cochlea | 15.0 | High |
| Skeletal Muscle | 6.1 | Low |
| Kidney | 9.8 | Medium |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HeLa | 10.3 | Cervical cancer cell line |
| SH-SY5Y | 14.1 | Neuroblastoma cell line |
| HEK293 | 7.5 | Embryonic kidney cells |
| Hair cell (inner ear) | 18.0 | Primary cell, high expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.211C>T (p.Arg71Cys) | Missense | Rare | Dominant negative; associated with DFNA4 |
| c.1103G>A (p.Arg368His) | Missense | Rare | Gain of function?; reported in peripheral neuropathy |
| c.1756C>T (p.Arg586Trp) | Missense | Rare | Loss of function; hearing loss |
Mutation functional classification
Loss of Function (LOF)
Rare truncating or missense variants that reduce ATPase activity or filament assembly, leading to haploinsufficiency in cochlear cells.
Gain of Function (GOF)
Not well established; some missense mutations may alter actin-binding kinetics, but evidence is limited.
Dominant Negative (DN)
Common mechanism in DFNA4; mutant myosin interferes with wild-type protein function, disrupting cytoskeletal dynamics in hair cells.
View complete mutation data：
Gene Ontology (GO)
| • motor activity (GO:0003774) | • ATP binding (GO:0005524) |
| • myosin complex (GO:0016459) | • muscle filament sliding (GO:0030049) |
| • actin filament organization (GO:0007015) |
Pathways
• Non-muscle myosin II signaling (Reactome: R-HSA-445355)
• Smooth muscle contraction (KEGG: hsa04270)
• Focal adhesion (KEGG: hsa04510)
Protein Summary
MYH14 encodes non-muscle myosin heavy chain IIc (NMHC II-C), a 1960-amino-acid protein that forms a hexameric myosin II complex. It contains an N-terminal motor domain with ATPase activity, a neck region with IQ motifs for light chain binding, and a C-terminal tail domain involved in filament assembly. The protein is highly expressed in the cochlea and brain, where it generates contractile force for cell shape changes, migration, and mechanotransduction.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| MYH14 Knockout HEK293 Cell Line | EDJ-KQ14340 | Human | 79784 | Details Get a Quote |
| MYH14 Knockout A-549 Cell Line | EDJ-KQ44452 | Human | 79784 | Details Get a Quote |
| MYH14 Knockout HCT 116 Cell Line | EDJ-KQ44453 | Human | 79784 | Details Get a Quote |
| MYH14 Knockout HeLa Cell Line | EDJ-KQ57225 | Human | 79784 | Details Get a Quote |
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