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93664 CADPS2

93664

CADPS2

calcium dependent secretion activator 2

protein-coding

Homo sapiens

基因描述

Type Description
Definition calcium dependent secretion activator 2

研究结论

Date Results Publications
2020-08-13 17:03:00 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. 28971736
2017-08-19 12:21:00 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. 28647363
2015-01-24 11:03:00 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. 24737869
2012-04-28 10:40:00 This study suggested that CADPS2DeltaExon3 affects intelligence and memory in the non-clinical population. 22001167
2011-10-15 11:29:00 We speculate that haploinsufficiency of CADPS2 contributes to ASDs. 21626674

名称对应

Type IDs
Synonymous CAPS2
Gene
UniProtKB-ID: CAPS2_HUMAN, B7ZM57_HUMAN, X5DNG0_HUMAN
UniprotKB: Q86UW7, B7ZM57, X5DNG0
UniParc: UPI00006688A8, UPI0001917063, UPI0000668808, UPI000013F445
EMBL: AC015983, AC006009, CH236947, AK098170, AB046811, AK000768, KJ534801, BC054339, AK025672, AC004838, AL833058, BC144279, AC004986, AF401638, AY264289, AC091438, BC144278, BC136601, AC004594, AC006463
Ensembl: ENSG00000081803
KO: hsa:93664
Nucleutide sequences
EMBL-CDS: AAI44279.1, AAN38707.1, AAI36602.1, BAB15210.1, CAH56288.1, BAA91372.1, AAP22132.1, BAB13417.1, AAH54339.1, EAL24339.1, AAI44280.1, AHW56441.1
Ensembl_TRS: ENST00000412584, ENST00000449022
Protein sequencees
Ensembl_PRO: ENSP00000398481, ENSP00000400401
RefSeq: NP_001350329.1, NP_001161412.1, NP_001350324.1, NP_001350321.1, XP_005250761.1, XP_005250759.1, NP_001350328.1, NP_001350326.1, XP_016868283.1, NP_060424.9, NP_001350322.1, XP_005250753.1, NP_001350320.1, NP_001350319.1, NP_001009571.2, XP_005250756.1, XP_024302766.1, NP_001350323.1, XP_016868287.1, XP_005250763.1, XP_005250764.1, NP_001350325.1, NP_001350318.1, XP_016868285.1, NP_001350327.1, XP_005250758.1, XP_005250754.1
Others
UniRef100: UniRef100_B7ZM57, UniRef100_Q86UW7-2, UniRef100_Q86UW7
UniRef90: UniRef90_Q86UW7, UniRef90_Q86UW7-2
UniRef50: UniRef50_Q86UW7
UniGene: Hs.649459
CCDS: CCDS55158.1, CCDS47691.1

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