CATSPERZ

catsper channel auxiliary subunit zeta, the group of Cation channels sperm associated

Basic information

Region (hg38): 11:64300358-64304770

Previous symbols: [ "C11orf20", "TEX40" ]

Links

ENSG00000219435 ∙ NCBI:25858 ∙ OMIM:617511 ∙ HGNC:19231 ∙ Uniprot:Q9NTU4 ∙ 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 CATSPERZ gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the CATSPERZ gene is commonly pathogenic or not.

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.

Variant type	Pathogenic	Likely pathogenic	VUS	Likely benign	Benign	Sum
synonymous						0
missense			15			15
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	15	0	0

Variants in CATSPERZ

This is a list of pathogenic ClinVar variants found in the CATSPERZ region.

You can filter this list by clicking the number of variants in the Variants pathogenicity by type table.

Position	Type	Phenotype	Significance	ClinVar
11-64300667-A-C		not specified	Uncertain significance (Aug 09, 2021)
11-64300711-G-A		not specified	Uncertain significance (Jun 24, 2022)
11-64300807-A-C		not specified	Uncertain significance (Feb 28, 2023)
11-64300823-G-A		not specified	Uncertain significance (Jun 11, 2021)
11-64300823-G-C		not specified	Uncertain significance (Jul 12, 2022)
11-64300846-G-A		not specified	Uncertain significance (Jul 19, 2023)
11-64300859-A-T		not specified	Uncertain significance (Jun 10, 2024)
11-64300976-A-C		not specified	Uncertain significance (Mar 23, 2023)
11-64303496-A-G		not specified	Uncertain significance (Sep 26, 2023)
11-64303515-C-T		not specified	Uncertain significance (Nov 30, 2022)
11-64303818-A-G		not specified	Uncertain significance (Apr 12, 2022)
11-64303836-C-T		not specified	Uncertain significance (Aug 30, 2021)
11-64303837-G-A		not specified	Uncertain significance (Jan 31, 2022)
11-64304560-G-T		not specified	Uncertain significance (Mar 20, 2023)
11-64304624-G-T		not specified	Uncertain significance (Apr 26, 2023)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
CATSPERZ	protein_coding	protein_coding	ENST00000328404	5	4380

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.0201	0.910	113681	0	1	113682	0.00000440

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	0.516	93	108	0.860	0.00000506	1269
Missense in Polyphen		12	19.018	0.63098		237
Synonymous	1.77	31	46.3	0.669	0.00000216	363
Loss of Function	1.54	4	8.99	0.445	4.47e-7	102

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.00	0.00
Ashkenazi Jewish	0.00	0.00
East Asian	0.00	0.00
Finnish	0.00	0.00
European (Non-Finnish)	0.00000981	0.00000981
Middle Eastern	0.00	0.00
South Asian	0.00	0.00
Other	0.00	0.00

dbNSFP

Source: dbNSFP

• Function: FUNCTION: Auxiliary component of the CatSper complex, a complex involved in sperm cell hyperactivation. Sperm cell hyperactivation is needed for sperm motility which is essential late in the preparation of sperm for fertilization. Required for a distribution of the CatSper complex in linear quadrilateral nanodomains along the flagellum, maximizing fertilization inside the mammalian female reproductive tract. {ECO:0000250|UniProtKB:Q9CQP8}.

Haploinsufficiency Scores

• hipred: N
• hipred_score: 0.254

Mouse Genome Informatics

• Gene name: Catsperz
• Phenotype: reproductive system phenotype; mortality/aging (the observable characteristics related to the ability of a mammalian organism to live and age that are manifested throughout development and life span)

Gene ontology

• Biological process: male meiotic nuclear division;spermatogenesis;flagellated sperm motility;sperm capacitation
• Cellular component: cytoplasm;CatSper complex;sperm principal piece