CATSPERB

protein-coding

cation channel sperm associated auxiliary subunit beta, the group of Cation channels sperm associated

Gene summary

Predicted to be involved in flagellated sperm motility and sperm capacitation. Predicted to be located in sperm principal piece. Predicted to be part of CatSper complex. Predicted to be active in cilium. [provided by Alliance of Genome Resources, Jun 2026]

Previous symbols:

C14orf161

MANE transcript

NM_024764.4

Inheritance

—

ClinVar variants

P:1U:126B:14

Top phenotype

Male infertility

gnomAD constraint

pLI —, LoF o/e 0.66

Max pathogenic AF

—

Genomic locus

chr14:91,580,696-91,780,707

External References & Databases

Ensembl (ENSG00000133962)

Transcript & Mutation Effects

hg38 • Region Span ~200.0 kb

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GenCC Phenotypes & Disease Associations

Curated gene-disease validity assertions and inheritance patterns

No GenCC data available for this gene.

ClinVar Associated Diseases & Phenotypes

Reported disease conditions connected to CATSPERB variants in ClinVar

3 Conditions Cataloged

not specifiedTotal: 136

not providedTotal: 2

Male infertilityTotal: 1

ClinVar Variants & Pathogenicity by Type

Statistics based on transcript NM_024764.4. Only rare variants are included.

We include only reliable ClinVar variants with their consequences to MANE Select, MANE Plus Clinical transcripts, or transcripts with TSL equal to 1. Click a count to filter the variants table below.

Slight differences between displayed counts and ClinVar may occur due to a different transcript/consequence chosen by our variant effect predictor, or because we classify Benign/Likely benign as Likely benign and Pathogenic/Likely pathogenic as Likely pathogenic.

Effect	PathogenicP	Likely pathogenicLP	VUS	Likely benignLB	BenignB	Sum
synonymous				1 clinvar		1
missense	1 clinvar		125 clinvar	13 clinvar		139
nonsense			1 clinvar			1
start loss						0
frameshift						0
splice donor/acceptor (+/-2bp)						0
Total	1	0	126	14	0	141

Highest pathogenic variant AF is 0.0006697463

Loading ClinVar variants...

Transcript Catalog

Annotated transcript isoforms across RefSeq and Ensembl databases

Showing 4 of 7 transcripts

Transcript ID	Source	Protein ID	Coding Exons	MANE Status
NM_024764.4	RefSeq	NP_079040.2	26	MANE Select
ENST00000256343.8	Ensembl	ENSP00000256343.3	26	MANE Select
ENST00000553329.5	Ensembl	ENSP00000450878.1	5	Standard
ENST00000553676.1	Ensembl	ENSP00000451047.1	3	Standard

Gene Ontology (GO) Annotations & Pathways

Biological processes, molecular functions, cellular components and pathways

Pathways ConsensusPathDB

Fertilization
Reproduction
Sperm Motility And Taxes

Biological Process

multicellular organism development
spermatogenesis
cell differentiation
sperm-egg recognition

Cellular Component

plasma membrane
cilium
CatSper complex

gnomAD Constraint

Source: gnomAD

Gene type: protein_coding
Transcript type: protein_coding
Transcript: ENST00000256343
Coding exons: 26
Length: 200012
Individuals with no LoFs: 125672
Homozygous LoFs: 0
Heterozygous LoFs: 75
Defined: 125747
p: 0.000298

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible
Missense	1.34	487	578	0.843	0.0000291	7347
Missense (PolyPhen)		129	176.42	0.7312		2224
Synonymous	1.26	180	203	0.888	0.0000106	2048
Loss of Function	2.36	36	54.8	0.657	0.00000263	736

Population LoF Frequency

Population	CAF	p-value	Status
African	0.00043	0.00043	rare
Latino/Admixed American	0.00031	0.00029	rare
Ashkenazi Jewish	0.000099	0.000099	rare
East Asian	0.000055	0.000054	rare
Finnish	0.000046	0.000046	rare
European (Non-Finnish)	0.00038	0.00037	rare
South Asian	0.00043	0.00039	rare
Other	0.00018	0.00016	rare

dbNSFP Gene Annotations

Source: dbNSFP

Function: FUNCTION: Probably involved in sperm cell hyperactivation via its association with CATSPER1. Sperm cell hyperactivation is needed for sperm motility which is essential late in the preparation of sperm for fertilization. {ECO:0000250|UniProtKB:A2RTF1}.;

Recessive Scores

pRec: 0.0592

Intolerance Scores

RVIS EVS: -0.79
RVIS percentile EVS: 12.57

Essentials

Essential (CRISPR): N
Essential (CRISPR2): N
Essential (gene trap): N
Indispensability pred.: N
Indispensability score: 0.0449

Gene Damage Prediction

	All	Recessive	Dominant
Mendelian	Medium	Medium	Medium
Primary Immunodeficiency	Medium	Medium	Medium
Cancer	Medium	Medium	Medium