CATSPER2
  • 30
    Haplo
    Score
  • 0
    Triplo
    Score

Gene Facts External Data Attribution

HGNC Symbol
CATSPER2 (HGNC:18810) HGNC Entrez Ensembl OMIM UCSC Uniprot GeneReviews LOVD LSDB ClinVar
HGNC Name
cation channel sperm associated 2
Gene type
protein-coding gene
Locus type
gene with protein product
Previous symbols
No previous names found
Alias symbols
No aliases found
%HI
73.76(Read more about the DECIPHER Haploinsufficiency Index)
pLI
0(Read more about gnomAD pLI score)
LOEUF
1.05(Read more about gnomAD LOEUF score)
Cytoband
15q15.3
Genomic Coordinates
GRCh37/hg19: chr15:43920701-43941082 NCBI Ensembl UCSC
GRCh38/hg38: chr15:43628503-43648884 NCBI Ensembl UCSC
MANE Select Transcript
NM_172095.4 ENST00000396879.8 (Read more about MANE Select)
Function
Voltage-gated calcium channel that plays a central role in calcium-dependent physiological responses essential for successful fertilization, such as sperm hyperactivation, acrosome reaction and chemotaxis towards the oocyte. {ECO:0000269|PubMed:21412338, ECO:0000269|PubMed:21412339}. (Source: Uniprot)

Dosage Sensitivity Summary (Gene)

Dosage ID:
ISCA-9627
ClinGen Curation ID:
CCID:006792
Curation Status:
Complete
Issue Type:
Dosage Curation - Gene
Haploinsufficiency:
Gene Associated with Autosomal Recessive Phenotype (30)
Read full report...
Triplosensitivity:
No Evidence for Triplosensitivity (0)
Read full report...
Last Evaluated:
09/20/2012

Haploinsufficiency (HI) Score Details

HI Score:
30
HI Evidence Strength:
Gene Associated with Autosomal Recessive Phenotype (Disclaimer)
HI Evidence Comments:
Per GeneReviews: "Deafness-infertility syndrome (DIS) is caused by an autosomal recessive contiguous gene deletion at chromosome 15q15.3 including the genes CATSPER2 and STRC (Stereocilin). In all cases of DIS resulting from the CATSPER2-STRC deletion, the entire CATSPER2 gene is deleted [Avidan et al 2003, Zhang et al 2007]. It is unclear whether nonsense or missense mutations in CATSPER2 would lead to a nonsyndromic male infertility phenotype". It is generally well accepted that loss of STRC causes the deafness phenotype and loss of CATSPER2 causes the male infertility phenotype.

Triplosensitivity (TS) Score Details

TS Score:
0
TS Evidence Strength:
No Evidence for Triplosensitivity (Disclaimer)

Genomic View

Select assembly: (NC_000015.9) (NC_000015.10)