Bos taurus Gene: GJB2
Summary
InnateDB Gene IDBG-631326.3
Last Modified 2014-10-13 [Report errors or provide feedback]
Gene Symbol GJB2
Gene Name Gap junction beta-2 protein
Synonyms CX26
Species Bos taurus
Ensembl Gene ENSBTAG00000017425
Encoded Proteins
Gap junction beta-2 protein
Protein Structure
Useful resources Stemformatics EHFPI ImmGen
Entrez Gene
Summary This gene does not have any Entrez summary - the following is the summary from its human ortholog ENSG00000165474:
This gene encodes a member of the gap junction protein family. The gap junctions were first characterized by electron microscopy as regionally specialized structures on plasma membranes of contacting adherent cells. These structures were shown to consist of cell-to-cell channels that facilitate the transfer of ions and small molecules between cells. The gap junction proteins, also known as connexins, purified from fractions of enriched gap junctions from different tissues differ. According to sequence similarities at the nucleotide and amino acid levels, the gap junction proteins are divided into two categories, alpha and beta. Mutations in this gene are responsible for as much as 50% of pre-lingual, recessive deafness. [provided by RefSeq, Oct 2008]
This gene encodes a member of the gap junction protein family. The gap junctions were first characterized by electron microscopy as regionally specialized structures on plasma membranes of contacting adherent cells. These structures were shown to consist of cell-to-cell channels that facilitate the transfer of ions and small molecules between cells. The gap junction proteins, also known as connexins, purified from fractions of enriched gap junctions from different tissues differ. According to sequence similarities at the nucleotide and amino acid levels, the gap junction proteins are divided into two categories, alpha and beta. Mutations in this gene are responsible for as much as 50%% of pre-lingual, recessive deafness. [provided by RefSeq, Oct 2008]
Gene Information
Type Protein coding
Genomic Location Chromosome 12:36335916-36340957
Strand Forward strand
Band
Transcripts
ENSBTAT00000023167 ENSBTAP00000023167
Interactions
Number of Interactions This gene and/or its encoded proteins are associated with 0 experimentally validated interaction(s) in this database.
They are also associated with 6 interaction(s) predicted by orthology.
Predicted by orthology
Total 6 [view]
Gene Ontology

Molecular Function
Accession GO Term
GO:0005243 gap junction channel activity
GO:0005515 protein binding
Biological Process
GO:0007154 cell communication
GO:0007267 cell-cell signaling
GO:0007605 sensory perception of sound
GO:0055085 transmembrane transport
Cellular Component
GO:0005886 plasma membrane
GO:0005921 gap junction
GO:0005922 connexon complex
GO:0016020 membrane
GO:0016021 integral component of membrane
GO:0030054 cell junction
Orthologs
Species
Homo sapiens
Mus musculus
Gene ID
Gene Order
Pathways
NETPATH
REACTOME
Oligomerization of connexins into connexons pathway
Gap junction trafficking pathway
Gap junction assembly pathway
Gap junction trafficking and regulation pathway
Transport of connexins along the secretory pathway pathway
Transport of connexons to the plasma membrane pathway
Membrane Trafficking pathway
KEGG
INOH
PID NCI
Pathway Predictions based on Human Orthology Data
NETPATH
REACTOME
Transport of connexons to the plasma membrane pathway
Oligomerization of connexins into connexons pathway
Transport of connexins along the secretory pathway pathway
Gap junction assembly pathway
Gap junction trafficking pathway
Gap junction trafficking and regulation pathway
Membrane Trafficking pathway
Gap junction trafficking and regulation pathway
Gap junction assembly pathway
Membrane Trafficking pathway
Transport of connexins along the secretory pathway pathway
Transport of connexons to the plasma membrane pathway
Gap junction trafficking pathway
Oligomerization of connexins into connexons pathway
KEGG
INOH
PID NCI
Cross-References
SwissProt A2VE67
TrEMBL
UniProt Splice Variant
Entrez Gene 407154
UniGene Bt.64701
RefSeq NM_001083637
HUGO
OMIM
CCDS
HPRD
IMGT
EMBL BC133597
GenPept AAI33598
RNA Seq Atlas 407154