CATSPERB

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

Basic information

Region (hg38): 14:91580696-91780707

Previous symbols: [ "C14orf161" ]

Links

ENSG00000133962 ∙ NCBI:79820 ∙ OMIM:611169 ∙ HGNC:20500 ∙ Uniprot:Q9H7T0 ∙ AlphaFold ∙ GenCC ∙ jax ∙ Sfari ∙ GnomAD ∙ Pubmed ∙ ClinVar

Phenotypes

GenCC

Source: genCC

No genCC data.

ClinVar

This is a list of variants' phenotypes submitted to ClinVar and linked to the CATSPERB gene.

• not_specified (121 variants)
• not_provided (1 variants)
• Male_infertility (1 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the CATSPERB gene is commonly pathogenic or not. These statistics are base on transcript: NM_000024764.4. Only rare variants are included in the table.

In the table, we include only reliable ClinVar variants with their consequences to MANE Select, Mane Plus Clinical transcripts, or transcripts with TSL equals 1. Click the count to view the source variants.

Warning: slight differences between displayed counts and the number of variants in ClinVar may occur, primarily due to (1) the application of a different transcript and/or consequence by our variant effect predictor or (2) differences in clinical significance: we classify Benign/Likely benign variants as Likely benign and Pathogenic/Likely pathogenic variants as Likely pathogenic.

Effect	Pathogenic	Likely pathogenic	VUS	Likely benign	Benign	Sum
synonymous				1		1
missense	1		110	11		122
nonsense						0
start loss						0
frameshift						0
splice donor/acceptor (+/-2bp)						0
Total	1	0	110	12	0

Highest pathogenic variant AF is 0.0006697463

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
CATSPERB	protein_coding	protein_coding	ENST00000256343	26	200012

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
6.88e-18	0.927	125672	0	75	125747	0.000298

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	1.34	487	578	0.843	0.0000291	7347
Missense in 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

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.000741	0.000738
Ashkenazi Jewish	0.0000993	0.0000992
East Asian	0.0000546	0.0000544
Finnish	0.0000463	0.0000462
European (Non-Finnish)	0.000377	0.000369
Middle Eastern	0.0000546	0.0000544
South Asian	0.000426	0.000392
Other	0.000178	0.000163

dbNSFP

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}.
• Pathway: Fertilization;Reproduction;Sperm Motility And Taxes (Consensus)

Recessive Scores

• pRec: 0.0592

Intolerance Scores

• rvis_EVS: -0.79
• rvis_percentile_EVS: 12.57

Haploinsufficiency Scores

• pHI: 0.0487
• hipred: N
• hipred_score: 0.203
• ghis: 0.413

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: N
• gene_indispensability_score: 0.0449

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Catsperb

Gene ontology

• Biological process: multicellular organism development;spermatogenesis;cell differentiation;sperm-egg recognition
• Cellular component: plasma membrane;cilium;CatSper complex