SEPTIN12
A member of the septin family involved in spermatogenesis and male fertility
Gene Information Card
| Symbol | SEPTIN12 |
|---|---|
| Full Name | septin 12 |
| Gene Type | protein-coding |
| Chromosomal Location | 16p13.3 |
| NCBI Gene ID | 124404 ncbi.nlm.nih.gov/gene/124404 |
| Ensembl ID | ENSG00000140623 |
| UniProt ID | Q8IYM1 |
| OMIM ID | 611562 |
| HGNC ID | 25510 |
| Aliases | SEPT12, SEPTIN12, septin 12 |
Description
SEPTIN12 encodes a member of the septin family of GTP-binding proteins, which are involved in cytokinesis, cell polarity, and cytoskeletal organization. This gene is predominantly expressed in the testis and is critical for spermatogenesis, particularly for sperm head and tail formation. Mutations in SEPTIN12 are associated with male infertility due to spermatogenic failure.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Spermatogenic failure 10 (SPGF10) | Loss-of-function mutations impair septin filament assembly, disrupting sperm morphogenesis | OMIM #611562; ClinVar |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 28.5 | High |
| Fallopian tube | 1.2 | Low |
| Prostate | 0.8 | Low |
| Other tissues | <0.5 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| Sperm cells | N/A | High expression in mature sperm |
| Testicular germ cells | N/A | Expressed in spermatocytes and spermatids |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.248G>A (p.Arg83His) | Missense | Rare | Disrupts GTP-binding and filament formation |
| c.472C>T (p.Arg158*) | Nonsense | Rare | Premature truncation, loss of function |
| c.584A>G (p.Tyr195Cys) | Missense | Rare | Impaired septin polymerization |
Mutation functional classification
Loss of Function (LOF)
Nonsense and missense mutations that disrupt GTP-binding or filament assembly lead to loss of septin function, causing spermatogenic failure.
Gain of Function (GOF)
No evidence of gain-of-function mutations.
Dominant Negative (DN)
Some missense variants may exert dominant-negative effects by incorporating into and destabilizing septin filaments.
View complete mutation data：
Gene Ontology (GO)
| • GTP binding (GO:0005525) | • GTPase activity (GO:0003924) |
| • cytoskeleton (GO:0005856) | • septin complex (GO:0031105) |
| • cell division (GO:0051301) | • spermatogenesis (GO:0007283) |
Pathways
• Septin cytoskeleton signaling
• Spermatogenesis
Protein Summary
SEPTIN12 is a 358-amino acid GTP-binding protein that forms hetero-oligomeric septin filaments. It is essential for the structural integrity of the sperm head and flagellum. The protein localizes to the annulus and connecting piece of sperm, and its dysfunction leads to sperm defects and infertility.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| SEPTIN12 Knockout HEK293 Cell Line | EDJ-KQ8540 | Human | 124404 | Details Get a Quote |
| SEPTIN12 Knockout HeLa Cell Line | EDJ-KQ58129 | Human | 124404 | Details Get a Quote |
| SEPTIN12 Knockout A-549 Cell Line | EDJ-KQ66616 | Human | 124404 | Details Get a Quote |
| SEPTIN12 Knockout HCT 116 Cell Line | EDJ-KQ75034 | Human | 124404 | Details Get a Quote |
