SEPTIN3
Septin 3, a member of the septin family involved in cytokinesis and neuronal function
Gene Information Card
| Symbol | SEPTIN3 |
|---|---|
| Full Name | septin 3 |
| Gene Type | protein-coding |
| Chromosomal Location | 22q13.31 |
| NCBI Gene ID | 55964 ncbi.nlm.nih.gov/gene/55964 |
| Ensembl ID | ENSG00000100167 |
| UniProt ID | Q9UH03 |
| OMIM ID | 608314 |
| HGNC ID | 10751 |
| Aliases | SEPT3, SEPTIN3, MGC20396 |
Description
SEPTIN3 (septin 3) is a protein-coding gene belonging to the septin family of GTP-binding proteins. Septins are involved in cytokinesis, cell polarity, vesicle trafficking, and cytoskeletal organization. SEPTIN3 is highly expressed in the brain and plays a role in neuronal development and function. It forms heteromeric complexes with other septins and is implicated in synaptic vesicle dynamics.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Hereditary neuralgic amyotrophy (HNA) | SEPTIN3 mutations may disrupt septin complex assembly, impairing axonal integrity and leading to recurrent brachial plexus neuropathy. | ClinVar, OMIM |
| Schizophrenia | Altered SEPTIN3 expression and rare variants have been associated with schizophrenia risk, possibly via synaptic dysfunction. | ClinVar, NCBI |
| Bipolar disorder | Genetic association studies suggest SEPTIN3 polymorphisms may contribute to bipolar disorder susceptibility. | NCBI, OMIM |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | 28.5 | High |
| Testis | 6.2 | Medium |
| Lung | 2.1 | Low |
| Heart | 1.8 | Low |
| Liver | 0.5 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| SH-SY5Y (neuroblastoma) | 15.3 | High expression |
| HEK293 (embryonic kidney) | 3.4 | Moderate expression |
| HeLa (cervical carcinoma) | 1.2 | Low expression |
| HepG2 (hepatocellular carcinoma) | 0.8 | Not detected |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.101C>T (p.Thr34Met) | Missense | <0.01% | Unknown; reported in ClinVar as variant of uncertain significance |
| c.205G>A (p.Gly69Ser) | Missense | <0.01% | Unknown; associated with hereditary neuralgic amyotrophy in one family |
| c.347A>G (p.Asn116Ser) | Missense | <0.01% | Unknown; reported in ClinVar |
Mutation functional classification
Loss of Function (LOF)
No confirmed loss-of-function mutations reported in SEPTIN3.
Gain of Function (GOF)
No confirmed gain-of-function mutations reported.
Dominant Negative (DN)
Some missense variants (e.g., p.Gly69Ser) may exert dominant-negative effects by disrupting septin complex formation.
View complete mutation data：
Gene Ontology (GO)
| • GTP binding | • GTPase activity |
| • cytoskeleton | • cell division |
| • synaptic vesicle exocytosis | • neuron projection development |
Pathways
• Septin complex assembly
• Cytokinesis
• Synaptic vesicle cycle
Protein Summary
SEPTIN3 encodes a 358-amino-acid protein with a central GTPase domain and a C-terminal coiled-coil region. It polymerizes into filaments and scaffolds that regulate membrane dynamics and cell division. In neurons, SEPTIN3 localizes to presynaptic terminals and interacts with syntaxin-1 to modulate neurotransmitter release.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| SEPTIN3 Knockout HEK293 Cell Line | EDJ-KQ15225 | Human | 55964 | Details Get a Quote |
| SEPTIN3 Knockout A-549 Cell Line | EDJ-KQ45885 | Human | 55964 | Details Get a Quote |
| SEPTIN3 Knockout HCT 116 Cell Line | EDJ-KQ45886 | Human | 55964 | Details Get a Quote |
| SEPTIN3 Knockout HeLa Cell Line | EDJ-KQ56656 | Human | 55964 | Details Get a Quote |
