SPTBN4
Spectrin Beta, Non-Erythrocytic 4
Gene Information Card
| Symbol | SPTBN4 |
|---|---|
| Full Name | Spectrin Beta, Non-Erythrocytic 4 |
| Gene Type | Protein coding |
| Chromosomal Location | 19q13.2 |
| NCBI Gene ID | 57731 ncbi.nlm.nih.gov/gene/57731 |
| Ensembl ID | ENSG00000115310 |
| UniProt ID | Q9H254 |
| OMIM ID | 606214 |
| HGNC ID | 14892 |
| Aliases | SPTBN3, beta-IV spectrin, bIV-spectrin |
Description
SPTBN4 encodes beta-IV spectrin, a cytoskeletal protein that crosslinks actin filaments and stabilizes the plasma membrane. It is essential for neuronal development, axonal transport, and muscle function. Mutations cause neurodevelopmental disorders with congenital myopathy.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Neurodevelopmental disorder with hypotonia and variable brain anomalies (NEDHYBA) | Loss-of-function mutations disrupt spectrin-actin network, impairing neuronal migration and axonal integrity | ClinVar, OMIM #6195 |
| Congenital myopathy with fiber-type disproportion | Defective spectrin leads to sarcomere disorganization and muscle weakness | ClinVar, OMIM #606214 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | 12.5 | Medium |
| Muscle | 8.3 | Low |
| Heart | 6.1 | Low |
| Testis | 4.7 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| SH-SY5Y (neuroblastoma) | 15.2 | Neuronal model |
| U-87 MG (glioblastoma) | 10.8 | Glial model |
| HepG2 (hepatocellular carcinoma) | 2.1 | Low expression |
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; truncation of spectrin repeats |
| c.567_568del (p.Glu190fs) | Frameshift | <0.01% | Loss of function; premature stop codon |
| c.2345G>A (p.Arg782His) | Missense | <0.01% | Dominant negative; disrupts actin binding |
Mutation functional classification
Loss of Function (LOF)
Nonsense and frameshift mutations leading to truncated protein or nonsense-mediated decay.
Gain of Function (GOF)
Not reported.
Dominant Negative (DN)
Missense mutations in the actin-binding domain that interfere with wild-type spectrin function.
View complete mutation data：
Gene Ontology (GO)
| • actin binding | • structural constituent of cytoskeleton |
| • calmodulin binding | • plasma membrane organization |
| • axon guidance | • muscle contraction |
Pathways
• Spectrin-associated cytoskeleton
• Axon guidance
• Muscle contraction
Protein Summary
Beta-IV spectrin is a 2551-amino acid protein with multiple spectrin repeats, an actin-binding domain, and a calmodulin-binding domain. It forms tetramers with alpha-II spectrin to organize the membrane skeleton in neurons and muscle cells. Mutations cause cytoskeletal instability leading to neurodevelopmental and myopathic phenotypes.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| SPTBN4 Knockout HEK293 Cell Line | EDJ-KQ15504 | Human | 57731 | Details Get a Quote |
| SPTBN4 Knockout A-549 Cell Line | EDJ-KQ46301 | Human | 57731 | Details Get a Quote |
| SPTBN4 Knockout HCT 116 Cell Line | EDJ-KQ46302 | Human | 57731 | Details Get a Quote |
| SPTBN4 Knockout HeLa Cell Line | EDJ-KQ56912 | Human | 57731 | Details Get a Quote |
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