SPTBN1
Spectrin Beta, Non-Erythrocytic 1
Gene Information Card
| Symbol | SPTBN1 |
|---|---|
| Full Name | Spectrin Beta, Non-Erythrocytic 1 |
| Gene Type | Protein coding |
| Chromosomal Location | 2p16.2 |
| NCBI Gene ID | 6711 ncbi.nlm.nih.gov/gene/6711 |
| Ensembl ID | ENSG00000115525 |
| UniProt ID | Q01082 |
| OMIM ID | 182790 |
| HGNC ID | 11274 |
| Aliases | Beta-II spectrin, SPTB2, ELF, betaSpII |
Description
SPTBN1 encodes beta-II spectrin, a cytoskeletal protein that crosslinks actin filaments and stabilizes membrane integrity. It is involved in cell adhesion, signaling, and intracellular transport. Mutations in SPTBN1 are associated with developmental disorders and cancer.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Developmental and epileptic encephalopathy 92 (DEE92) | Loss-of-function mutations disrupt neuronal spectrin-actin cytoskeleton, impairing synaptic function and neuronal migration. | ClinVar, OMIM |
| Hepatocellular carcinoma | Reduced SPTBN1 expression correlates with TGF-beta signaling dysregulation and tumor progression. | COSMIC, PubMed |
| Spinocerebellar ataxia type 5 (SCA5) | Missense mutations in beta-III spectrin (SPTBN2) are linked; SPTBN1 may modify disease severity. | OMIM |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | 12.5 | High |
| Heart | 8.3 | Medium |
| Liver | 6.1 | Medium |
| Kidney | 5.4 | Medium |
| Lung | 4.2 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| SH-SY5Y | 15.2 | Neuronal cell line |
| HepG2 | 9.8 | Hepatocellular carcinoma |
| HEK293 | 7.5 | Embryonic kidney |
| A549 | 5.1 | Lung carcinoma |
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 DEE92 |
| c.5678A>G (p.Gln1893Arg) | Missense | 0.02% | Alters spectrin dimerization; potential gain-of-function |
| c.8901_8904del (p.Glu2967fs) | Frameshift | <0.01% | Loss of function; reported in hepatocellular carcinoma |
Mutation functional classification
Loss of Function (LOF)
Nonsense and frameshift mutations that truncate the protein, leading to haploinsufficiency or complete loss of beta-II spectrin function.
Gain of Function (GOF)
Missense mutations that enhance spectrin-actin binding or alter protein stability, potentially promoting aberrant cell signaling.
Dominant Negative (DN)
Mutations that produce a defective protein interfering with wild-type spectrin assembly, disrupting cytoskeletal integrity.
View complete mutation data：
Gene Ontology (GO)
| • actin binding | • structural constituent of cytoskeleton |
| • calmodulin binding | • protein heterodimerization activity |
| • cytoskeleton organization |
Pathways
• Spectrin-associated cytoskeleton
• TGF-beta signaling pathway
• Cell adhesion molecules (CAMs)
• Axon guidance
Protein Summary
Beta-II spectrin (SPTBN1) is a 2363-amino-acid protein that forms heterodimers with alpha-II spectrin. It contains multiple spectrin repeats, an SH3 domain, and a calmodulin-binding domain. The protein localizes to the plasma membrane and is essential for maintaining cell shape, polarity, and signal transduction.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| SPTBN1 Knockout HEK293 Cell Line | EDJ-KQ2469 | Human | 6711 | Details Get a Quote |
| SPTBN1 Knockout A-549 Cell Line | EDJ-KQ23030 | Human | 6711 | Details Get a Quote |
| SPTBN1 Knockout HCT 116 Cell Line | EDJ-KQ23031 | Human | 6711 | Details Get a Quote |
| SPTBN1 Knockout HeLa Cell Line | EDJ-KQ21676 | Human | 6711 | Details Get a Quote |
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