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27445 PCLO

27445

PCLO

piccolo presynaptic cytomatrix protein

protein-coding

Homo sapiens

基因描述

Type Description
Definition piccolo presynaptic cytomatrix protein

研究结论

Date Results Publications
2018-02-10 11:43:00 In an analysis comparing 1,942 cases with lifetime diagnosis of MDD and 4,565 controls, PCLO showed a genome-wide significant association with major depressive disorder at SNP (rs2715157, p = 2.91 x 10-8) and gene-based (p = 1.48 x 10-7) level. 28540843
2018-02-10 11:08:00 The results showed that Piccolo, a protein that is essential in the maintenance of active zone structure, constitutes a potential serological correlate of recovery from GBS. 27776345
2017-12-02 12:37:00 we report an additional patient with the 7q21.11 deletion syndrome and provide evidence that haploinsufficiency for a single gene may not be the disease mechanism. In vitro studies of the interaction between PCLO and CACNA2D1 will be required to examine the hypothesis that combined haploinsufficiency for these two synaptic proteins results in neuronal dysfunction 28240412
2017-09-23 13:38:00 Piccolo contributes to tumor aggressiveness in esophageal squamous cell carcinoma, likely by stabilizing EGFR and promoting EGFR-dependent signaling. 28263981
2016-10-29 11:01:00 Results provide some support for the involvement of BICC1 and PCLO in late-life depressive disorders and preliminary evidence that these genetic variants may also influence brain structural volumes 26391493

名称对应

Type IDs
Synonymous ACZ, PCH3
Gene
UniProtKB-ID: PCLO_HUMAN
UniprotKB: Q9Y6V0
UniParc: UPI00001411DE, UPI0001573469, UPI000156FA8C
EMBL: CH236949, BC125271, BC001304, AB011131, AC004082, Y19188, AC080093, BC122565, AC093461, AC004903, AC004006, AC004886
Ensembl: ENSG00000186472
KO: hsa:27445
Nucleutide sequences
EMBL-CDS: CAB60727.1, EAL24187.1, BAA25485.1, AAB97937.1, AAI22566.1, AAH01304.2, AAI25272.1, AAD21789.2
Ensembl_TRS: ENST00000423517, ENST00000618073, ENST00000333891
Protein sequencees
Ensembl_PRO: ENSP00000482390, ENSP00000388393, ENSP00000334319
RefSeq: NP_055325.2, XP_016867495.1, NP_149015.2, XP_016867496.1
Others
UniRef100: UniRef100_Q9Y6V0
UniRef90: UniRef90_Q9Y6V0
UniRef50: UniRef50_Q9JKS6
UniGene: Hs.12376
CCDS: CCDS47630.1, CCDS47631.1

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