CADPS2 explained

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

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.^[1]

Interactions

This gene interacts with brain-derived neurotrophic factor.

Clinical significance

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.

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

Further reading

• Nagase T . Prediction of the coding sequences of unidentified human genes. XVIII. The complete sequences of 100 new cDNA clones from brain which code for large proteins in vitro . DNA Res. . 7 . 4 . 273–81 . 2001 . 10997877 . 10.1093/dnares/7.4.271. vanc. Kikuno R . Nakayama M . 3 . Hirosawa . M . Ohara . O . free.
• Nakayama M, Kikuno R, Ohara O . Protein-protein interactions between large proteins: two-hybrid screening using a functionally classified library composed of long cDNAs . Genome Res. . 12 . 11 . 1773–84 . 2003 . 12421765 . 10.1101/gr.406902 . 187542 .
• Strausberg RL . Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences . Proc. Natl. Acad. Sci. U.S.A. . 99 . 26 . 16899–903 . 2003 . 12477932 . 10.1073/pnas.242603899 . 139241 . vanc. Feingold EA . Grouse LH . 3 . Derge . JG . Klausner . RD . Collins . FS . Wagner . L . Shenmen . CM . Schuler . GD . 2002PNAS...9916899M . free .
• Cisternas FA, Vincent JB, Scherer SW, Ray PN . Cloning and characterization of human CADPS and CADPS2, new members of the Ca2+-dependent activator for secretion protein family . Genomics . 81 . 3 . 279–91 . 2003 . 12659812 . 10.1016/S0888-7543(02)00040-X .
• Speidel D . A family of Ca2+-dependent activator proteins for secretion: comparative analysis of structure, expression, localization, and function . J. Biol. Chem. . 278 . 52 . 52802–9 . 2004 . 14530279 . 10.1074/jbc.M304727200 . vanc. Varoqueaux F . Enk C . 3 . Nojiri . M . Grishanin . RN . Martin . TF . Hofmann . K . Brose . N . Reim . K . free .
• Ota T . Complete sequencing and characterization of 21,243 full-length human cDNAs . Nat. Genet. . 36 . 1 . 40–5 . 2004 . 14702039 . 10.1038/ng1285 . vanc. Suzuki Y . Nishikawa T . 3 . Otsuki . Tetsuji . Sugiyama . Tomoyasu . Irie . Ryotaro . Wakamatsu . Ai . Hayashi . Koji . Sato . Hiroyuki . free .
• Gerhard DS . The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC) . Genome Res. . 14 . 10B . 2121–7 . 2004 . 15489334 . 10.1101/gr.2596504 . 528928 . vanc. Wagner L . Feingold EA . 3 . Shenmen . CM . Grouse . LH . Schuler . G . Klein . SL . Old . S . Rasooly . R .
• Binda AV, Kabbani N, Levenson R . Regulation of dense core vesicle release from PC12 cells by interaction between the D2 dopamine receptor and calcium-dependent activator protein for secretion (CAPS) . Biochem. Pharmacol. . 69 . 10 . 1451–61 . 2005 . 15857609 . 10.1016/j.bcp.2005.02.015 .
• Kimura K . Diversification of transcriptional modulation: large-scale identification and characterization of putative alternative promoters of human genes . Genome Res. . 16 . 1 . 55–65 . 2006 . 16344560 . 10.1101/gr.4039406 . 1356129 . vanc. Wakamatsu A . Suzuki Y . 3 . Ota . T . Nishikawa . T . Yamashita . R . Yamamoto . J . Sekine . M . Tsuritani . K .

Notes and References

1. Web site: Entrez Gene: CADPS2 Ca2+-dependent activator protein for secretion 2. National Center for Biotechnology Information .
2. Sadakata . T . Autistic-like phenotypes in Cadps2-knockout mice and aberrant CADPS2 splicing in autistic patients . . 117 . 4 . 931–43 . 2007 . 17380209 . 10.1172/JCI29031 . 1821065 . Washida . M . Iwayama . Y . 3 . Shoji . Satoshi . Sato . Yumi . Ohkura . Takeshi . Katoh-Semba . Ritsuko . Nakajima . Mizuho . Sekine . Yukiko .
3. 19339759 . 10.1172/JCI38620 . Comment on "Autistic-like phenotypes in Cadps2-knockout mice and aberrant CADPS2 splicing in autistic patients" . . 119 . 4 . 679–80 . April 2009 . Alal . Eran . Kaitlin R. . Graham . Kayla . Vatalaro . Jillian . McCarthy . Christin . Collins . Heather . Peters . Stephanie J. . Brewster . Ellen . Hanson . Rachel . Hundley . Leonard . Rappaport . Ingrid A. . Holm . Isaac S. . Kohane . Louis M. . Kunkel . 3 . 2662571.
4. 21253556 . Relationships between gene expression and brain wiring in the adult rodent brain . . 6 January 2011 . 7 . 1 . French . L. . Pavlidis . P. . 10.1371/journal.pcbi.1001049 . 3017102 . e1001049. 2011PLSCB...7E1049F . free .
5. 20171287 . Voxelwise genome-wide association study (vGWAS) . . 15 November 2010 . 53 . 3 . 1160–74 . Stein . JL . Hua . X . Lee . S . Ho . AJ . Leow . AD . Toga . AW . Saykin . AJ . Shen . L . Foroud . T . Pankratz . N . Huentelman . MJ . Craig . DW . Gerber . JD . Allen . AN . Corneveaux . JJ . Dechairo . BM . Potkin . SG . Weiner . MW . Thompson . P . Alzheimer's Disease Neuroimaging Initiative . 3 . 10.1016/j.neuroimage.2010.02.032 . 2900429.