SEPTIN7 (SEPT7): A Core Septin GTPase in Cytokinesis and Neuronal Function
Comprehensive biomedical reference for SEPTIN7, covering gene structure, expression, disease associations, mutations, and functional pathways.
Gene Information Card
| Symbol | SEPTIN7 |
|---|---|
| Full Name | septin 7 |
| Gene Type | protein-coding |
| Chromosomal Location | 7p14.2 |
| NCBI Gene ID | 989 ncbi.nlm.nih.gov/gene/989 |
| Ensembl ID | ENSG00000172543 |
| UniProt ID | Q16181 |
| OMIM ID | 603696 |
| HGNC ID | 1717 |
| Aliases | CDC10, SEPT7, MGC1661 |
Description
SEPTIN7 (SEPT7) encodes a member of the septin family of GTP-binding proteins. Septins are conserved cytoskeletal components that polymerize into filaments and rings, playing essential roles in cytokinesis, cell polarity, vesicle trafficking, and membrane dynamics. SEPTIN7 is a core component of most septin complexes and is particularly important for neuronal development and function. It is widely expressed across tissues and is implicated in various cancers and neurological disorders.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Glioblastoma | Altered SEPTIN7 expression and localization may affect cytokinesis and cell proliferation, contributing to tumor aggressiveness. | COSMIC: SEPTIN7 mutations and expression changes observed in glioblastoma samples. |
| Colorectal cancer | Downregulation of SEPTIN7 has been reported, potentially impairing cytokinesis and promoting aneuploidy. | COSMIC: Somatic mutations and copy number alterations in colorectal cancer. |
| Hepatocellular carcinoma | SEPTIN7 overexpression may promote cell migration and invasion via septin filament dynamics. | COSMIC: Expression changes and mutations in liver cancer. |
| Neurodevelopmental disorders | SEPTIN7 is critical for dendritic spine formation and synaptic function; disruption may contribute to intellectual disability and autism spectrum disorders. | ClinVar: Rare variants in SEPTIN7 reported in patients with neurodevelopmental phenotypes. |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | 42.3 | High |
| Testis | 38.1 | High |
| Lung | 25.7 | Medium |
| Liver | 22.4 | Medium |
| Kidney | 20.9 | Medium |
| Heart | 18.2 | Medium |
| Skeletal Muscle | 15.6 | Low |
| Pancreas | 12.3 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HeLa | 35.2 | Cervical cancer cell line; high expression |
| A549 | 28.7 | Lung carcinoma; moderate expression |
| HepG2 | 24.1 | Hepatocellular carcinoma; moderate expression |
| SH-SY5Y | 45.6 | Neuroblastoma; high expression, relevant for neuronal studies |
| MCF7 | 19.8 | Breast cancer; low-moderate expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.947G>A (p.Arg316His) | Missense | 0.01% (gnomAD) | Potential impact on GTPase activity and filament assembly; clinical significance uncertain. |
| c.1120C>T (p.Arg374Trp) | Missense | 0.005% (gnomAD) | Located in the coiled-coil domain; may affect septin-septin interactions. |
| c.1336G>A (p.Val446Met) | Missense | 0.002% (gnomAD) | In C-terminal domain; possible effect on protein stability. |
| c.IVS5+1G>A | Splice site | Rare | Predicted to disrupt splicing; likely loss-of-function. |
Mutation functional classification
Loss of Function (LOF)
Loss-of-function mutations (e.g., splice site, frameshift) are expected to impair cytokinesis and neuronal function, potentially contributing to developmental disorders and cancer.
Gain of Function (GOF)
Gain-of-function mutations are not well characterized; overexpression of wild-type SEPTIN7 has been linked to tumor progression, suggesting a possible oncogenic role.
Dominant Negative (DN)
Missense mutations in the GTPase or coiled-coil domains may act in a dominant-negative manner, disrupting septin filament formation and cellular processes.
View complete mutation data：
Gene Ontology (GO)
| • GTP binding | • GTPase activity |
| • protein homodimerization activity | • protein heterodimerization activity |
| • structural constituent of cytoskeleton | • identical protein binding |
| • cell division | • cytokinesis |
| • septin ring assembly | • neuron projection development |
| • synaptic transmission |
Pathways
• Septin cytoskeleton signaling
• Cytokinesis
• Neuronal development and synaptic plasticity
• Cell cycle regulation
Protein Summary
SEPTIN7 is a 418-amino acid protein (UniProt Q16181) that belongs to the septin family. It contains a GTP-binding domain and a coiled-coil region. SEPTIN7 forms hetero-oligomeric complexes with other septins (e.g., SEPT2, SEPT6, SEPT9) to assemble into filaments and rings. These structures are essential for cytokinesis, cell polarity, and membrane compartmentalization. In neurons, SEPTIN7 is involved in dendritic spine morphogenesis and synaptic function. Post-translational modifications, such as phosphorylation, regulate its localization and function. SEPTIN7 is ubiquitously expressed, with highest levels in brain and testis.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| SEPTIN7 Knockout HEK293 Cell Line | EDJ-KQ3540 | Human | 989 | Details Get a Quote |
| SEPTIN7 Knockout A-549 Cell Line | EDJ-KQ26701 | Human | 989 | Details Get a Quote |
| SEPTIN7 Knockout HCT 116 Cell Line | EDJ-KQ26702 | Human | 989 | Details Get a Quote |
| SEPTIN7 Knockout HeLa Cell Line | EDJ-KQ26703 | Human | 989 | Details Get a Quote |
