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    CADPS2 calcium dependent secretion activator 2 [ Homo sapiens (human) ]

    Gene ID: 93664, updated on 9-Jun-2024

    GeneRIFs: Gene References Into Functions

    GeneRIFPubMed TitleDate
    Down-regulation of habenular calcium-dependent secretion activator 2 induces despair-like behavior.

    Down-regulation of habenular calcium-dependent secretion activator 2 induces despair-like behavior.
    Yoo H, Yang SH, Kim JY, Yang E, Park HS, Lee SJ, Rhyu IJ, Turecki G, Lee HW, Kim H., Free PMC Article

    12/18/2021
    The top SNP rs2049161 involved gene DLGAP1 and the top gene CADPS2 in the gene-based analysis resulted in much literature evidence of associations with psychiatric disorders. Gene expression and network analysis showed their contribution to cognition function.

    Genetic analysis for cognitive flexibility in the trail-making test in attention deficit hyperactivity disorder patients from single nucleotide polymorphism, gene to pathway level.
    Zhang K, Fan Z, Wang Y, Faraone SV, Yang L, Chang S., Free PMC Article

    08/13/2020
    These results indicate that LRRK2 and alpha-synuclein participate in the dysregulation of CADPS2 by altering transcription and support the hypothesis that synaptic dysfunctions, through different mechanisms, might contribute to the neuronal defects of diseases such as Parkinson's disease.

    CADPS2 gene expression is oppositely regulated by LRRK2 and alpha-synuclein.
    Obergasteiger J, Überbacher C, Pramstaller PP, Hicks AA, Corti C, Volta M.

    08/19/2017
    Mutation screening of 187 patients with autism spectrum disorders and 36 with intellectual disability identified a missense change of maternal origin disrupting CADPS2/D2DR interaction.

    Maternally inherited genetic variants of CADPS2 are present in autism spectrum disorders and intellectual disability patients.
    Bonora E, Graziano C, Minopoli F, Bacchelli E, Magini P, Diquigiovanni C, Lomartire S, Bianco F, Vargiolu M, Parchi P, Marasco E, Mantovani V, Rampoldi L, Trudu M, Parmeggiani A, Battaglia A, Mazzone L, Tortora G, IMGSAC, Maestrini E, Seri M, Romeo G., Free PMC Article

    01/24/2015
    This study suggested that CADPS2DeltaExon3 affects intelligence and memory in the non-clinical population.

    Blood CADPS2ΔExon3 expression is associated with intelligence and memory in healthy adults.
    Hattori K, Tanaka H, Yamamoto N, Teraishi T, Hori H, Kinoshita Y, Matsuo J, Kawamoto Y, Kunugi H.

    04/28/2012
    We speculate that haploinsufficiency of CADPS2 contributes to ASDs.

    Submicroscopic deletion in 7q31 encompassing CADPS2 and TSPAN12 in a child with autism spectrum disorder and PHPV.
    Okamoto N, Hatsukawa Y, Shimojima K, Yamamoto T.

    10/15/2011
    Clinical trial of gene-disease association and gene-environment interaction. (HuGE Navigator)

    Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.
    Rose JE, Behm FM, Drgon T, Johnson C, Uhl GR., Free PMC Article

    06/30/2010
    Observational study and genome-wide association study of gene-disease association. (HuGE Navigator)

    Voxelwise genome-wide association study (vGWAS).
    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., Free PMC Article

    04/7/2010
    Genetic disturbance in CADPS2-mediated neurotrophin release contributes to autism susceptibility.

    Autistic-like phenotypes in Cadps2-knockout mice and aberrant CADPS2 splicing in autistic patients.
    Sadakata T, Washida M, Iwayama Y, Shoji S, Sato Y, Ohkura T, Katoh-Semba R, Nakajima M, Sekine Y, Tanaka M, Nakamura K, Iwata Y, Tsuchiya KJ, Mori N, Detera-Wadleigh SD, Ichikawa H, Itohara S, Yoshikawa T, Furuichi T, Sadakata T, Washida M, Iwayama Y, Shoji S, Sato Y, Ohkura T, Katoh-Semba R, Nakajima M, Sekine Y, Tanaka M, Nakamura K, Iwata Y, Tsuchiya KJ, Mori N, Detera-Wadleigh SD, Ichikawa H, Itohara S, Yoshikawa T, Furuichi T, Sadakata T, Washida M, Iwayama Y, Shoji S, Sato Y, Ohkura T, Katoh-Semba R, Nakajima M, Sekine Y, Tanaka M, Nakamura K, Iwata Y, Tsuchiya KJ, Mori N, Detera-Wadleigh SD, Ichikawa H, Itohara S, Yoshikawa T, Furuichi T., Free PMC Articles: PMC1821065, PMC1821065, PMC1821065

    01/21/2010
    CAPS proteins are involved in optimizing vesicular monoamine uptake and storage mediated by VMAT1 and VMAT2

    Ca2+-dependent activator proteins of secretion promote vesicular monoamine uptake.
    Brunk I, Blex C, Speidel D, Brose N, Ahnert-Hilger G.

    01/21/2010
    Observational study of gene-disease association. (HuGE Navigator)

    A common variant in DRD3 receptor is associated with autism spectrum disorder.
    de Krom M, Staal WG, Ophoff RA, Hendriks J, Buitelaar J, Franke B, de Jonge MV, Bolton P, Collier D, Curran S, van Engeland H, van Ree JM.

    01/11/2009
    identification, cloning, and comparative characterization of a second mammalian CAPS isoform, CAPS2; concluded that at the functional level, CAPS2 is largely redundant with CAPS1

    A family of Ca2+-dependent activator proteins for secretion: comparative analysis of structure, expression, localization, and function.
    Speidel D, Varoqueaux F, Enk C, Nojiri M, Grishanin RN, Martin TF, Hofmann K, Brose N, Reim K.

    01/21/2010
    CADPS2-KO mice show autistic-like phenotypes. Moreover, the results show that some autistic patients have an aberrant splicing variant of CADPS2 mRNA, suggesting that a disturbance in CADPS2-mediated neurotrophin release contributes to autism.

    Autistic-like phenotypes in Cadps2-knockout mice and aberrant CADPS2 splicing in autistic patients.
    Sadakata T, Washida M, Iwayama Y, Shoji S, Sato Y, Ohkura T, Katoh-Semba R, Nakajima M, Sekine Y, Tanaka M, Nakamura K, Iwata Y, Tsuchiya KJ, Mori N, Detera-Wadleigh SD, Ichikawa H, Itohara S, Yoshikawa T, Furuichi T, Sadakata T, Washida M, Iwayama Y, Shoji S, Sato Y, Ohkura T, Katoh-Semba R, Nakajima M, Sekine Y, Tanaka M, Nakamura K, Iwata Y, Tsuchiya KJ, Mori N, Detera-Wadleigh SD, Ichikawa H, Itohara S, Yoshikawa T, Furuichi T, Sadakata T, Washida M, Iwayama Y, Shoji S, Sato Y, Ohkura T, Katoh-Semba R, Nakajima M, Sekine Y, Tanaka M, Nakamura K, Iwata Y, Tsuchiya KJ, Mori N, Detera-Wadleigh SD, Ichikawa H, Itohara S, Yoshikawa T, Furuichi T., Free PMC Articles: PMC1821065, PMC1821065, PMC1821065

    03/29/2007
    Results from Cadps2-deficient mice and human data suggest that a disturbance in CADPS2-mediated neurotrophin release contributes to autistic-like cellular and behavioral phenotypes.

    Autistic-like phenotypes in Cadps2-knockout mice and aberrant CADPS2 splicing in autistic patients.
    Sadakata T, Washida M, Iwayama Y, Shoji S, Sato Y, Ohkura T, Katoh-Semba R, Nakajima M, Sekine Y, Tanaka M, Nakamura K, Iwata Y, Tsuchiya KJ, Mori N, Detera-Wadleigh SD, Ichikawa H, Itohara S, Yoshikawa T, Furuichi T, Sadakata T, Washida M, Iwayama Y, Shoji S, Sato Y, Ohkura T, Katoh-Semba R, Nakajima M, Sekine Y, Tanaka M, Nakamura K, Iwata Y, Tsuchiya KJ, Mori N, Detera-Wadleigh SD, Ichikawa H, Itohara S, Yoshikawa T, Furuichi T, Sadakata T, Washida M, Iwayama Y, Shoji S, Sato Y, Ohkura T, Katoh-Semba R, Nakajima M, Sekine Y, Tanaka M, Nakamura K, Iwata Y, Tsuchiya KJ, Mori N, Detera-Wadleigh SD, Ichikawa H, Itohara S, Yoshikawa T, Furuichi T., Free PMC Articles: PMC1821065, PMC1821065, PMC1821065

    03/28/2007
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