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Aliases for GJA3 Gene

Aliases for GJA3 Gene

  • Gap Junction Protein Alpha 3 2 3 5
  • Gap Junction Protein, Alpha 3, 46kDa 2 3
  • Connexin-46 3 4
  • Gap Junction Protein, Alpha 3, 46kDa (Connexin 46) 2
  • Gap Junction Protein, Alpha 3, 46kD (Connexin 46) 2
  • Gap Junction Alpha-3 Protein 3
  • Gap Junction Alpha 3 3
  • Connexin 46 2
  • CTRCT14 3
  • CX46 3
  • CZP3 3
  • Cx46 4

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) is a Protein Coding gene. Diseases associated with GJA3 include Cataract 14, Multiple Types and Early-Onset Nuclear Cataract. Among its related pathways are Development Slit-Robo signaling and Vesicle-mediated transport. Gene Ontology (GO) annotations related to this gene include gap junction channel activity. An important paralog of this gene is GJA8.

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 (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 GJA3 Gene

Additional gene information for GJA3 Gene

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

Genomics for GJA3 Gene

GeneHancer (GH) Regulatory Elements for GJA3 Gene

Promoters and enhancers for GJA3 Gene
GeneHancer (GH) Identifier GH Type GH
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH13J020159 Promoter/Enhancer 1.6 FANTOM5 Ensembl ENCODE 655.4 +0.5 506 2 PKNOX1 FEZF1 BMI1 ZNF335 GLIS2 EGR1 EGR2 ZNF202 ZNF398 ELF1 GJA3 ZMYM2 ZMYM5 XPO4 PSPC1 LOC105370101
GH13J020126 Enhancer 1.4 FANTOM5 Ensembl ENCODE 17.1 +33.6 33610 2.5 ARID4B SIN3A DMAP1 GLI4 ZNF2 ZNF48 YY1 GLIS2 KLF7 SP3 GJA3 PPIAP28 CRYL1 PARP4P2 ZMYM5 PSPC1 LOC105370101
GH13J020190 Promoter/Enhancer 1.8 EPDnew Ensembl ENCODE 12.6 -30.2 -30236 3.2 ZNF133 THRB YY1 ZNF335 GLIS2 ATF7 EGR2 SP3 RXRA SP1 GJB2 GJA3 LINC00556
GH13J020118 Enhancer 1.5 FANTOM5 Ensembl ENCODE 8.3 +41.5 41464 3.8 PKNOX1 CLOCK FOXA2 SIN3A ZNF2 YY1 ZNF121 GLIS2 FOS SP3 LOC105370101 ZMYM5 ZMYM2 XPO4 MPHOSPH8 RNU2-7P GJA3 PSPC1 CRYL1 LINC01072
GH13J020124 Enhancer 0.5 ENCODE 12.7 +35.8 35838 1.1 ZNF335 ZNF629 PRDM10 FOS GJA3 PPIAP28 ZMYM2 LOC105370101
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around GJA3 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the GJA3 gene promoter:
  • Bach2
  • HNF-3beta
  • ZIC2
  • POU2F1a
  • POU2F1
  • CBF(2)
  • CBF-A
  • CBF-B
  • CP1A
  • NF-Y

Genomic Locations for GJA3 Gene

Genomic Locations for GJA3 Gene
23,131 bases
Minus strand
22,795 bases
Minus strand

Genomic View for GJA3 Gene

Genes around GJA3 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
GJA3 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
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

Post-translational modifications for GJA3 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for GJA3 Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for GJA3 Gene

Domains & Families for GJA3 Gene

Gene Families for GJA3 Gene

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

Suggested Antigen Peptide Sequences for GJA3 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry



  • Belongs to the connexin family. Alpha-type (group II) subfamily.
  • 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

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,alpha 3,46kDa (connexin 46),expressed in lens,monomer of the connexon (six subunits including GJA3,GJA8,GJB1,GJB2))

Phenotypes From GWAS Catalog for GJA3 Gene

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

Human Phenotype Ontology for GJA3 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for GJA3 Gene

MGI Knock Outs for GJA3:

Animal Model Products

CRISPR Products

miRNA for GJA3 Gene

miRTarBase miRNAs that target GJA3

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for GJA3

No data available for Enzyme Numbers (IUBMB) , Transcription Factor Targets 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

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 GJA3 gene
Compartment Confidence
plasma membrane 5
extracellular 1
peroxisome 1
nucleus 1

Gene Ontology (GO) - Cellular Components for GJA3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005886 plasma membrane IEA --
GO:0005921 gap junction IEA --
GO:0005922 connexin complex IEA --
GO:0016020 membrane IEA --
GO:0016021 integral component of membrane IEA --
genes like me logo Genes that share ontologies with GJA3: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for GJA3 Gene

Pathways & Interactions for GJA3 Gene

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

Pathways by source for GJA3 Gene

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

Gene Ontology (GO) - Biological Process for GJA3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0007154 cell communication IEA --
GO:0007267 cell-cell signaling TAS 9413992
GO:0007601 visual perception TAS,IEA --
GO:0055085 transmembrane transport IEA --
genes like me logo Genes that share ontologies with GJA3: view

No data available for SIGNOR curated interactions for GJA3 Gene

Drugs & Compounds for GJA3 Gene

(10) Drugs for GJA3 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, Inhibitor, Pore Blocker, Antagonist Calcium-activated chloride channel blocker; NSAID. Also activates TRPC6 1
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

(2) Additional Compounds for GJA3 Gene - From: Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs

(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
genes like me logo Genes that share compounds with GJA3: view

Transcripts for GJA3 Gene

mRNA/cDNA for GJA3 Gene

(2) REFSEQ mRNAs :
(1) Additional mRNA sequences :
(2) Selected AceView cDNA 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:

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for GJA3

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 from GTEx, Illumina, BioGPS, and CGAP SAGE 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 (x22.6), Heart - Atrial Appendage (x8.3), and Artery - Coronary (x4.2).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for GJA3 Gene

NURSA nuclear receptor signaling pathways regulating expression of GJA3 Gene:


SOURCE GeneReport for Unigene cluster for GJA3 Gene:


Evidence on tissue expression from TISSUES for GJA3 Gene

  • Eye(4.5)

Phenotype-based relationships between genes and organs from Gene ORGANizer for GJA3 Gene

Germ Layers:
  • ectoderm
  • mesoderm
  • nervous
  • skeletal muscle
Head and neck:
  • brain
  • cranial nerve
  • eye
  • head
  • peripheral nervous system
genes like me logo Genes that share expression patterns with GJA3: view

No data available for Protein differential expression in normal tissues , Protein tissue co-expression partners and mRNA Expression by UniProt/SwissProt 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
(Pan troglodytes)
Mammalia GJA3 34 33
  • 99.39 (n)
(Canis familiaris)
Mammalia GJA3 34 33
  • 79.58 (n)
(Rattus norvegicus)
Mammalia Gja3 33
  • 78.44 (n)
(Mus musculus)
Mammalia Gja3 16 34 33
  • 78.24 (n)
(Bos Taurus)
Mammalia GJA3 34 33
  • 76.72 (n)
(Monodelphis domestica)
Mammalia GJA3 34
  • 67 (a)
(Ornithorhynchus anatinus)
Mammalia GJA3 34
  • 63 (a)
(Gallus gallus)
Aves GJA3 34 33
  • 63.88 (n)
tropical clawed frog
(Silurana tropicalis)
Amphibia gja3 33
  • 63.85 (n)
Str.5420 33
African clawed frog
(Xenopus laevis)
Amphibia MGC53082 33
(Danio rerio)
Actinopterygii gja3 34 33
  • 65.31 (n)
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.2132 33
Species where no ortholog for GJA3 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)
  • 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)
Evolutionary constrained regions (ECRs) for GJA3: view image

Paralogs for GJA3 Gene

Paralogs for GJA3 Gene

(16) 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 Variation AA Info Type
rs1055113271 uncertain-significance, Zonular Pulverulent Cataract 20,140,805(-) T/G 3_prime_UTR_variant
rs111863858 likely-benign, Zonular Pulverulent Cataract 20,142,914(-) T/C coding_sequence_variant, synonymous_variant
rs11617415 benign, not specified, Zonular Pulverulent Cataract 20,142,272(-) C/A/G/T coding_sequence_variant, synonymous_variant
rs121917823 pathogenic, Zonular pulverulent cataract 3, Cataract 14, multiple types (CTRCT14) [MIM:601885] 20,143,101(-) T/C coding_sequence_variant, missense_variant
rs121917825 pathogenic, Zonular pulverulent cataract 3, Cataract 14, multiple types (CTRCT14) [MIM:601885] 20,142,729(-) G/A coding_sequence_variant, missense_variant

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

Variant ID Type Subtype PubMed ID
esv2667874 CNV deletion 23128226
esv3631421 CNV gain 21293372
esv3631422 CNV gain 21293372
esv3631423 CNV loss 21293372
nsv1037299 CNV gain 25217958
nsv1046946 CNV gain 25217958
nsv1078303 OTHER inversion 25765185
nsv1140246 OTHER inversion 24896259
nsv1151909 OTHER inversion 26484159
nsv516427 CNV loss 19592680

Variation tolerance for GJA3 Gene

Gene Damage Index Score: 0.62; 13.40% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for GJA3 Gene

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

SNP Genotyping and Copy Number Assay Products

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

Disorders for GJA3 Gene

MalaCards: The human disease database

(11) MalaCards diseases for GJA3 Gene - From: HGMD, OMIM, ClinVar, GTR, Orphanet, Swiss-Prot, DISEASES, Novoseek, and GeneCards

- elite association - COSMIC cancer census association via MalaCards
Search GJA3 in MalaCards View complete list of genes associated with diseases


  • 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, ECO:0000269 PubMed:26683566}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Additional Disease Information for GJA3

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

No data available for Genatlas for GJA3 Gene

Publications for GJA3 Gene

  1. Connexin46 mutations in autosomal dominant congenital cataract. (PMID: 10205266) Mackay D … Bhattacharya S (American journal of human genetics 1999) 2 3 4 22 58
  2. Mutation analysis of congenital cataract in a Chinese family identified a novel missense mutation in the connexin 46 gene (GJA3). (PMID: 20431721) Zhou Z … Qi Y (Molecular vision 2010) 3 4 22 58
  3. A novel "pearl box" cataract associated with a mutation in the connexin 46 (GJA3) gene. (PMID: 17615540) Guleria K … Singh JR (Molecular vision 2007) 3 4 22 58
  4. A novel mutation in the connexin 46 (GJA3) gene associated with autosomal dominant congenital cataract in an Indian family. (PMID: 17893674) Guleria K … Vanita V (Molecular vision 2007) 3 4 22 58
  5. A novel mutation in the connexin 46 gene (GJA3) causes autosomal dominant zonular pulverulent cataract in a Hispanic family. (PMID: 16885921) Addison PK … Bhattacharya SS (Molecular vision 2006) 3 4 22 58

Products for GJA3 Gene

Sources for GJA3 Gene

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