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2561 GABRB2

2561

GABRB2

gamma-aminobutyric acid type A receptor beta2 subunit

protein-coding

Homo sapiens

基因描述

Type Description
Definition gamma-aminobutyric acid type A receptor beta2 subunit

研究结论

Date Results Publications
2021-04-03 13:34:00 Characterization of the GABRB2-Associated Neurodevelopmental Disorders. 33325057
2021-01-16 15:55:00 Phenotypic spectrum of patients with GABRB2 variants: from mild febrile seizures to severe epileptic encephalopathy. 32686847
2020-12-05 12:56:00 The association of GABRB2 SNPs with cognitive function in schizophrenia. 30706170
2020-11-21 13:20:00 Steady-state activation of the high-affinity isoform of the alpha4beta2delta GABAA receptor. 31690811
2019-01-12 11:35:00 GABRB2 polymorphisms might not be associated with schizophrenia. 29894498

名称对应

Type IDs
Synonymous ICEE2
Gene
UniProtKB-ID: GBRB2_HUMAN
UniprotKB: P47870
UniParc: UPI0001BC2642, UPI000002D733, UPI0001BC2643, UPI000002AA29
EMBL: GU086163, AK289730, AK289815, CH471062, GU086164, S77553, BC105639, BC099719, S67368, BC099705, S77554
Ensembl: ENSG00000145864
KO: hsa:2561
Nucleutide sequences
EMBL-CDS: AAB33983.1, AAI05640.1, AAB29370.1, AAH99719.1, AAH99705.1, EAW61543.1, AAB33982.1, BAF82504.1, BAF82419.1, ACY69094.1, ACY69095.1
Ensembl_TRS: ENST00000612710, ENST00000353437, ENST00000393959, ENST00000520240, ENST00000274547
Protein sequencees
Ensembl_PRO: ENSP00000429320, ENSP00000480066, ENSP00000274546, ENSP00000274547, ENSP00000377531
RefSeq: NP_000804.1, NP_068711.1, NP_001358656.1
Others
UniRef100: UniRef100_P47870
UniRef90: UniRef90_P47870
UniRef50: UniRef50_P47870
UniGene: Hs.303527
CCDS: CCDS4355.1, CCDS4354.1

全选

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研究热度

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