Recombinant Human Gap junction alpha-5 protein (GJA5), partial

1. Atrial Fibrillation (AF)-linked Cx40 mutants impair gap junction and/or hemichannel function, which may predispose the mutant carriers to AF. PMID: 29587382
2. GJA5 gene rs35594137 polymorphism is significantly associated with sudden cardiac death in the examined group. PMID: 28577096
3. Missense polymorphism in GJA5 independently associated with increased risk for Complete heart block after surgical repair of Congenital Heart Disease. PMID: 27826129
4. Cx40 genetic polymorphisms increase atrial fibrillation risk in Uyghur and Han residents of Xinjiang. PMID: 27813566
5. Cx 40 (rs35594137) was associated with atrial fibrillation; in the Uygur population, Cx 40 (rs35594137) should be considered as an independent risk factor for patients with atrial fibrillation, who might have racial differences in rs35594137 variant frequencies PMID: 26634538
6. This is a review summarizing atrial fibrillation-linked somatic and germline mutations in the gene encoding Cx40. Multiple impairments were observed in these mutants, including impaired gap junction function by abnormal localization or function, as well as increased hemichannel function. PMID: 24656738
7. Human atrial myocytes express Cx40 and Cx43. However, in vitro expression study indicates that human Cx40 is not able to dock with Cx43 to form heterotypic gap junction channels. This study designed two Cx40 variants, D55N or P193Q. Both of them were successful in forming functional heterotypic gap junction channels with Cx43. PMID: 26625713
8. Two polymorphisms in the Cx40 promoter are associated with hypertension and left ventricular hypertrophy preferentially in men. PMID: 25992486
9. Report interaction between ALK1 signaling and connexin40 in the development of arteriovenous malformations. PMID: 26821948
10. Reduced Cx40 levels and heterogeneity of its distribution (relative to Cx43) are common in atrial fibrillation. PMID: 25200600
11. Two atrial fibrillation-linked germline Cx40 mutants, V85I and L221I, were investigated. PMID: 24733048
12. Degradation of a connexin40 mutant linked to atrial fibrillation is accelerated. PMID: 24973497
13. These findings provide evidence that the connexin 40 Q49X mutant is capable of impairing gap-junction distribution and function of key atrial connexins, which might play a role in the predisposition to and onset of atrial fibrillation. PMID: 24626989
14. heterozygous Cx40A96S mice exhibit prolonged episodes of induced atrial fibrillation and severely reduced atrial conduction velocities similar to the corresponding human patient. PMID: 24060583
15. 4 novel heterozygous GJA5 mutations, p.K107R, p.L223M, p.Q236H and p.I257L, were identified in 4 of 310 unrelated AF patients. PMID: 23292621
16. the germline familial mutations in Cx40 impair the gap junctions through different mechanisms, which may predispose the mutant carriers to AF. PMID: 23348765
17. Presence of the Cx40 minor allele (-44 G --> A) results in a uniform down-regulation of right atrial appendage Cx40 protein which was not significantly related to development of post-operative AF. PMID: 22423256
18. Pro265Ser variant in the carboxyl-terminus of connexin 40 alters GAP junctions and increases risk for tetralogy of Fallot. PMID: 22713807
19. Genotyping of rs10465885 showed that the patients with early-onset lone AF were more likely to carry the A allele compared with controls (odds ratio = 1.30; P = 0.011). PMID: 23040431
20. Cx40 coding SNPs are uncommon in atrial fibrillation populations, although rare mutations in this gene may lead to atrial fibrillation pathogenesis. PMID: 23134779
21. Results implicate GJA5 as the gene responsible for the congenital heart disease phenotypes observed with copy number imbalances at this locus. PMID: 22199024
22. our study could not detect an association of Cx40 promoter polymorphisms and CAD in human PMID: 22405441
23. This is the first evidence of intrinsic differences in the Ca2+ regulatory properties of Cx43 and Cx40. PMID: 22422398
24. Heteromeric cotransfection of Cx40-WT and Cx40-Q58L resulted in homogenous distribution of proteins in the plasma membrane rather than in membrane plaques in approximately 50% of cells; well-defined gap junctions were observed in other cells. PMID: 22247482
25. Regulation of endothelial connexin40 expression by shear stress via PI3K/Akt pathway. PMID: 22021330
26. Association between hereditary sick sinus node syndrome and connexin 40 gene polymorphism was demonstrated. PMID: 21649591
27. There is an alternate promoter polymorphism that directly affects levels of Cx40 mRNA in vivo and is associated with early-onset lone atrial fibrillation. PMID: 21076161
28. Three novel connexin40 mutations (p.V85I, p.L221I, and p.L229M) were identified which co-segregated with atrial fibrillation and were absent in the controls without atrial fibrillation. PMID: 20650941
29. In patients with cerebral ischemic events, without prior CVD, a higher prevalence of the Cx40 gene polymorphism, as a marker of underlying idiopathic atrial fibrillation appeared to be absent. PMID: 19494781
30. Data suggest that these dynamic changes of connexins 43, 40 and 45 during mouse cardiac development appear to be mirrored in the human. PMID: 12064615
31. Our data show that the presence of Cx40 does not allow GJIC and is associated with the extravillous phenotype PMID: 12397213
32. endothelial gap junction protein connexin 37 and connexin 40-mediated communication in the development and/or functional maintenance of segments of the mouse vasculature. PMID: 12435353
33. 505 CHD cases were screened for the Cx40 gene to see if altered copy number associated with a cardiac phenotype. 3 cases carred deletions on chromosome 1q21.1 spanning ACPL1, Cx40, and Cx50 genes, with aortic arch anomalies being a particular feature. PMID: 15117819
34. The -44A allele & -44AA genotype were significantly more frequent in subjects with prior AF than in those without, providing strong evidence linking Cx40 polymorphisms to enhanced atrial vulnerability and increased risk of AF. PMID: 15297374
35. Coinheritance of Cx40 polymorphisms is a possible genetic factor that modifies the clinical manifestation of this inherited arrhythmia. PMID: 16188595
36. We conclude that decidual secretion of growth factors, such as EGF, may act to prime trophoblast for migration/invasion through modulation of connexin expression and function. PMID: 16545451
37. there may be more than one conformation form of the connexin40 carboxyl tail with roles in atrial conduction and arrhythmogenesis PMID: 16600287
38. Cx40 polymorphisms are associated with enhanced spacial dispersion of refractoriness and thus with susceptibility to reentry and atrial fibrillation PMID: 16646598
39. Four novel heterozygous missense mutations were identified in 4 of the 15 patients. Mutations in GJA5 may predispose patients to idiopathic atrial fibrillation by impairing gap-junction assembly or electrical coupling. PMID: 16790700
40. The two SNPs in the promoter region of the Cx40 gene were significantly associated with atrial fibrillation and the Cx40 (-44A +71G) haplotype was associated with a higher risk for atrial fibrillation. PMID: 16814413
41. a cross-talk between CFTR and a variety of gap junction channels. Cytoskeletal scaffolding proteins and/or other intermediate cytoplasmic proteins are likely to play a role in CFTR-connexins interaction. PMID: 17546509

Show More

Hide All

HGNC: 4279

OMIM: 108770

KEGG: hsa:2702

STRING: 9606.ENSP00000271348

UniGene: Hs.447968