SEPTIN10
Septin 10, a member of the septin family involved in cytokinesis and cell cycle regulation
Gene Information Card
| Symbol | SEPTIN10 |
|---|---|
| Full Name | Septin 10 |
| Gene Type | Protein coding |
| Chromosomal Location | 2q37.3 |
| NCBI Gene ID | 151613 ncbi.nlm.nih.gov/gene/151613 |
| Ensembl ID | ENSG00000115977 |
| UniProt ID | Q9P0V9 |
| OMIM ID | 611734 |
| HGNC ID | 25511 |
| Aliases | SEPT10, SEPT-10, septin-10 |
Description
SEPTIN10 encodes a member of the septin family of GTP-binding proteins. Septins are involved in cytokinesis, cell cycle control, vesicle trafficking, and cytoskeletal organization. SEPTIN10 forms heterooligomeric complexes with other septins and is implicated in various cellular processes including cell division and membrane dynamics. Altered expression or mutations in SEPTIN10 have been associated with cancer and neurodegenerative disorders.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Breast cancer | Altered SEPTIN10 expression may disrupt cytokinesis and promote aneuploidy | COSMIC, literature |
| Colorectal cancer | SEPTIN10 downregulation linked to tumor progression | COSMIC, literature |
| Alzheimer's disease | SEPTIN10 variants associated with tau pathology | ClinVar, literature |
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 |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK293 | 14.0 | Embryonic kidney cells |
| HeLa | 11.5 | Cervical cancer cells |
| MCF7 | 9.8 | Breast cancer cells |
| A549 | 7.2 | Lung cancer cells |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.101C>T (p.Ala34Val) | Missense | <0.01% | Unknown functional impact |
| c.457G>A (p.Glu153Lys) | Missense | <0.01% | Reported in ClinVar as uncertain significance |
Mutation functional classification
Loss of Function (LOF)
No confirmed loss-of-function mutations reported in major databases.
Gain of Function (GOF)
No confirmed gain-of-function mutations reported.
Dominant Negative (DN)
No confirmed dominant-negative mutations reported.
View complete mutation data：
Gene Ontology (GO)
| • GTP binding | • GTPase activity |
| • cytokinesis | • cell division |
| • septin complex | • cytoskeleton |
Pathways
• Septin signaling
• Cell cycle - cytokinesis
Protein Summary
SEPTIN10 is a 379-amino acid protein (UniProt Q9P0V9) belonging to the septin family. It contains a GTP-binding domain and is capable of polymerizing into filaments. SEPTIN10 interacts with other septins (e.g., SEPT2, SEPT7) to form heteromeric complexes essential for cytokinesis and cell polarity. The protein is widely expressed, with highest levels in brain and testis. Post-translational modifications include phosphorylation, which may regulate its localization and function.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| SEPTIN10 Knockout HEK293 Cell Line | EDJ-KQ11317 | Human | 151011 | Details Get a Quote |
| SEPTIN10 Knockout HeLa Cell Line | EDJ-KQ38135 | Human | 151011 | Details Get a Quote |
| SEPTIN10 Knockout A-549 Cell Line | EDJ-KQ39459 | Human | 151011 | Details Get a Quote |
| SEPTIN10 Knockout HCT 116 Cell Line | EDJ-KQ39460 | Human | 151011 | Details Get a Quote |
