CATSPERG

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

Basic information

Region (hg38): 19:38335775-38370943

Previous symbols: [ "C19orf15" ]

Links

ENSG00000099338 ∙ NCBI:57828 ∙ OMIM:613452 ∙ HGNC:25243 ∙ Uniprot:Q6ZRH7 ∙ 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 CATSPERG gene.

• not_specified (147 variants)
• not_provided (1 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the CATSPERG gene is commonly pathogenic or not. These statistics are base on transcript: NM_000021185.5. 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						0
missense			137	11		148
nonsense						0
start loss						0
frameshift						0
splice donor/acceptor (+/-2bp)						0
Total	0	0	137	11	0

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
CATSPERG	protein_coding	protein_coding	ENST00000409235	28	35175

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
8.50e-21	0.925	125507	1	240	125748	0.000959

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	1.38	561	661	0.849	0.0000363	7643
Missense in Polyphen		43	55.679	0.77228		497
Synonymous	0.149	273	276	0.989	0.0000164	2171
Loss of Function	2.49	42	63.4	0.663	0.00000284	707

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.00175	0.00174
Ashkenazi Jewish	0.00	0.00
East Asian	0.000546	0.000544
Finnish	0.000601	0.000601
European (Non-Finnish)	0.00133	0.00129
Middle Eastern	0.000546	0.000544
South Asian	0.000556	0.000555
Other	0.00199	0.00196

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:C6KI89}.
• Pathway: Fertilization;Reproduction;Sperm Motility And Taxes (Consensus)

Intolerance Scores

• loftool: 0.933
• rvis_EVS: -0.66
• rvis_percentile_EVS: 16.09

Haploinsufficiency Scores

• pHI: 0.218
• hipred: N
• hipred_score: 0.210
• ghis: 0.467

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: N
• gene_indispensability_score: 0.471

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Catsperg2

Gene ontology

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