Property Summary

NCBI Gene PubMed Count 27
PubMed Score 308.56
PubTator Score 80.44

Knowledge Summary

Patent

No data available

TINX Plot

  Disease (3)

Disease Target Count
Myopia 99
Refractive Errors 18
Disease Target Count Z-score Confidence
Epilepsy 346 4.312 2.2

Expression

  Differential Expression (7)

Disease log2 FC p
osteosarcoma 1.182 1.1e-05
medulloblastoma, large-cell 1.400 7.1e-04
adult high grade glioma 1.200 1.1e-03
lung carcinoma 1.500 2.4e-23
ovarian cancer 1.200 2.3e-10
psoriasis -2.100 7.5e-07
facioscapulohumeral dystrophy 2.500 4.1e-05

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.
19095792 CaMKII and Cx36 were shown to be significantly colocalized in the inferior olive, a brainstem nucleus highly enriched in electrical synapses, indicating physical proximity of these proteins
19000992 The data show that Cx36 is a native protein of human pancreatic islets, which mediates the coupling of the insulin-producing beta-cells, and contributes to control beta-cell function by modulating gene expression.
17828386 Beta cells are extensively coupled within pancreatic islets via exchanges of mostly positively charged molecules across Cx36 channels.
17427027 These data do not suggest that Panx2 or Cx36 could increase the risk of schizophrenia in the Japanese population.
16876983 The present results provide confirmatory evidence for an allelic and genotypic association of the CX36 gene with juvenile myoclonic epilepsy.
16211561 Intercellular coupling occurs between neuronal and microglial populations through Cx36 gap junctions; This has important implications for normal neural physiology and microglial responses in neuronopathology in the mammalian CNS.
15235036 significant association between juvenile myoclonic epilepsy and a Polymorphism, Single Nucleotide within exon 2 of CX36.
15116387 Results of reporter gene analysis of Cx36 expression in transgenic mice suggest that Cx36 has functional roles not only in several types of neurons in the retina and central nervous system but also in excitable cells of the pancreas and adrenal gland.
15083701 35delG mutation of the GJB2 gne is a risk for deafness
14565956 connexin 36 expression is regulated by the transcriptional repressor NRSF/REST
12522556 Mutations in the calcium-binding motifs of CDH23 and the 35delG mutation in GJB2 cause hearing loss in one family

AA Sequence

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

Text Mined References (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].
20979653 2010 Expression of connexin genes in the human retina.
20835239 2010 A genome-wide association study identifies a susceptibility locus for refractive errors and myopia at 15q14.
19418635 Direct association of connexin36 with zonula occludens-2 and zonula occludens-3.
19095792 2008 The neuronal connexin36 interacts with and is phosphorylated by CaMKII in a way similar to CaMKII interaction with glutamate receptors.
19000992 2009 Cx36 makes channels coupling human pancreatic beta-cells, and correlates with insulin expression.
17828386 2007 Beta cells preferentially exchange cationic molecules via connexin 36 gap junction channels.
17427027 2007 Gap junction coding genes and schizophrenia: a genetic association study.
16876983 2006 Confirmatory evidence for an association of the connexin-36 gene with juvenile myoclonic epilepsy.
16211561 2005 Human and mouse microglia express connexin36, and functional gap junctions are formed between rodent microglia and neurons.
15489334 2004 The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).
15235036 2004 Association of the connexin36 gene with juvenile myoclonic epilepsy.
15116387 2004 Expression pattern of lacZ reporter gene representing connexin36 in transgenic mice.
15083701 2004 Neonatal detection of the 35delG mutation of the GJB2 gene in families at risk for deafness.
15014171 2004 Human-specific amino acid changes found in 103 protein-coding genes.
14565956 2003 Critical role of the transcriptional repressor neuron-restrictive silencer factor in the specific control of connexin36 in insulin-producing cell lines.
12522556 2003 Mutations in the calcium-binding motifs of CDH23 and the 35delG mutation in GJB2 cause hearing loss in one family.
12477932 2002 Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences.
10462698 1999 Structure, chromosomal localization, and brain expression of human Cx36 gene.