Property Summary

NCBI Gene PubMed Count 27
Grant Count 173
R01 Count 134
Funding $32,090,905.47
PubMed Score 308.56
PubTator Score 80.44

Knowledge Summary

Patent

No data available

Expression

  Differential Expression (7)

Disease log2 FC p
osteosarcoma 1.182 0.000
medulloblastoma, large-cell 1.400 0.001
adult high grade glioma 1.200 0.001
lung carcinoma 1.500 0.000
ovarian cancer 1.200 0.000
psoriasis -2.100 0.000
facioscapulohumeral dystrophy 2.500 0.000

Synonym

Accession Q9UKL4 Q2M241 Q9P2R0
Symbols CX36
GJA9

Gene

PANTHER Protein Class (2)

PDB

2N6A  

Gene RIF (21)

PMID Text
26485405 Genetic variants in ZC3H11B, RSPO1, and GJD2 are associated with susceptibility to the development of high myopia in a Han Chinese population.
26226778 It was shown that the decreased level of the examined neuronal proteins was accompanied by the impaired coexpression of synaptophysin/neurofilaments and Cx36 in the series of astrocytomas--anaplastic astrocytomas--glioblastomas.
23834555 In this study, there was no association of the analyzed SNPs located in RASGRF1. GJD2, and ACTC1 with pathological myopia.
23756480 Three SNP alleles in BRD2, Cx-36, and ME2 and microdeletions in 15q13.3, 15q11.2, and 16p13.11 also contribute risk to juvenile myclonic epilepsy.
22752717 Cx36 GJs are highly cation-selective and should exhibit relatively low permeability to numerous vital negatively charged metabolites and high permeability to potassium ion, a major charge carrier in cell-cell communication.
22288100 A polymorphism of Cx36 gene is associated to certain forms of human diabetes
20979653 connexin genes Gjd2 coding for mCx36, Gjc1 coding for mCx45 and Gja10 coding for mCx57 in the mouse, a subset of 4 connexin genes, including the unique GJA9 (Cx59) and GJA10 (Cx62), could be detected at least as transcript isoforms in the human retina.
20835239 Observational study and genome-wide association study of gene-disease association. (HuGE Navigator)
20835239 Variations in GJD2 is associated with refractive errors and myopia.
19418635 ZO-2 may serve to anchor regulatory proteins at gap junctions composed of Cx36.
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AA Sequence

MGEWTILERLLEAAVQQHSTMIGRILLTVVVIFRILIVAIVGETVYDDEQTMFVCNTLQPGCNQACYDRA      1 - 70
FPISHIRYWVFQIIMVCTPSLCFITYSVHQSAKQRERRYSTVFLALDRDPPESIGGPGGTGGGGSGGGKR     71 - 140
EDKKLQNAIVNGVLQNTENTSKETEPDCLEVKELTPHPSGLRTASKSKLRRQEGISRFYIIQVVFRNALE    141 - 210
IGFLVGQYFLYGFSVPGLYECNRYPCIKEVECYVSRPTEKTVFLVFMFAVSGICVVLNLAELNHLGWRKI    211 - 280
KLAVRGAQAKRKSIYEIRNKDLPRVSVPNFGRTQSSDSAYV                                 281 - 321
//

Publication (28)

PMID Year Title
26485405 2016 Association between Ocular Axial Length-Related Genes and High Myopia in a Han Chinese Population.
26226778 [The expression of connexin 36 and some neuroglial antigens in human brain astrocytic tumors of different grades].
25233373 2014 Genome-wide meta-analysis of myopia and hyperopia provides evidence for replication of 11 loci.
25138779 2015 Genome-wide association study of maternal and inherited effects on left-sided cardiac malformations.
24144296 2013 Nine loci for ocular axial length identified through genome-wide association studies, including shared loci with refractive error.
23834555 2015 Evaluating the association between pathological myopia and SNPs in RASGRF1. ACTC1 and GJD2 genes at chromosome 15q14 and 15q25 in a Chinese population.
23756480 2013 The quest for juvenile myoclonic epilepsy genes.
23396134 2013 Genome-wide meta-analyses of multiancestry cohorts identify multiple new susceptibility loci for refractive error and myopia.
22752717 2012 Neurons and ?-cells of the pancreas express connexin36, forming gap junction channels that exhibit strong cationic selectivity.
22288100 2010 [Cellular communication and regulation of insulin in the cell].
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