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57165 GJC2

57165

GJC2

gap junction protein gamma 2

protein-coding

Homo sapiens

基因描述

Type Description
Definition gap junction protein gamma 2

研究结论

Date Results Publications
2020-02-01 10:10:00 The expression of the transcription factors Foxc2 and Nfatc1 and the gap junction proteins Gjc2, Gja1, and Gja4 were temporospatially regulated during this process. 28724617
2019-02-02 10:47:00 Connexin 43-connexin 47 channels are important for astrocyte/ oligodendrocyte cross-talk in myelination and demyelination. (Review) 30541963
2018-08-04 11:52:00 Different mutations in the Cx47 lead to discrepant activation of unfolded protein response (UPR) pathway, which encouraged apoptotic cell death at different levels. Inappropriate activation of UPR may play important roles in the pathophysiology of Pelizaeus-Merzbacher-Like Disease. 28712094
2015-02-14 13:33:00 GJC2 promoter region mutation screening should be included in the evaluation of patients with unexplained hypomyelinating leukodystrophies. 24374284
2014-04-12 12:23:00 we provide evidence that a mutation in GJA1 leads not only to ODD as already described in the literature, but can also lead to lymphoedema as an associated feature. 23550541

名称对应

Type IDs
Synonymous CX46.6, Cx47, GJA12, HLD2, LMPH1C, LMPHM3, PMLDAR, SPG44
Gene
UniProtKB-ID: CXG2_HUMAN, A0A654IBV7_HUMAN
UniprotKB: Q5T442, A0A654IBV7
UniParc: UPI000034ECE8
EMBL: CH471098, BC089439, LT990264, AL359510, BC035840, AY285161, AF014643
Ensembl: ENSG00000198835
KO: hsa:57165
Nucleutide sequences
EMBL-CDS: AAH89439.1, AAP37488.1, AAB94511.1, AAH35840.1, VZP20064.1, EAW69860.1
Gene_ORFName: hCG_2036603
Ensembl_TRS: ENST00000366714
Protein sequencees
Ensembl_PRO: ENSP00000355675
RefSeq: NP_065168.2
Others
UniRef100: UniRef100_Q5T442
UniRef90: UniRef90_Q5T442
UniRef50: UniRef50_Q5T442
UniGene: Hs.100072, Hs.743715
CCDS: CCDS1569.1

全选

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