SEPTIN9
Septin 9, a member of the septin family involved in cytokinesis and cell cycle regulation, frequently hypermethylated in colorectal cancer.
Gene Information Card
| Symbol | SEPTIN9 |
|---|---|
| Full Name | Septin 9 |
| Gene Type | Protein coding |
| Chromosomal Location | 17q25.3 |
| NCBI Gene ID | 10801 ncbi.nlm.nih.gov/gene/10801 |
| Ensembl ID | ENSG00000184640 |
| UniProt ID | Q9UHD8 |
| OMIM ID | 604061 |
| HGNC ID | 10799 |
| Aliases | MSF, SEPT9, MLL septin-like fusion protein, Septin-9 |
Description
SEPTIN9 encodes a member of the septin family of GTP-binding proteins that are involved in cytokinesis, cell cycle control, and membrane dynamics. The gene produces multiple splice variants. Promoter hypermethylation of SEPTIN9 is a well-established epigenetic biomarker for colorectal cancer screening.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Colorectal cancer | Hypermethylation of SEPTIN9 promoter leads to transcriptional silencing, contributing to tumorigenesis. | ClinVar, COSMIC, multiple clinical studies |
| Hereditary neuralgic amyotrophy | Missense mutations in SEPTIN9 cause autosomal dominant hereditary neuralgic amyotrophy (HNA). | OMIM #604061, ClinVar |
| Acute myeloid leukemia | Fusion of SEPTIN9 with MLL (KMT2A) in therapy-related AML. | COSMIC, literature |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Colon | 10.2 | Medium |
| Lung | 8.5 | Medium |
| Brain | 6.1 | Low |
| Testis | 12.3 | High |
| Kidney | 7.8 | Medium |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HeLa | 9.4 | Cervical cancer cell line |
| A549 | 8.1 | Lung adenocarcinoma cell line |
| HCT116 | 11.5 | Colorectal carcinoma cell line |
| HEK293 | 7.2 | Embryonic kidney cell line |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.278C>T (p.Ser93Phe) | Missense | Rare | Associated with hereditary neuralgic amyotrophy |
| Promoter hypermethylation | Epigenetic | Frequent in colorectal cancer | Transcriptional silencing |
| SEPT9-MLL fusion | Chromosomal rearrangement | Rare in AML | Oncogenic fusion protein |
Mutation functional classification
Loss of Function (LOF)
Promoter hypermethylation leading to reduced SEPTIN9 expression in colorectal cancer.
Gain of Function (GOF)
Not clearly established; SEPT9-MLL fusion may confer gain-of-function in leukemia.
Dominant Negative (DN)
Missense mutations (e.g., Ser93Phe) in hereditary neuralgic amyotrophy likely act via dominant-negative mechanism.
View complete mutation data：
Gene Ontology (GO)
| • GTP binding | • GTPase activity |
| • cytokinesis | • cell division |
| • septin ring | • mitotic cell cycle |
| • protein homooligomerization |
Pathways
• Septin cytoskeleton signaling
• Cell cycle - cytokinesis
• KMT2A (MLL) fusion protein pathway
Protein Summary
SEPTIN9 encodes a 586-amino acid GTP-binding protein that polymerizes into filamentous structures essential for cytokinesis and cell polarity. The protein contains a central GTPase domain, a polybasic region, and a coiled-coil domain. Multiple isoforms exist due to alternative splicing. SEPTIN9 interacts with other septins and cytoskeletal components to form hetero-oligomeric complexes.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| SEPTIN9 Knockout HEK293 Cell Line | EDJ-KQ6541 | Human | 10801 | Details Get a Quote |
| SEPTIN9 Knockout A-549 Cell Line | EDJ-KQ32095 | Human | 10801 | Details Get a Quote |
| SEPTIN9 Knockout HCT 116 Cell Line | EDJ-KQ32096 | Human | 10801 | Details Get a Quote |
| SEPTIN9 Knockout HeLa Cell Line | EDJ-KQ32097 | Human | 10801 | Details Get a Quote |
