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Aliases for GJA3 Gene

Aliases for GJA3 Gene

  • Gap Junction Protein, Alpha 3, 46kDa 2 3
  • CX46 3 4 6
  • Connexin 46 2 3
  • Connexin-46 3 4
  • CTRCT14 3 6
  • CZP3 3 6
  • Gap Junction Protein, Alpha 3, 46kDa (Connexin 46) 2
  • Gap Junction Protein, Alpha 3, 46kD (Connexin 46) 2
  • Gap Junction Alpha-3 Protein 3
  • CAE3 6

External Ids for GJA3 Gene

Previous HGNC Symbols for GJA3 Gene

  • CZP3

Previous GeneCards Identifiers for GJA3 Gene

  • GC13M018696
  • GC13M014696
  • GC13M019646
  • GC13M018514
  • GC13M019614
  • GC13M020712
  • GC13M001517

Summaries for GJA3 Gene

Entrez Gene Summary for GJA3 Gene

  • The protein encoded by this gene is a connexin and is a component of lens fiber gap junctions. Defects in this gene are a cause of zonular pulverulent cataract type 3 (CZP3). [provided by RefSeq, Jan 2010]

GeneCards Summary for GJA3 Gene

GJA3 (Gap Junction Protein, Alpha 3, 46kDa) is a Protein Coding gene. Diseases associated with GJA3 include cataract 14, multiple types and pulverulent cataract. Among its related pathways are Clathrin derived vesicle budding and Myometrial Relaxation and Contraction Pathways. GO annotations related to this gene include gap junction channel activity. An important paralog of this gene is GJB3.

UniProtKB/Swiss-Prot for GJA3 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 GJA3 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 GJA3 Gene

No data available for PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for GJA3 Gene

Genomics for GJA3 Gene

Regulatory Elements for GJA3 Gene

Epigenetics Products

  • DNA Methylation CpG Assay Predesigned for Pyrosequencing in human,mouse,rat

Genomic Location for GJA3 Gene

20,138,255 bp from pter
20,161,385 bp from pter
23,131 bases
Minus strand

Genomic View for GJA3 Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for GJA3 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for GJA3 Gene

Proteins for GJA3 Gene

  • Protein details for GJA3 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Recommended name:
    Gap junction alpha-3 protein
    Protein Accession:
    Secondary Accessions:
    • Q0VAB7
    • Q9H537

    Protein attributes for GJA3 Gene

    435 amino acids
    Molecular mass:
    47410 Da
    Quaternary structure:
    • A connexon is composed of a hexamer of connexins. This particular connexin is a component of lens fiber gap junctions, can form both junctional and non-junctional ("hemi-") channels

neXtProt entry for GJA3 Gene

Proteomics data for GJA3 Gene at MOPED

Post-translational modifications for GJA3 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for GJA3 Gene

ENSEMBL proteins:
Reactome Protein details:
REFSEQ proteins:

Antibody Products

No data available for DME Specific Peptides for GJA3 Gene

Domains for GJA3 Gene

Gene Families for GJA3 Gene

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

Suggested Antigen Peptide Sequences for GJA3 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry



  • Q9Y6H8
  • Belongs to the connexin family. Alpha-type (group II) subfamily.
genes like me logo Genes that share domains with GJA3: view

Function for GJA3 Gene

Molecular function for GJA3 Gene

GENATLAS Biochemistry:
gap junction protein,alpha 3,46kDa (connexin 46),expressed in lens,monomer of the connexon (six subunits including GJA3,GJA8,GJB1,GJB2))
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 GJA3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005243 gap junction channel activity IEA --
genes like me logo Genes that share ontologies with GJA3: view

Phenotypes for GJA3 Gene

MGI mutant phenotypes for GJA3:
inferred from 1 alleles
GenomeRNAi human phenotypes for GJA3:
genes like me logo Genes that share phenotypes with GJA3: view

miRNA for GJA3 Gene

miRTarBase miRNAs that target GJA3

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for GJA3

In Situ Assay Products

Flow Cytometry Products

No data available for Enzyme Numbers (IUBMB) , Animal Models , Transcription Factor Targeting and HOMER Transcription for GJA3 Gene

Localization for GJA3 Gene

Subcellular locations from UniProtKB/Swiss-Prot for GJA3 Gene

Cell membrane; Multi-pass membrane protein. Cell junction, gap junction.

Subcellular locations from

Jensen Localization Image for GJA3 Gene COMPARTMENTS Subcellular localization image for GJA3 gene
Compartment Confidence
plasma membrane 5
nucleus 2
extracellular 1
peroxisome 1

Gene Ontology (GO) - Cellular Components for GJA3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005886 plasma membrane --
GO:0005921 gap junction --
GO:0005922 connexon complex IEA --
GO:0016021 integral component of membrane IEA --
genes like me logo Genes that share ontologies with GJA3: view

Pathways for GJA3 Gene

genes like me logo Genes that share pathways with GJA3: view

Pathways by source for GJA3 Gene

1 Qiagen pathway for GJA3 Gene
1 BioSystems pathway for GJA3 Gene
1 GeneGo (Thomson Reuters) pathway for GJA3 Gene

PCR Array Products

  • Pathway & Disease-focused RT² Profiler PCR Arrays

Gene Ontology (GO) - Biological Process for GJA3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006810 transport NAS 9413992
GO:0007267 cell-cell signaling TAS 9413992
GO:0007601 visual perception TAS 10205266
GO:0055085 transmembrane transport IEA --
genes like me logo Genes that share ontologies with GJA3: view

Compounds for GJA3 Gene

(5) Tocris Compounds for GJA3 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]

(4) IUPHAR Ligand for GJA3 Gene

Ligand Type Action Affinity Pubmed IDs
flufenamic acid Channel blocker None
octanol Inhibitor None
Ca2+ Antagonist Antagonist
carbenoxolone Inhibitor None

(3) Novoseek inferred chemical compound relationships for GJA3 Gene

Compound -log(P) Hits PubMed IDs
mp 26 84.4 2
lipid 0 1
calcium 0 3
genes like me logo Genes that share compounds with GJA3: view

Transcripts for GJA3 Gene

mRNA/cDNA for GJA3 Gene

(2) Selected AceView cDNA sequences:
(3) REFSEQ mRNAs :
(1) Additional mRNA sequences :
(1) Ensembl transcripts including schematic representations, and UCSC links where relevant :

Unigene Clusters for GJA3 Gene

Gap junction protein, alpha 3, 46kDa:
Representative Sequences:

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for GJA3

Primer Products

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for GJA3 Gene

No ASD Table

Relevant External Links for GJA3 Gene

GeneLoc Exon Structure for
ECgene alternative splicing isoforms for

Expression for GJA3 Gene

mRNA expression in normal human tissues for GJA3 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for GJA3 Gene

This gene is overexpressed in Heart - Left Ventricle (22.6), Heart - Atrial Appendage (8.3), and Artery - Coronary (4.2).

Integrated Proteomics: protein expression from ProteomicsDB, PaxDb, and MOPED for GJA3 Gene

SOURCE GeneReport for Unigene cluster for GJA3 Gene Hs.130313

genes like me logo Genes that share expressions with GJA3: view

In Situ Assay Products

No data available for Protein differential expression in normal tissues , mRNA Expression by UniProt/SwissProt and Expression partners for GJA3 Gene

Orthologs for GJA3 Gene

This gene was present in the common ancestor of chordates.

Orthologs for GJA3 Gene

Organism Taxonomy Gene Similarity Type Details
(Bos Taurus)
Mammalia GJA3 35
  • 76.72 (n)
  • 70.07 (a)
GJA3 36
  • 71 (a)
(Canis familiaris)
Mammalia GJA3 35
  • 79.58 (n)
  • 75.12 (a)
GJA3 36
  • 71 (a)
(Mus musculus)
Mammalia Gja3 35
  • 78.24 (n)
  • 77.09 (a)
Gja3 16
Gja3 36
  • 74 (a)
(Pan troglodytes)
Mammalia GJA3 35
  • 99.39 (n)
  • 99.54 (a)
GJA3 36
  • 100 (a)
(Rattus norvegicus)
Mammalia Gja3 35
  • 78.44 (n)
  • 75.99 (a)
(Monodelphis domestica)
Mammalia GJA3 36
  • 67 (a)
(Ornithorhynchus anatinus)
Mammalia GJA3 36
  • 63 (a)
(Gallus gallus)
Aves GJA3 35
  • 63.88 (n)
  • 61.95 (a)
GJA3 36
  • 51 (a)
tropical clawed frog
(Silurana tropicalis)
Amphibia gja3 35
  • 63.85 (n)
  • 66.67 (a)
Str.5420 35
African clawed frog
(Xenopus laevis)
Amphibia MGC53082 35
(Danio rerio)
Actinopterygii gja3 35
  • 65.31 (n)
  • 63.07 (a)
gja3 36
  • 59 (a)
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.2132 35
Species with no ortholog for GJA3:
  • 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)
  • 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)
  • lizard (Anolis carolinensis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • 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 GJA3 Gene

Gene Tree for GJA3 (if available)
Gene Tree for GJA3 (if available)

Paralogs for GJA3 Gene

Paralogs for GJA3 Gene

Selected SIMAP similar genes for GJA3 Gene using alignment to 1 proteins:

genes like me logo Genes that share paralogs with GJA3: view

Variants for GJA3 Gene

Sequence variations from dbSNP and Humsavar for GJA3 Gene

SNP ID Clin Chr 13 pos Sequence Context AA Info Type MAF
rs874728 -- 20,146,628(+) TGTTT(C/T)CTGAA intron-variant
rs876541 -- 20,140,790(+) GGCTG(C/T)CCACA utr-variant-3-prime
rs968566 - 20,142,394(-) TCAAA(A/C)TGCTA missense, reference
rs1041028 -- 20,149,559(-) TTGCT(A/G)AATTT intron-variant
rs1886176 -- 20,141,662(+) CACTA(A/C)AGAAC utr-variant-3-prime

Structural Variations from Database of Genomic Variants (DGV) for GJA3 Gene

Variant ID Type Subtype PubMed ID
nsv899868 CNV Gain 21882294
nsv899869 CNV Gain 21882294
nsv899870 CNV Loss 21882294
nsv899871 CNV Loss 21882294
nsv516427 CNV Loss 19592680
esv2667874 CNV Deletion 23128226
nsv899872 CNV Loss 21882294

Relevant External Links for GJA3 Gene

HapMap Linkage Disequilibrium report
Human Gene Mutation Database (HGMD)
Locus Specific Mutation Databases (LSDB)

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for GJA3 Gene

Disorders for GJA3 Gene

(1) OMIM Diseases for GJA3 Gene (121015)


  • Cataract 14, multiple types (CTRCT14) [MIM:601885]: An opacification of the crystalline lens of the eye that frequently results in visual impairment or blindness. Opacities vary in morphology, are often confined to a portion of the lens, and may be static or progressive. CTRCT14 includes zonular pulverulent cataract, among others. Zonular or lamellar cataracts are opacities, broad or narrow, usually consisting of powdery white dots affecting only certain layers or zones between the cortex and nucleus of an otherwise clear lens. The opacity may be so dense as to render the entire central region of the lens completely opaque, or so translucent that vision is hardly if at all impeded. Usually sharply separated from a clear cortex outside them, they may have projections from their outer edges known as riders or spokes. {ECO:0000269 PubMed:10205266, ECO:0000269 PubMed:10746562, ECO:0000269 PubMed:14627959, ECO:0000269 PubMed:15208569, ECO:0000269 PubMed:15286166, ECO:0000269 PubMed:15448617, ECO:0000269 PubMed:16234473, ECO:0000269 PubMed:16254549, ECO:0000269 PubMed:16885921, ECO:0000269 PubMed:16971895, ECO:0000269 PubMed:17615540, ECO:0000269 PubMed:17893674, ECO:0000269 PubMed:20431721, ECO:0000269 PubMed:21552498, ECO:0000269 PubMed:21647269, ECO:0000269 PubMed:21681855, ECO:0000269 PubMed:21897748, ECO:0000269 PubMed:22312188, ECO:0000269 PubMed:24772942, ECO:0000269 PubMed:25635993}. Note=The disease is caused by mutations affecting the gene represented in this entry.

(3) Novoseek inferred disease relationships for GJA3 Gene

Disease -log(P) Hits PubMed IDs
pulverulent zonular cataract 94.2 4
congenital cataract 85.1 10
cataract 63.2 9

Relevant External Links for GJA3

Human Genome Epidemiology (HuGE) Navigator
genes like me logo Genes that share disorders with GJA3: view

No data available for University of Copenhagen DISEASES and Genatlas for GJA3 Gene

Publications for GJA3 Gene

  1. Connexin46 mutations in autosomal dominant congenital cataract. (PMID: 10205266) Mackay D. … Bhattacharya S. (Am. J. Hum. Genet. 1999) 2 3 4 23
  2. A novel mutation in GJA3 (connexin46) for autosomal dominant congenital nuclear pulverulent cataract. (PMID: 14627959) Jiang H. … Hu L. (Mol. Vis. 2003) 3 4 23
  3. Further evidence of autosomal dominant congenital zonular pulverulent cataracts linked to 13q11 (CZP3) and a novel mutation in connexin 46 (GJA3). (PMID: 10746562) Rees M.I. … Gray J. (Hum. Genet. 2000) 3 4 23
  4. A novel missense mutation in the gene for gap-junction protein alpha3 (GJA3) associated with autosomal dominant 'nuclear punctate' cataracts linked to chromosome 13q. (PMID: 15208569) Bennett T.M. … Shiels A. (Mol. Vis. 2004) 3 4 23
  5. Novel mutations in GJA3 associated with autosomal dominant congenital cataract in the Indian population. (PMID: 16254549) Devi R.R. … Vijayalakshmi P. (Mol. Vis. 2005) 3 4 23

Products for GJA3 Gene

Sources for GJA3 Gene

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