Skip Navigation
NCI banner National Cancer Institute U.S. National Institutes of Health National Cancer Institute
Genes
  • Gene Tools
Cancer Genome Characterization Initiative

Visit the database of genomic characterization data for multiple tumor types.


Gene Info

Gene Information For:Hs. GJB2, gap junction protein, beta 2, 26kDa
Sequence ID:NM_004004
RefSeqGene ID:NG_008358
Entrez Gene ID:2706
Ensembl ID:ENSG00000165474

Database Links

UniGeneEntrez GeneOMIMEnsembl GeneHPRDVegaSNPSNP: GeneViewSNP: VarViewAssemblies

Gene Expression Data


Associated Diseases (from OMIM)

DiseaseOther Genes
BART-PUMPHREY SYNDROME 
DEAFNESS, AUTOSOMAL RECESSIVE 1AGJB3
GJB6
DEAFNESS, AUTOSOMALDOMINANT 3AGJB6
HYSTRIX-LIKE ICHTHYOSIS WITH DEAFNESS 
KERATITIS-ICHTHYOSIS-DEAFNESSSYNDROME 
KERATODERMA, PALMOPLANTAR, WITH DEAFNESS 
VOHWINKEL SYNDROME 

Cytogenetic Location (from UniGene)

Cytogenetic Location:13q11-q12Mitelman Breakpoint Data

Chromosomal Position (from UCSC)

Chromosomal Position:Unknown

NM_004004 exon info from UCSC:

Transcript StartTranscript EndChromosomal Start Chromosomal End
1821542076160520763741
215523472076692120767113

Full-Length MGC Clones for This Gene

IMAGE IdStatusAccession GenBank Def Line
3850394Full LengthBC017048gap junction protein, beta 2, 26kDa
5182353Full LengthBC071703gap junction protein, beta 2, 26kDa

Protein Infomation

RefSeq
mRNAProteinSwissProtPfam
NM_004004 NP_003995 P29033 Connexin

Related Sequences

 
mRNAGenPeptSwissProt
M86849 AAD21314 P29033
BC017048 AAH17048 P29033
BC071703 AAH71703 P29033
BT006732 AAP35378 P29033
DQ891797 ABM82723  
DQ894980 ABM85906  
JQ342677 AFG29040 H9U1J4
AK313595 BAG36361 B2R914

Homologs (from HomoloGene)
Note: Both orthologs and paralogs are included.
Organism Symbol Protein Homolog Similarity
(% aa unchanged)
Organism Symbol Entrez
Gene
Gene Info Protein
H.sapiens GJB2 NP_003995 R.norvegicus Gjb2 394266   NP_001004099 94
M.musculus Gjb2 14619 Gene Info NP_032151 93

Gene Ontology
Gene classification by the European Bioinformatics Institute, as recorded in GOA (GO Annotation@EBI)