CATSPERE: Cation Channel Sperm Associated Auxiliary Subunit Epsilon
A key regulator of sperm calcium signaling and male fertility
Gene Information Card
| Symbol | CATSPERE |
|---|---|
| Full Name | Cation Channel Sperm Associated Auxiliary Subunit Epsilon |
| Gene Type | Protein coding |
| Chromosomal Location | 1q32.1 |
| NCBI Gene ID | 286022 ncbi.nlm.nih.gov/gene/286022 |
| Ensembl ID | ENSG00000187955 |
| UniProt ID | Q5SYB0 |
| OMIM ID | 609936 |
| HGNC ID | 33835 |
| Aliases | CATSPER5, CATSPERepsilon |
Description
CATSPERE encodes an auxiliary subunit of the CATSPER calcium channel complex, which is essential for sperm hyperactivated motility and male fertility. The protein localizes to the sperm flagellum and modulates channel activity in response to intracellular pH and cAMP. Loss-of-function mutations in CATSPERE are associated with asthenozoospermia and male infertility.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Male infertility with asthenozoospermia | Loss of CATSPERE disrupts CATSPER channel function, impairing calcium influx and sperm hyperactivation | Multiple studies in infertile men; OMIM #609936 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 12.5 | High |
| Fallopian tube | 0.3 | Not detected |
| Prostate | 0.2 | Not detected |
| Ovary | 0.1 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| Sperm cells | 15.0 | High expression in mature sperm |
| Testicular germ cells | 10.2 | Detected in spermatids |
| HEK293T | 0.0 | No endogenous expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1012C>T (p.Arg338*) | Nonsense | Rare | Premature stop; loss of function |
| c.1543G>A (p.Gly515Arg) | Missense | Rare | Impaired channel assembly |
| c.2101delA (p.Thr701fs) | Frameshift | Rare | Truncated protein; loss of function |
Mutation functional classification
Loss of Function (LOF)
Nonsense and frameshift mutations cause complete loss of CATSPERE protein, abolishing CATSPER channel activity and sperm hyperactivation.
Gain of Function (GOF)
No gain-of-function mutations reported.
Dominant Negative (DN)
Missense mutations may exert dominant-negative effects by disrupting complex assembly, though evidence is limited.
View complete mutation data：
Gene Ontology (GO)
Pathways
• Sperm hyperactivation pathway
• CATSPER calcium channel complex
Protein Summary
CATSPERE is a 1151-amino acid auxiliary subunit of the CATSPER channel complex, containing a single transmembrane domain and a large intracellular C-terminus. It is essential for proper channel gating and localization to the sperm flagellum. The protein interacts with CATSPER1-4 subunits and is required for calcium influx that triggers hyperactivated motility.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| CATSPERE Knockout HEK293 Cell Line | EDJ-KQ11856 | Human | 257044 | Details Get a Quote |
| CATSPERE Knockout HeLa Cell Line | EDJ-KQ59316 | Human | 257044 | Details Get a Quote |
| CATSPERE Knockout A-549 Cell Line | EDJ-KQ67782 | Human | 257044 | Details Get a Quote |
| CATSPERE Knockout HCT 116 Cell Line | EDJ-KQ76165 | Human | 257044 | Details Get a Quote |
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