CATSPERD
Cation Channel Sperm Associated Auxiliary Subunit Delta
Gene Information Card
| Symbol | CATSPERD |
|---|---|
| Full Name | Cation Channel Sperm Associated Auxiliary Subunit Delta |
| Gene Type | protein-coding |
| Chromosomal Location | 19p13.3 |
| NCBI Gene ID | 257062 ncbi.nlm.nih.gov/gene/257062 |
| Ensembl ID | ENSG00000167601 |
| UniProt ID | Q86XQ3 |
| OMIM ID | 611387 |
| HGNC ID | 33816 |
| Aliases | CATSPER4, C19orf58, dJ1009E23.1 |
Description
CATSPERD encodes a delta 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 gating and trafficking.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Asthenozoospermia | Loss-of-function mutations in CATSPERD impair CATSPER channel activity, reducing sperm motility and hyperactivation. | ClinVar, OMIM |
| Male infertility | Defects in CATSPERD disrupt calcium influx required for flagellar beating, leading to failed fertilization. | NCBI Gene, 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 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.124C>T (p.Arg42*) | Nonsense | Rare | Loss of function; truncation of delta subunit |
| c.487G>A (p.Gly163Arg) | Missense | Rare | Impaired channel assembly and reduced calcium current |
Mutation functional classification
Loss of Function (LOF)
Nonsense and missense mutations that disrupt CATSPERD expression or channel assembly lead to loss of CATSPER channel function.
Gain of Function (GOF)
No gain-of-function mutations reported.
Dominant Negative (DN)
Not described for CATSPERD.
View complete mutation data：
Gene Ontology (GO)
| • voltage-gated calcium channel activity | • sperm motility |
| • calcium ion transport | • flagellum |
| • plasma membrane |
Pathways
• Sperm hyperactivation
• Calcium signaling
Protein Summary
CATSPERD is a 285-amino-acid auxiliary subunit of the sperm-specific CATSPER calcium channel. It contains a single transmembrane domain and is required for proper channel expression and function in the sperm flagellum. The protein interacts with other CATSPER subunits (CATSPER1-4) to mediate calcium influx essential for hyperactivated motility and fertilization.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| CATSPERD Knockout HEK293 Cell Line | EDJ-KQ11857 | Human | 257062 | Details Get a Quote |
| CATSPERD Knockout HeLa Cell Line | EDJ-KQ59317 | Human | 257062 | Details Get a Quote |
| CATSPERD Knockout A-549 Cell Line | EDJ-KQ67783 | Human | 257062 | Details Get a Quote |
| CATSPERD Knockout HCT 116 Cell Line | EDJ-KQ76166 | Human | 257062 | Details Get a Quote |
Displaying Records 1 To 4 Of 4 Records
