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 ... See more...

Aliases for GJB3 Gene

Aliases for GJB3 Gene

  • Gap Junction Protein Beta 3 2 3 5
  • Gap Junction Protein, Beta 3, 31kDa 2 3
  • Gap Junction Beta-3 Protein 3 4
  • 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
  • Connexin-31 4
  • DFNA2B 3
  • EKVP1 3
  • DFNA2 3
  • Cx31 4
  • 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 1 and Deafness, Autosomal Dominant 2B. Among its related pathways are Myometrial Relaxation and Contraction Pathways and Gap junction trafficking. Gene Ontology (GO) annotations related to this gene include gap junction channel activity. An important paralog of this gene is GJB4.

UniProtKB/Swiss-Prot Summary 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

Additional gene information for GJB3 Gene

No data available for CIViC Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for GJB3 Gene

Genomics for GJB3 Gene

GeneHancer (GH) Regulatory Elements for GJB3 Gene

Promoters and enhancers for GJB3 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH01J034778 Promoter/Enhancer 1.6 EPDnew Ensembl ENCODE dbSUPER 510.1 +0.6 559 5.9 CTCF NRF1 ZFX POLR2A HDAC2 EZH2 MYC SMARCC1 CEBPG FOS GJB3 GJB5 CLSPN ENSG00000255811 SMIM12
GH01J034825 Enhancer 1.2 Ensembl ENCODE CraniofacialAtlas 15.6 +44.4 44412 1.2 KLF4 SKI CTBP1 MXI1 RBM25 FOXA2 SIN3A NR2F2 MYC SRSF1 GJB3 GJB4 SMIM12 hsa-miR-5095-012 piR-38344-002
GH01J034792 Promoter 1 EPDnew Ensembl 10.5 +14.0 14011 5.6 EZH2 PRDM10 VEZF1 PAX5 RFX5 ZFP36 BHLHE40 RUNX3 GJA4 GJB5 GJB4 GJB3 piR-38344-002 SMIM12
GH01J034835 Enhancer 0.6 Ensembl CraniofacialAtlas 15.6 +54.5 54512 1.4 NR2F2 RXRA ZNF121 SP1 MNT hsa-miR-5095-012 GJB3 SMIM12 GJB4 GJA4 ENSG00000230163
GH01J034841 Enhancer 1.5 Ensembl ENCODE CraniofacialAtlas dbSUPER 6.4 +63.5 63512 5.8 CTCF GTF2E2 PHB2 ZBTB11 TCF7 AFF1 TARDBP HES1 TOE1 MYC GJB4 ENSG00000230163 GJA4 GJB3 SMIM12 hsa-miR-5095-012
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around GJB3 on UCSC Golden Path with GeneCards custom track

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for GJB3

Top Transcription factor binding sites by QIAGEN in the GJB3 gene promoter:
  • c-Myc
  • CREB
  • GATA-1
  • Max1
  • USF-1
  • USF1

Genomic Locations for GJB3 Gene

Genomic Locations for GJB3 Gene
chr1:34,781,189-34,786,369
(GRCh38/hg38)
Size:
5,181 bases
Orientation:
Plus strand
chr1:35,246,790-35,251,970
(GRCh37/hg19)
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

HGNC:
IUPHAR :
Human Protein Atlas (HPA):
  • Disease related genes
  • Potential drug targets
  • Predicted membrane proteins
  • Transporters

Protein Domains for GJB3 Gene

Blocks:
  • Connexin, N terminal
  • Gap junction beta-3 protein (Cx31) signature
InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for GJB3 Gene

GenScript: Design optimal peptide antigens:
  • Gap junction protein (A1YRJ5_HUMAN)
  • Connexin-31 (CXB3_HUMAN)

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

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 3,connexin 31,monomer of the connexon (six subunits), expressed in inner ear tissues and epidermis

Phenotypes From GWAS Catalog for GJB3 Gene

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:
  • Gjb3 Gjb3<tm1.1(KOMP)Vlcg>
  • Gjb3 Gjb3<tm2.1Kwi>
  • Gjb3 Gjb3<tm1Kwi>

Animal Model Products

CRISPR Products

miRNA for GJB3 Gene

miRTarBase miRNAs that target GJB3

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for GJB3

Clone Products

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
extracellular 2
cytoskeleton 2
mitochondrion 2
nucleus 2
peroxisome 1
endoplasmic reticulum 1
cytosol 1
lysosome 1
golgi apparatus 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Cell Junctions (3)
  • Vesicles (2)
See all subcellular structures

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
  • Cell adhesion Gap junctions
1 Qiagen pathway for GJB3 Gene
  • Signaling in Gap Junctions

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
Flufenamic acid Approved Pharma Channel blocker, Inhibitor, Pore Blocker, Antagonist Calcium-activated chloride channel blocker; NSAID. Also activates TRPC6 1
Carbenoxolone Experimental Pharma Inhibitor 0
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

(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
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 GJB3: view

Transcripts for GJB3 Gene

mRNA/cDNA for GJB3 Gene

2 REFSEQ mRNAs :
9 NCBI additional mRNA sequence :
2 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for GJB3

Clone Products

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

No ASD Table

Relevant External Links for GJB3 Gene

GeneLoc Exon Structure for
GJB3

Expression for GJB3 Gene

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



Protein tissue co-expression partners for GJB3 Gene

- Elite partner

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for 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
Regions:
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

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 31 30
  • 87.9 (n)
OneToOne
dog
(Canis familiaris)
Mammalia GJB3 31 30
  • 85.68 (n)
OneToOne
rat
(Rattus norvegicus)
Mammalia Gjb3 30
  • 84.32 (n)
mouse
(Mus musculus)
Mammalia Gjb3 17 31 30
  • 83.33 (n)
oppossum
(Monodelphis domestica)
Mammalia GJB3 31
  • 78 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia GJB3 31
  • 77 (a)
OneToOne
chicken
(Gallus gallus)
Aves GJB3 31 30
  • 76.56 (n)
OneToOne
lizard
(Anolis carolinensis)
Reptilia GJB3 31
  • 73 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia gjb3 30
  • 69.19 (n)
Str.12131 30
African clawed frog
(Xenopus laevis)
Amphibia cx31-A 30
zebrafish
(Danio rerio)
Actinopterygii cx35.4 31 30
  • 71.81 (n)
OneToOne
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)
Aminode:
Evolutionary constrained regions (ECRs) for GJB3: view image

Paralogs for GJB3 Gene

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

  • CXB3_HUMAN
genes like me logo Genes that share paralogs with GJB3: view

Variants for GJB3 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for GJB3 Gene

SNP ID Clinical significance and condition Chr 01 pos Variation AA Info Type
668703 Likely Benign: not provided 34,784,795(+) C/T SYNONYMOUS_VARIANT
672974 Benign: not provided 34,784,692(+) A/G INTRON_VARIANT
711664 Likely Benign: not provided 34,784,819(+) G/A SYNONYMOUS_VARIANT
729734 Likely Benign: not provided 34,784,997(+) C/T SYNONYMOUS_VARIANT
740958 Benign: not provided 34,784,949(+) G/A MISSENSE_VARIANT

Additional dbSNP identifiers (rs#s) for GJB3 Gene

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)

Additional Variant Information for GJB3 Gene

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

SNP Genotyping and Copy Number Assay Products

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

Disorders for GJB3 Gene

MalaCards: The human disease database

(39) MalaCards diseases for GJB3 Gene - From: UniProtKB/Swiss-Prot, OMIM, ClinVar, GTR, Orphanet, DISEASES, Novoseek, and GeneCards

UniProtKB/Swiss-Prot

CXB3_HUMAN
  • Erythrokeratodermia variabilis et progressiva 1 (EKVP1) [MIM:133200]: A form of erythrokeratodermia variabilis et progressiva, a genodermatosis characterized by the coexistence of two independent skin lesions: transient erythema 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.
  • 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.

Additional Disease Information for GJB3

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

No data available for Genatlas for GJB3 Gene

Publications for GJB3 Gene

  1. Mutations in the gene encoding gap junction protein beta-3 associated with autosomal dominant hearing impairment. (PMID: 9843210) Xia JH … Huang JZ (Nature genetics 1998) 2 3 4 23 54
  2. Human gap junction protein connexin31: molecular cloning and expression analysis. (PMID: 9704026) Wenzel K … Traub O (Biochemical and biophysical research communications 1998) 2 3 4 23 54
  3. Mutation in gap and tight junctions in patients with non-syndromic hearing loss. (PMID: 19254696) Belguith H … Masmoudi S (Biochemical and biophysical research communications 2009) 3 23 41 54
  4. [Etiologic analysis of severe to profound hearing loss patients from Chifeng city in Inner Mongolia]. (PMID: 19558834) Yuan YY … Huang DL (Zhonghua er bi yan hou tou jing wai ke za zhi = Chinese journal of otorhinolaryngology head and neck surgery 2009) 3 23 41 54
  5. GJB2 mutations in patients with nonsyndromic hearing loss from Croatia. (PMID: 19814620) Sansović I … Pavelić J (Genetic testing and molecular biomarkers 2009) 3 23 41 54

Products for GJB3 Gene

Sources for GJB3 Gene