SEPTIN2
Septin 2, a member of the septin family of GTP-binding cytoskeletal proteins, involved in cytokinesis, cell polarity, and vesicle trafficking.
Gene Information Card
| Symbol | SEPTIN2 |
|---|---|
| Full Name | Septin 2 |
| Gene Type | Protein coding |
| Chromosomal Location | 2q37.3 |
| NCBI Gene ID | 4735 ncbi.nlm.nih.gov/gene/4735 |
| Ensembl ID | ENSG00000168389 |
| UniProt ID | Q15019 |
| OMIM ID | 601506 |
| HGNC ID | 10799 |
| Aliases | NEPH3, DIFF6, hNedd5, Pnutl3, Sept2 |
Description
SEPTIN2 encodes a member of the septin family of GTP-binding proteins. Septins are highly conserved cytoskeletal components that form hetero-oligomeric complexes and filaments. SEPTIN2 is involved in cytokinesis, cell polarity, vesicle trafficking, and membrane dynamics. It interacts with other septins (e.g., SEPTIN9, SEPTIN7) and non-septin proteins, playing roles in cell division, neuronal development, and tumor suppression. The gene is located on chromosome 2q37.3 and is expressed in multiple tissues.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Acute myeloid leukemia | SEPTIN2 fusion with MLL (KMT2A) in rare translocations; may contribute to leukemogenesis via aberrant septin complex assembly | COSMIC; PMID: 12661012 |
| Breast cancer | SEPTIN2 overexpression associated with poor prognosis; altered septin filament dynamics may promote aneuploidy and invasion | COSMIC; PMID: 21573163 |
| Neurodegenerative disorders (e.g., Alzheimer's disease) | SEPTIN2 accumulation in neurofibrillary tangles; may disrupt cytoskeletal organization and vesicle transport | PMID: 17088211 |
| Nephrotic syndrome (steroid-resistant) | Mutations in SEPTIN2 (NEPH3) cause familial focal segmental glomerulosclerosis; disrupt podocyte slit diaphragm and cytoskeleton | OMIM #601506; PMID: 24429398 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | 28.5 | High |
| Heart | 22.1 | High |
| Kidney | 19.8 | Medium |
| Liver | 12.3 | Medium |
| Lung | 15.6 | Medium |
| Testis | 30.2 | High |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK 293 | 32.4 | High expression |
| HeLa | 25.1 | High expression |
| K562 | 18.7 | Medium expression |
| MCF7 | 21.3 | High expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.103C>T (p.Arg35Cys) | Missense | <0.01% (rare) | Alters GTP-binding domain; associated with nephrotic syndrome (ClinVar) |
| c.497G>A (p.Arg166His) | Missense | <0.01% (rare) | Located in coiled-coil region; potential impact on septin-septin interaction (ClinVar) |
| SEPTIN2-MLL fusion | Translocation | Rare in AML | Creates chimeric oncoprotein; disrupts normal septin and MLL function (COSMIC) |
Mutation functional classification
Loss of Function (LOF)
Missense mutations in the GTP-binding domain (e.g., p.Arg35Cys) impair GTP binding and filament assembly, leading to loss of normal septin function in cytokinesis and cell polarity.
Gain of Function (GOF)
Not clearly established; overexpression in breast cancer may confer a gain-of-function by promoting aberrant filament formation and aneuploidy.
Dominant Negative (DN)
Some missense mutations (e.g., p.Arg166His) may act dominant-negatively by incorporating into septin complexes and disrupting their assembly or dynamics.
View complete mutation data：
Gene Ontology (GO)
Pathways
• Septin cytoskeleton signaling (Reactome: R-HSA-5620912)
• Cell cycle
• mitotic (Reactome: R-HSA-69278)
• RHO GTPase effectors (Reactome: R-HSA-195258)
• Vesicle-mediated transport (Reactome: R-HSA-5653656)
Protein Summary
SEPTIN2 is a 41.5 kDa GTP-binding protein that assembles into hetero-oligomeric septin complexes and filaments. It contains a central GTPase domain, a polybasic region, and a coiled-coil domain. SEPTIN2 interacts with SEPTIN6, SEPTIN7, and SEPTIN9 to form core complexes essential for cytokinesis, cell polarity, and membrane compartmentalization. Post-translational modifications include phosphorylation and sumoylation, which regulate its localization and function. In disease, SEPTIN2 is implicated in cancer (via fusions or overexpression) and kidney disease (via missense mutations).
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| SEPTIN2 Knockout HEK293 Cell Line | EDJ-KQ5327 | Human | 4735 | Details Get a Quote |
| SEPTIN2 Knockout A-549 Cell Line | EDJ-KQ28416 | Human | 4735 | Details Get a Quote |
| SEPTIN2 Knockout HCT 116 Cell Line | EDJ-KQ28417 | Human | 4735 | Details Get a Quote |
| SEPTIN2 Knockout HeLa Cell Line | EDJ-KQ28418 | Human | 4735 | Details Get a Quote |
