Entrez 93664 | Ensembl ENSG00000081803 | |
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Aliases CADPS2, CAPS2, calcium dependent secretion activator 2 External IDs MGI: 2443963 HomoloGene: 23060 GeneCards: CADPS2 | ||
Calcium-dependent secretion activator 2 is a protein that in humans is encoded by the CADPS2 gene.
Contents
Function
This gene encodes a member of the calcium-dependent activator of secretion (CAPS) protein family, which are calcium-binding proteins that regulate the exocytosis of synaptic and dense-core vesicles in neurons and neuroendocrine cells.
Interactions
This gene interacts with brain-derived neurotrophic factor.
Clinical significance
Cadps2 has been linked to autism and is in the 7q autism susceptibility locus (AUTS1). However, the finding of aberrant CADPS2 splicing was not found to be significant in another study.
A knockout mouse model was found to have autistic-like characteristics.
CADPS2 has been linked to human and mouse brain structure in two large genomic studies.
References
CADPS2 Wikipedia(Text) CC BY-SA