• 0
    Haplo
    Score
  • 0
    Triplo
    Score

Gene Facts External Data Attribution

HGNC Symbol
CADPS2 (HGNC:16018) HGNC Entrez Ensembl OMIM UCSC Uniprot GeneReviews LOVD LSDB ClinVar
HGNC Name
calcium dependent secretion activator 2
Gene type
protein-coding gene
Locus type
gene with protein product
Previous symbols
No previous names found
Alias symbols
CAPS2
%HI
4.53(Read more about the DECIPHER Haploinsufficiency Index)
pLI
0.37(Read more about gnomAD pLI score)
LOEUF
0.34(Read more about gnomAD LOEUF score)
Cytoband
7q31.32
Genomic Coordinates
GRCh37/hg19: chr7:121958465-122526514 NCBI Ensembl UCSC
GRCh38/hg38: chr7:122318411-122886460 NCBI Ensembl UCSC
MANE Select Transcript
NM_017954.11 ENST00000449022.7 (Read more about MANE Select)
Function
Calcium-binding protein involved in exocytosis of vesicles filled with neurotransmitters and neuropeptides. Probably acts upstream of fusion in the biogenesis or maintenance of mature secretory vesicles. Regulates neurotrophin release from granule cells leading to regulate cell differentiation and survival during cerebellar development. May specifically mediate the Ca(2+)-dependent exocytosis of large dense-core vesicles (DCVs) and other dense-core vesicles (By similarity). {ECO:0000250}. (Source: Uniprot)

Dosage Sensitivity Summary (Gene)

Dosage ID:
ISCA-10929
Curation Status:
Complete
Issue Type:
Dosage Curation - Gene
Haploinsufficiency:
No Evidence for Haploinsufficiency (0)
Triplosensitivity:
No Evidence for Triplosensitivity (0)
Last Evaluated:
07/10/2012

Haploinsufficiency (HI) Score Details

HI Score:
0
HI Evidence Strength:
No Evidence for Haploinsufficiency (Disclaimer)
HI Evidence Comments:
PMID 21626674: A 2011 report of a 5.4Mb deletion encompassing ~20 genes including CADPS2 in a patient with autism spectrum disorder (ASD) and persistent hyperplastic primary vitreous. Haploinsufficiency for CADPS2 is hypothesized to contribute to ASD in this patient, however deletions of CADPS2 alone have not been reported in patient populations

Triplosensitivity (TS) Score Details

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

Genomic View

Select assembly: (NC_000007.13) (NC_000007.14)