Free for academic non-profit institutions. Other users need a Commercial license

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
  • CX31.1 3 4
  • 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

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

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

Genomics for GJB5 Gene

Regulatory Elements for GJB5 Gene

Enhancers for GJB5 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH01G034778 1.4 Ensembl ENCODE dbSUPER 13 +26.7 26702 5.9 ZFP64 KLF17 ZBTB40 FOS RCOR1 EGR2 ZNF680 SMARCC1 ZBTB11 CEBPB ZMYM4 GJB5 ZMYM1 RPL5P4 GJB3 SFPQ CLSPN ENSG00000255811
GH01G034754 0.9 ENCODE dbSUPER 15.7 +0.0 9 2.8 HDGF ZNF263 SMARCA5 CTCF STAT1 MAZ KLF1 REST ZIC2 RAD21 GJB5 GJB4
GH01G034798 0.7 ENCODE 15.4 +43.8 43812 1.0 ELF3 RNF2 SAP130 MAFG ATF2 NR2F2 TEAD3 ZNF316 KDM1A NFE2 GJB5 GJB4 GJB3 GJA4 GC01P034835
GH01G034753 0.5 ENCODE 0.7 -1.7 -1732 0.2 CTCF ZNF555 ZNF316 FOS RAD21 ZMYM4 GJB5 LOC105378642
GH01G034742 0.7 ENCODE 0.4 -12.2 -12221 1.2 CTCF RB1 RAD21 ZKSCAN1 ZNF143 SMC3 ZNF600 ZNF654 BHLHE40 TRIM22 GJB5 LOC105378642
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around GJB5 on UCSC Golden Path with GeneCards custom track

Genomic Location for GJB5 Gene

Chromosome:
1
Start:
34,755,046 bp from pter
End:
34,758,512 bp from pter
Size:
3,467 bases
Orientation:
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:
    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

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

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

O95377

UniProtKB/Swiss-Prot:

CXB5_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 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.
genes like me logo Genes that share phenotypes with GJB5: view

Animal Models for GJB5 Gene

MGI Knock Outs for GJB5:

Animal Model Products

CRISPR Products

miRNA for GJB5 Gene

miRTarBase miRNAs that target GJB5

Inhibitory RNA Products

Clone Products

  • Applied Biological Materials Clones for GJB5
  • 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

COMPARTMENTS
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

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 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

(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
Gap19 Cx43 hemichannel blocker 1507930-57-5
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:

CRISPR Products

Inhibitory RNA Products

Clone Products

  • Applied Biological Materials Clones for GJB5
  • 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
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 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, PaxDb, and MOPED for GJB5 Gene



Protein tissue co-expression partners for GJB5 Gene

NURSA nuclear receptor signaling pathways regulating expression of GJB5 Gene:

GJB5

SOURCE GeneReport for Unigene cluster for GJB5 Gene:

Hs.198249

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

Primer Products

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
chimpanzee
(Pan troglodytes)
Mammalia GJB5 34 35
  • 98.78 (n)
cow
(Bos Taurus)
Mammalia GJB5 34 35
  • 83.15 (n)
dog
(Canis familiaris)
Mammalia GJB5 34 35
  • 82.05 (n)
rat
(Rattus norvegicus)
Mammalia Gjb5 34
  • 80.07 (n)
mouse
(Mus musculus)
Mammalia Gjb5 34 16 35
  • 78.97 (n)
oppossum
(Monodelphis domestica)
Mammalia GJB5 35
  • 76 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia GJB5 35
  • 71 (a)
OneToOne
chicken
(Gallus gallus)
Aves GJB5 34
  • 71.11 (n)
lizard
(Anolis carolinensis)
Reptilia GJB5 35
  • 63 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia LOC101734565 34
  • 65.52 (n)
zebrafish
(Danio rerio)
Actinopterygii cx28.6 35
  • 51 (a)
ManyToMany
cx34.4 35
  • 49 (a)
ManyToMany
cx30.9 35
  • 46 (a)
ManyToMany
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

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

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 Sequence Context AA Info Type
rs1000133756 -- 34,753,553(+) ATGTA(C/G)CAATC intron-variant, upstream-variant-2KB
rs1000591147 -- 34,756,359(+) CACTT(C/G)ATGTC intron-variant
rs1000799738 -- 34,756,634(+) ACACT(A/G)GAATA intron-variant
rs1001321641 -- 34,753,521(+) AGACT(A/G)TAACT intron-variant, upstream-variant-2KB
rs1001461932 -- 34,758,874(+) GTTGT(A/G)CTGAG intron-variant, downstream-variant-500B, upstream-variant-2KB

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)

Relevant External Links for GJB5 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
GJB5

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

Relevant External Links for GJB5

Genetic Association Database (GAD)
GJB5
Human Genome Epidemiology (HuGE) Navigator
GJB5
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
GJB5

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 S.J. (Nat. Genet. 1998) 2 3 4 22 64
  2. 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 22 64
  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 Res. 2009) 3 46 64
  4. The DNA sequence and biological annotation of human chromosome 1. (PMID: 16710414) Gregory S.G. … Bentley D.R. (Nature 2006) 3 4 64
  5. 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 64

Products for GJB5 Gene

Sources for GJB5 Gene

Content
Loading form....