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Aliases for GJB4 Gene

Aliases for GJB4 Gene

  • Gap Junction Protein, Beta 4, 30.3kDa 2 3
  • CX30.3 3 4 6
  • Connexin 30.3 2 3
  • Connexin-30.3 3 4
  • Gap Junction Protein, Beta 4 (Connexin 30.3) 2
  • Gap Junction Protein, Beta 4 2
  • Gap Junction Beta-4 Protein 3
  • EKV 3

External Ids for GJB4 Gene

Previous GeneCards Identifiers for GJB4 Gene

  • GC01U990071
  • GC01P034281
  • GC01P034651
  • GC00M9U0070
  • GC01P034894
  • GC01P034997
  • GC01P034999
  • GC01P035225
  • GC01P033342

Summaries for GJB4 Gene

Entrez Gene Summary for GJB4 Gene

  • This gene encodes a transmembrane connexin protein that is a component of gap junctions. Mutations in this gene have been associated with erythrokeratodermia variabilis, progressive symmetric erythrokeratoderma and hearing impairment. [provided by RefSeq, Dec 2009]

GeneCards Summary for GJB4 Gene

GJB4 (Gap Junction Protein, Beta 4, 30.3kDa) is a Protein Coding gene. Diseases associated with GJB4 include gjb4-related erythrokeratodermia variabilis and erythrokeratodermia variabilis et progressiva. Among its related pathways are Clathrin derived vesicle budding and Myometrial Relaxation and Contraction Pathways. GO annotations related to this gene include gap junction channel activity. An important paralog of this gene is GJB3.

UniProtKB/Swiss-Prot for GJB4 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 GJB4 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 GJB4 Gene

No data available for PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for GJB4 Gene

Genomics for GJB4 Gene

Regulatory Elements for GJB4 Gene

Genomic Location for GJB4 Gene

34,759,741 bp from pter
34,763,724 bp from pter
3,984 bases
Plus strand

Genomic View for GJB4 Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for GJB4 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for GJB4 Gene

Proteins for GJB4 Gene

  • Protein details for GJB4 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Recommended name:
    Gap junction beta-4 protein
    Protein Accession:
    Secondary Accessions:
    • B3KQ82

    Protein attributes for GJB4 Gene

    266 amino acids
    Molecular mass:
    30419 Da
    Quaternary structure:
    • A connexon is composed of a hexamer of connexins

neXtProt entry for GJB4 Gene

Proteomics data for GJB4 Gene at MOPED

Post-translational modifications for GJB4 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for GJB4 Gene

ENSEMBL proteins:
Reactome Protein details:
REFSEQ proteins:

Antibody Products

No data available for DME Specific Peptides for GJB4 Gene

Domains for GJB4 Gene

Gene Families for GJB4 Gene

  • GJ :Ion channels / Gap junction proteins (connexins)

Suggested Antigen Peptide Sequences for GJB4 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry



  • Q9NTQ9
  • Belongs to the connexin family. Beta-type (group I) subfamily.
genes like me logo Genes that share domains with GJB4: view

Function for GJB4 Gene

Molecular function for GJB4 Gene

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

Phenotypes for GJB4 Gene

MGI mutant phenotypes for GJB4:
inferred from 1 alleles
genes like me logo Genes that share phenotypes with GJB4: view

miRNA for GJB4 Gene

miRTarBase miRNAs that target GJB4

miRNA Products

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for GJB4

In Situ Assay Products

Flow Cytometry Products

No data available for Enzyme Numbers (IUBMB) , Gene Ontology (GO) - Molecular Function , Animal Models , Transcription Factor Targeting and HOMER Transcription for GJB4 Gene

Localization for GJB4 Gene

Subcellular locations from UniProtKB/Swiss-Prot for GJB4 Gene

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

Subcellular locations from

Jensen Localization Image for GJB4 Gene COMPARTMENTS Subcellular localization image for GJB4 gene
Compartment Confidence
plasma membrane 5
extracellular 1
lysosome 1

Gene Ontology (GO) - Cellular Components for GJB4 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005922 connexon complex IEA --
GO:0016021 integral component of membrane IEA --
genes like me logo Genes that share ontologies with GJB4: view

Pathways for GJB4 Gene

genes like me logo Genes that share pathways with GJB4: view

Pathways by source for GJB4 Gene

PCR Array Products

  • Pathway & Disease-focused RT² Profiler PCR Arrays

Interacting Proteins for GJB4 Gene

Gene Ontology (GO) - Biological Process for GJB4 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0007154 cell communication IEA --
GO:0007608 sensory perception of smell IEA --
GO:0042048 olfactory behavior IEA --
genes like me logo Genes that share ontologies with GJB4: view

Compounds for GJB4 Gene

(5) Tocris Compounds for GJB4 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 GJB4 Gene

Ligand Type Action Affinity Pubmed IDs
flufenamic acid Channel blocker None
octanol Inhibitor None
Ca2+ Antagonist Antagonist
carbenoxolone Inhibitor None
genes like me logo Genes that share compounds with GJB4: view

Transcripts for GJB4 Gene

mRNA/cDNA for GJB4 Gene

(2) REFSEQ mRNAs :
(6) Selected AceView cDNA sequences:
(2) Additional mRNA sequences :
(1) Ensembl transcripts including schematic representations, and UCSC links where relevant :

Unigene Clusters for GJB4 Gene

Gap junction protein, beta 4, 30.3kDa:
Representative Sequences:

miRNA Products

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for GJB4

Primer Products

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for GJB4 Gene

No ASD Table

Relevant External Links for GJB4 Gene

GeneLoc Exon Structure for
ECgene alternative splicing isoforms for

Expression for GJB4 Gene

mRNA expression in normal human tissues for GJB4 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for GJB4 Gene

This gene is overexpressed in Skin - Sun Exposed (Lower leg) (23.1) and Skin - Not Sun Exposed (Suprapubic) (21.8).

SOURCE GeneReport for Unigene cluster for GJB4 Gene Hs.351203

genes like me logo Genes that share expressions with GJB4: view

In Situ Assay Products

No data available for Protein differential expression in normal tissues , Protein expression , mRNA Expression by UniProt/SwissProt and Expression partners for GJB4 Gene

Orthologs for GJB4 Gene

This gene was present in the common ancestor of chordates.

Orthologs for GJB4 Gene

Organism Taxonomy Gene Similarity Type Details
(Bos Taurus)
Mammalia GJB4 35
  • 85.84 (n)
  • 82.71 (a)
GJB4 36
  • 83 (a)
(Canis familiaris)
Mammalia GJB4 35
  • 86.72 (n)
  • 88.35 (a)
GJB4 36
  • 88 (a)
(Mus musculus)
Mammalia Gjb4 35
  • 83.21 (n)
  • 86.47 (a)
Gjb4 16
Gjb4 36
  • 86 (a)
(Pan troglodytes)
Mammalia GJB4 35
  • 98.5 (n)
  • 97.74 (a)
GJB4 36
  • 98 (a)
(Rattus norvegicus)
Mammalia Gjb4 35
  • 84.65 (n)
  • 86.79 (a)
(Monodelphis domestica)
Mammalia GJB4 36
  • 72 (a)
(Ornithorhynchus anatinus)
Mammalia GJB4 36
  • 68 (a)
tropical clawed frog
(Silurana tropicalis)
Amphibia LOC100486331 35
  • 64.19 (n)
  • 64.19 (a)
(Danio rerio)
Actinopterygii cx34.4 35
  • 63.72 (n)
  • 63.05 (a)
cx28.6 36
  • 55 (a)
cx30.9 36
  • 50 (a)
cx34.4 36
  • 53 (a)
Species with no ortholog for GJB4:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • 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)
  • chicken (Gallus gallus)
  • 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)
  • lizard (Anolis carolinensis)
  • 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 GJB4 Gene

Gene Tree for GJB4 (if available)
Gene Tree for GJB4 (if available)

Paralogs for GJB4 Gene

Paralogs for GJB4 Gene

Selected SIMAP similar genes for GJB4 Gene using alignment to 1 proteins:

genes like me logo Genes that share paralogs with GJB4: view

Variants for GJB4 Gene

Sequence variations from dbSNP and Humsavar for GJB4 Gene

SNP ID Clin Chr 01 pos Sequence Context AA Info Type MAF
rs755931 -- 34,762,072(+) AGCAG(A/G)TAAGA utr-variant-3-prime
rs1123974 -- 34,763,092(+) ATTCA(A/C)CCAGC utr-variant-3-prime
rs1570097 -- 34,763,570(-) ACTTA(A/G)AGAGA utr-variant-3-prime
rs1985283 -- 34,763,003(+) CATAC(C/T)CGCCA utr-variant-3-prime
rs1998177 -- 34,760,655(-) CCAGA(A/G)CAATC intron-variant

Structural Variations from Database of Genomic Variants (DGV) for GJB4 Gene

Variant ID Type Subtype PubMed ID
nsv870700 CNV Loss 21882294

Relevant External Links for GJB4 Gene

HapMap Linkage Disequilibrium report
Human Gene Mutation Database (HGMD)

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for GJB4 Gene

Disorders for GJB4 Gene

(1) OMIM Diseases for GJB4 Gene (605425)


  • Erythrokeratodermia variabilis (EKV) [MIM:133200]: A genodermatosis characterized by the appearance of two independent skin lesions: transient figurate erythematous patches and hyperkeratosis that is usually localized but occasionally occurs in its generalized form. Clinical presentation varies significantly within a family and from one family to another. Palmoplantar keratoderma is present in around 50% of cases. {ECO:0000269 PubMed:11017804}. Note=The disease is caused by mutations affecting the gene represented in this entry.

(3) University of Copenhagen DISEASES for GJB4 Gene

(2) Novoseek inferred disease relationships for GJB4 Gene

Disease -log(P) Hits PubMed IDs
erythrokeratodermia variabilis 98 6
skin diseases 59 3

Relevant External Links for GJB4

Genetic Association Database (GAD)
Human Genome Epidemiology (HuGE) Navigator
genes like me logo Genes that share disorders with GJB4: view

No data available for Genatlas for GJB4 Gene

Publications for GJB4 Gene

  1. A common frameshift mutation and other variants in GJB4 (connexin 30.3): analysis of hearing impairment families. (PMID: 11933201) Lopez-Bigas N. … Estivill X. (Hum. Mutat. 2002) 3 4 23
  2. Genetic heterogeneity in erythrokeratodermia variabilis: novel mutations in the connexin gene GJB4 (Cx30.3) and genotype-phenotype correlations. (PMID: 12648223) Richard G. … Uitto J. (J. Invest. Dermatol. 2003) 3 23
  3. Mutation in the gene for connexin 30.3 in a family with erythrokeratodermia variabilis. (PMID: 11017804) Macari F. … Huber M. (Am. J. Hum. Genet. 2000) 3 4
  4. The missense mutation G12D in connexin30.3 can cause both erythrokeratodermia variabilis of Mendes da Costa and progressive symmetric erythrokeratodermia of Gottron. (PMID: 19291775) van Steensel M.A. … van Geel M. (Am. J. Med. Genet. A 2009) 3 23
  5. Molecular interaction of connexin 30.3 and connexin 31 suggests a dominant-negative mechanism associated with erythrokeratodermia variabilis. (PMID: 14583444) Plantard L. … Hohl D. (Hum. Mol. Genet. 2003) 3 23

Products for GJB4 Gene

Sources for GJB4 Gene

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