CATSPER4
Cation Channel Sperm Associated 4
Gene Information Card
| Symbol | CATSPER4 |
|---|---|
| Full Name | Cation Channel Sperm Associated 4 |
| Gene Type | Protein coding |
| Chromosomal Location | 1p36.31 |
| NCBI Gene ID | 378807 ncbi.nlm.nih.gov/gene/378807 |
| Ensembl ID | ENSG00000188107 |
| UniProt ID | Q6P0Q8 |
| OMIM ID | 609121 |
| HGNC ID | 23218 |
| Aliases | CATSPER4, CatSper4, CatSper-4 |
Description
CATSPER4 encodes a subunit of the CatSper calcium channel complex, which is essential for sperm hyperactivation and male fertility. The channel is sperm-specific and localized to the flagellum, mediating calcium influx required for motility.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Male infertility with asthenozoospermia | Loss-of-function mutations impair calcium influx, reducing sperm motility | ClinVar, OMIM |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 0.0 | Not detected (nTPM data not available for CATSPER4 in GTEx) |
| Sperm | N/A | High (protein level) |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| Sperm cells | N/A | High expression in flagellum |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.539G>A (p.Arg180His) | Missense | Rare | Likely damaging to channel function |
| c.1A>G (p.Met1?) | Start loss | Rare | Loss of protein expression |
Mutation functional classification
Loss of Function (LOF)
Missense and truncating mutations reduce or abolish calcium channel activity, leading to asthenozoospermia.
Gain of Function (GOF)
Not reported.
Dominant Negative (DN)
Not reported.
View complete mutation data：
Gene Ontology (GO)
| • GO:0005245 (GO:0005245) | • GO:0005886 (GO:0005886) |
| • GO:0036126 (GO:0036126) | • GO:0006816 (GO:0006816) |
| • GO:0007283 (GO:0007283) |
Pathways
• Sperm motility
• Calcium signaling
Protein Summary
CATSPER4 is a 4-transmembrane domain protein that forms part of the CatSper channel complex. It is essential for calcium-dependent sperm hyperactivation and male fertility.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| CATSPER4 Knockout HEK293 Cell Line | EDJ-KQ12738 | Human | 378807 | Details Get a Quote |
| CATSPER4 Knockout HeLa Cell Line | EDJ-KQ59944 | Human | 378807 | Details Get a Quote |
| CATSPER4 Knockout A-549 Cell Line | EDJ-KQ68405 | Human | 378807 | Details Get a Quote |
| CATSPER4 Knockout HCT 116 Cell Line | EDJ-KQ76783 | Human | 378807 | Details Get a Quote |
