CATSPERZ
Cation Channel Sperm Associated Auxiliary Subunit Zeta
Gene Information Card
| Symbol | CATSPERZ |
|---|---|
| Full Name | Cation Channel Sperm Associated Auxiliary Subunit Zeta |
| Gene Type | Protein coding |
| Chromosomal Location | 11q13.1 |
| NCBI Gene ID | 286847 ncbi.nlm.nih.gov/gene/286847 |
| Ensembl ID | ENSG00000187772 |
| UniProt ID | Q86XQ3 |
| OMIM ID | 609459 |
| HGNC ID | 33814 |
| Aliases | CATSPER5, CATSPERZETA |
Description
CATSPERZ encodes an auxiliary subunit of the CATSPER calcium channel complex, which is essential for sperm hyperactivation and male fertility. The protein localizes to the sperm flagellum and modulates channel activity. Loss-of-function mutations are associated with asthenozoospermia and male infertility.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Male infertility with asthenozoospermia | Loss-of-function mutations in CATSPERZ disrupt CATSPER channel assembly or function, impairing sperm hyperactivation and motility | ClinVar, OMIM |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 27.8 | High |
| Fallopian tube | 0.2 | Not detected |
| Prostate | 0.1 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| Spermatozoa | N/A | High expression in mature sperm flagellum |
| Testicular germ cells | N/A | Detected in spermatids |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.100C>T (p.Arg34*) | Nonsense | Rare | Premature stop, loss of protein function |
| c.421G>A (p.Gly141Arg) | Missense | Rare | Impaired channel assembly |
Mutation functional classification
Loss of Function (LOF)
Nonsense and frameshift variants leading to truncated protein or nonsense-mediated decay, causing loss of CATSPER channel function.
Gain of Function (GOF)
No gain-of-function mutations reported.
Dominant Negative (DN)
No dominant-negative mutations reported.
View complete mutation data：
Gene Ontology (GO)
| • voltage-gated calcium channel activity | • sperm motility |
| • calcium ion transmembrane transport | • flagellum |
Pathways
• Sperm hyperactivation
• CATSPER signaling pathway
Protein Summary
CATSPERZ is a 25 kDa auxiliary subunit of the CATSPER calcium channel complex. It contains a transmembrane domain and interacts with CATSPER1-4 to form a functional channel. The protein is essential for calcium influx required for sperm hyperactivation and fertilization.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| CATSPERZ Knockout HEK293 Cell Line | EDJ-KQ8271 | Human | 25858 | Details Get a Quote |
| CATSPERZ Knockout A-549 Cell Line | EDJ-KQ32897 | Human | 25858 | Details Get a Quote |
| CATSPERZ Knockout HCT 116 Cell Line | EDJ-KQ34219 | Human | 25858 | Details Get a Quote |
| CATSPERZ Knockout HeLa Cell Line | EDJ-KQ55835 | Human | 25858 | Details Get a Quote |
Displaying Records 1 To 4 Of 4 Records
