Atlas of Genetics and Cytogenetics in Oncology and Haematology


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GJB1 (gap junction protein, beta 1, 32kDa)

Identity

Other namesCMTX
CMTX1
CX32
HGNC (Hugo) GJB1
LocusID (NCBI) 2705
Location Xq13.1
Location_base_pair Starts at 70443056 and ends at 70445065 bp from pter ( according to hg19-Feb_2009)
Note

Non-annotated gene. Preliminary data : if you are an author
who wish to write a full paper/card on this gene, go to  How to contribute

DNA/RNA

 

External links

Nomenclature
HGNC (Hugo)GJB1   4283
Cards
Entrez_Gene (NCBI)GJB1  2705  gap junction protein, beta 1, 32kDa
GeneCards (Weizmann)GJB1
Ensembl (Hinxton)ENSG00000169562 [Gene_View]  chrX:70443056-70445065 [Contig_View]  GJB1 [Vega]
AceView (NCBI)GJB1
Genatlas (Paris)GJB1
WikiGenes2705
SOURCE (Princeton)NM_000166 NM_001097642
Genomic and cartography
GoldenPath (UCSC)GJB1  -  Xq13.1   chrX:70443056-70445065 +  Xq13.1   [Description]    (hg19-Feb_2009)
EnsemblGJB1 - Xq13.1 [CytoView]
Mapping of homologs : NCBIGJB1 [Mapview]
OMIM302800   304040   
Gene and transcription
Genbank (Entrez)AA041403 AK313474 BC002805 BC022426 BC039198
RefSeq transcript (Entrez)NM_000166 NM_001097642
RefSeq genomic (Entrez)AC_000155 NC_000023 NC_018934 NG_008357 NT_011669 NW_001842373 NW_004929443
Consensus coding sequences : CCDS (NCBI)GJB1
Cluster EST : UnigeneHs.333303 [ NCBI ]
CGAP (NCI)Hs.333303
Alternative Splicing : Fast-db (Paris)GSHG0031608
Alternative Splicing GalleryENSG00000169562
Gene ExpressionGJB1 [ NCBI-GEO ]     GJB1 [ SEEK ]   GJB1 [ MEM ]
Protein : pattern, domain, 3D structure
UniProt/SwissProtP08034 (Uniprot)
NextProtP08034  [Medical]
With graphics : InterProP08034
Splice isoforms : SwissVarP08034 (Swissvar)
Domaine pattern : Prosite (Expaxy)CONNEXINS_1 (PS00407)    CONNEXINS_2 (PS00408)   
Domains : Interpro (EBI)Connexin    Connexin32    Connexin_CCC    Connexin_CS    Connexin_N   
Related proteins : CluSTrP08034
Domain families : Pfam (Sanger)Connexin (PF00029)    Connexin_CCC (PF10582)   
Domain families : Pfam (NCBI)pfam00029    pfam10582   
Domain families : Smart (EMBL)CNX (SM00037)  Connexin_CCC (SM01089)  
DMDM Disease mutations2705
Blocks (Seattle)P08034
PDB (SRS)1TXH   
PDB (PDBSum)1TXH   
PDB (IMB)1TXH   
PDB (RSDB)1TXH   
Human Protein AtlasENSG00000169562
Peptide AtlasP08034
HPRD02367
IPIIPI00027190   IPI00640484   
Protein Interaction databases
DIP (DOE-UCLA)P08034
IntAct (EBI)P08034
FunCoupENSG00000169562
BioGRIDGJB1
InParanoidP08034
Interologous Interaction database P08034
IntegromeDBGJB1
STRING (EMBL)GJB1
Ontologies - Pathways
Ontology : AmiGOgap junction channel activity  endoplasmic reticulum membrane  connexon complex  transport  cell-cell signaling  nervous system development  purine ribonucleotide transport  integral to membrane  gap junction assembly  protein homodimerization activity  protein oligomerization  
Ontology : EGO-EBIgap junction channel activity  endoplasmic reticulum membrane  connexon complex  transport  cell-cell signaling  nervous system development  purine ribonucleotide transport  integral to membrane  gap junction assembly  protein homodimerization activity  protein oligomerization  
REACTOMEGJB1
Protein Interaction DatabaseGJB1
Wikipedia pathwaysGJB1
Gene fusion - rearrangments
Polymorphisms : SNP, mutations, diseases
SNP Single Nucleotide Polymorphism (NCBI)GJB1
SNP (GeneSNP Utah)GJB1
SNP : HGBaseGJB1
Genetic variants : HAPMAPGJB1
1000_GenomesGJB1 
ICGC programENSG00000169562 
Somatic Mutations in Cancer : COSMICGJB1 
CONAN: Copy Number AnalysisGJB1 
Mutations and Diseases : HGMDGJB1
OMIM302800    304040   
GENETestsGJB1
Disease Genetic AssociationGJB1
Huge Navigator GJB1 [HugePedia]  GJB1 [HugeCancerGEM]
Genomic VariantsGJB1  GJB1 [DGVbeta]
Exome VariantGJB1
dbVarGJB1
ClinVarGJB1
snp3D : Map Gene to Disease2705
General knowledge
Homologs : HomoloGeneGJB1
Homology/Alignments : Family Browser (UCSC)GJB1
Phylogenetic Trees/Animal Genes : TreeFamGJB1
Chemical/Protein Interactions : CTD2705
Chemical/Pharm GKB GenePA28694
Clinical trialGJB1
Cancer Resource (Charite)ENSG00000169562
Other databases
Probes
Litterature
PubMed174 Pubmed reference(s) in Entrez
CoreMineGJB1
iHOPGJB1
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

Search in all EBI   NCBI

Contributor(s)

Written09-2002Dessen P, Le Minor S
Updated12-2013Dessen P

© Atlas of Genetics and Cytogenetics in Oncology and Haematology
indexed on : Mon Mar 31 09:32:05 CEST 2014

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