CADPS2

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Ca++-dependent secretion activator 2
Identifiers
Symbols CADPS2 ; FLJ40851; KIAA1591
External IDs OMIM609978 MGI2443963 HomoloGene23060 GeneCards: CADPS2 Gene
RNA expression pattern
PBB GE CADPS2 219572 at tn.png
More reference expression data
Orthologs
Species Human Mouse
Entrez 93664 320405
Ensembl ENSG00000081803 ENSMUSG00000017978
UniProt Q86UW7 Q8BYR5
RefSeq (mRNA) NM_001009571 NM_001252105
RefSeq (protein) NP_001009571 NP_001239034
Location (UCSC) Chr 7:
121.96 – 122.53 Mb
Chr 6:
23.26 – 23.84 Mb
PubMed search [1] [2]

Calcium-dependent secretion activator 2 is a protein that in humans is encoded by the CADPS2 gene.[1]

Function[edit]

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.[1]

Interactions[edit]

This gene interacts with brain-derived neurotrophic factor.

Clinical significance[edit]

Cadps2 has been linked to autism[2] 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.[3]

A knockout mouse model was found to have autistic-like characteristics.[2]

CADPS2 has been linked to human and mouse brain structure in two large genomic studies.[4][5]

References[edit]

Further reading[edit]

This article incorporates text from the United States National Library of Medicine, which is in the public domain.