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Aliases for GJB1 Gene

Aliases for GJB1 Gene

  • Gap Junction Protein, Beta 1, 32kDa 2 3
  • GAP Junction 28 KDa Liver Protein 3 4
  • Connexin 32 2 3
  • Connexin-32 3 4
  • CX32 3 4
  • Gap Junction Protein, Beta 1, 32kDa (Connexin 32, Charcot-Marie-Tooth Neuropathy, X-Linked) 2
  • Gap Junction Protein, Beta 1, 32kD (Connexin 32, Charcot-Marie-Tooth Neuropathy, X-Linked) 2
  • Gap Junction Protein, Beta 1, 32kDa (Connexin 32) 2
  • Charcot-Marie-Tooth Neuropathy 2
  • X-Linked 2
  • CMTX1 3
  • CMTX 3

External Ids for GJB1 Gene

Previous HGNC Symbols for GJB1 Gene

  • CMTX1
  • CMTX

Previous GeneCards Identifiers for GJB1 Gene

  • GC0XP066608
  • GC0XP067912
  • GC0XP068668
  • GC0XP069301
  • GC0XP070218
  • GC0XP070351
  • GC0XP070435
  • GC0XP064252

Summaries for GJB1 Gene

Entrez Gene Summary for GJB1 Gene

  • This gene encodes a member of the gap junction protein family. The gap junction proteins are membrane-spanning proteins that assemble to form gap junction channels that facilitate the transfer of ions and small molecules between cells. According to sequence similarities at the nucleotide and amino acid levels, the gap junction proteins are divided into two categories, alpha and beta. Mutations in this gene cause X-linked Charcot-Marie-Tooth disease, an inherited peripheral neuropathy. Alternatively spliced transcript variants encoding the same protein have been found for this gene. [provided by RefSeq, Oct 2008]

GeneCards Summary for GJB1 Gene

GJB1 (Gap Junction Protein, Beta 1, 32kDa) is a Protein Coding gene. Diseases associated with GJB1 include charcot-marie-tooth disease and charcot-marie-tooth neuropathy, x-linked dominant, 1. Among its related pathways are Neural Crest Differentiation and Vesicle-mediated transport. GO annotations related to this gene include protein homodimerization activity. An important paralog of this gene is GJB3.

UniProtKB/Swiss-Prot for GJB1 Gene

  • One gap junction consists of a cluster of closely packed pairs of transmembrane channels, the connexons, through which materials of low MW diffuse from one cell to a neighboring cell

Tocris Summary for GJB1 Gene

  • Gap channels (gap junctions) are specialized cell-cell contacts that provide direct intracellular communication. They allow passive diffusion of molecules up to 1 kDa, including nutrients, metabolites (glucose), ions (K+, Ca2+) and second messengers (IP3, cAMP).

Gene Wiki entry for GJB1 Gene

No data available for PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for GJB1 Gene

Genomics for GJB1 Gene

Regulatory Elements for GJB1 Gene

Genomic Location for GJB1 Gene

71,215,194 bp from pter
71,225,516 bp from pter
10,323 bases
Plus strand

Genomic View for GJB1 Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for GJB1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for GJB1 Gene

Proteins for GJB1 Gene

  • Protein details for GJB1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Recommended name:
    Gap junction beta-1 protein
    Protein Accession:
    Secondary Accessions:
    • B2R8R2
    • D3DVV2
    • Q5U0S4

    Protein attributes for GJB1 Gene

    283 amino acids
    Molecular mass:
    32025 Da
    Quaternary structure:
    • A connexon is composed of a hexamer of connexins. Interacts with CNST (By similarity).

    Three dimensional structures from OCA and Proteopedia for GJB1 Gene

neXtProt entry for GJB1 Gene

Proteomics data for GJB1 Gene at MOPED

Post-translational modifications for GJB1 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for GJB1 Gene

Antibody Products

No data available for DME Specific Peptides for GJB1 Gene

Domains & Families for GJB1 Gene

Gene Families for GJB1 Gene

Suggested Antigen Peptide Sequences for GJB1 Gene

Graphical View of Domain Structure for InterPro Entry



  • Belongs to the connexin family. Beta-type (group I) subfamily.
  • Belongs to the connexin family. Beta-type (group I) subfamily.
genes like me logo Genes that share domains with GJB1: view

Function for GJB1 Gene

Molecular function for GJB1 Gene

GENATLAS Biochemistry:
gap junction protein,beta 1,32kDa,expressed in liver,thyroid,peripheral nervous sytem,connexin 32,monomer of the connexon (six subunits including GJA3,GJA8,GJB1,GJB2),phosphorylated by EGFR,involved in the auditory pathway and in interactions axon Schwann cell with defective interaction,potentially inducing axonopathy in CMTX1
UniProtKB/Swiss-Prot Function:
One gap junction consists of a cluster of closely packed pairs of transmembrane channels, the connexons, through which materials of low MW diffuse from one cell to a neighboring cell

Gene Ontology (GO) - Molecular Function for GJB1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005243 gap junction channel activity IEA --
GO:0042803 protein homodimerization activity IEA --
genes like me logo Genes that share ontologies with GJB1: view
genes like me logo Genes that share phenotypes with GJB1: view

Animal Models for GJB1 Gene

MGI Knock Outs for GJB1:

miRNA for GJB1 Gene

miRTarBase miRNAs that target GJB1

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for GJB1

In Situ Assay Products

Flow Cytometry Products

No data available for Enzyme Numbers (IUBMB) , Transcription Factor Targets and HOMER Transcription for GJB1 Gene

Localization for GJB1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for GJB1 Gene

Cell membrane; Multi-pass membrane protein. Cell junction, gap junction.

Subcellular locations from

Jensen Localization Image for GJB1 Gene COMPARTMENTS Subcellular localization image for GJB1 gene
Compartment Confidence
plasma membrane 5
endoplasmic reticulum 4
cytoskeleton 2
extracellular 2
golgi apparatus 2
cytosol 1
mitochondrion 1
nucleus 1

Gene Ontology (GO) - Cellular Components for GJB1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005737 cytoplasm --
GO:0005783 endoplasmic reticulum --
GO:0005789 endoplasmic reticulum membrane TAS --
GO:0005886 plasma membrane --
GO:0005921 gap junction --
genes like me logo Genes that share ontologies with GJB1: view

Pathways & Interactions for GJB1 Gene

genes like me logo Genes that share pathways with GJB1: view

Pathways by source for GJB1 Gene

PCR Array Products

Gene Ontology (GO) - Biological Process for GJB1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006810 transport TAS 2875078
GO:0007154 cell communication --
GO:0007267 cell-cell signaling TAS 8266101
GO:0007399 nervous system development TAS 8266101
GO:0015868 purine ribonucleotide transport IEA --
genes like me logo Genes that share ontologies with GJB1: view

No data available for SIGNOR curated interactions for GJB1 Gene

Drugs & Compounds for GJB1 Gene

(20) Drugs for GJB1 Gene - From: NovoSeek, IUPHAR, DGIdb, and Tocris

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Progesterone Approved Pharma Inhibition, Pore Blocker Endogenous progesterone receptor agonist 473
Carbenoxolone Experimental Pharma Inhibitor 0
Flufenamic Acid Experimental Pharma Channel blocker 0
Forskolin Experimental Pharma 0
Potassium Experimental Pharma 0

(4) Additional Compounds for GJB1 Gene - From: NovoSeek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
retinoic acid
genes like me logo Genes that share compounds with GJB1: view

Transcripts for GJB1 Gene

Unigene Clusters for GJB1 Gene

Gap junction protein, beta 1, 32kDa:
Representative Sequences:

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for GJB1

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for GJB1 Gene

ExUns: 1a · 1b · 1c ^ 2 ^ 3 ^ 4 ^ 5a · 5b · 5c · 5d
SP1: -
SP2: - -
SP3: - - -
SP4: - -

Relevant External Links for GJB1 Gene

GeneLoc Exon Structure for
ECgene alternative splicing isoforms for

Expression for GJB1 Gene

mRNA expression in normal human tissues for GJB1 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for GJB1 Gene

This gene is overexpressed in Liver (x16.7), Brain - Spinal cord (cervical c-1) (x7.6), Pancreas (x5.8), and Brain - Substantia nigra (x4.5).

Protein differential expression in normal tissues from HIPED for GJB1 Gene

This gene is overexpressed in Liver (37.3), Spinal cord (15.5), and Urine (10.9).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, and MOPED for GJB1 Gene

SOURCE GeneReport for Unigene cluster for GJB1 Gene Hs.333303

genes like me logo Genes that share expression patterns with GJB1: view

Primer Products

In Situ Assay Products

No data available for mRNA Expression by UniProt/SwissProt and Protein tissue co-expression partners for GJB1 Gene

Orthologs for GJB1 Gene

This gene was present in the common ancestor of chordates.

Orthologs for GJB1 Gene

Organism Taxonomy Gene Similarity Type Details
(Bos Taurus)
Mammalia GJB1 35
  • 93.64 (n)
  • 98.23 (a)
GJB1 36
  • 98 (a)
(Canis familiaris)
Mammalia GJB1 35
  • 92.46 (n)
  • 98.59 (a)
GJB1 36
  • 99 (a)
(Mus musculus)
Mammalia Gjb1 35
  • 92.34 (n)
  • 98.59 (a)
Gjb1 16
Gjb1 36
  • 99 (a)
(Pan troglodytes)
Mammalia GJB1 35
  • 99.53 (n)
  • 100 (a)
GJB1 36
  • 100 (a)
(Rattus norvegicus)
Mammalia Gjb1 35
  • 92.82 (n)
  • 98.59 (a)
(Monodelphis domestica)
Mammalia GJB1 36
  • 93 (a)
(Ornithorhynchus anatinus)
Mammalia GJB1 36
  • 87 (a)
(Gallus gallus)
Aves GJB1 35
  • 79.21 (n)
  • 78.49 (a)
GJB1 36
  • 78 (a)
(Anolis carolinensis)
Reptilia GJB1 36
  • 77 (a)
tropical clawed frog
(Silurana tropicalis)
Amphibia gjb1 35
  • 71.1 (n)
  • 74.14 (a)
Str.6225 35
African clawed frog
(Xenopus laevis)
Amphibia gjb1-A-prov 35
(Danio rerio)
Actinopterygii cx27.5 35
cx31.7 35
  • 62.17 (n)
  • 65.69 (a)
cx27.5 36
  • 63 (a)
cx31.7 36
  • 66 (a)
Species with no ortholog for GJB1:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • fruit fly (Drosophila melanogaster)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for GJB1 Gene

Gene Tree for GJB1 (if available)
Gene Tree for GJB1 (if available)

Paralogs for GJB1 Gene

Paralogs for GJB1 Gene

(15) SIMAP similar genes for GJB1 Gene using alignment to 2 proteins:

genes like me logo Genes that share paralogs with GJB1: view

Variants for GJB1 Gene

Sequence variations from dbSNP and Humsavar for GJB1 Gene

SNP ID Clin Chr 0X pos Sequence Context AA Info Type MAF
rs14974 -- 71,224,913(-) AAACA(G/T)GGTAT utr-variant-3-prime
rs1042771 -- 71,224,589(+) TCCCA(C/T)CCCCG utr-variant-3-prime
rs2235132 -- 71,225,557(+) AGAGA(A/G)TGGCA downstream-variant-500B
rs2280960 -- 71,214,984(+) ACATG(A/G)GTGGG upstream-variant-2KB
rs2280961 -- 71,215,786(+) ACAGG(A/G)CCAAG intron-variant

Structural Variations from Database of Genomic Variants (DGV) for GJB1 Gene

Variant ID Type Subtype PubMed ID
esv1584074 OTHER Inversion 17803354
esv33082 CNV Loss 17666407
nsv508781 CNV Insertion 20534489

Variation tolerance for GJB1 Gene

Residual Variation Intolerance Score: 60.21% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 0.50; 10.86% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for GJB1 Gene

HapMap Linkage Disequilibrium report
Human Gene Mutation Database (HGMD)

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for GJB1 Gene

Disorders for GJB1 Gene

MalaCards: The human disease database

(32) MalaCards diseases for GJB1 Gene - From: OMIM, ClinVar, GeneTests, Orphanet, Swiss-Prot, DISEASES, NovoSeek, and GeneCards

Disorder Aliases PubMed IDs
charcot-marie-tooth disease
  • dejerine-sottas disease
charcot-marie-tooth neuropathy, x-linked dominant, 1
  • hereditary motor and sensory neuropathy, x-linked
x-linked charcot-marie-tooth disease type 1
  • charcot-marie-tooth neuropathy x type 1
charcot-marie-tooth neuropathy x
  • x-linked charcot-marie-tooth disease
charcot-marie-tooth neuropathy x type 1
  • cmtx1
- elite association
Search GJB1 in MalaCards View complete list of genes associated with diseases


  • Charcot-Marie-Tooth disease, X-linked dominant, 1 (CMTX1) [MIM:302800]: A form of Charcot-Marie-Tooth disease, a disorder of the peripheral nervous system, characterized by progressive weakness and atrophy, initially of the peroneal muscles and later of the distal muscles of the arms. Charcot-Marie-Tooth disease is classified in two main groups on the basis of electrophysiologic properties and histopathology: primary peripheral demyelinating neuropathies characterized by severely reduced motor nerve conduction velocities (NCVs) (less than 38m/s) and segmental demyelination and remyelination, and primary peripheral axonal neuropathies characterized by normal or mildly reduced NCVs and chronic axonal degeneration and regeneration on nerve biopsy. CMTX1 has both demyelinating and axonal features. Central nervous system involvement may occur. {ECO:0000269 PubMed:10071100, ECO:0000269 PubMed:10220155, ECO:0000269 PubMed:10234007, ECO:0000269 PubMed:10586284, ECO:0000269 PubMed:10732813, ECO:0000269 PubMed:10737979, ECO:0000269 PubMed:10873293, ECO:0000269 PubMed:10894999, ECO:0000269 PubMed:10923043, ECO:0000269 PubMed:10938190, ECO:0000269 PubMed:11030070, ECO:0000269 PubMed:11140841, ECO:0000269 PubMed:11180613, ECO:0000269 PubMed:11437164, ECO:0000269 PubMed:11438991, ECO:0000269 PubMed:11562788, ECO:0000269 PubMed:11571214, ECO:0000269 PubMed:11723288, ECO:0000269 PubMed:11835375, ECO:0000269 PubMed:12185164, ECO:0000269 PubMed:12207932, ECO:0000269 PubMed:12325071, ECO:0000269 PubMed:12402337, ECO:0000269 PubMed:12477701, ECO:0000269 PubMed:12497641, ECO:0000269 PubMed:12536289, ECO:0000269 PubMed:12707076, ECO:0000269 PubMed:14627639, ECO:0000269 PubMed:15241803, ECO:0000269 PubMed:15468313, ECO:0000269 PubMed:15852376, ECO:0000269 PubMed:7477983, ECO:0000269 PubMed:7833935, ECO:0000269 PubMed:8004109, ECO:0000269 PubMed:8162049, ECO:0000269 PubMed:8266101, ECO:0000269 PubMed:8628473, ECO:0000269 PubMed:8698335, ECO:0000269 PubMed:8733054, ECO:0000269 PubMed:8737658, ECO:0000269 PubMed:8807343, ECO:0000269 PubMed:8829637, ECO:0000269 PubMed:8889588, ECO:0000269 PubMed:8956046, ECO:0000269 PubMed:8990008, ECO:0000269 PubMed:9018031, ECO:0000269 PubMed:9099841, ECO:0000269 PubMed:9187667, ECO:0000269 PubMed:9272161, ECO:0000269 PubMed:9361298, ECO:0000269 PubMed:9452025, ECO:0000269 PubMed:9452099, ECO:0000269 PubMed:9469569, ECO:0000269 PubMed:9633821, ECO:0000269 PubMed:9818870, ECO:0000269 PubMed:9856562, ECO:0000269 Ref.12}. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • Dejerine-Sottas syndrome (DSS) [MIM:145900]: A severe degenerating neuropathy of the demyelinating Charcot-Marie-Tooth disease category, with onset by age 2 years. Characterized by motor and sensory neuropathy with very slow nerve conduction velocities, increased cerebrospinal fluid protein concentrations, hypertrophic nerve changes, delayed age of walking as well as areflexia. There are both autosomal dominant and autosomal recessive forms of Dejerine-Sottas syndrome. {ECO:0000269 PubMed:15947997}. Note=The gene represented in this entry may act as a disease modifier.

Relevant External Links for GJB1

Genetic Association Database (GAD)
Human Genome Epidemiology (HuGE) Navigator
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
genes like me logo Genes that share disorders with GJB1: view

No data available for Genatlas for GJB1 Gene

Publications for GJB1 Gene

  1. Gradual loss of functional gap junction within progression of colorectal cancer -- a shift from membranous CX32 and CX43 expression to cytoplasmic pattern during colorectal carcinogenesis. (PMID: 20133984) Kanczuga-Koda L. … Sulkowska M. (In Vivo 2010) 23 67
  2. Rett syndrome microglia damage dendrites and synapses by the elevated release of glutamate. (PMID: 20392956) Maezawa I. … Jin L.W. (J. Neurosci. 2010) 23 67
  3. -459C>T point mutation in 5' non-coding region of human GJB1 gene is linked to X-linked Charcot-Marie-Tooth neuropathy. (PMID: 19335535) Li M. … Ho S.L. (J. Peripher. Nerv. Syst. 2009) 23 67
  4. Expressions of connexin 32 and 26 and their correlation to prognosis of non-small cell lung cancer. (PMID: 19550132) Zhang W. … He X.X. (Ai Zheng 2009) 23 67
  5. Identification and in silico analysis of 14 novel GJB1, MPZ and PMP22 gene mutations. (PMID: 19259128) Miltenberger-Miltenyi G. … Janecke A.R. (Eur. J. Hum. Genet. 2009) 23 67

Products for GJB1 Gene

Sources for GJB1 Gene

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