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Summary Expression Gene Literature (86) GO Terms (10) Nucleotides (373) Proteins (42) Interactants (348) Wiki
XB-GENEPAGE-955797
Gene Symbol:
gjb2

Gene Name:
gap junction protein beta 2

Synonyms:
cx26 , connexin-26 , connexin 26 , dfna3 , dfna3a , dfnb1 , dfnb1a , nsrd1 , ppk , cx29 ( 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:
X-linked nonsyndromic deafness [+]

OMIM:
DEAFNESS, X-LINKED 2; DFNX2 [+]

External Links:
1/2
 
Xenbase Gene ID XB-GENE-955798 XB-GENE-955804 XB-GENE-17336902
Gene Symbol gjb2 gjb2.L gjb2.S
Chromosome Chr02 chr2L chr2S
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 549738
380170
108709975
mRNA RefSeq RefSeq NCBI Nucleotide
Protein RefSeq RefSeq NCBI Protein
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 gjb2 gjb2.L gjb2.S
Orthology
Knowledgebases Entrez Gene Genetic Phenotypes Gene Expression
human
HGNC AGR, OMIM:Gene, GeneCards GJB2 OMIM Ensembl, Allen Brain Atlas, Protein Atlas
mouse
MGI, AGR Gjb2 MGI, IMPC Ensembl, Allen Brain Atlas, Eurexpress, MGI
rat
RGD, AGR Gjb2 Ensembl
zebrafish
cx31.7 Ensembl
chicken
GEISHA GJB2 Ensembl
fruit fly
worm
Publications
First Molecular cloning and characterization of a new member of the gap junction gene family, connexin-31., J Biol Chem 1991  
Most Recent The connexin26 human mutation N14K disrupts cytosolic intersubunit interactions and promotes channel opening., J Gen Physiol 2019  
All View All Papers 2 paper(s) referencing morpholinos 6 paper(s) referencing OMIMs 12 paper(s) referencing Disease Ontology
Functional Ontologies tropicalis laevis.L laevis.S
GO 10 terms 3 terms 3 terms
PANTHER gjb2
KEGG Pathways K07625 [+] K07625
KOG
Reagents tropicalis laevis.L laevis.S
CRISPRscan Tracks gjb2
ORFs gjb2.L ORF1
Clones Horizon Source BioScience EXRC Horizon Source BioScience Horizon

Symbol legend: Blast sequence    View sequence    Literature or expression images   Hover cursor for info   [+] Expand list
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