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Aliases for GJB1 Gene

Aliases for GJB1 Gene

  • Gap Junction Protein, Beta 1, 32kDa 2 3
  • CX32 3 4 6
  • GAP Junction 28 KDa Liver Protein 3 4
  • Connexin 32 2 3
  • Connexin-32 3 4
  • CMTX1 3 6
  • 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
  • Gap Junction Beta-1 Protein 3
  • X-Linked 2
  • 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 neuropathy, x-linked dominant, 1 and charcot-marie-tooth neuropathy x type 1. Among its related pathways are Neural Crest Differentiation and Clathrin derived vesicle budding. GO annotations related to this gene include protein homodimerization activity and gap junction channel 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 (also known as gap junctions) are specalized cell-cell contacts between almost all eukaryotic cells that provide direct intracellular communication. Generally, gap channels allow the passive diffusion of molecules up to 1 kDa which includes nutrients, small metabolites (e.g. glucose), ions (K+, Ca2+) and second messengers (IP3, cAMP and cGMP). Gap channels allow electrical and biochemical coupling between cells and in excitable tissues, such as neurons and the heart, enables the generation of synchronized and rapid responses. Structurally, gap channels are composed of two hemichannels called 'connexons', which themselves are formed from six connexin molecules. Homo- and heteromeric combinations are seen, which exhibit distinct permeability, selectivity and functional properties. Pannexins are related to connexins and can also form gap junctions. However, their expression is limited to the brain. Furthermore, in nonchordate animals a family of proteins called innexins form these channels. Gap channels are regulated through post-translational modifications of the C'-terminal cytoplasmic tail and phosphorylation modulates assembly and their physiological properties. They are continuously synthesized and degraded, allowing tissues to rapidly adapt to changing environmental conditions. Connexins play a key role in many physiological processes including cardiac and smooth muscle contraction, regulation of neuronal excitability, epithelial electrolyte transport and keratinocyte differentiation. Mutations in connexin genes are associated with human diseases including sensorineural deafness, a variety of skin disorders, peripheral neuropathy and cardiovascular disease.

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

ENSEMBL proteins:
Reactome Protein details:
REFSEQ proteins:

Antibody Products

No data available for DME Specific Peptides for GJB1 Gene

Domains 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: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 Targeting 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
golgi apparatus 2
cytosol 1
extracellular 1
nucleus 1

Gene Ontology (GO) - Cellular Components for GJB1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005737 cytoplasm --
GO:0005789 endoplasmic reticulum membrane TAS --
GO:0005886 plasma membrane --
GO:0005921 gap junction --
GO:0005922 connexon complex IEA --
genes like me logo Genes that share ontologies with GJB1: view

Pathways 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:0008219 cell death --
genes like me logo Genes that share ontologies with GJB1: view

Compounds for GJB1 Gene

(5) Tocris Compounds for GJB1 Gene

Compound Action Cas Number
10Panx Panx-1 mimetic inhibitory peptide; blocks pannexin-1 gap junctions [955091-53-9]
Carbenoxolone disodium Gap junction blocker. Also inhibitor of 11 beta-hydroxysteroid dehydrogenase [7421-40-1]
Gap 26 Gap junction blocker; inhibits smooth muscle contraction and IP3-mediated ATP release [197250-15-0]
Gap 27 Selective gap junction blocker [198284-64-9]
Scrambled 10Panx Scrambled version of 10Panx (Cat. No. 3348), Panx-1 mimetic inhibitory peptide [1315378-72-3]

(4) IUPHAR Ligand for GJB1 Gene

Ligand Type Action Affinity Pubmed IDs
flufenamic acid Channel blocker None
octanol Inhibitor None
Ca2+ Antagonist Antagonist
carbenoxolone Inhibitor None

(15) Novoseek inferred chemical compound relationships for GJB1 Gene

Compound -log(P) Hits PubMed IDs
cx38 78 11
forskolin 2.56 2
atp 0 2
asparagine 0 2
calcium 0 5
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 (16.7), Brain - Spinal cord (cervical c-1) (7.6), Pancreas (5.8), and Brain - Substantia nigra (4.5).

Protein differential expression in normal tissues for GJB1 Gene

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

Integrated Proteomics: protein expression 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 expressions with GJB1: view

Primer Products

In Situ Assay Products

No data available for mRNA Expression by UniProt/SwissProt and 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

Relevant External Links for GJB1 Gene

HapMap Linkage Disequilibrium report
Human Gene Mutation Database (HGMD)
Locus Specific Mutation Databases (LSDB)

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

Disorders for GJB1 Gene

(1) OMIM Diseases for GJB1 Gene (304040)


  • 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: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: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 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.

(3) University of Copenhagen DISEASES for GJB1 Gene

(34) Novoseek inferred disease relationships for GJB1 Gene

Disease -log(P) Hits PubMed IDs
charcot-marie-tooth disease 96.5 112
hereditary neuropathy 87.7 11
dejerine-sottas disease 84.1 4
sensory neuropathy 76.1 8
hereditary peripheral neuropathy 73.7 1

Relevant External Links for GJB1

Genetic Association Database (GAD)
Human Genome Epidemiology (HuGE) Navigator
genes like me logo Genes that share disorders with GJB1: view

No data available for Genatlas for GJB1 Gene

Publications for GJB1 Gene

  1. Charcot-Marie-Tooth disease and related neuropathies: mutation distribution and genotype-phenotype correlation. (PMID: 11835375) Boerkoel C.F. … Lupski J.R. (Ann. Neurol. 2002) 3 4 23 48
  2. Voltage opens unopposed gap junction hemichannels formed by a connexin 32 mutant associated with X-linked Charcot-Marie-Tooth disease. (PMID: 11891346) Abrams C.K. … Bargiello T.A. (Proc. Natl. Acad. Sci. U.S.A. 2002) 3 4 23
  3. Mutation analysis in Chariot-Marie Tooth disease type 1: point mutations in the MPZ gene and the GJB1 gene cause comparable phenotypic heterogeneity. (PMID: 11437164) Young P. … Stoegbauer F. (J. Neurol. 2001) 3 4 23
  4. Charcot-Marie-Tooth neuropathy: clinical phenotypes of four novel mutations in the MPZ and Cx 32 genes. (PMID: 12207932) Street V.A. … Bird T.D. (Neuromuscul. Disord. 2002) 3 4 23
  5. Transient central nervous system white matter abnormality in X-linked Charcot-Marie-Tooth disease. (PMID: 12325071) Paulson H.L. … Shy M.E. (Ann. Neurol. 2002) 3 4 23

Products for GJB1 Gene

Sources for GJB1 Gene

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