CATSPERG: Cation Channel Sperm Associated Auxiliary Subunit Gamma
Essential regulator of sperm hyperactivation and male fertility
Gene Information Card
| Symbol | CATSPERG |
|---|---|
| Full Name | Cation Channel Sperm Associated Auxiliary Subunit Gamma |
| Gene Type | Protein coding |
| Chromosomal Location | 19q13.33 |
| NCBI Gene ID | 83903 ncbi.nlm.nih.gov/gene/83903 |
| Ensembl ID | ENSG00000105699 |
| UniProt ID | Q9H4B4 |
| OMIM ID | 612741 |
| HGNC ID | 26219 |
| Aliases | CATSPER3, CATSPERgamma, FLJ23588 |
Description
CATSPERG encodes the gamma 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 gating. Loss-of-function mutations cause asthenozoospermia and male infertility.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Male infertility due to sperm motility disorder | Loss-of-function mutations in CATSPERG impair CATSPER channel activity, preventing calcium influx required for flagellar hyperactivation | ClinVar, OMIM |
| Asthenozoospermia | Biallelic pathogenic variants disrupt protein function, leading to reduced sperm progressive motility | NCBI Gene, OMIM |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 12.5 | Medium |
| 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 | N/A | High expression in flagellum |
| Testicular tissue (Leydig cells) | N/A | Low 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.1435G>A (p.Gly479Arg) | Missense | Rare | Impaired channel assembly |
| c.1A>G (p.Met1?) | Start loss | Rare | No protein translation |
Mutation functional classification
Loss of Function (LOF)
Nonsense, frameshift, and start-loss variants that abolish protein expression or disrupt channel complex formation.
Gain of Function (GOF)
Not reported for CATSPERG.
Dominant Negative (DN)
Not reported; all pathogenic variants are recessive.
View complete mutation data：
Gene Ontology (GO)
Pathways
• Sperm hyperactivation (CATSPER calcium channel complex)
• Ion transport by voltage-gated calcium channels
Protein Summary
CATSPERG is a 1156-amino acid auxiliary subunit of the CATSPER channel complex, containing a single transmembrane domain and a large extracellular N-terminus. It is expressed exclusively in the testis and localizes to the principal piece of the sperm flagellum. The protein is required for proper channel trafficking and calcium-dependent hyperactivated motility.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| CATSPERG Knockout HEK293 Cell Line | EDJ-KQ12740 | Human | 57828 | Details Get a Quote |
| CATSPERG Knockout A-549 Cell Line | EDJ-KQ41841 | Human | 57828 | Details Get a Quote |
| CATSPERG Knockout HCT 116 Cell Line | EDJ-KQ41842 | Human | 57828 | Details Get a Quote |
| CATSPERG Knockout HeLa Cell Line | EDJ-KQ56924 | Human | 57828 | Details Get a Quote |
