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10804 GJB6

10804

GJB6

gap junction protein beta 6

protein-coding

Homo sapiens

基因描述

Type Description
Definition gap junction protein beta 6

研究结论

Date Results Publications
2020-11-21 13:29:00 Role of GJB2 and GJB6 in Iranian Nonsyndromic Hearing Impairment: From Molecular Analysis to Literature Reviews. 31215297
2020-07-18 12:18:00 None of the patients had targeted deletions in the GJB6 gene. 31162818
2020-07-11 11:48:00 Study shows that Cx30 expression localized onto oligodendrocytes cells and myelinated fibers is decreased in deep cortical layers of the anterior cingulate cortex in male-depressed suicides. 31374562
2019-11-30 10:54:00 No deletion of GJB6 was detected in Algerian families with nonsyndromic hearing loss from Sahara and Kabylie regions. 31200317
2018-10-20 10:31:00 results showed the A88V and G11R mutants of GJB6 may activate the downstream execution factor, caspase-3, through the extrinsic apoptotic pathway mediated by caspase-8 and the intrinsic apoptotic pathway mediated by caspase-9; study provides further clarification on mechanisms underlying the effect of mutant variants A88V and G11R of the GJB6 gene on the induction of HaCaT cell apoptosis 30043857

名称对应

Type IDs
Synonymous CX30, DFNA3, DFNA3B, DFNB1B, ECTD2, ED2, EDH, HED, HED2
Gene
UniProtKB-ID: CXB6_HUMAN, A0A024RDS4_HUMAN
UniprotKB: O95452, A0A024RDS4
UniParc: UPI0000074737
EMBL: AY789475, BC038934, AK075247, AY789474, AJ005585, LT990254, AY297110, CH471075, AK289592, AL355984, AY789476
Ensembl: ENSG00000121742
KO: hsa:10804
Nucleutide sequences
EMBL-CDS: AAP51162.1, BAF82281.1, AAH38934.1, EAX08254.1, AAV67951.1, BAG52094.1, CAA06611.1, AAV67952.1, AAV67953.1, VZP20054.1, EAX08256.1, EAX08257.1, EAX08255.1, EAX08258.1
Gene_ORFName: hCG_1643047
Ensembl_TRS: ENST00000643121, ENST00000636852, ENST00000647243, ENST00000644283, ENST00000643211, ENST00000241124, ENST00000400066, ENST00000644667, ENST00000647029, ENST00000400065
Protein sequencees
Ensembl_PRO: ENSP00000382939, ENSP00000495320, ENSP00000382938, ENSP00000494733, ENSP00000241124, ENSP00000495841, ENSP00000493621, ENSP00000489698, ENSP00000494468, ENSP00000493834
RefSeq: NP_001357020.1, NP_001103691.1, NP_001357019.1, NP_001357021.1, NP_001103689.1, NP_006774.2, NP_001103690.1
Others
UniRef100: UniRef100_O95452
UniRef90: UniRef90_O95452
UniRef50: UniRef50_O95452
UniGene: Hs.511757
CCDS: CCDS9291.1

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