Property Summary

NCBI Gene PubMed Count 80
Grant Count 144
R01 Count 106
Funding $19,473,779.01
PubMed Score 356.58
PubTator Score 167.77

Knowledge Summary

Patent

No data available

Synonym

Accession P36382 Q5T3B6 Q5U0N6
Symbols CX40
ATFB11

Gene

PANTHER Protein Class (2)

Gene RIF (57)

PMID Text
26821948 Report interaction between ALK1 signaling and connexin40 in the development of arteriovenous malformations.
26634538 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
26625713 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.
25992486 Two polymorphisms in the Cx40 promoter are associated with hypertension and left ventricular hypertrophy preferentially in men.
25200600 Reduced Cx40 levels and heterogeneity of its distribution (relative to Cx43) are common in atrial fibrillation.
24973497 Degradation of a connexin40 mutant linked to atrial fibrillation is accelerated.
24733048 Two atrial fibrillation-linked germline Cx40 mutants, V85I and L221I, were investigated.
24656738 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.
24626989 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.
24060583 heterozygous Cx40A96S mice exhibit prolonged episodes of induced atrial fibrillation and severely reduced atrial conduction velocities similar to the corresponding human patient.
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AA Sequence

MGDWSFLGNFLEEVHKHSTVVGKVWLTVLFIFRMLVLGTAAESSWGDEQADFRCDTIQPGCQNVCYDQAF      1 - 70
PISHIRYWVLQIIFVSTPSLVYMGHAMHTVRMQEKRKLREAERAKEVRGSGSYEYPVAEKAELSCWEEGN     71 - 140
GRIALQGTLLNTYVCSILIRTTMEVGFIVGQYFIYGIFLTTLHVCRRSPCPHPVNCYVSRPTEKNVFIVF    141 - 210
MLAVAALSLLLSLAELYHLGWKKIRQRFVKPRQHMAKCQLSGPSVGIVQSCTPPPDFNQCLENGPGGKFF    211 - 280
NPFSNNMASQQNTDNLVTEQVRGQEQTPGEGFIQVRYGQKPEVPNGVSPGHRLPHGYHSDKRRLSKASSK    281 - 350
ARSDDLSV                                                                  351 - 358
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Text Mined References (79)

PMID Year Title
26821948 2016 Interaction Between ALK1 Signaling and Connexin40 in the Development of Arteriovenous Malformations.
26634538 2015 A study of the association between the connexin 40 rs35594137 polymorphism and atrial fibrillation in Xinjiang Chinese Han and Uygur populations.
26625713 2016 Engineered Cx40 variants increased docking and function of heterotypic Cx40/Cx43 gap junction channels.
25992486 2015 Two polymorphisms in the Cx40 promoter are associated with hypertension and left ventricular hypertrophy preferentially in men.
25200600 2014 Connexin40 abnormalities and atrial fibrillation in the human heart.
24973497 2014 Degradation of a connexin40 mutant linked to atrial fibrillation is accelerated.
24733048 2014 Atrial fibrillation-linked germline GJA5/connexin40 mutants showed an increased hemichannel function.
24722188 2014 Protein interaction network of alternatively spliced isoforms from brain links genetic risk factors for autism.
24656738 2014 Atrial fibrillation-linked GJA5/connexin40 mutants impaired gap junctions via different mechanisms.
24626989 2014 An atrial-fibrillation-linked connexin40 mutant is retained in the endoplasmic reticulum and impairs the function of atrial gap-junction channels.
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