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Aliases for GJB5 Gene

Aliases for GJB5 Gene

  • Gap Junction Protein, Beta 5, 31.1kDa 2 3
  • CX31.1 3 4 6
  • Gap Junction Protein, Beta 5 (Connexin 31.1) 2 3
  • Gap Junctional Protein Cx31.1 3
  • Gap Junction Protein, Beta 5 2
  • Gap Junction Beta-5 Protein 3
  • Connexin 31.1 2
  • Connexin-31.1 4

External Ids for GJB5 Gene

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, 31.1kDa) is a Protein Coding gene. Diseases associated with GJB5 include lung cancer. Among its related pathways are Clathrin derived vesicle budding and Myometrial Relaxation and Contraction Pathways. An important paralog of this gene is GJB3.

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 (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 GJB5 Gene

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

Genomics for GJB5 Gene

Genomic Location for GJB5 Gene

Start:
34,755,047 bp from pter
End:
34,758,512 bp from pter
Size:
3,466 bases
Orientation:
Plus strand

Genomic View for GJB5 Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for GJB5 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for GJB5 Gene

Regulatory Elements for GJB5 Gene

Proteins for GJB5 Gene

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

    Protein Symbol:
    O95377-CXB5_HUMAN
    Recommended name:
    Gap junction beta-5 protein
    Protein Accession:
    O95377
    Secondary Accessions:
    • Q9UPA3

    Protein attributes for GJB5 Gene

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

neXtProt entry for GJB5 Gene

Proteomics data for GJB5 Gene at MOPED

Post-translational modifications for GJB5 Gene

No Post-translational modifications

Other Protein References for GJB5 Gene

ENSEMBL proteins:
Reactome Protein details:
REFSEQ proteins:

No data available for DME Specific Peptides for GJB5 Gene

Domains for GJB5 Gene

Gene Families for GJB5 Gene

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

Protein Domains for GJB5 Gene

UniProtKB/Swiss-Prot:

CXB5_HUMAN
Family:
  • Belongs to the connexin family. Beta-type (group I) subfamily.:
    • O95377
genes like me logo Genes that share domains with GJB5: view

Function for GJB5 Gene

Molecular function for GJB5 Gene

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

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

miRNA for GJB5 Gene

miRTarBase miRNAs that target GJB5

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

COMPARTMENTS
Jensen Localization Image for GJB5 Gene 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:0005922 connexon complex IEA --
GO:0016021 integral component of membrane IEA --
genes like me logo Genes that share ontologies with GJB5: view

Pathways for GJB5 Gene

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

Pathways by source for GJB5 Gene

Interacting Proteins 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:0060708 spongiotrophoblast differentiation IEA --
GO:0060713 labyrinthine layer morphogenesis IEA --
genes like me logo Genes that share ontologies with GJB5: view

Compounds for GJB5 Gene

(4) 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 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 GJB5 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 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:

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

ExUns: 1a · 1b ^ 2a · 2b
SP1:
SP2:

Relevant External Links for GJB5 Gene

GeneLoc Exon Structure for
GJB5
ECgene alternative splicing isoforms for
GJB5

Expression for GJB5 Gene

mRNA expression in normal human tissues 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 (14.5), Skin - Sun Exposed (Lower leg) (12.5), Skin - Not Sun Exposed (Suprapubic) (12.3), and Vagina (4.2).

Integrated Proteomics: protein expression from ProteomicsDB, PaxDb, and MOPED for GJB5 Gene

SOURCE GeneReport for Unigene cluster for GJB5 Gene Hs.198249

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

Orthologs for GJB5 Gene

This gene was present in the common ancestor of chordates.

Orthologs for GJB5 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia GJB5 36
  • 98.78 (n)
  • 98.53 (a)
GJB5 37
  • 99 (a)
OneToOne
cow
(Bos Taurus)
Mammalia GJB5 36
  • 83.15 (n)
  • 80.95 (a)
GJB5 37
  • 81 (a)
OneToOne
dog
(Canis familiaris)
Mammalia GJB5 36
  • 82.05 (n)
  • 81.68 (a)
GJB5 37
  • 82 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Gjb5 36
  • 78.97 (n)
  • 77.49 (a)
Gjb5 16
Gjb5 37
  • 77 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia GJB5 37
  • 76 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia GJB5 37
  • 71 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Gjb5 36
  • 80.07 (n)
  • 75.65 (a)
chicken
(Gallus gallus)
Aves GJB5 36
  • 71.11 (n)
  • 67.08 (a)
lizard
(Anolis carolinensis)
Reptilia GJB5 37
  • 63 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia LOC101734565 36
  • 65.52 (n)
  • 68.24 (a)
zebrafish
(Danio rerio)
Actinopterygii cx28.6 37
  • 51 (a)
ManyToMany
cx30.9 37
  • 46 (a)
ManyToMany
cx34.4 37
  • 49 (a)
ManyToMany
Species with no ortholog for GJB5:
  • 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

ENSEMBL:
Gene Tree for GJB5 (if available)
TreeFam:
Gene Tree for GJB5 (if available)

Paralogs for GJB5 Gene

Paralogs for GJB5 Gene

Selected 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 Sequence Context AA Info Type MAF
rs2275229 -- 34,755,129(+) AATTC(A/G)AGCTG utr-variant-5-prime
rs3767676 -- 34,756,487(+) GAGTT(C/T)ATTAG intron-variant
rs3767677 -- 34,756,768(+) CCAGA(A/T)GGGGG intron-variant
rs3835620 -- 34,756,715(+) CATTG(-/GTCATGCTTCAAATG)AGTGG intron-variant
rs7514092 -- 34,754,135(+) ACCAG(A/G)CACCA upstream-variant-2KB

Structural Variations from Database of Genomic Variants (DGV) for GJB5 Gene

Variant ID Type Subtype PubMed ID
nsv870700 CNV Loss 21882294

Relevant External Links for GJB5 Gene

HapMap Linkage Disequilibrium report
GJB5

Disorders for GJB5 Gene

(1) MalaCards Diseases for GJB5 Gene

Search for GJB5 Gene in MalaCards »

(1) University of Copenhagen DISEASES for GJB5 Gene

Relevant External Links for GJB5

Genetic Association Database (GAD)
GJB5
Human Genome Epidemiology (HuGE) Navigator
GJB5
genes like me logo Genes that share disorders with GJB5: view

No data available for UniProtKB/Swiss-Prot for GJB5 Gene

Publications for GJB5 Gene

  1. Mutations in the human connexin gene GJB3 cause erythrokeratodermia variabilis. (PMID: 9843209) Richard G. … Bale S.J. (Nat. Genet. 1998) 2 3 4 23
  2. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard D.S. … Malek J. (Genome Res. 2004) 3 4
  3. The DNA sequence and biological annotation of human chromosome 1. (PMID: 16710414) Gregory S.G. … Bentley D.R. (Nature 2006) 3 4
  4. 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 Res. 2009) 3 49
  5. Connexin mutations in Brazilian patients with skin disorders with or without hearing loss. (PMID: 19283857) Alexandrino F. … Sartorato E.L. (Am. J. Med. Genet. A 2009) 3 23

Products for GJB5 Gene

Sources for GJB5 Gene

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