SPEF2: Sperm Flagellar Protein 2
Essential for sperm motility and ciliary function
Gene Information Card
| Symbol | SPEF2 |
|---|---|
| Full Name | Sperm Flagellar Protein 2 |
| Gene Type | Protein coding |
| Chromosomal Location | 5p13.2 |
| NCBI Gene ID | 79925 ncbi.nlm.nih.gov/gene/79925 |
| Ensembl ID | ENSG00000152457 |
| UniProt ID | Q9C093 |
| OMIM ID | 610172 |
| HGNC ID | 26293 |
| Aliases | CT149, KPL2, NYD-SP27, SPGF43 |
Description
SPEF2 encodes a protein localized to the sperm flagellum and cilia, essential for axonemal assembly and motility. It is involved in spermatogenesis and ciliary function. Mutations in SPEF2 cause primary ciliary dyskinesia (PCD) and male infertility due to sperm flagellar defects.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Primary ciliary dyskinesia (PCD) | Loss-of-function mutations disrupt axonemal structure, impairing mucociliary clearance and sperm motility. | ClinVar, OMIM |
| Male infertility (spermatogenic failure) | Defects in SPEF2 cause abnormal sperm flagellar morphology and asthenozoospermia. | OMIM, NCBI |
| Situs inversus (in some PCD cases) | Impaired nodal cilia function during embryogenesis leads to left-right asymmetry defects. | OMIM |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 28.5 | High |
| Fallopian tube | 10.2 | Medium |
| Lung | 6.8 | Medium |
| Brain | 2.1 | Low |
| Heart | 1.5 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| Sperm cells | N/A | High expression in flagellum |
| Ciliated epithelial cells (airway) | N/A | Expressed in cilia |
| HEK293 | 0.8 | Low |
| HeLa | 0.5 | Low |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1354C>T (p.Arg452*) | Nonsense | Rare | Loss of function; associated with PCD |
| c.2023_2024del (p.Leu675fs) | Frameshift | Rare | Loss of function; causes male infertility |
| c.2860G>A (p.Gly954Arg) | Missense | Rare | Likely damaging; disrupts protein function |
Mutation functional classification
Loss of Function (LOF)
Nonsense, frameshift, and splice-site mutations leading to truncated or absent protein; cause PCD and infertility.
Gain of Function (GOF)
Not reported.
Dominant Negative (DN)
Not reported.
View complete mutation data：
Gene Ontology (GO)
Pathways
• Cilium assembly and maintenance
• Spermatogenesis
• Axoneme structure
Protein Summary
SPEF2 is a 1,316-amino-acid protein containing a calponin homology domain and coiled-coil regions. It localizes to the sperm flagellum and ciliary axoneme, interacting with microtubules and actin to support structural integrity and motility. The protein is critical for spermatid elongation and ciliary beat frequency.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| SPEF2 Knockout HEK293 Cell Line | EDJ-KQ11967 | Human | 79925 | Details Get a Quote |
| SPEF2 Knockout HCT 116 Cell Line | EDJ-KQ39271 | Human | 79925 | Details Get a Quote |
| SPEF2 Knockout A-549 Cell Line | EDJ-KQ40519 | Human | 79925 | Details Get a Quote |
| SPEF2 Knockout HeLa Cell Line | EDJ-KQ40521 | Human | 79925 | Details Get a Quote |
