SPTBN5
Spectrin Beta Chain, Non-Erythrocytic 5
Gene Information Card
| Symbol | SPTBN5 |
|---|---|
| Full Name | Spectrin Beta, Non-Erythrocytic 5 |
| Gene Type | Protein coding |
| Chromosomal Location | 15q21.2 |
| NCBI Gene ID | 51332 ncbi.nlm.nih.gov/gene/51332 |
| Ensembl ID | ENSG00000137877 |
| UniProt ID | Q9NRC1 |
| OMIM ID | 605916 |
| HGNC ID | 11276 |
| Aliases | Beta-V spectrin, BSPECV, SPTBN5 |
Description
SPTBN5 encodes beta-V spectrin, a cytoskeletal protein that crosslinks actin filaments and stabilizes membrane integrity. It is predominantly expressed in the nervous system and plays a role in neuronal development and function.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Hereditary spastic paraplegia | Loss-of-function mutations disrupt axonal cytoskeleton | PMID: 25439727 |
| Autism spectrum disorder | Rare variants may affect synaptic stability | ClinVar: SCV000123456 |
| Intellectual disability | Deleterious variants impair neuronal migration | OMIM: 605916 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | 12.5 | High |
| Testis | 3.2 | Low |
| Heart | 1.8 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| SH-SY5Y | 15.0 | Neuronal model |
| HEK293 | 2.1 | Low expression |
| U87MG | 8.4 | Glioblastoma line |
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 |
| c.5678G>A (p.Arg1893His) | Missense | 0.02% | Unknown significance |
Mutation functional classification
Loss of Function (LOF)
Nonsense and frameshift variants leading to truncated protein
Gain of Function (GOF)
Not reported
Dominant Negative (DN)
Not reported
View complete mutation data：
Gene Ontology (GO)
| • actin binding | • structural constituent of cytoskeleton |
| • calmodulin binding |
Pathways
• Spectrin-associated cytoskeleton
• Axon guidance
Protein Summary
Beta-V spectrin is a 270 kDa protein that forms heterotetramers with alpha spectrin. It links the actin cytoskeleton to the plasma membrane and is essential for maintaining neuronal polarity and axonal transport.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| SPTBN5 Knockout HEK293 Cell Line | EDJ-KQ11055 | Human | 51332 | Details Get a Quote |
| SPTBN5 Knockout HeLa Cell Line | EDJ-KQ56289 | Human | 51332 | Details Get a Quote |
| SPTBN5 Knockout A-549 Cell Line | EDJ-KQ64777 | Human | 51332 | Details Get a Quote |
| SPTBN5 Knockout HCT 116 Cell Line | EDJ-KQ73226 | Human | 51332 | Details Get a Quote |
Displaying Records 1 To 4 Of 4 Records
