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Summary Expression Gene Literature (105) GO Terms (3) Nucleotides (413) Proteins (35) Interactants (231) Wiki
XB-GENEPAGE-481037
Gene Symbol:
gjb1

Gene Name:
gap junction protein beta 1

Synonyms:
connexin 32 , cx32 , cmtx , cmtx1 , cx30 , connexin-30 , connexin 30 , connexin32 ( Add synonyms , Nomenclature history )

Gene Function:
connexon channel component

Protein Function :
One gap junction consists of a cluster of closely packed pairs of transmembrane channels, the connexons, through which materials of low MW diffuse from one cell to a neighboring cell.



Interactants:
Loading ...

Diseases: 


Disease Ontology:
Charcot-Marie-Tooth disease X-linked dominant 1

OMIM:
CHARCOT-MARIE-TOOTH DISEASE, X-LINKED DOMINANT, 1; CMTX1

External Links:
 
Xenbase Gene ID XB-GENE-481038 XB-GENE-865435 XB-GENE-17342237
Gene Symbol gjb1 gjb1.L gjb1.S
Chromosome Chr08 chr8L chr8S
Molecules tropicalis laevis.L laevis.S
Genomic Sequence Version 9.1 Version 9.2 Version 9.2
CDS Gene model Gene model Gene model
Entrez Gene 407921
394373
108700063
mRNA RefSeq RefSeq
Protein RefSeq RefSeq
Genomic
tropicalis laevis.L laevis.S
Genome Browser
(Click image to open in Genome Browser)
Genomic Synteny Genomicus PANTHER
Expression                  Development Stages    Embryonic TissuesAdult Tissues
Summary for
More Information
Xenbase Expression Details In situ images Single cell data at SPRING Ensembl In situ: Single cell: RNA-Seq:
Proteomics tropicalis laevis.L laevis.S
Embryonic Protein Expression Stage profile:
Data Mining tropicalis laevis.L laevis.S
XenMine gjb1 gjb1.L gjb1.S
Orthology
Knowledgebases Entrez Gene Genetic Phenotypes Gene Expression
human
HGNC AGR, OMIM:Gene, GeneCards GJB1 OMIM Ensembl, Allen Brain Atlas, Protein Atlas
mouse
MGI, AGR Gjb1 MGI, IMPC Ensembl, Allen Brain Atlas, Eurexpress, MGI
rat
RGD, AGR Gjb1 Ensembl
zebrafish
ZFIN, AGR cx27.5 ZFIN Ensembl
chicken
GEISHA GJB1 Ensembl
fruit fly
worm
Publications
First Cloning and expression of a Xenopus embryonic gap junction protein., Science 1989  
Most Recent Structural determinants underlying permeant discrimination of the Cx43 hemichannel., J Biol Chem 2019                
All View All Papers 1 paper(s) referencing morpholinos 3 paper(s) referencing OMIMs 3 paper(s) referencing Disease Ontology
Functional Ontologies tropicalis laevis.L laevis.S
GO 3 terms 3 terms 0 term
PANTHER gjb1
KEGG Pathways K07620 K07620
KOG
Reagents tropicalis laevis.L laevis.S
CRISPRscan Tracks gjb1
ORFs gjb1 ORF1
Clones Horizon Source BioScience Horizon Source BioScience Horizon

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