SEPTIN14 Gene: Structure, Function, and Clinical Significance
A comprehensive overview of the SEPTIN14 gene, including its genomic location, protein product, expression patterns, and associated diseases.
Gene Information Card
| Symbol | SEPTIN14 |
|---|---|
| Full Name | septin 14 |
| Gene Type | protein coding |
| Chromosomal Location | 7p11.2 |
| NCBI Gene ID | 346288 ncbi.nlm.nih.gov/gene/346288 |
| Ensembl ID | ENSG00000164742 |
| UniProt ID | Q6ZU15 |
| OMIM ID | 612140 |
| HGNC ID | 26421 |
| Aliases | SEPT14 |
Description
SEPTIN14 (septin 14) is a protein-coding gene located on chromosome 7p11.2. It belongs to the septin family of GTP-binding proteins, which are involved in cytokinesis, cell polarity, membrane dynamics, and vesicle trafficking. SEPTIN14 is predominantly expressed in the testis and plays a critical role in spermatogenesis. Mutations in SEPTIN14 have been associated with male infertility due to defective sperm head formation and acrosome development.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Male infertility | Mutations in SEPTIN14 disrupt spermatogenesis, leading to abnormal sperm morphology and reduced fertility. | ClinVar and literature reports (e.g., Kuo et al., 2015) identify pathogenic variants in infertile men. |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | High (e.g., ~50 nTPM) | Predominant expression |
| Brain | Low | Minimal expression |
| Lung | Low | Minimal expression |
| Liver | Low | Minimal expression |
| Kidney | Low | Minimal expression |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HeLa | Not detected | No significant expression |
| A549 | Not detected | No significant expression |
| MCF7 | Not detected | No significant expression |
| K562 | Not detected | No significant expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.118G>A (p.Gly40Arg) | Missense | Rare (found in infertile males) | Disrupts GTP-binding domain, impairing protein function and spermatogenesis. |
| c.431C>T (p.Pro144Leu) | Missense | Rare (found in infertile males) | Alters protein structure, leading to defective acrosome formation. |
Mutation functional classification
Loss of Function (LOF)
Pathogenic missense mutations in SEPTIN14 lead to loss of function, impairing its role in spermatogenesis and causing male infertility.
Gain of Function (GOF)
No evidence of gain-of-function mutations reported.
Dominant Negative (DN)
No evidence of dominant-negative effects; mutations are likely recessive or haploinsufficient.
View complete mutation data：
Gene Ontology (GO)
| • GTP binding | • GTPase activity |
| • cytoskeleton | • cell division |
| • septin complex | • spermatogenesis |
Pathways
• Septin-mediated cytoskeletal regulation
• Cytokinesis
• Spermatogenesis
Protein Summary
SEPTIN14 is a 418-amino acid protein that belongs to the septin family. It contains a GTP-binding domain and a septin-type GTPase domain. The protein is involved in filament formation and is essential for proper sperm head shaping and acrosome biogenesis. It interacts with other septins to form hetero-oligomeric complexes.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| SEPTIN14 Knockout HEK293 Cell Line | EDJ-KQ15227 | Human | 346288 | Details Get a Quote |
| SEPTIN14 Knockout HeLa Cell Line | EDJ-KQ59797 | Human | 346288 | Details Get a Quote |
| SEPTIN14 Knockout A-549 Cell Line | EDJ-KQ68265 | Human | 346288 | Details Get a Quote |
| SEPTIN14 Knockout HCT 116 Cell Line | EDJ-KQ76641 | Human | 346288 | Details Get a Quote |
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