| 释义 |
- Function
- Interactions
- Clinical significance
- References
- External links
- Further reading
{{Infobox_gene}}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.[2] CADPS2 has been linked to human and mouse brain structure in two large genomic studies.[4][5] References1. ^1 {{cite web | title = Entrez Gene: CADPS2 Ca2+-dependent activator protein for secretion 2| url = https://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=93664 | publisher = National Center for Biotechnology Information | accessdate = }}
2. ^1 {{cite journal | last1=Sadakata |first1=T |title=Autistic-like phenotypes in Cadps2-knockout mice and aberrant CADPS2 splicing in autistic patients |journal=Journal of Clinical Investigation |volume=117 |issue= 4 |pages= 931–43 |year= 2007 |pmid= 17380209 |doi= 10.1172/JCI29031 | pmc=1821065 | last2=Washida | first2=M | last3=Iwayama | first3=Y | display-authors=3 | last4=Shoji | first4=Satoshi | last5=Sato | first5=Yumi | last6=Ohkura | first6=Takeshi | last7=Katoh-Semba | first7=Ritsuko | last8=Nakajima | first8=Mizuho | last9=Sekine | first9=Yukiko }}
3. ^{{cite journal |pmid=19339759 |doi=10.1172/JCI38620 |title=Comment on "Autistic-like phenotypes in Cadps2-knockout mice and aberrant CADPS2 splicing in autistic patients" |journal=Journal of Clinical Investigation |volume=119 |issue=4 |pages=679–80 |date=April 2009 |first1=Alal |last1=Eran |first2=Kaitlin R. |last2=Graham |first3=Kayla |last3=Vatalaro |first4=Jillian |last4=McCarthy |first5=Christin |last5=Collins |first6=Heather |last6=Peters |first7=Stephanie J. |last7=Brewster |first8=Ellen |last8=Hanson |first9=Rachel |last9=Hundley |first10=Leonard |last10=Rappaport |first11=Ingrid A. |last11=Holm |first12=Isaac S. |last12=Kohane |first13=Louis M. |last13=Kunkel |display-authors=3 |pmc=2662571}}
4. ^{{Cite journal |pmid=21253556 |title=Relationships between gene expression and brain wiring in the adult rodent brain |journal=PLoS Computational Biology |date=6 January 2011 |volume=7 |issue=1 |last1=French |first1=L. |last2=Pavlidis |first2=P. |doi=10.1371/journal.pcbi.1001049 |pmc=3017102 |pages=e1001049}}
5. ^{{Cite journal |pmid=20171287 |title=Voxelwise genome-wide association study (vGWAS) |journal=NeuroImage |date=15 November 2010 |volume=53 |issue=3 |pages=1160–74 |last1=Stein |first1=JL |last2=Hua |first2=X |last3=Lee |first3=S |last4=Ho |first4=AJ |last5=Leow |first5=AD |last6=Toga |first6=AW |last7=Saykin |first7=AJ |last8=Shen |first8=L |last9=Foroud |first9=T |last10=Pankratz |first10=N |last11=Huentelman |first11=MJ |last12=Craig |first12=DW |last13=Gerber |first13=JD |last14=Allen |first14=AN |last15=Corneveaux |first15=JJ |last16=Dechairo |first16=BM |last17=Potkin |first17=SG |last18=Weiner |first18=MW |last19=Thompson |first19=P |author20=Alzheimer's Disease Neuroimaging Initiative |display-authors=3 |doi=10.1016/j.neuroimage.2010.02.032 |pmc=2900429}}
External links- {{UCSC gene info|CADPS2}}
Further reading{{refbegin | 2}}- {{cite journal | author=Nagase T |title=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 |journal=DNA Res. |volume=7 |issue= 4 |pages= 273–81 |year= 2001 |pmid= 10997877 |doi= 10.1093/dnares/7.4.271|name-list-format=vanc| author2=Kikuno R | author3=Nakayama M | display-authors=3 | last4=Hirosawa | first4=M | last5=Ohara | first5=O }}
- {{cite journal |vauthors=Nakayama M, Kikuno R, Ohara O |title=Protein-protein interactions between large proteins: two-hybrid screening using a functionally classified library composed of long cDNAs |journal=Genome Res. |volume=12 |issue= 11 |pages= 1773–84 |year= 2003 |pmid= 12421765 |doi= 10.1101/gr.406902 | pmc=187542 }}
- {{cite journal | author=Strausberg RL |title=Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences |journal=Proc. Natl. Acad. Sci. U.S.A. |volume=99 |issue= 26 |pages= 16899–903 |year= 2003 |pmid= 12477932 |doi= 10.1073/pnas.242603899 | pmc=139241 |name-list-format=vanc| author2=Feingold EA | author3=Grouse LH | display-authors=3 | last4=Derge | first4=JG | last5=Klausner | first5=RD | last6=Collins | first6=FS | last7=Wagner | first7=L | last8=Shenmen | first8=CM | last9=Schuler | first9=GD }}
- {{cite journal |vauthors=Cisternas FA, Vincent JB, Scherer SW, Ray PN |title=Cloning and characterization of human CADPS and CADPS2, new members of the Ca2+-dependent activator for secretion protein family |journal=Genomics |volume=81 |issue= 3 |pages= 279–91 |year= 2003 |pmid= 12659812 |doi=10.1016/S0888-7543(02)00040-X }}
- {{cite journal | author=Speidel D |title=A family of Ca2+-dependent activator proteins for secretion: comparative analysis of structure, expression, localization, and function |journal=J. Biol. Chem. |volume=278 |issue= 52 |pages= 52802–9 |year= 2004 |pmid= 14530279 |doi= 10.1074/jbc.M304727200 |name-list-format=vanc| author2=Varoqueaux F | author3=Enk C | display-authors=3 | last4=Nojiri | first4=M | last5=Grishanin | first5=RN | last6=Martin | first6=TF | last7=Hofmann | first7=K | last8=Brose | first8=N | last9=Reim | first9=K }}
- {{cite journal | author=Ota T |title=Complete sequencing and characterization of 21,243 full-length human cDNAs |journal=Nat. Genet. |volume=36 |issue= 1 |pages= 40–5 |year= 2004 |pmid= 14702039 |doi= 10.1038/ng1285 |name-list-format=vanc| author2=Suzuki Y | author3=Nishikawa T | display-authors=3 | last4=Otsuki | first4=Tetsuji | last5=Sugiyama | first5=Tomoyasu | last6=Irie | first6=Ryotaro | last7=Wakamatsu | first7=Ai | last8=Hayashi | first8=Koji | last9=Sato | first9=Hiroyuki }}
- {{cite journal | author=Gerhard DS |title=The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC) |journal=Genome Res. |volume=14 |issue= 10B |pages= 2121–7 |year= 2004 |pmid= 15489334 |doi= 10.1101/gr.2596504 | pmc=528928 |name-list-format=vanc| author2=Wagner L | author3=Feingold EA | display-authors=3 | last4=Shenmen | first4=CM | last5=Grouse | first5=LH | last6=Schuler | first6=G | last7=Klein | first7=SL | last8=Old | first8=S | last9=Rasooly | first9=R }}
- {{cite journal |vauthors=Binda AV, Kabbani N, Levenson R |title=Regulation of dense core vesicle release from PC12 cells by interaction between the D2 dopamine receptor and calcium-dependent activator protein for secretion (CAPS) |journal=Biochem. Pharmacol. |volume=69 |issue= 10 |pages= 1451–61 |year= 2005 |pmid= 15857609 |doi= 10.1016/j.bcp.2005.02.015 }}
- {{cite journal | author=Kimura K |title=Diversification of transcriptional modulation: large-scale identification and characterization of putative alternative promoters of human genes |journal=Genome Res. |volume=16 |issue= 1 |pages= 55–65 |year= 2006 |pmid= 16344560 |doi= 10.1101/gr.4039406 | pmc=1356129 |name-list-format=vanc| author2=Wakamatsu A | author3=Suzuki Y | display-authors=3 | last4=Ota | first4=T | last5=Nishikawa | first5=T | last6=Yamashita | first6=R | last7=Yamamoto | first7=J | last8=Sekine | first8=M | last9=Tsuritani | first9=K }}
{{refend}}{{NLM content}}{{gene-7-stub}} |