Smpx Gene Summary [Mouse]
Located in muscle tendon junction; myofibril; and nucleus. Is expressed in several structures, including alimentary system; heart; limb; respiratory system; and sensory organ. Used to study X-linked deafness 4. Human ortholog(s) of this gene implicated in X-linked deafness 4. Orthologous to human SMPX (small muscle protein X-linked). [provided by Alliance of Genome Resources, Jul 2025]
Details
| Type | Nonsense Mediated Decay |
| Official Symbol | Smpx |
| Official Name | small muscle protein, X-linked [Source:MGI Symbol;Acc:MGI:1913356] |
| Ensembl ID | ENSMUSG00000041476 |
| Bio databases IDs | |
| Aliases | small muscle protein, X-linked |
| Synonyms | 1010001C09Rik, Chisel, Csl, DFN6, DFNX4, MPD7, small muscle protein X-linked, small muscle protein, X-linked, SRMX |
| Species | Mouse, Mus musculus |
| Orthologies |
Protein Domains
A protein domain is a distinct structural or functional region within a protein that can evolve, function, and exist independently of the rest of the protein chain. These domains in mouse Smpx often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- Stretch-responsive small skeletal muscle X protein, Chisel
Top Findings
The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
- X-linked adult-onset distal myopathy type 7
- X-linked deafness type 4
- COVID-19
- familial nonsyndromic hearing impairment
- oral submucous fibrosis
- X-linked hearing loss
Subcellular Expression
Locations within the cell where the protein is known or predicted to be active, providing insight into its function and cellular context.
- Cytoplasm
- Nucleus
- costameres
- sarcomere
- myofibrils
- cell-matrix adherens junctions
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the mouse Smpx gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- striated muscle contraction
Cellular Component
Where in the cell the gene product is active
- nucleus
- muscle tendon junction
- costamere
- M band