Property Summary

NCBI Gene PubMed Count 185
Grant Count 213
R01 Count 132
Funding $33,200,219.87
PubMed Score 812.80
PubTator Score 556.69

Knowledge Summary

Patent

No data available

Expression

  Differential Expression (8)

Disease log2 FC p
osteosarcoma 1.344 0.000
pancreatic ductal adenocarcinoma liver m... -1.009 0.030
lung cancer 2.200 0.000
subependymal giant cell astrocytoma -1.515 0.013
lung adenocarcinoma 1.200 0.029
ulcerative colitis -1.200 0.000
ovarian cancer 1.500 0.000
pancreatic cancer -1.200 0.008

Synonym

Accession P08034 B2R8R2 D3DVV2 Q5U0S4
Symbols CMTX
CX32
CMTX1

Gene

PANTHER Protein Class (2)

PDB

1TXH  

Gene RIF (111)

PMID Text
25771809 Complete loss of connexin32 function is sufficient to produce central nervous system dysfunction with clinical manifestations.
25595958 A novel point mutation in GJB1 was detected, expanding the spectrum of GJB1 mutations known to be associated with CMTX.
25548281 findings suggest that the cytoplasmic tail of Cx32 may be involved in regulating the permeability of gap junctions by regulating their size.
25524707 Transgenic expression of hCx32 in Cx32/Cx47dKO mice resulted in almost complete rescue of behavioral abnormalities in a hypomyelinating leukodystrophy model.
25270527 This study reveals for the first time that Cx43 and Cx32 are down-regulated in keratocystic odontogenic tumours
25206281 Cx32 and Cx43 mRNA expression decreased gradually during H. pylori infection-associated gastric carcinogenesis, and it is associated with hypermethylation of these genes' promoter.
25171777 Blockade of endothelial Cx32 increased tissue factor expression induced by TNF-alpha stimulation and cell-cell interaction via ICAM1. Direct Cx32-mediated interaction modulates TF expression in ECs during vascular inflammation.
24819634 No mutations were found in GJB1 in a cohort of 38 Italian CMT2 patients.
24768312 This study reported four novel mutations, c.191G > A, c.508G > T, c.778A > G and c.300C > G of GJB1 in four Greek families with variable clinical features and mild clinical CNS manifestations in three of them.
24333598 Eendothelial Cx32 positively regulates angiogenesis by enhancing endothelial cell tube formation and cell migration.
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AA Sequence

MNWTGLYTLLSGVNRHSTAIGRVWLSVIFIFRIMVLVVAAESVWGDEKSSFICNTLQPGCNSVCYDQFFP      1 - 70
ISHVRLWSLQLILVSTPALLVAMHVAHQQHIEKKMLRLEGHGDPLHLEEVKRHKVHISGTLWWTYVISVV     71 - 140
FRLLFEAVFMYVFYLLYPGYAMVRLVKCDVYPCPNTVDCFVSRPTEKTVFTVFMLAASGICIILNVAEVV    141 - 210
YLIIRACARRAQRRSNPPSRKGSGFGHRLSPEYKQNEINKLLSEQDGSLKDILRRSPGTGAGLAEKSDRC    211 - 280
SAC                                                                       281 - 283
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Text Mined References (191)

PMID Year Title
27234031 2016 Improved diagnostic yield of neuromuscular disorders applying clinical exome sequencing in patients arising from a consanguineous population.
25771809 2015 A start codon CMT1X mutation associated with transient encephalomyelitis causes complete loss of Cx32.
25595958 2015 A novel mutation in GJB1 (c.212T>G) in a Chinese family with X-linked Charcot-Marie-Tooth disease.
25548281 2015 The carboxyl tail of connexin32 regulates gap junction assembly in human prostate and pancreatic cancer cells.
25524707 2015 Transgenic replacement of Cx32 in gap junction-deficient oligodendrocytes rescues the phenotype of a hypomyelinating leukodystrophy model.
25270527 2015 Down-regulation of connexin43 and connexin32 in keratocystic odontogenic tumours: potential association with clinical features.
25206281 2014 Connexin 32 and 43 promoter methylation in Helicobacter pylori-associated gastric tumorigenesis.
25171777 2014 Endothelial connexin 32 regulates tissue factor expression induced by inflammatory stimulation and direct cell-cell interaction with activated cells.
24819634 2014 Mutation analysis of MFN2, GJB1, MPZ and PMP22 in Italian patients with axonal Charcot-Marie-Tooth disease.
24768312 2014 Four novel connexin 32 mutations in X-linked Charcot-Marie-Tooth disease. Phenotypic variability and central nervous system involvement.
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