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]

  1. ^ a b "Entrez Gene: CADPS2 Ca2+-dependent activator protein for secretion 2". National Center for Biotechnology Information. 
  2. ^ a b Sadakata, T; Washida, M; Iwayama, Y et al. (2007). "Autistic-like phenotypes in Cadps2-knockout mice and aberrant CADPS2 splicing in autistic patients". Journal of Clinical Investigation 117 (4): 931–43. doi:10.1172/JCI29031. PMC 1821065. PMID 17380209. 
  3. ^ Eran, Alal; Graham, Kaitlin R.; Vatalaro, Kayla et al. (April 2009). "Comment on "Autistic-like phenotypes in Cadps2-knockout mice and aberrant CADPS2 splicing in autistic patients"". Journal of Clinical Investigation 119 (4): 679–80. doi:10.1172/JCI38620. PMID 19339759. 
  4. ^ French, L.; Pavlidis, P. (6 January 2011). "Relationships between gene expression and brain wiring in the adult rodent brain". PLoS Computational Biology 7 (1): e1001049. doi:10.1371/journal.pcbi.1001049. PMC 3017102. PMID 21253556. 
  5. ^ Stein, JL; Hua, X; Lee, S et al. (15 November 2010). "Voxelwise genome-wide association study (vGWAS)". Neuroimage 53 (3): 1160–74. doi:10.1016/j.neuroimage.2010.02.032. PMID 20171287. 

Further reading[edit]

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