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Gene: GJB1 (gap junction protein beta 1) Homo sapiens
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Symbol: GJB1
Name: gap junction protein beta 1
Description: Predicted to have gap junction channel activity. Predicted to be involved in cell-cell signaling; gap junction assembly; and nervous system development. Predicted to localize to the endoplasmic reticulum membrane. Implicated in Charcot-Marie-Tooth disease X-linked dominant 1.
Type: protein-coding
RefSeq Status: REVIEWED
Also known as: CMTX; CMTX1; connexin 32; connexin-32; CX32; GAP junction 28 kDa liver protein; gap junction beta-1 protein; gap junction membrane channel protein beta 1; gap junction protein, beta 1, 32kDa
Orthologs:
Mus musculus (house mouse) : Gjb1 (gap junction protein, beta 1)  MGI  Alliance
Rattus norvegicus (Norway rat) : Gjb1 (gap junction protein, beta 1)  Alliance
Chinchilla lanigera (long-tailed chinchilla) : Gjb1 (gap junction protein beta 1)
Pan paniscus (bonobo/pygmy chimpanzee) : GJB1 (gap junction protein beta 1)
Canis lupus familiaris (dog) : GJB1 (gap junction protein beta 1)
Ictidomys tridecemlineatus (thirteen-lined ground squirrel) : Gjb1 (gap junction protein beta 1)
Sus scrofa (pig) : GJB1 (gap junction protein beta 1)
more info ...
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38X71,215,212 - 71,225,516 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh37X70,435,062 - 70,445,065 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 36X70,351,787 - 70,361,777 (+)NCBINCBI36hg18NCBI36
Build 34X70,226,096 - 70,228,065NCBI
CeleraX70,788,947 - 70,798,946 (+)NCBI
Cytogenetic MapXq13.1NCBI
HuRefX64,252,835 - 64,262,404 (+)NCBIHuRef
CHM1_1X70,328,093 - 70,338,111 (+)NCBICHM1_1
JBrowse: View Region in Genome Browser (JBrowse)
Model


Disease Annotations
Gene-Chemical Interaction Annotations
Gene Ontology Annotations
Phenotype Annotations
References - curated
References - uncurated

Genomics

Comparative Map Data
Position Markers
miRNA Target Status

Expression


Sequence

Nucleotide Sequences
Protein Sequences
Promoters
Clinical Variants

Additional Information

External Database Links
Nomenclature History
 
More on GJB1
Alliance Gene
NCBI Gene
Ensembl Gene
JBrowse: hg19 hg38
HGNC Report
NCBI Genome Data Viewer

RGD Object Information
RGD ID: 732555
Created: 2004-01-12
Species: Homo sapiens
Last Modified: 2019-11-26
Status: ACTIVE



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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.