例如:"NBL1", "4681", "drought"
收藏
2703 GJA8

2703

GJA8

gap junction protein alpha 8

protein-coding

Homo sapiens

基因描述

Type Description
Definition gap junction protein alpha 8

研究结论

Date Results Publications
2021-03-27 14:42:00 Whole Exome Sequencing Reveals Novel and Recurrent Disease-Causing Variants in Lens Specific Gap Junctional Protein Encoding Genes Causing Congenital Cataract. 32384692
2021-02-27 13:47:00 Lens Connexin Channels Show Differential Permeability to 32971763
2020-12-05 13:00:00 Connexin43 and connexin50 channels exhibit different permeability to the second messenger inositol triphosphate. 32457413
2020-11-21 13:14:00 GJA8 missense mutation disrupts hemichannels and induces cell apoptosis in human lens epithelial cells. 31844091
2020-07-04 10:22:00 The study identified a novel cataract phenotype caused by the p.R76H mutation in Cx50, providing evidence of further phenotypic heterogeneity associated with this mutation. 30928190

名称对应

Type IDs
Synonymous CAE, CAE1, CTRCT1, CX50, CZP1, MP70
Gene
UniProtKB-ID: CXA8_HUMAN, X5D7G1_HUMAN
UniprotKB: P48165, X5D7G1
UniParc: UPI0000049BA0
EMBL: AL445591, KJ534845, EF672108, U34802, LT990261, AF217524
Ensembl: ENSG00000121634
KO: hsa:2703
Nucleutide sequences
EMBL-CDS: AAF32309.1, CAH72387.1, AAA77062.1, ABS11172.1, AHW56485.1, VZP20061.1
Ensembl_TRS: ENST00000369235
Protein sequencees
Ensembl_PRO: ENSP00000358238
RefSeq: XP_011507719.1, NP_005258.2
Others
UniRef100: UniRef100_P48165
UniRef90: UniRef90_P48165
UniRef50: UniRef50_P48165
UniGene: Hs.632441
CCDS: CCDS30834.1

全选

{{proteinIndex+1}}
mRNA Protein UniprotKB Description
Refseq {{protein.nucleotideVersion}}

Ensembl: {{protein.nucleotideEnsembl}}

{{protein.proteinVersion}}

Ensembl: {{protein.proteinEnsembl}}

{{uniprot}}
Definition: {{{protein.definition}}}

Transcript Veriant:{{protein.transcriptVeriant}}

Status: {{protein.status}}

Location ( {{protein.positionStart}}..{{protein.positionEnd}} )

暂无数据

研究热度

热点单位
排名 科研单位 文献
{{affIndex+1}}

{{aff.value}}

{{aff.size}}

目前还没有研究热点单位

热点人员
排名 研究人员 文献
{{authorIndex+1}}

{{author.value}}

{{author.size}}

目前还没有研究热点人员