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)
Triplosensitivity:
No Evidence for Triplosensitivity
(0)
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)