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GeneE
10 sources retrieved Β· Most recent: April 2026 Β· Index updated 14 days ago
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CATSPER2
cation channel sperm associated 2
Chromosome 15 Β· 15q15.3
NCBI Gene: 117155Ensembl: ENSG00000166762.19HGNC: HGNC:18810UniProt: F8W9H2
30PubMed Papers
21Diseases
0Drugs
2Pathogenic Variants
FUNCTIONAL ROLE
Ion ChannelTransporter
CLINICAL
OMIM Disease Gene
DATA QUALITY
βœ“ Experimental GO Evidenceβœ“ Swiss-Prot Reviewed
sperm principal piecevoltage-gated calcium channel activitycalcium ion transportprotein bindingdeafness-infertility syndromehearing loss, autosomal recessiveRare genetic deafnessinfertility
✦AI Summary

CATSPER2 encodes the pore-forming subunit of the CatSper complex, a sperm-specific voltage-gated calcium channel essential for male fertility 1. The channel functions as a polymodal chemosensory calcium channel that orchestrates critical physiological events required for successful fertilization, including sperm hyperactivation, capacitation, acrosome reaction, and chemotaxis toward the oocyte 1. CATSPER2 expression is restricted to spermatozoa, with protein localization in the sperm principal piece 1. CATSPER2 mutations and deletions directly impair male fertility through loss of sperm motility and function. Homozygous CATSPER2 deletions cause asthenoteratozoospermia (abnormal sperm morphology and motility), representing the first human autosomal gene defect associated with nonsyndromic male infertility 2. Deletions spanning the STRC-CATSPER2 region on chromosome 15.3 cause deafness-infertility syndrome, combining hearing loss with male infertility due to impaired sperm motility 34. Recent molecular studies identified missense variants in CATSPER2 in unexplained infertility patients 5, and demonstrated that cryopreservation reduces CATSPER2 expression and protein levels, correlating with sperm motility loss 6. Hormonal interventions (HCG) can upregulate CATSPER2 expression and improve sperm quality 7, suggesting therapeutic potential for male infertility management.

Sources cited
1
CATSPER2 is the pore-forming subunit of a sperm-specific voltage-gated calcium channel that acts as a polymodal chemosensory channel regulating sperm hyperactivation, capacitation, acrosome reaction, and chemotaxis
PMID: 25457194
2
Homozygous CATSPER2 deletion causes asthenoteratozoospermia and is the first human autosomal gene defect associated with nonsyndromic male infertility
PMID: 12825070
3
STRC-CATSPER2 deletions cause deafness-infertility syndrome with male infertility due to impaired sperm motility
PMID: 35022556
4
Complex structural rearrangements including CATSPER2 deletions demonstrate the gene's involvement in inherited male infertility
PMID: 39645194
5
Missense variants in CATSPER2 are detected in unexplained infertility patients
PMID: 40005388
6
Cryopreservation reduces CATSPER2 expression and protein levels, correlating with sperm motility loss
PMID: 31463202
7
HCG treatment upregulates CATSPER2 expression and improves sperm quality
PMID: 31041823
Disease Associationsβ“˜21
deafness-infertility syndromeOpen Targets
0.39Weak
hearing loss, autosomal recessiveOpen Targets
0.36Weak
Rare genetic deafnessOpen Targets
0.34Weak
infertilityOpen Targets
0.11Weak
male infertilityOpen Targets
0.11Weak
azoospermiaOpen Targets
0.10Suggestive
spermatogenic failure 3Open Targets
0.09Suggestive
spermatogenic failure 55Open Targets
0.09Suggestive
Male infertility with spermatogenesis disorder due to single gene mutationOpen Targets
0.09Suggestive
Rare genetic female infertilityOpen Targets
0.09Suggestive
spermatogenic failure 83Open Targets
0.09Suggestive
spermatogenic failure 7Open Targets
0.08Suggestive
mathematical abilityOpen Targets
0.08Suggestive
Female infertility due to fertilization defectOpen Targets
0.08Suggestive
spermatogenic failure 16Open Targets
0.08Suggestive
spermatogenic failure 21Open Targets
0.08Suggestive
spermatogenic failure 29Open Targets
0.08Suggestive
spermatogenic failure 79Open Targets
0.08Suggestive
spermatogenic failure 58Open Targets
0.08Suggestive
spermatogenic failure 11Open Targets
0.08Suggestive
Deafness-infertility syndromeUniProt
Pathogenic Variants2
NC_000015.10:g.(?_43638998)_(43639062_?)delPathogenic
Rare genetic deafness;Deafness-infertility syndrome
β˜…β˜†β˜†β˜†2018
NM_172095.1(CATSPER2):c.(?_718-34)_(843-857_?)delPathogenic
Rare genetic deafness
β˜…β˜†β˜†β˜†2014
View on ClinVar β†—
Related Genes
CACNA1DProtein interaction96%CKMT1BProtein interaction95%PPIP5K1Protein interaction95%CACNA1FProtein interaction93%CACNA1SProtein interaction92%CACNA1CProtein interaction91%
Tissue Expression6 tissues
Ovary
100%
Bone Marrow
65%
Liver
54%
Brain
43%
Lung
31%
Heart
19%
Gene Interaction Network
Click a node to explore
CATSPER2CACNA1DCKMT1BPPIP5K1CACNA1FCACNA1SCACNA1C
PROTEIN STRUCTURE
Preparing viewer…
AlphaFoldAI-predicted Β· UniProt Q96P56
View on AlphaFold β†—
Constraintβ“˜
LOEUFβ“˜
1.05LoF Tolerant
pLIβ“˜
0.00Tolerant
Observed/Expected LoF0.83 [0.67–1.05]
RankingsWhere CATSPER2 stands among ~20K protein-coding genes
  • #11,870of 20,598
    Most Researched30
  • #4,515of 5,498
    Most Pathogenic Variants2
  • #10,462of 17,882
    Most Constrained (LOEUF)1.05
Genes detectedCATSPER2
Sources retrieved10 papers
Response timeβ€”
πŸ“„ Sources
10β–Ό
1
Influence of cryopreservation on the
PMID: 31463202
Toxicol Rep Β· 2019
1.00
2
The effect of clomiphene citrate and human chorionic gonadotropin on the expression of CatSper1, CatSper2, LHCGR, and SF1 genes, as well as the structural changes in testicular tissue of adult rats.
PMID: 31041823
Mol Reprod Dev Β· 2019
0.90
3
CATSPER2, a human autosomal nonsyndromic male infertility gene.
PMID: 12825070
Eur J Hum Genet Β· 2003
0.80
4
Frequency of the STRC-CATSPER2 deletion in STRC-associated hearing loss patients.
PMID: 35022556
Sci Rep Β· 2022
0.70
5
Improved variant detection using long-read sequencing and optical mapping: Illustration in STRC-related hearing loss.
PMID: 39645194
Eur J Med Genet Β· 2025
0.60