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10243 GPHN

10243

GPHN

gephyrin

protein-coding

Homo sapiens

基因描述

Type Description
Definition gephyrin

研究结论

Date Results Publications
2019-05-25 11:46:00 Using quantitative photoactivated localisation microscopy the authors found that alpha-1 and alpha-3 containing glycine receptors display the same alpha3:beta2 stoichiometry and gephyrin binding. 28883437
2018-03-31 11:39:00 This study shown that the SNPs located in the rs723432 (Pallele=0.007; uncorrected) in the GPHN gene showed associated with Japanese individuals affected with schizophrenia. 28073605
2016-11-12 11:45:00 these data reveal that IQSEC3 acts together with gephyrin to regulate inhibitory synapse development. 27002143
2016-06-28 11:17:00 A missense mutation of gephyrin that was unable to synthesize MoCo and activate MoCo-dependent enzymes was identified. 26613940
2016-03-26 11:47:00 A yin-yang haplotype pattern encompassing gephyrin consists of 284 divergent nucleotide states and both variants vary drastically from their mutual ancestral haplotype, suggesting rapid evolution. 25813846

名称对应

Type IDs
Synonymous GEPH, GPH, GPHRYN, HKPX1, MOCODC
Gene
UniProtKB-ID: GEPH_HUMAN
UniprotKB: Q9NQX3
UniParc: UPI000012B3C7, UPI0000072592
EMBL: BC030016, AJ272343, AB037806, AJ272033, AF272663
Ensembl: ENSG00000171723
KO: hsa:10243
Nucleutide sequences
EMBL-CDS: BAA92623.1, AAH30016.1, CAC81240.1, CAC10537.1, AAF81785.1
Ensembl_TRS: ENST00000315266, ENST00000478722
Protein sequencees
Ensembl_PRO: ENSP00000417901, ENSP00000312771
RefSeq: NP_001364446.1, XP_011534645.1, XP_016876412.1, XP_016876415.1, NP_001364445.1, XP_016876409.1, XP_011534647.1, NP_001364447.1, NP_001364443.1, NP_001019389.1, NP_001364448.1, XP_011534646.1, NP_065857.1, XP_016876413.1, XP_016876407.1, XP_016876402.1, XP_016876403.1, XP_016876406.1, XP_016876411.1, NP_001364444.1, XP_011534642.1, XP_011534644.1, XP_016876410.1
Others
UniRef100: UniRef100_Q9NQX3
UniRef90: UniRef90_Q9NQX3
UniRef50: UniRef50_Q03555
UniGene: Hs.208765
CCDS: CCDS9777.1, CCDS32103.1

全选

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