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2555 GABRA2

2555

GABRA2

gamma-aminobutyric acid type A receptor alpha2 subunit

protein-coding

Homo sapiens

基因描述

Type Description
Definition gamma-aminobutyric acid type A receptor alpha2 subunit

研究结论

Date Results Publications
2021-03-06 13:27:00 Gabra2 is a genetic modifier of Scn8a encephalopathy in the mouse. 33140451
2020-10-03 12:58:00 FRMD7 Mutations Disrupt the Interaction with GABRA2 and May Result in Infantile Nystagmus Syndrome. 32446246
2020-06-20 12:24:00 The strongest association for alcohol use disorder (rs3756007) was located in GABRA2, the strongest association for antisocial behavior (rs11941860) was located in GABRG1, and the interaction term yielded top associations in GABRA2 (rs2119183) and the intergenic region between GABRA2 and GABRG1 (rs536599). 31790348
2019-07-20 11:38:00 The GABRA2 p.T292K variant reduced channel expression and produced mutant channels that were tonically open, even in the absence of GABA. 29961870
2019-04-13 11:37:00 To test an age-varying interaction between a single nucleotide polymorphism in the GABRA2 gene (rs279845) and a preventive intervention in predicting alcohol misuse in a longitudinal study of adolescents (ages 11-20). Intervention effects on adolescent alcohol misuse may differ by genotype, and evidence suggests that the interaction between GABRA2 and intervention effects on alcohol use may vary with age. 28185103

名称对应

Type IDs
Gene
UniProtKB-ID: GBRA2_HUMAN, E9PBQ7_HUMAN, A0A024R9X6_HUMAN
UniprotKB: P47869, E9PBQ7, A0A024R9X6
UniParc: UPI000049193F, UPI000013DC88, UPI0001914A97
EMBL: AK125179, AC093745, AK293466, AC084352, AK289662, AC104072, S62907, AB209295, CH471069, AC095060
Ensembl: ENSG00000151834
KO: hsa:2555
Nucleutide sequences
EMBL-CDS: AAB27278.1, BAH11514.1, BAG54159.1, BAD92532.1, BAF82351.1, EAW93022.1, EAW93025.1, EAW93024.1
Gene_ORFName: hCG_15318
Ensembl_TRS: ENST00000510861, ENST00000356504, ENST00000514090, ENST00000381620, ENST00000507069
Protein sequencees
Ensembl_PRO: ENSP00000348897, ENSP00000421828, ENSP00000371033, ENSP00000421300, ENSP00000427603
RefSeq: XP_011511977.1, XP_024309735.1, NP_001364082.1, NP_001107647.1, NP_001364074.1, NP_001364073.1, NP_001364081.1, XP_024309734.1, NP_001364083.1, NP_001317619.1, XP_024309732.1, NP_001364084.1, NP_001273756.1, NP_000798.2, NP_001364080.1, NP_001364075.1, NP_001364076.1, NP_001364077.1, NP_001364078.1, NP_001364079.1
Others
UniRef100: UniRef100_P47869, UniRef100_E9PBQ7
UniRef90: UniRef90_P47869, UniRef90_A0A337SQD9
UniRef50: UniRef50_P47869
UniGene: Hs.116250
CCDS: CCDS3471.1

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