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10 sources retrieved · Most recent: April 2026 · Index updated 15 days ago
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CATSPERB
catsper channel auxiliary subunit beta
Chromosome 14 · 14q32.12
NCBI Gene: 79820Ensembl: ENSG00000133962.8HGNC: HGNC:20500UniProt: B3KWW9
13PubMed Papers
0Diseases
0Drugs
1Pathogenic Variants
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
ciliumsperm principal pieceCatSper complexplasma membrane
✦AI Summary

CATSPERB encodes an auxiliary subunit of the CatSper ion channel complex, a sperm-specific calcium channel essential for male fertility. As a component of this heteromultimeric channel complex, CATSPERB functions to facilitate sperm hyperactivation—the vigorous flagellar beating necessary for successful fertilization 1. The CatSper complex, including CATSPERB, evolved early in metazoan development and has undergone rapid evolution with distinct functional constraints on individual domains 1. Beyond its primary reproductive role, CATSPERB appears relevant to broader physiological processes; genome-wide association studies identified CATSPERB SNPs associated with femoral neck bone mineral density in premenopausal women, suggesting pleiotropic effects 2. In pathological contexts, CATSPERB has emerged as a tumor-associated gene. A CATSPERB-TC2N gene fusion generating recurrent neoantigens was identified in thymic carcinoma patients, representing a potential immunotherapy target 3. Additionally, CATSPERB was identified as a functional protein partner of TC2N, an oncogene implicated in multiple cancer types 4. Rare somatic CATSPERB mutations have been detected in serrated polyposis syndrome lesions 5. These findings suggest CATSPERB functions extend beyond sperm biology to cancer-related pathways, though the mechanistic basis of these associations requires further investigation.

Sources cited
1
CATSPERB is an auxiliary subunit of the CatSper ion channel complex essential for sperm hyperactivation and male fertility; the complex evolved early in metazoans and underwent rapid evolution
PMID: 18974790
2
SNPs in CATSPERB on chromosome 14 show association with femoral neck bone mineral density in premenopausal women
PMID: 20164292
3
CATSPERB-TC2N fusion produces recurrent neoantigens in thymic carcinoma patients with potential for immunotherapy
PMID: 34867976
4
CATSPERB is identified as a functional protein partner of TC2N, an oncogene with roles in multiple cancer types
PMID: 33247676
5
Rare somatic CATSPERB mutations were detected in serrated polyps from serrated polyposis syndrome patients
PMID: 29213343
Pathogenic Variants1
NM_024764.4(CATSPERB):c.2126G>A (p.Arg709Gln)Pathogenic
Male infertility
☆☆☆☆2023→ Residue 709
View on ClinVar ↗
Related Genes
CATSPERHShared pathway100%CATSPERQShared pathway100%CACNA1DProtein interaction96%CACNA1SProtein interaction92%CACNA2D4Protein interaction92%CACNG8Protein interaction91%
Tissue Expression

No tissue expression data available for this gene.

Gene Interaction Network
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CATSPERBCATSPERHCATSPERQCACNA1DCACNA1SCACNA2D4CACNG8
PROTEIN STRUCTURE
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AlphaFoldAI-predicted · UniProt Q9H7T0
View on AlphaFold ↗
Constraintⓘ
LOEUFⓘ
0.94LoF Tolerant
pLIⓘ
0.00Tolerant
Observed/Expected LoF0.75 [0.60–0.94]
RankingsWhere CATSPERB stands among ~20K protein-coding genes
  • #16,126of 20,598
    Most Researched13
  • #5,451of 5,498
    Most Pathogenic Variants1
  • #8,680of 17,882
    Most Constrained (LOEUF)0.94
Genes detectedCATSPERB
Sources retrieved10 papers
Response time—
📄 Sources
10▼
1
Pan-Cancer Multiomics Analysis of TC2N Gene Suggests its Important Role(s) in Tumourigenesis of Many Cancers.
PMID: 33247676
Asian Pac J Cancer Prev · 2020
1.00
2
Novel Tumor-Specific Antigens for Immunotherapy Identified From Multi-omics Profiling in Thymic Carcinomas.
PMID: 34867976
Front Immunol · 2021
0.90
3
[Mutation screening for the causative gene in a four-generation Chinese pedigree with progressive cardiac conduction defect].
PMID: 27220576
Zhonghua Xin Xue Guan Bing Za Zhi · 2016
0.80
4
Apocrine glands are bystanders in hidradenitis suppurativa and their involvement is gender specific.
PMID: 32031713
J Eur Acad Dermatol Venereol · 2020
0.70
5
Exome sequencing characterizes the somatic mutation spectrum of early serrated lesions in a patient with serrated polyposis syndrome (SPS).
PMID: 29213343
Hered Cancer Clin Pract · 2017
0.60