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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 and identical protein binding activity. Predicted to be involved in cell-cell signaling. Predicted to localize to connexin complex and cytoplasm. 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)
Chlorocebus sabaeus (African green monkey) : GJB1 (gap junction protein beta 1)
Heterocephalus glaber (naked mole-rat) : 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
GRCh38.p13 EnsemblX71,215,194 - 71,225,516 (+)EnsemblGRCh38hg38GRCh38
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

RNA-SEQ Expression

Sequence

Nucleotide Sequences
Protein Sequences
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Clinical Variants