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Aliases for GJB5 Gene

Aliases for GJB5 Gene

  • Gap Junction Protein, Beta 5, 31.1kDa 2 3
  • Gap Junction Protein, Beta 5 (Connexin 31.1) 2 3
  • CX31.1 3 4
  • Gap Junctional Protein Cx31.1 3
  • Gap Junction Protein, Beta 5 2
  • 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, 31.1kDa) is a Protein Coding gene. Among its related pathways are Vesicle-mediated transport 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 (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 PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for GJB5 Gene

Genomics for GJB5 Gene

Regulatory Elements for GJB5 Gene

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

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

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

  • 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

miRNA for GJB5 Gene

miRTarBase miRNAs that target GJB5

miRNA Products

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for GJB5

In Situ Assay Products

Flow Cytometry Products

No data available for Enzyme Numbers (IUBMB) , Gene Ontology (GO) - Molecular Function , Animal Models , 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
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 & Interactions for GJB5 Gene

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

Pathways by source for GJB5 Gene

PCR Array Products

  • Pathway & Disease-focused RT² Profiler PCR Arrays

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: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: IUPHAR, DGIdb, 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 Antagonist 0
octanol Pharma Inhibitor 0
10Panx Pharma Panx-1 mimetic inhibitor, Panx-1 mimetic inhibitory peptide; blocks pannexin-1 gap junctions 0
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:

miRNA Products

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for GJB5

Flow Cytometry Products

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 (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



SOURCE GeneReport for Unigene cluster for GJB5 Gene Hs.198249

genes like me logo Genes that share expression patterns with GJB5: view

Protein tissue co-expression partners for GJB5 Gene

Primer Products

In Situ Assay Products

No data available for mRNA Expression by UniProt/SwissProt 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
cow
(Bos Taurus)
Mammalia GJB5 35
  • 83.15 (n)
  • 80.95 (a)
GJB5 36
  • 81 (a)
OneToOne
dog
(Canis familiaris)
Mammalia GJB5 35
  • 82.05 (n)
  • 81.68 (a)
GJB5 36
  • 82 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Gjb5 35
  • 78.97 (n)
  • 77.49 (a)
Gjb5 16
Gjb5 36
  • 77 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia GJB5 35
  • 98.78 (n)
  • 98.53 (a)
GJB5 36
  • 99 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Gjb5 35
  • 80.07 (n)
  • 75.65 (a)
oppossum
(Monodelphis domestica)
Mammalia GJB5 36
  • 76 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia GJB5 36
  • 71 (a)
OneToOne
chicken
(Gallus gallus)
Aves GJB5 35
  • 71.11 (n)
  • 67.08 (a)
lizard
(Anolis carolinensis)
Reptilia GJB5 36
  • 63 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia LOC101734565 35
  • 65.52 (n)
  • 68.24 (a)
zebrafish
(Danio rerio)
Actinopterygii cx28.6 36
  • 51 (a)
ManyToMany
cx30.9 36
  • 46 (a)
ManyToMany
cx34.4 36
  • 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

(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

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

Variant ID Type Subtype PubMed ID
nsv870700 CNV Loss 21882294

Variation tolerance for GJB5 Gene

Residual Variation Intolerance Score: 79.49% 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

HapMap Linkage Disequilibrium report
GJB5

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot and Sequence variations from dbSNP and Humsavar 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
genes like me logo Genes that share disorders with GJB5: view

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 23 67
  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) 23 67
  3. Connexin mRNA expression in single dopaminergic neurons of substantia nigra pars compacta. (PMID: 17014920) Vandecasteele M. … Venance L. (Neurosci. Res. 2006) 23 67
  4. mRNA expression pattern of multiple members of connexin gene family in normal and abnormal fetal gonads in mouse. (PMID: 15255617) Juneja S.C. (Indian J. Physiol. Pharmacol. 2003) 23 67
  5. Erythrokeratoderma variabilis without connexin 31 or connexin 30.3 gene mutation: immunohistological, ultrastructural and genetic studies. (PMID: 12926797) Arita K. … Shimizu H. (Acta Derm. Venereol. 2003) 23 67

Products for GJB5 Gene

Sources for GJB5 Gene

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