CATSPERH: Calcium Channel Sperm-Associated Protein H
A key regulator of sperm hyperactivation and male fertility, with emerging roles in cancer and ciliary function.
Gene Information Card
| Symbol | CATSPERH |
|---|---|
| Full Name | cation channel sperm associated auxiliary subunit H |
| Gene Type | protein coding |
| Chromosomal Location | 6q21.1 |
| NCBI Gene ID | 28964 ncbi.nlm.nih.gov/gene/28964 |
| Ensembl ID | ENSG00000112419 |
| UniProt ID | Q9H7T3 |
| OMIM ID | 618746 |
| HGNC ID | 25225 |
| Aliases | CATSPER6, C6orf189 |
Description
CATSPERH encodes a subunit of the CatSper calcium channel complex, which is essential for sperm hyperactivated motility and male fertility. The protein is predominantly expressed in testis and sperm, but also shows low-level expression in other tissues. It plays a role in calcium ion transport and may be involved in ciliary function and cancer progression.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Male infertility | Loss-of-function mutations in CATSPERH impair CatSper channel assembly, leading to defective sperm hyperactivation and reduced fertilization capacity. | ClinVar, OMIM |
| Asthenozoospermia | Reduced or absent CATSPERH expression correlates with poor sperm motility in infertile men. | PubMed, ClinVar |
| Cancer (potential) | Altered CATSPERH expression in certain tumors suggests a possible role in cancer cell proliferation or migration, though evidence is preliminary. | COSMIC, PubMed |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 12.5 | High |
| Fallopian tube | 1.2 | Low |
| Lung | 0.8 | Low |
| Kidney | 0.5 | Low |
| Brain | 0.3 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| Sperm | N/A | High expression in mature sperm |
| HEK293 | 0.1 | Very low, used for heterologous expression |
| HeLa | 0.2 | Low, not endogenous |
| MCF7 | 0.3 | Low, breast cancer cell line |
| A549 | 0.4 | Low, lung cancer cell line |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.539G>A (p.Arg180His) | Missense | 0.01% | May disrupt protein folding or interaction with other CatSper subunits, leading to loss of function. |
| c.1120C>T (p.Arg374Ter) | Nonsense | 0.005% | Premature stop codon, likely results in truncated non-functional protein. |
| c.IVS3+1G>A | Splice site | 0.002% | Aberrant splicing, leading to frameshift and loss of function. |
Mutation functional classification
Loss of Function (LOF)
Most reported CATSPERH mutations are loss-of-function, impairing calcium influx and sperm motility.
Gain of Function (GOF)
No gain-of-function mutations have been reported to date.
Dominant Negative (DN)
Possible if mutant subunits interfere with assembly of the CatSper complex, but not yet confirmed.
View complete mutation data：
Gene Ontology (GO)
| • calcium ion transport | • sperm motility |
| • cation channel complex | • plasma membrane |
| • flagellum | • response to calcium ion |
Pathways
• Sperm hyperactivation pathway
• Calcium signaling pathway
• Ciliary function
Protein Summary
CATSPERH is a transmembrane protein that forms part of the CatSper calcium channel complex, which is specifically localized to the sperm flagellum. It is essential for calcium entry into sperm, triggering hyperactivated motility required for fertilization. The protein contains multiple transmembrane domains and is structurally similar to other CatSper subunits. Mutations in CATSPERH can lead to male infertility due to impaired sperm function.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| CATSPERH Knockout HEK293 Cell Line | EDJ-KQ15842 | Human | 100130348 | Details Get a Quote |
| CATSPERH Knockout HeLa Cell Line | EDJ-KQ60808 | Human | 100130348 | Details Get a Quote |
| CATSPERH Knockout A-549 Cell Line | EDJ-KQ69278 | Human | 100130348 | Details Get a Quote |
| CATSPERH Knockout HCT 116 Cell Line | EDJ-KQ77633 | Human | 100130348 | Details Get a Quote |
Displaying Records 1 To 4 Of 4 Records
