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Aliases for GJB3 Gene

Aliases for GJB3 Gene

  • Gap Junction Protein Beta 3 2 3 5
  • Gap Junction Protein, Beta 3, 31kDa 2 3
  • Connexin 31 2 3
  • CX31 3 4
  • Gap Junction Protein, Beta 3, 31kDa (Connexin 31) 2
  • Gap Junction Protein, Beta 3, 31kD (Connexin 31) 2
  • Erythrokeratodermia Variabilis 2
  • Gap Junction Beta-3 Protein 3
  • Connexin-31 4
  • DFNA2B 3
  • DFNA2 3
  • EKV 3

External Ids for GJB3 Gene

Previous HGNC Symbols for GJB3 Gene

  • DFNA2
  • EKV

Previous GeneCards Identifiers for GJB3 Gene

  • GC01P035070
  • GC01P034302
  • GC01P034673
  • GC00M9U0045
  • GC01P034915
  • GC01P035246
  • GC01P033365

Summaries for GJB3 Gene

Entrez Gene Summary for GJB3 Gene

  • This gene is a member of the connexin gene family. The encoded protein is a component of gap junctions, which are composed of arrays of intercellular channels that provide a route for the diffusion of low molecular weight materials from cell to cell. Mutations in this gene can cause non-syndromic deafness or erythrokeratodermia variabilis, a skin disorder. Alternative splicing results in multiple transcript variants encoding the same protein. [provided by RefSeq, Jul 2008]

GeneCards Summary for GJB3 Gene

GJB3 (Gap Junction Protein Beta 3) is a Protein Coding gene. Diseases associated with GJB3 include Erythrokeratodermia Variabilis Et Progressiva and Deafness, Autosomal Recessive. Among its related pathways are Development Slit-Robo signaling and Vesicle-mediated transport. GO annotations related to this gene include gap junction channel activity. An important paralog of this gene is GJB4.

UniProtKB/Swiss-Prot for GJB3 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 GJB3 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 GJB3 Gene

No data available for CIViC summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for GJB3 Gene

Genomics for GJB3 Gene

Regulatory Elements for GJB3 Gene

Enhancers for GJB3 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
GH01G034825 1.1 Ensembl ENCODE 15.6 +44.4 44447 0.9 FOXA2 ARID4B SIN3A ZNF48 RAD21 RARA YY1 ZNF121 GATA4 FOS GJB3 GJB4 SMIM12 GC01P034835 GJA4
GH01G034778 1.4 Ensembl ENCODE dbSUPER 10.2 +0.6 559 5.9 ZFP64 KLF17 ZBTB40 FOS RCOR1 EGR2 ZNF680 SMARCC1 ZBTB11 CEBPB ZMYM4 GJB5 ZMYM1 RPL5P4 GJB3 SFPQ CLSPN ENSG00000255811
GH01G034835 0.5 Ensembl 15.5 +54.8 54812 0.4 MNT PRDM4 NR2F2 GJB3 GJA4 GC01P034835 ENSG00000230163
GH01G034762 1.3 Ensembl ENCODE dbSUPER 5.8 -17.7 -17662 2.7 PKNOX1 KLF1 JUN KLF17 HIC1 ZBTB48 EED SCRT2 ZNF600 FOS GJB4 GJB3
GH01G034869 0.6 dbSUPER 11.1 +90.9 90890 5.2 NFIC MXI1 RFX1 SMARCA4 NFIB CEBPA MNT EP300 GJA4 ENSG00000255811 GJB3 GJB4 ENSG00000230163 NCDN GC01P034879 SMIM12
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around GJB3 on UCSC Golden Path with GeneCards custom track

Genomic Location for GJB3 Gene

Chromosome:
1
Start:
34,781,189 bp from pter
End:
34,786,369 bp from pter
Size:
5,181 bases
Orientation:
Plus strand

Genomic View for GJB3 Gene

Genes around GJB3 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
GJB3 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for GJB3 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for GJB3 Gene

Proteins for GJB3 Gene

  • Protein details for GJB3 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    O75712-CXB3_HUMAN
    Recommended name:
    Gap junction beta-3 protein
    Protein Accession:
    O75712
    Secondary Accessions:
    • B2R790
    • Q2TAZ8

    Protein attributes for GJB3 Gene

    Size:
    270 amino acids
    Molecular mass:
    30818 Da
    Quaternary structure:
    • A connexon is composed of a hexamer of connexins. Interacts with CNST (By similarity).

neXtProt entry for GJB3 Gene

Post-translational modifications for GJB3 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for GJB3 Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for GJB3 Gene

Domains & Families for GJB3 Gene

Gene Families for GJB3 Gene

Suggested Antigen Peptide Sequences for GJB3 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

O75712

UniProtKB/Swiss-Prot:

CXB3_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 GJB3: view

Function for GJB3 Gene

Molecular function for GJB3 Gene

GENATLAS Biochemistry:
gap junction protein beta 3,connexin 31,monomer of the connexon (six subunits), expressed in inner ear tissues and 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.

Gene Ontology (GO) - Molecular Function for GJB3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005243 gap junction channel activity NAS 9704026
genes like me logo Genes that share ontologies with GJB3: view
genes like me logo Genes that share phenotypes with GJB3: view

Human Phenotype Ontology for GJB3 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for GJB3 Gene

MGI Knock Outs for GJB3:

Animal Model Products

CRISPR Products

miRNA for GJB3 Gene

miRTarBase miRNAs that target GJB3

Inhibitory RNA Products

Clone Products

  • Applied Biological Materials Clones for GJB3

No data available for Enzyme Numbers (IUBMB) , Transcription Factor Targets and HOMER Transcription for GJB3 Gene

Localization for GJB3 Gene

Subcellular locations from UniProtKB/Swiss-Prot for GJB3 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 GJB3 gene
Compartment Confidence
plasma membrane 5
mitochondrion 2

Gene Ontology (GO) - Cellular Components for GJB3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005737 cytoplasm IEA --
GO:0005886 plasma membrane IEA --
GO:0005911 cell-cell junction IEA --
GO:0005921 gap junction NAS 9704026
GO:0005922 connexin complex IEA --
genes like me logo Genes that share ontologies with GJB3: view

Pathways & Interactions for GJB3 Gene

genes like me logo Genes that share pathways with GJB3: view

Pathways by source for GJB3 Gene

1 GeneGo (Thomson Reuters) pathway for GJB3 Gene
1 Qiagen pathway for GJB3 Gene

Gene Ontology (GO) - Biological Process for GJB3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001701 in utero embryonic development IEA --
GO:0001890 placenta development IEA --
GO:0007154 cell communication IEA --
GO:0007283 spermatogenesis IEA --
GO:0043588 skin development IEA --
genes like me logo Genes that share ontologies with GJB3: view

No data available for SIGNOR curated interactions for GJB3 Gene

Drugs & Compounds for GJB3 Gene

(11) Drugs for GJB3 Gene - From: DGIdb, IUPHAR, Tocris, and Novoseek

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

(1) Additional Compounds for GJB3 Gene - From: Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs

(5) Tocris Compounds for GJB3 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 GJB3: view

Transcripts for GJB3 Gene

mRNA/cDNA for GJB3 Gene

Unigene Clusters for GJB3 Gene

Gap junction protein, beta 3, 31kDa:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

Clone Products

  • Applied Biological Materials Clones for GJB3

Alternative Splicing Database (ASD) splice patterns (SP) for GJB3 Gene

No ASD Table

Relevant External Links for GJB3 Gene

GeneLoc Exon Structure for
GJB3
ECgene alternative splicing isoforms for
GJB3

Expression for GJB3 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for GJB3 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for GJB3 Gene

This gene is overexpressed in Skin - Sun Exposed (Lower leg) (x16.4), Skin - Not Sun Exposed (Suprapubic) (x16.2), and Esophagus - Mucosa (x9.7).

Protein differential expression in normal tissues from HIPED for GJB3 Gene

This gene is overexpressed in Adipocyte (69.0).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, and MOPED for GJB3 Gene



Protein tissue co-expression partners for GJB3 Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of GJB3 Gene:

GJB3

SOURCE GeneReport for Unigene cluster for GJB3 Gene:

Hs.522561

Evidence on tissue expression from TISSUES for GJB3 Gene

  • Skin(4.6)
  • Nervous system(4.2)

Phenotype-based relationships between genes and organs from Gene ORGANizer for GJB3 Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
Systems:
  • cardiovascular
  • endocrine
  • immune
  • integumentary
  • nervous
  • skeletal muscle
  • skeleton
  • urinary
Organs:
Head and neck:
  • brain
  • cerebellum
  • cranial nerve
  • ear
  • eye
  • head
  • inner ear
  • middle ear
  • outer ear
  • skull
Thorax:
  • heart
  • heart valve
Abdomen:
  • kidney
  • pancreas
Limb:
  • digit
  • finger
  • foot
  • forearm
  • hand
  • lower limb
  • nail
  • upper limb
General:
  • blood
  • blood vessel
  • hair
  • peripheral nerve
  • peripheral nervous system
  • skin
  • sweat gland
genes like me logo Genes that share expression patterns with GJB3: view

Primer Products

No data available for mRNA Expression by UniProt/SwissProt for GJB3 Gene

Orthologs for GJB3 Gene

This gene was present in the common ancestor of chordates.

Orthologs for GJB3 Gene

Organism Taxonomy Gene Similarity Type Details
cow
(Bos Taurus)
Mammalia GJB3 34 35
  • 87.9 (n)
dog
(Canis familiaris)
Mammalia GJB3 34 35
  • 85.68 (n)
rat
(Rattus norvegicus)
Mammalia Gjb3 34
  • 84.32 (n)
mouse
(Mus musculus)
Mammalia Gjb3 34 16 35
  • 83.33 (n)
oppossum
(Monodelphis domestica)
Mammalia GJB3 35
  • 78 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia GJB3 35
  • 77 (a)
OneToOne
chicken
(Gallus gallus)
Aves GJB3 34 35
  • 76.56 (n)
lizard
(Anolis carolinensis)
Reptilia GJB3 35
  • 73 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia gjb3 34
  • 69.19 (n)
Str.12131 34
African clawed frog
(Xenopus laevis)
Amphibia cx31-A 34
zebrafish
(Danio rerio)
Actinopterygii cx35.4 34 35
  • 71.81 (n)
Species where no ortholog for GJB3 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • 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)
  • chimpanzee (Pan troglodytes)
  • 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 GJB3 Gene

ENSEMBL:
Gene Tree for GJB3 (if available)
TreeFam:
Gene Tree for GJB3 (if available)

Paralogs for GJB3 Gene

Paralogs for GJB3 Gene

(14) SIMAP similar genes for GJB3 Gene using alignment to 1 proteins:

genes like me logo Genes that share paralogs with GJB3: view

Variants for GJB3 Gene

Sequence variations from dbSNP and Humsavar for GJB3 Gene

SNP ID Clin Chr 01 pos Sequence Context AA Info Type
rs74315315 Pathogenic, Erythrokeratodermia variabilis (EKV) [MIM:133200] 34,784,796(+) TGAGC(A/C/G)GTGTG intron-variant, reference, missense
rs74315316 Pathogenic, Erythrokeratodermia variabilis (EKV) [MIM:133200] 34,784,797(+) GAGCG(A/G)TGTGA intron-variant, reference, missense
rs74315317 Pathogenic, Erythrokeratodermia variabilis (EKV) [MIM:133200] 34,785,018(+) TCACA(A/C/T)GCCCC intron-variant, reference, missense
rs74315318 Pathogenic, Deafness, autosomal dominant, 2B (DFNA2B) [MIM:612644] 34,785,309(+) CTACC(A/G)AGAAG intron-variant, reference, missense
rs74315320 Pathogenic, Deafness, autosomal dominant, 2B (DFNA2B) [MIM:612644] 34,785,183(+) TCATC(A/G)TTGAG intron-variant, reference, missense

Structural Variations from Database of Genomic Variants (DGV) for GJB3 Gene

Variant ID Type Subtype PubMed ID
nsv1012995 CNV gain 25217958
nsv947426 CNV duplication 23825009

Variation tolerance for GJB3 Gene

Residual Variation Intolerance Score: 84.6% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 3.71; 57.47% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for GJB3 Gene

Human Gene Mutation Database (HGMD)
GJB3
SNPedia medical, phenotypic, and genealogical associations of SNPs for
GJB3

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for GJB3 Gene

Disorders for GJB3 Gene

MalaCards: The human disease database

(28) MalaCards diseases for GJB3 Gene - From: OMIM, ClinVar, GeneTests, Orphanet, Swiss-Prot, DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
erythrokeratodermia variabilis et progressiva
  • erythrokeratodermia variabilis with erythema gyratum repens
deafness, autosomal recessive
deafness, autosomal dominant 2b
  • autosomal dominant nonsyndromic deafness 2b
neuropathy with hearing impairment
deafness, autosomal recessive 1a
  • deafness, digenic, gjb2/gjb3
- elite association - COSMIC cancer census association via MalaCards
Search GJB3 in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

CXB3_HUMAN
  • Deafness, autosomal dominant, 2B (DFNA2B) [MIM:612644]: A form of non-syndromic sensorineural deafness characterized by progressive high frequency hearing loss in adulthood, with milder expression in females. {ECO:0000269 PubMed:9843210}. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • 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:10594760, ECO:0000269 PubMed:10798362, ECO:0000269 PubMed:9843209}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Relevant External Links for GJB3

Genetic Association Database (GAD)
GJB3
Human Genome Epidemiology (HuGE) Navigator
GJB3
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
GJB3
genes like me logo Genes that share disorders with GJB3: view

No data available for Genatlas for GJB3 Gene

Publications for GJB3 Gene

  1. Human gap junction protein connexin31: molecular cloning and expression analysis. (PMID: 9704026) Wenzel K. … Traub O. (Biochem. Biophys. Res. Commun. 1998) 2 3 4 22 64
  2. Mutations in the gene encoding gap junction protein beta-3 associated with autosomal dominant hearing impairment. (PMID: 9843210) Xia J.-H. … Huang J.Z. (Nat. Genet. 1998) 2 3 4 22 64
  3. [Etiologic analysis of severe to profound hearing loss patients from Chifeng city in Inner Mongolia]. (PMID: 19558834) Yuan Y.Y. … Huang D.L. (Zhonghua Er Bi Yan Hou Tou Jing Wai Ke Za Zhi 2009) 3 22 46 64
  4. Splice variant IVS2-2A&amp;gt;G in the SLC26A5 (Prestin) gene in five Estonian families with hearing loss. (PMID: 19027966) Teek R. … Ounap K. (Int. J. Pediatr. Otorhinolaryngol. 2009) 3 22 46 64
  5. Mutation in gap and tight junctions in patients with non-syndromic hearing loss. (PMID: 19254696) Belguith H. … Masmoudi S. (Biochem. Biophys. Res. Commun. 2009) 3 22 46 64

Products for GJB3 Gene

Sources for GJB3 Gene

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