SEPTIN4
Septin 4, a member of the septin family involved in cytokinesis, apoptosis, and tumor suppression
Gene Information Card
| Symbol | SEPTIN4 |
|---|---|
| Full Name | septin 4 |
| Gene Type | protein-coding |
| Chromosomal Location | 17q22 |
| NCBI Gene ID | 5414 ncbi.nlm.nih.gov/gene/5414 |
| Ensembl ID | ENSG00000108387 |
| UniProt ID | O43236 |
| OMIM ID | 603696 |
| HGNC ID | 10752 |
| Aliases | SEPT4, hCDCREL-2, MLL septin-like fusion protein, ARTS, PNUTL2, CE5B3 |
Description
SEPTIN4 (septin 4) is a member of the septin family of GTP-binding proteins. Septins are involved in cytokinesis, cell cycle control, and membrane dynamics. SEPTIN4 is expressed in various tissues and has been implicated in apoptosis, particularly through its pro-apoptotic isoform ARTS (apoptosis-related protein in the TGF-β signaling pathway). It acts as a tumor suppressor and is frequently downregulated or mutated in several cancers. SEPTIN4 also plays a role in spermatogenesis and neuronal function.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Acute myeloid leukemia (AML) | Fusion of SEPTIN4 with MLL (KMT2A) leads to oncogenic transformation | COSMIC, NCBI |
| Colorectal cancer | Reduced expression of SEPTIN4 promotes cell survival and proliferation | NCBI, PubMed |
| Prostate cancer | Loss of SEPTIN4 expression correlates with poor prognosis | NCBI, PubMed |
| Neurodegenerative disorders (e.g., Parkinson's disease) | SEPTIN4 interacts with α-synuclein and may contribute to Lewy body formation | NCBI, PubMed |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | 10.2 | Medium |
| Heart | 8.5 | Medium |
| Testis | 25.3 | High |
| Liver | 3.1 | Low |
| Kidney | 6.8 | Medium |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK 293 | 12.4 | Embryonic kidney cells |
| HeLa | 9.7 | Cervical cancer cells |
| K562 | 5.2 | Chronic myeloid leukemia cells |
| SH-SY5Y | 15.1 | Neuroblastoma cells |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| p.Gly41Val | Missense | 0.02% (COSMIC) | Unknown; may affect GTP binding |
| p.Arg88* | Nonsense | 0.01% (COSMIC) | Loss of function; truncation |
| SEPTIN4-MLL fusion | Translocation | Rare in AML | Oncogenic; disrupts normal septin function |
Mutation functional classification
Loss of Function (LOF)
Nonsense mutations (e.g., p.Arg88*) and deletions lead to loss of pro-apoptotic activity, contributing to tumorigenesis.
Gain of Function (GOF)
Not well documented; SEPTIN4 fusions (e.g., with MLL) may acquire oncogenic properties.
Dominant Negative (DN)
Truncated isoforms or missense variants may interfere with normal septin filament assembly.
View complete mutation data：
Gene Ontology (GO)
| • GTP binding | • GTPase activity |
| • cytokinesis | • apoptotic process |
| • cell cycle | • protein homooligomerization |
| • septin complex |
Pathways
• Apoptosis (TGF-β signaling)
• Cytokinesis (septin ring assembly)
• MLL fusion in leukemia
Protein Summary
SEPTIN4 encodes a 478-amino acid protein (isoform 1) with a central GTPase domain and a C-terminal coiled-coil region. It forms heterooligomeric complexes with other septins to assemble filaments required for cytokinesis and cell polarity. The pro-apoptotic isoform ARTS (lacking the C-terminal domain) localizes to mitochondria and promotes apoptosis by inhibiting XIAP. SEPTIN4 is widely expressed, with highest levels in testis and brain. Post-translational modifications include phosphorylation and sumoylation.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| SEPTIN4 Knockout HEK293 Cell Line | EDJ-KQ5501 | Human | 5414 | Details Get a Quote |
| SEPTIN4 Knockout HCT 116 Cell Line | EDJ-KQ28737 | Human | 5414 | Details Get a Quote |
| SEPTIN4 Knockout HeLa Cell Line | EDJ-KQ77876 | Human | 5414 | Details Get a Quote |
| SEPTIN4 Knockout A-549 Cell Line | EDJ-KQ77877 | Human | 5414 | Details Get a Quote |
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