SSPN (Sarcospan) Gene
A key component of the dystrophin-glycoprotein complex involved in muscular dystrophy and cancer
Gene Information Card
| Symbol | SSPN |
|---|---|
| Full Name | Sarcospan |
| Gene Type | protein-coding |
| Chromosomal Location | 12p11.21 |
| NCBI Gene ID | 8082 ncbi.nlm.nih.gov/gene/8082 |
| Ensembl ID | ENSG00000123096 |
| UniProt ID | Q14714 |
| OMIM ID | 601599 |
| HGNC ID | 11322 |
| Aliases | K-ras oncogene associated gene, KRAG, SPN1, DAP-1 |
Description
SSPN encodes sarcospan, a 25-kDa transmembrane protein that is a component of the dystrophin-glycoprotein complex (DGC). Sarcospan is expressed in skeletal and cardiac muscle, where it stabilizes the DGC and links the extracellular matrix to the cytoskeleton. It also plays roles in cell adhesion, signaling, and has been implicated in Duchenne muscular dystrophy (DMD) and cancer progression.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Duchenne Muscular Dystrophy (DMD) | Loss of dystrophin leads to disruption of the DGC, including sarcospan, causing membrane instability and muscle degeneration. | ClinVar, OMIM |
| Becker Muscular Dystrophy | Similar mechanism as DMD but with partial dystrophin function; sarcospan expression is reduced. | ClinVar, OMIM |
| Cancer (various) | SSPN overexpression in some cancers (e.g., breast, colon) may promote cell migration and invasion via altered DGC signaling. | COSMIC, NCBI |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Skeletal Muscle | 28.5 | High |
| Heart | 22.1 | High |
| Smooth Muscle | 8.3 | Medium |
| Brain | 1.2 | Low |
| Liver | 0.5 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| RD (rhabdomyosarcoma) | 15.0 | Muscle-derived cell line |
| A549 (lung carcinoma) | 2.1 | Low expression |
| MCF7 (breast carcinoma) | 4.5 | Moderate expression |
| HEK293 (embryonic kidney) | 0.8 | Not detected |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1A>G (p.Met1?) | Missense | <0.01% | Likely loss of start codon; effect unknown |
| c.287C>T (p.Pro96Leu) | Missense | <0.01% | Reported in ClinVar; uncertain significance |
| c.424_425insA | Frameshift | <0.01% | Predicted loss of function; not associated with disease |
Mutation functional classification
Loss of Function (LOF)
Frameshift or nonsense mutations that truncate sarcospan likely disrupt DGC integrity, contributing to muscle membrane fragility.
Gain of Function (GOF)
Not well documented; overexpression in cancer may confer gain-of-function in cell adhesion/migration.
Dominant Negative (DN)
No evidence for dominant-negative effects; SSPN mutations are typically recessive or somatic.
View complete mutation data：
Gene Ontology (GO)
| • GO:0005200 - structural constituent of cytoskeleton | • GO:0005912 - adherens junction |
| • GO:0016010 - dystrophin-associated glycoprotein complex | • GO:0042383 - sarcolemma |
| • GO:0007155 - cell adhesion |
Pathways
• Dystrophin-associated glycoprotein complex (DGC) - Reactome R-HSA-390522
• Integrin cell surface interactions - Reactome R-HSA-216083
Protein Summary
Sarcospan is a 25-kDa transmembrane protein with four transmembrane domains and a short extracellular N-terminus. It is a core component of the dystrophin-glycoprotein complex (DGC) in muscle cells, where it binds dystrophin, dystroglycans, and sarcoglycans. Sarcospan stabilizes the DGC at the sarcolemma and is essential for muscle fiber integrity. In non-muscle tissues, it may participate in cell adhesion and signaling. Altered expression is observed in muscular dystrophies and certain cancers.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| SSPN Knockout HEK293 Cell Line | EDJ-KQ6168 | Human | 8082 | Details Get a Quote |
| SSPN Knockout A-549 Cell Line | EDJ-KQ29987 | Human | 8082 | Details Get a Quote |
| SSPN Knockout HeLa Cell Line | EDJ-KQ54820 | Human | 8082 | Details Get a Quote |
| SSPN Knockout HCT 116 Cell Line | EDJ-KQ71781 | Human | 8082 | Details Get a Quote |
| SSPN Knockout C2C12 Cell Line | EDC08225 | Mouse | 16651 | Details Get a Quote |
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