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Cancer Genome Characterization Initiative

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


Gene Info

Gene Information For:Hs. GJB1, gap junction protein, beta 1, 32kDa
Sequence ID:NM_000166
NM_001097642
RefSeqGene ID:NG_008357
Entrez Gene ID:2705
Ensembl ID:ENSG00000169562

Database Links

UniGeneEntrez GeneOMIMEnsembl GeneHPRDVegaDTPSNPSNP: GeneViewSNP: VarViewAssembliesCancer AberrationsRNAi

Gene Expression Data


Associated Diseases (from OMIM)

DiseaseOther Genes
CHARCOT-MARIE-TOOTH NEUROPATHY, X-LINKED DOMINANT, 1 

Cytogenetic Location (from UniGene)

Cytogenetic Location:Xq13.1Mitelman Breakpoint Data

Chromosomal Position (from UCSC)

Chromosomal Position:X: 70443112 - 70444409

 Exon Info From UCSC:
NM_000166
NM_001097642

Full-Length MGC Clones for This Gene

IMAGE IdStatusAccession GenBank Def Line
3638623Full LengthBC002805gap junction protein, beta 1, 32kDa
4252281Full LengthBC022426gap junction protein, beta 1, 32kDa
4710239Full LengthBC039198gap junction protein, beta 1, 32kDa

Protein Similarities Based on Shared Motif Content

Find gene products sharing protein motifs with:  NP_000157  

Protein Infomation

RefSeq
mRNAProteinSwissProtPfam
NM_000166 NP_000157 P08034 Connexin
NM_001097642 NP_001091111    

Related Sequences

 
mRNAGenPeptSwissProt
BC002805 AAH02805 P08034
BC022426 AAH22426 P08034
BC039198 AAH39198 P08034
BT019329 AAV38136 P08034
DQ893515 ABM84441  
DQ896494 ABM87493  
AK313474 BAG36259 P08034
X04325 CAA27856 P08034

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 GJB1 NP_000157 M.musculus Gjb1 14618 Gene Info NP_032150 99
R.norvegicus Gjb1 29584   NP_058947 99

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