CADPS2 |
- 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)