SEPTIN6
Septin 6, a member of the septin family involved in cytokinesis and cell division
Gene Information Card
| Symbol | SEPTIN6 |
|---|---|
| Full Name | septin 6 |
| Gene Type | protein-coding |
| Chromosomal Location | Xq24 |
| NCBI Gene ID | 23157 ncbi.nlm.nih.gov/gene/23157 |
| Ensembl ID | ENSG00000125354 |
| UniProt ID | Q14141 |
| OMIM ID | 300683 |
| HGNC ID | 15715 |
| Aliases | SEPT6, SEP2, MGC20387 |
Description
SEPTIN6 encodes a member of the septin family of GTP-binding proteins. Septins are involved in cytokinesis, cell cycle control, and membrane dynamics. SEPTIN6 forms heteromeric complexes with other septins and is essential for proper cell division. It is widely expressed and has been implicated in various cancers and neurodevelopmental disorders.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Acute myeloid leukemia | SEPTIN6 fusions (e.g., MLL-SEPT6) drive leukemogenesis via aberrant transcriptional activation | COSMIC, ClinVar |
| Myelodysplastic syndrome | SEPTIN6 rearrangements contribute to clonal expansion and dysplasia | COSMIC, ClinVar |
| Breast cancer | Altered SEPTIN6 expression correlates with tumor progression and poor prognosis | NCBI Gene, COSMIC |
| Neurodevelopmental disorders | SEPTIN6 mutations disrupt septin complex assembly, impairing neuronal cytokinesis | OMIM |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | 12.5 | Medium |
| Lung | 8.3 | Low |
| Liver | 6.1 | Low |
| Kidney | 9.7 | Low |
| Testis | 15.2 | Medium |
| Bone marrow | 11.4 | Medium |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| K562 (leukemia) | 14.8 | High expression |
| HeLa (cervical) | 10.2 | Medium expression |
| A549 (lung) | 7.5 | Low expression |
| MCF7 (breast) | 9.1 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| p.Gly47Arg | Missense | <0.1% | Unknown functional impact; rare in population |
| p.Arg264Trp | Missense | <0.1% | Potential loss of GTP binding |
| MLL-SEPT6 fusion | Chromosomal rearrangement | Rare in AML | Oncogenic; drives leukemogenesis |
Mutation functional classification
Loss of Function (LOF)
Missense mutations in GTP-binding domain may impair septin filament assembly and cytokinesis.
Gain of Function (GOF)
Fusion proteins (e.g., MLL-SEPT6) acquire constitutive transcriptional activation properties.
Dominant Negative (DN)
Mutant SEPTIN6 can disrupt wild-type septin complex formation, leading to cytokinesis failure.
View complete mutation data：
Gene Ontology (GO)
| • GTP binding | • GTPase activity |
| • cytokinesis | • cell division |
| • septin complex | • mitotic cell cycle |
| • protein homooligomerization |
Pathways
• Septin signaling
• Cell cycle - cytokinesis
• MLL fusion in acute leukemia
Protein Summary
SEPTIN6 is a 434-amino acid GTP-binding protein that assembles into filaments and heteromeric complexes with other septins. It localizes to the cleavage furrow during cytokinesis and is essential for proper cell division. The protein contains a central GTPase domain flanked by N- and C-terminal regions that mediate protein-protein interactions. Post-translational modifications include phosphorylation and sumoylation, which regulate its localization and function.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| SEPTIN6 Knockout HEK293 Cell Line | EDJ-KQ7858 | Human | 23157 | Details Get a Quote |
| SEPTIN6 Knockout A-549 Cell Line | EDJ-KQ33424 | Human | 23157 | Details Get a Quote |
| SEPTIN6 Knockout HCT 116 Cell Line | EDJ-KQ33425 | Human | 23157 | Details Get a Quote |
| SEPTIN6 Knockout HeLa Cell Line | EDJ-KQ33426 | Human | 23157 | Details Get a Quote |
