// Workers AI · dad joke modeWhat did CADPS2 say to its date? You cad, PS2 be mine.
Calcium-dependent secretion activator 2 is a protein that in humans is encoded by the CADPS2 gene.[5]
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.[5]
Interactions
[edit]This gene interacts with brain-derived neurotrophic factor.
Clinical significance
[edit]Cadps2 has been linked to autism[6] 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.[7]
A knockout mouse model was found to have autistic-like characteristics.[6]
CADPS2 has been linked to human and mouse brain structure in two large genomic studies.[8][9]
References
[edit]- 1 2 3 GRCh38: Ensembl release 89: ENSG00000081803 – Ensembl, May 2017
- 1 2 3 GRCm38: Ensembl release 89: ENSMUSG00000017978 – Ensembl, May 2017
- ↑ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
- ↑ "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
- 1 2 "Entrez Gene: CADPS2 Ca2+-dependent activator protein for secretion 2". National Center for Biotechnology Information.
- 1 2 Sadakata T, Washida M, Iwayama Y, Shoji S, Sato Y, Ohkura T, et al. (April 2007). "Autistic-like phenotypes in Cadps2-knockout mice and aberrant CADPS2 splicing in autistic patients". The Journal of Clinical Investigation. 117 (4): 931–943. doi:10.1172/JCI29031. PMC 1821065. PMID 17380209.
- ↑ Eran A, Graham KR, Vatalaro K, McCarthy J, Collins C, Peters H, et al. (April 2009). "Comment on "Autistic-like phenotypes in Cadps2-knockout mice and aberrant CADPS2 splicing in autistic patients"". The Journal of Clinical Investigation. 119 (4): 679–80, author reply 680–1. doi:10.1172/JCI38620. PMC 2662571. PMID 19339759.
- ↑ French L, Pavlidis P (January 2011). "Relationships between gene expression and brain wiring in the adult rodent brain". PLOS Computational Biology. 7 (1) e1001049. Bibcode:2011PLSCB...7E1049F. doi:10.1371/journal.pcbi.1001049. PMC 3017102. PMID 21253556.
- ↑ Stein JL, Hua X, Lee S, Ho AJ, Leow AD, Toga AW, et al. (November 2010). "Voxelwise genome-wide association study (vGWAS)". NeuroImage. 53 (3): 1160–1174. doi:10.1016/j.neuroimage.2010.02.032. PMC 2900429. PMID 20171287.
External links
[edit]- Human CADPS2 genome location and CADPS2 gene details page in the UCSC Genome Browser.
Further reading
[edit]- Nagase T, Kikuno R, Nakayama M, Hirosawa M, Ohara O (August 2000). "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 Research. 7 (4): 273–281. doi:10.1093/dnares/7.4.271. PMID 10997877.
- Nakayama M, Kikuno R, Ohara O (2003). "Protein-protein interactions between large proteins: two-hybrid screening using a functionally classified library composed of long cDNAs". Genome Research. 12 (11): 1773–1784. doi:10.1101/gr.406902. PMC 187542. PMID 12421765.
- Cisternas FA, Vincent JB, Scherer SW, Ray PN (2003). "Cloning and characterization of human CADPS and CADPS2, new members of the Ca2+-dependent activator for secretion protein family". Genomics. 81 (3): 279–291. doi:10.1016/S0888-7543(02)00040-X. PMID 12659812.
- Speidel D, Varoqueaux F, Enk C, Nojiri M, Grishanin RN, Martin TF, et al. (December 2003). "A family of Ca2+-dependent activator proteins for secretion: comparative analysis of structure, expression, localization, and function". The Journal of Biological Chemistry. 278 (52): 52802–52809. doi:10.1074/jbc.M304727200. PMID 14530279.
- Binda AV, Kabbani N, Levenson R (2005). "Regulation of dense core vesicle release from PC12 cells by interaction between the D2 dopamine receptor and calcium-dependent activator protein for secretion (CAPS)". Biochemical Pharmacology. 69 (10): 1451–1461. doi:10.1016/j.bcp.2005.02.015. PMID 15857609.
- Kimura K, Wakamatsu A, Suzuki Y, Ota T, Nishikawa T, Yamashita R, et al. (January 2006). "Diversification of transcriptional modulation: large-scale identification and characterization of putative alternative promoters of human genes". Genome Research. 16 (1): 55–65. doi:10.1101/gr.4039406. PMC 1356129. PMID 16344560.
This article incorporates text from the United States National Library of Medicine, which is in the public domain.