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Aliases for GJB5 Gene

Aliases for GJB5 Gene

  • Gap Junction Protein Beta 5 2 3 5
  • Gap Junction Protein, Beta 5 (Connexin 31.1) 2 3
  • Gap Junction Protein, Beta 5, 31.1kDa 2 3
  • Gap Junctional Protein Cx31.1 3
  • Gap Junction Protein, Beta 5 2
  • Gap Junction Beta-5 Protein 3
  • Connexin-31.1 4
  • Connexin 31.1 2
  • CX31.1 3
  • Cx31.1 4

External Ids for GJB5 Gene

Previous GeneCards Identifiers for GJB5 Gene

  • GC01P035042
  • GC01P034276
  • GC01P034647
  • GC06M087990
  • GC00M9U0074
  • GC01P034889
  • GC01P034993
  • GC01P035220
  • GC01P033338

Summaries for GJB5 Gene

Entrez Gene Summary for GJB5 Gene

  • This gene encodes a member of the beta-type (group I) connexin family. The encoded protein is a gap junction protein involved in intercellular communication related to epidermal differentiation and environmental sensing. This gene has been linked to non-small cell lung cancer. [provided by RefSeq, Nov 2012]

GeneCards Summary for GJB5 Gene

GJB5 (Gap Junction Protein Beta 5) is a Protein Coding gene. Among its related pathways are Vesicle-mediated transport and Gap junction trafficking. An important paralog of this gene is GJB4.

UniProtKB/Swiss-Prot for GJB5 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 GJB5 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 GJB5 Gene

Additional gene information for GJB5 Gene

No data available for CIViC summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for GJB5 Gene

Genomics for GJB5 Gene

GeneHancer (GH) Regulatory Elements for GJB5 Gene

Promoters and enhancers for GJB5 Gene
GeneHancer (GH) Identifier GH Type GH
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH01J034754 Promoter/Enhancer 1.3 EPDnew ENCODE dbSUPER 665.7 +0.0 8 2.8 STAT1 KLF1 MAZ ZNF316 ZFP3 FOS ZFX SETDB1 GJB5 GJB4 SMIM12
GH01J034753 Enhancer 0.5 ENCODE 650.7 -1.7 -1731 0.2 CTCF ZNF316 FOS SETDB1 GJB5 LOC105378642 SMIM12
GH01J034778 Promoter/Enhancer 1.6 EPDnew Ensembl ENCODE dbSUPER 13 +26.7 26702 5.9 KLF1 SUZ12 MAX KLF17 CEBPG ZBTB40 RFX5 ZKSCAN1 E2F1 ZNF335 GJB3 GJB5 CLSPN ENSG00000255811 SMIM12
GH01J034798 Enhancer 0.5 ENCODE 15.4 +43.8 43811 1 SP1 RXRA REST NR2F2 GJB5 GJB4 GJB3 GJA4 GC01P034835 SMIM12
GH01J034742 Enhancer 0.7 ENCODE 0.4 -12.2 -12221 1.2 CTCF ZNF654 RB1 TRIM22 REST RAD21 ZKSCAN1 OSR2 XRCC5 CTBP1 GJB5 LOC105378642 SMIM12
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around GJB5 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the GJB5 gene promoter:
  • RFX1
  • Sox5
  • NF-1
  • NF-1/L
  • C/EBPalpha
  • c-Myc
  • Max1
  • S8

Genomic Locations for GJB5 Gene

Genomic Locations for GJB5 Gene
3,467 bases
Plus strand
3,466 bases
Plus strand

Genomic View for GJB5 Gene

Genes around GJB5 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
GJB5 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for GJB5 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for GJB5 Gene

Proteins for GJB5 Gene

  • Protein details for GJB5 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Recommended name:
    Gap junction beta-5 protein
    Protein Accession:
    Secondary Accessions:
    • Q9UPA3

    Protein attributes for GJB5 Gene

    273 amino acids
    Molecular mass:
    31088 Da
    Quaternary structure:
    • A connexon is composed of a hexamer of connexins.

neXtProt entry for GJB5 Gene

Post-translational modifications for GJB5 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for GJB5 Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for GJB5 Gene

Domains & Families for GJB5 Gene

Gene Families for GJB5 Gene

Human Protein Atlas (HPA):
  • Cancer-related genes
  • Predicted membrane proteins

Protein Domains for GJB5 Gene

Suggested Antigen Peptide Sequences for GJB5 Gene

GenScript: Design optimal peptide antigens:

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 GJB5: view

Function for GJB5 Gene

Molecular function for GJB5 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.
GENATLAS Biochemistry:
gap junction protein beta 5,connexin 31.1,monomer of the connexon (six subunits), expressed in epidermis

Phenotypes From GWAS Catalog for GJB5 Gene

genes like me logo Genes that share phenotypes with GJB5: view

Animal Models for GJB5 Gene

MGI Knock Outs for GJB5:

Animal Model Products

miRNA for GJB5 Gene

miRTarBase miRNAs that target GJB5

Clone Products

  • R&D Systems cDNA Clones for GJB5 (Connexin 30.1/GJB5)

No data available for Enzyme Numbers (IUBMB) , Gene Ontology (GO) - Molecular Function , Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for GJB5 Gene

Localization for GJB5 Gene

Subcellular locations from UniProtKB/Swiss-Prot for GJB5 Gene

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

Subcellular locations from

Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for GJB5 gene
Compartment Confidence
plasma membrane 5

Gene Ontology (GO) - Cellular Components for GJB5 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005921 gap junction IEA --
GO:0005922 connexin complex IEA --
GO:0016020 membrane IEA --
GO:0016021 integral component of membrane IEA --
GO:0030054 cell junction IEA --
genes like me logo Genes that share ontologies with GJB5: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for GJB5 Gene

Pathways & Interactions for GJB5 Gene

genes like me logo Genes that share pathways with GJB5: view

Pathways by source for GJB5 Gene

Gene Ontology (GO) - Biological Process for GJB5 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0007154 cell communication IEA --
GO:0008544 epidermis development TAS 9843209
GO:0060707 trophoblast giant cell differentiation IEA --
GO:0060708 spongiotrophoblast differentiation IEA --
GO:0060713 labyrinthine layer morphogenesis IEA --
genes like me logo Genes that share ontologies with GJB5: view

No data available for SIGNOR curated interactions for GJB5 Gene

Drugs & Compounds for GJB5 Gene

(9) Drugs for GJB5 Gene - From: DGIdb, IUPHAR, and Tocris

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Carbenoxolone Experimental Pharma Inhibitor 0
Flufenamic Acid Experimental Pharma Channel blocker, Inhibitor, Pore Blocker, Antagonist Calcium-activated chloride channel blocker; NSAID. Also activates TRPC6 1
octanol Investigational Pharma Inhibitor 0
Ca<sup>2+</sup> Pharma Activator, Full agonist, Agonist, Inhibitor, Antagonist, Channel blocker 0
10Panx Pharma Panx-1 mimetic inhibitor, Panx-1 mimetic inhibitory peptide; blocks pannexin-1 gap junctions 0

(5) Tocris Compounds for GJB5 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 GJB5: view

Transcripts for GJB5 Gene

mRNA/cDNA for GJB5 Gene

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

Unigene Clusters for GJB5 Gene

Gap junction protein, beta 5, 31.1kDa:
Representative Sequences:

Clone Products

  • R&D Systems cDNA Clones for GJB5 (Connexin 30.1/GJB5)

Alternative Splicing Database (ASD) splice patterns (SP) for GJB5 Gene

ExUns: 1a · 1b ^ 2a · 2b

Relevant External Links for GJB5 Gene

GeneLoc Exon Structure for
ECgene alternative splicing isoforms for

Expression for GJB5 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for GJB5 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for GJB5 Gene

This gene is overexpressed in Esophagus - Mucosa (x14.5), Skin - Sun Exposed (Lower leg) (x12.5), Skin - Not Sun Exposed (Suprapubic) (x12.3), and Vagina (x4.2).

Protein differential expression in normal tissues from HIPED for GJB5 Gene

This gene is overexpressed in Nasal epithelium (67.2).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for GJB5 Gene

Protein tissue co-expression partners for GJB5 Gene

NURSA nuclear receptor signaling pathways regulating expression of GJB5 Gene:


SOURCE GeneReport for Unigene cluster for GJB5 Gene:


Evidence on tissue expression from TISSUES for GJB5 Gene

  • Pancreas(4.2)
  • Skin(2.6)
genes like me logo Genes that share expression patterns with GJB5: view

No data available for mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for GJB5 Gene

Orthologs for GJB5 Gene

This gene was present in the common ancestor of chordates.

Orthologs for GJB5 Gene

Organism Taxonomy Gene Similarity Type Details
(Pan troglodytes)
Mammalia GJB5 34 33
  • 98.78 (n)
(Bos Taurus)
Mammalia GJB5 34 33
  • 83.15 (n)
(Canis familiaris)
Mammalia GJB5 34 33
  • 82.05 (n)
(Rattus norvegicus)
Mammalia Gjb5 33
  • 80.07 (n)
(Mus musculus)
Mammalia Gjb5 16 34 33
  • 78.97 (n)
(Monodelphis domestica)
Mammalia GJB5 34
  • 76 (a)
(Ornithorhynchus anatinus)
Mammalia GJB5 34
  • 71 (a)
(Gallus gallus)
Aves GJB5 33
  • 71.11 (n)
(Anolis carolinensis)
Reptilia GJB5 34
  • 63 (a)
tropical clawed frog
(Silurana tropicalis)
Amphibia LOC101734565 33
  • 65.52 (n)
(Danio rerio)
Actinopterygii cx28.6 34
  • 51 (a)
cx34.4 34
  • 49 (a)
cx30.9 34
  • 46 (a)
Species where no ortholog for GJB5 was found in the sources mined by GeneCards:
  • 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)
  • 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 GJB5 Gene

Gene Tree for GJB5 (if available)
Gene Tree for GJB5 (if available)
Evolutionary constrained regions (ECRs) for GJB5: view image

Paralogs for GJB5 Gene

Paralogs for GJB5 Gene

(17) SIMAP similar genes for GJB5 Gene using alignment to 1 proteins:

genes like me logo Genes that share paralogs with GJB5: view

Variants for GJB5 Gene

Sequence variations from dbSNP and Humsavar for GJB5 Gene

SNP ID Clin Chr 01 pos Variation AA Info Type
rs1000133756 -- 34,753,553(+) C/G upstream_transcript_variant
rs1000591147 -- 34,756,359(+) G/C intron_variant
rs1000799738 -- 34,756,634(+) G/A intron_variant
rs1001321641 -- 34,753,521(+) A/G upstream_transcript_variant
rs1001461932 -- 34,758,874(+) G/A downstream_transcript_variant

Variation tolerance for GJB5 Gene

Residual Variation Intolerance Score: 79.5% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 2.23; 40.20% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for GJB5 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot and Structural Variations from Database of Genomic Variants (DGV) for GJB5 Gene

Disorders for GJB5 Gene

Additional Disease Information for GJB5

Genetic Association Database
Human Genome Epidemiology Navigator
ATLAS of Genetics and Cytogenetics in Oncology and Haematology

No disorders were found for GJB5 Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for GJB5 Gene

Publications for GJB5 Gene

  1. Mutations in the human connexin gene GJB3 cause erythrokeratodermia variabilis. (PMID: 9843209) Richard G … Bale SJ (Nature genetics 1998) 2 3 4 22 58
  2. Connexin mutations in Brazilian patients with skin disorders with or without hearing loss. (PMID: 19283857) Alexandrino F … Sartorato EL (American journal of medical genetics. Part A 2009) 3 22 58
  3. Genetic associations of 115 polymorphisms with cancers of the upper aerodigestive tract across 10 European countries: the ARCAGE project. (PMID: 19339270) Canova C … Brennan P (Cancer research 2009) 3 44 58
  4. The DNA sequence and biological annotation of human chromosome 1. (PMID: 16710414) Gregory SG … Prigmore E (Nature 2006) 3 4 58
  5. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard DS … MGC Project Team (Genome research 2004) 3 4 58

Products for GJB5 Gene

Sources for GJB5 Gene

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