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2563 GABRD

2563

GABRD

gamma-aminobutyric acid type A receptor delta subunit

protein-coding

Homo sapiens

基因描述

Type Description
Definition gamma-aminobutyric acid type A receptor delta subunit

研究结论

Date Results Publications
2020-05-09 13:47:00 In IDH wild-type diffuse low-grade glioma patients preserved GABRD expression was independently associated with longer overall survival and reduced tumor infiltration macrophages(TIM). CpG methylation of cg13916816 showed a moderately negative correlation with GABRD expression. 31545245
2018-02-03 11:18:00 This study found that increased methylation of the promoter of the delta subunit GABAA receptor was associated with reduced mRNA and protein levels in the cerebellum of alcohol use disorder subjects. 29020412
2014-11-08 12:52:00 Considering our Argentinean ASD sample, it can be inferred that GABRB3 would be involved in the etiology of autism through interaction with GABRD. These results support the hypothesis that GABAR subunit genes are involved in autism. 24249596
2014-02-01 10:08:00 Genome-wide association studies identify GABRD mutation releated to juvenile myoclonic epilepsy 23756480
2012-02-11 10:29:00 In recombinant human cDNA experiments in HEK293 cells, delta subunit coexpression leads to receptors activated by nanomolar THIP concentrations. 21795619

名称对应

Type IDs
Synonymous EIG10, EJM7, GEFSP5
Gene
UniProtKB-ID: GBRD_HUMAN, A8K496_HUMAN
UniprotKB: O14764, A8K496
UniParc: UPI0000070D0A, UPI00015DA717
EMBL: BC033801, AK290861, AF016917, AL391845
Ensembl: ENSG00000187730
KO: hsa:2563
Nucleutide sequences
EMBL-CDS: AAH33801.1, AAB70007.1, BAF83550.1
Ensembl_TRS: ENST00000378585
Protein sequencees
Ensembl_PRO: ENSP00000367848
RefSeq: XP_011539496.1, NP_000806.2, XP_016856425.1
Others
UniRef100: UniRef100_O14764, UniRef100_A8K496
UniRef90: UniRef90_O14764
UniRef50: UniRef50_O14764
UniGene: Hs.113882
CCDS: CCDS36.1

全选

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