Homo sapiens Gene: GJB2
Summary
InnateDB Gene IDBG-13132.5
Last Modified 2012-02-14 [Report errors or provide feedback]
Gene Symbol GJB2
Gene Name gap junction protein, beta 2, 26kDa
Synonyms CX26; DFNA3; DFNA3A; DFNB1; DFNB1A; HID; KID; NSRD1; PPK;
Species Homo sapiens
Ensembl Gene ENSG00000165474
Encoded Proteins
gap junction protein, beta 2, 26kDa
gap junction protein, beta 2, 26kDa
Protein Structure
Entrez Gene
Summary 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 13:20761609-20767037
Strand Reverse strand
Band q12.11
Transcripts
ENST00000382848 ENSP00000372299
ENST00000382844 ENSP00000372295
Interactions
Number of Interactions This gene and/or its encoded proteins are associated with 9 experimentally validated interaction(s) in this database.
They are also associated with 1 interaction(s) predicted by orthology.
Experimentally validated
Total 9 [view]
Protein-Protein 8 [view]
Protein-DNA 1 [view]
Protein-RNA 0
DNA-DNA 0
RNA-RNA 0
DNA-RNA 0
Predicted by orthology
Total 1 [view]
Gene Ontology

Molecular Function
Accession GO Term
GO:0005243 gap junction channel activity
GO:0005515 protein binding
Biological Process
GO:0006810 transport
GO:0007267 cell-cell signaling
GO:0007605 sensory perception of sound
GO:0016044 cellular membrane organization
GO:0016264 gap junction assembly
GO:0030539 male genitalia development
Cellular Component
GO:0005793 endoplasmic reticulum-Golgi intermediate compartment
GO:0005886 plasma membrane
GO:0005921 gap junction
GO:0005922 connexon complex
GO:0016021 integral to membrane
GO:0016328 lateral plasma membrane
Orthologs
Species
Mus musculus
Bos taurus
Gene ID
Gene Order
Method
Confidence
Comments
Non-SSD Ortholog
Possible paralog/unusual divergence/ gene prediction error
Not yet available
Non-SSD Ortholog
Possible paralog/unusual divergence/ gene prediction error
Pathways
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
KEGG
INOH
PID BIOCARTA
PID NCI
Cross-References
SwissProt P29033
TrEMBL H9U1J4
UniProt Splice Variant
Entrez Gene 2706
UniGene Hs.524894 Hs.618929 Hs.714494
RefSeq NM_004004
HUGO 4284
OMIM 121011
CCDS CCDS9290
HPRD 00413
IMGT
EMBL AF281280 AF479776 AL138688 AY255853 AY275646 AY275647 AY275648 AY275649 AY275650 AY275651 AY275652 AY275653 AY275654 AY280971 AY953438 AY953441 BC017048 BC071703 BT006732 CH471075 JQ342677 JQ595559 M86849
GenPept AAD21314 AAF91440 AAH17048 AAH71703 AAL87696 AAP34178 AAP35378 AAQ17213 AAQ94940 AAQ94941 AAQ94942 AAQ94943 AAQ94944 AAQ94945 AAQ94946 AAQ94947 AAQ94948 AAY25169 AAY25170 AFG29040 AFG29041 CAC16959 EAX08252
ImmGen GJB2 (murine)
RNA Seq Atlas 2706