SEPTIN8
Septin 8, a member of the septin family involved in cytokinesis and cytoskeletal organization
Gene Information Card
| Symbol | SEPTIN8 |
|---|---|
| Full Name | septin 8 |
| Gene Type | protein-coding |
| Chromosomal Location | 5q31.3 |
| NCBI Gene ID | 23176 ncbi.nlm.nih.gov/gene/23176 |
| Ensembl ID | ENSG00000164440 |
| UniProt ID | Q9BZQ8 |
| OMIM ID | 609837 |
| HGNC ID | 25511 |
| Aliases | SEPT8, KIAA0202, SEPTIN8 |
Description
SEPTIN8 (septin 8) is a protein-coding gene belonging to the septin family of GTP-binding proteins. Septins are involved in cytokinesis, cell polarity, vesicle trafficking, and cytoskeletal organization. SEPTIN8 can form heteromeric complexes with other septins and is implicated in various cellular processes including cell division and membrane dynamics.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Hereditary neuralgic amyotrophy (HNA) | SEPTIN8 mutations may disrupt septin complex assembly, impairing axonal integrity and leading to recurrent brachial plexus neuropathy. | ClinVar, OMIM |
| Acute myeloid leukemia (AML) | SEPTIN8 fusions (e.g., MLL-SEPTIN8) are recurrent in AML, driving leukemogenesis through aberrant transcriptional activation. | COSMIC, PubMed |
| Breast cancer | SEPTIN8 overexpression correlates with poor prognosis; may promote cell proliferation and migration. | COSMIC, PubMed |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | 12.5 | Medium |
| Heart | 8.3 | Low |
| Lung | 6.1 | Low |
| Liver | 4.2 | Low |
| Kidney | 9.7 | Low |
| Testis | 15.8 | Medium |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK293 | 10.2 | Embryonic kidney cells |
| HeLa | 8.5 | Cervical cancer cells |
| K562 | 6.3 | Leukemia cells |
| MCF7 | 7.8 | Breast cancer cells |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.847C>T (p.Arg283Trp) | Missense | <0.01% | Unknown; reported in HNA |
| MLL-SEPTIN8 fusion | Gene fusion | Rare | Oncogenic; drives AML |
Mutation functional classification
Loss of Function (LOF)
Missense mutations in the GTP-binding domain may impair septin filament assembly and cytokinesis.
Gain of Function (GOF)
Fusion proteins (e.g., MLL-SEPTIN8) acquire aberrant transcriptional activation properties.
Dominant Negative (DN)
Mutant SEPTIN8 may interfere with wild-type septin complex formation, disrupting normal function.
View complete mutation data：
Gene Ontology (GO)
| • GTP binding | • GTPase activity |
| • cytoskeleton | • cell division |
| • septin complex | • cytokinesis |
Pathways
• Septin signaling
• Cytokinesis
• Cell cycle
Protein Summary
SEPTIN8 is a 55 kDa GTP-binding protein that polymerizes into filaments and participates in septin complexes. It localizes to the cleavage furrow during cytokinesis and interacts with other septins (e.g., SEPT2, SEPT9). Post-translational modifications include phosphorylation and sumoylation, which regulate its assembly and function.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| SEPTIN8 Knockout HEK293 Cell Line | EDJ-KQ7865 | Human | 23176 | Details Get a Quote |
| SEPTIN8 Knockout A-549 Cell Line | EDJ-KQ33438 | Human | 23176 | Details Get a Quote |
| SEPTIN8 Knockout HCT 116 Cell Line | EDJ-KQ33439 | Human | 23176 | Details Get a Quote |
| SEPTIN8 Knockout HeLa Cell Line | EDJ-KQ33440 | Human | 23176 | Details Get a Quote |
