CADPS2 (calcium dependent secretion activator 2)

2014-11-01  

Identity

HGNC
LOCATION
7q31.32
LOCUSID
ALIAS
CAPS2
FUSION GENES

Other Information

Locus ID:

NCBI: 93664
MIM: 609978
HGNC: 16018
Ensembl: ENSG00000081803

Variants:

dbSNP: 93664
ClinVar: 93664
TCGA: ENSG00000081803
COSMIC: CADPS2

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000081803ENST00000313070F8W8P5
ENSG00000081803ENST00000334010C9IYE1
ENSG00000081803ENST00000397721H7BYR4
ENSG00000081803ENST00000412584Q86UW7
ENSG00000081803ENST00000412584X5DNG0
ENSG00000081803ENST00000449022Q86UW7
ENSG00000081803ENST00000462699H0Y8B5
ENSG00000081803ENST00000615869A0A087X1P3

Expression (GTEx)

0
50
100
150
200

References

Pubmed IDYearTitleCitations
201712872010Voxelwise genome-wide association study (vGWAS).124
173802092007Autistic-like phenotypes in Cadps2-knockout mice and aberrant CADPS2 splicing in autistic patients.69
173802092007Autistic-like phenotypes in Cadps2-knockout mice and aberrant CADPS2 splicing in autistic patients.69
173802092007Autistic-like phenotypes in Cadps2-knockout mice and aberrant CADPS2 splicing in autistic patients.69
203796142010Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.62
145302792003A family of Ca2+-dependent activator proteins for secretion: comparative analysis of structure, expression, localization, and function.33
190587892009A common variant in DRD3 receptor is associated with autism spectrum disorder.19
190082272009Ca2+-dependent activator proteins of secretion promote vesicular monoamine uptake.16
216266742011Submicroscopic deletion in 7q31 encompassing CADPS2 and TSPAN12 in a child with autism spectrum disorder and PHPV.11
247378692014Maternally inherited genetic variants of CADPS2 are present in autism spectrum disorders and intellectual disability patients.10

Citation

Dessen P

CADPS2 (calcium dependent secretion activator 2)

Atlas Genet Cytogenet Oncol Haematol. 2014-11-01

Online version: http://atlasgeneticsoncology.org/gene/61383/cadps2