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Aliases for GJB1 Gene

Aliases for GJB1 Gene

  • Gap Junction Protein Beta 1 2 3 5
  • 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) is a Protein Coding gene. Diseases associated with GJB1 include Charcot-Marie-Tooth Neuropathy, X-Linked Dominant, 1 and Charcot-Marie-Tooth Disease. Among its related pathways are Myometrial Relaxation and Contraction Pathways and Oligomerization of connexins into connexons. GO annotations related to this gene include protein homodimerization activity. An important paralog of this gene is GJC2.

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

Enhancers for GJB1 Gene
GeneHancer Identifier Score Enhancer Sources TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Other Gene Targets for Enhancer

Enhancers around GJB1 on UCSC Golden Path with GeneCards custom track

Promoters for GJB1 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around GJB1 on UCSC Golden Path with GeneCards custom track

Genomic Location for GJB1 Gene

Chromosome:
X
Start:
71,215,194 bp from pter
End:
71,225,516 bp from pter
Size:
10,323 bases
Orientation:
Plus strand

Genomic View for GJB1 Gene

Genes around GJB1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
GJB1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
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:
    P08034-CXB1_HUMAN
    Recommended name:
    Gap junction beta-1 protein
    Protein Accession:
    P08034
    Secondary Accessions:
    • B2R8R2
    • D3DVV2
    • Q5U0S4

    Protein attributes for GJB1 Gene

    Size:
    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

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

P08034

UniProtKB/Swiss-Prot:

CXB1_HUMAN :
  • Belongs to the connexin family. Beta-type (group I) subfamily.
Family:
  • 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.
genes like me logo Genes that share phenotypes with GJB1: view

Human Phenotype Ontology for GJB1 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for GJB1 Gene

MGI Knock Outs for GJB1:

Animal Model Products

miRNA for GJB1 Gene

miRTarBase miRNAs that target GJB1

No data available for Enzyme Numbers (IUBMB) , Gene Ontology (GO) - Molecular Function , 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

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

Gene Ontology (GO) - Cellular Components for GJB1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005783 endoplasmic reticulum IEA --
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

Gene Ontology (GO) - Biological Process for GJB1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006810 transport TAS 2875078
GO:0007267 cell-cell signaling TAS 8266101
GO:0007399 nervous system development TAS 8266101
GO:0015868 purine ribonucleotide transport IEA --
GO:0055085 transmembrane 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: DGIdb, IUPHAR, Tocris, and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Carbenoxolone Experimental Pharma Inhibitor 0
Flufenamic acid Experimental Pharma Channel blocker Activates TRPC6; NSAID 0
Ca<sup>2+</sup> Pharma Activator 0
octanol Pharma Inhibitor 0
10Panx Pharma Panx-1 mimetic inhibitor, Panx-1 mimetic inhibitory peptide; blocks pannexin-1 gap junctions 0

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

Name Synonyms Role CAS Number PubChem IDs PubMed IDs

(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
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:

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
GJB1
ECgene alternative splicing isoforms for
GJB1

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

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
cow
(Bos Taurus)
Mammalia GJB1 35
  • 93.64 (n)
  • 98.23 (a)
GJB1 36
  • 98 (a)
OneToOne
dog
(Canis familiaris)
Mammalia GJB1 35
  • 92.46 (n)
  • 98.59 (a)
GJB1 36
  • 99 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Gjb1 35
  • 92.34 (n)
  • 98.59 (a)
Gjb1 16
Gjb1 36
  • 99 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia GJB1 35
  • 99.53 (n)
  • 100 (a)
GJB1 36
  • 100 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Gjb1 35
  • 92.82 (n)
  • 98.59 (a)
oppossum
(Monodelphis domestica)
Mammalia GJB1 36
  • 93 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia GJB1 36
  • 87 (a)
OneToOne
chicken
(Gallus gallus)
Aves GJB1 35
  • 79.21 (n)
  • 78.49 (a)
GJB1 36
  • 78 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia GJB1 36
  • 77 (a)
OneToOne
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
zebrafish
(Danio rerio)
Actinopterygii cx27.5 35
cx31.7 35
  • 62.17 (n)
  • 65.69 (a)
cx27.5 36
  • 63 (a)
OneToMany
cx31.7 36
  • 66 (a)
OneToMany
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

ENSEMBL:
Gene Tree for GJB1 (if available)
TreeFam:
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
VAR_002006 Charcot-Marie-Tooth disease, X-linked dominant, 1 (CMTX1)
VAR_002007 Charcot-Marie-Tooth disease, X-linked dominant, 1 (CMTX1)
VAR_002008 Charcot-Marie-Tooth disease, X-linked dominant, 1 (CMTX1)
VAR_002009 Charcot-Marie-Tooth disease, X-linked dominant, 1 (CMTX1)
VAR_002010 Charcot-Marie-Tooth disease, X-linked dominant, 1 (CMTX1)

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: 60.2% 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

Human Gene Mutation Database (HGMD)
GJB1

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

Disorders for GJB1 Gene

MalaCards: The human disease database

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

Disorder Aliases PubMed IDs
charcot-marie-tooth neuropathy, x-linked dominant, 1
  • cmtx1
charcot-marie-tooth disease
  • dejerine-sottas disease
charcot-marie-tooth neuropathy
  • charcot-marie-tooth disease
x-linked progressive cerebellar ataxia
x-linked charcot-marie-tooth disease type 1
  • charcot-marie-tooth neuropathy x type 1
- elite association - COSMIC cancer census association via MalaCards
Search GJB1 in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

CXB1_HUMAN
  • 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)
GJB1
Human Genome Epidemiology (HuGE) Navigator
GJB1
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
GJB1
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 48 67
  2. 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) 3 23
  3. 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) 3 23
  4. Connexin32 is expressed in vascular endothelial cells and participates in gap-junction intercellular communication. (PMID: 19265674) Okamoto T. … Suzuki K. (Biochem. Biophys. Res. Commun. 2009) 3 23
  5. -459C&amp;gt;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) 3 23

Products for GJB1 Gene

Sources for GJB1 Gene

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