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Aliases for GJA3 Gene

Aliases for GJA3 Gene

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

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 pulverulent cataract and cataract 14, multiple types. Among its related pathways are Vesicle-mediated transport 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 (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

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

Chromosome:
13
Start:
20,138,255 bp from pter
End:
20,161,385 bp from pter
Size:
23,131 bases
Orientation:
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:
    Q9Y6H8-CXA3_HUMAN
    Recommended name:
    Gap junction alpha-3 protein
    Protein Accession:
    Q9Y6H8
    Secondary Accessions:
    • Q0VAB7
    • Q9H537

    Protein attributes for GJA3 Gene

    Size:
    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:
REFSEQ proteins:

No data available for DME Specific Peptides for GJA3 Gene

Domains & Families for GJA3 Gene

Gene Families for GJA3 Gene

Suggested Antigen Peptide Sequences for GJA3 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q9Y6H8

UniProtKB/Swiss-Prot:

CXA3_HUMAN :
  • Belongs to the connexin family. Alpha-type (group II) subfamily.
Family:
  • 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 --
GO:0005515 protein binding --
GO:0042802 identical protein binding IEA --
genes like me logo Genes that share ontologies with GJA3: view

Phenotypes for GJA3 Gene

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 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

COMPARTMENTS
Jensen Localization Image for GJA3 Gene COMPARTMENTS Subcellular localization image for GJA3 gene
Compartment Confidence
plasma membrane 5
extracellular 2
nucleus 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 --
GO:0045121 membrane raft IEA --
genes like me logo Genes that share ontologies with GJA3: view

Pathways & Interactions 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

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:0007154 cell communication --
GO:0007267 cell-cell signaling TAS 9413992
GO:0007601 visual perception TAS 10205266
GO:0009268 response to pH 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: IUPHAR, DGIdb, 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 Antagonist 0
octanol Pharma Inhibitor 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
LIPID
MP 26
genes like me logo Genes that share compounds with GJA3: view

Transcripts for GJA3 Gene

mRNA/cDNA for GJA3 Gene

(3) 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:

Inhibitory RNA Products

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

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
GJA3
ECgene alternative splicing isoforms for
GJA3

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 (x22.6), Heart - Atrial Appendage (x8.3), and Artery - Coronary (x4.2).

Integrated Proteomics: protein expression in normal tissues and cell lines 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 expression patterns with GJA3: view

Primer Products

In Situ Assay Products

No data available for Protein differential expression in normal tissues , mRNA Expression by UniProt/SwissProt and Protein tissue co-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
cow
(Bos Taurus)
Mammalia GJA3 35
  • 76.72 (n)
  • 70.07 (a)
GJA3 36
  • 71 (a)
OneToOne
dog
(Canis familiaris)
Mammalia GJA3 35
  • 79.58 (n)
  • 75.12 (a)
GJA3 36
  • 71 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Gja3 35
  • 78.24 (n)
  • 77.09 (a)
Gja3 16
Gja3 36
  • 74 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia GJA3 35
  • 99.39 (n)
  • 99.54 (a)
GJA3 36
  • 100 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Gja3 35
  • 78.44 (n)
  • 75.99 (a)
oppossum
(Monodelphis domestica)
Mammalia GJA3 36
  • 67 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia GJA3 36
  • 63 (a)
OneToOne
chicken
(Gallus gallus)
Aves GJA3 35
  • 63.88 (n)
  • 61.95 (a)
GJA3 36
  • 51 (a)
OneToOne
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
zebrafish
(Danio rerio)
Actinopterygii gja3 35
  • 65.31 (n)
  • 63.07 (a)
gja3 36
  • 59 (a)
OneToOne
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

ENSEMBL:
Gene Tree for GJA3 (if available)
TreeFam:
Gene Tree for GJA3 (if available)

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 Sequence Context AA Info Type MAF
VAR_009158 Cataract 14, multiple types (CTRCT14)
VAR_072763 Cataract 14, multiple types (CTRCT14)
VAR_072762 Cataract 14, multiple types (CTRCT14)
VAR_066719 Cataract 14, multiple types (CTRCT14)
VAR_066718 Cataract 14, multiple types (CTRCT14)

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

Variation tolerance for GJA3 Gene

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

Relevant External Links for GJA3 Gene

HapMap Linkage Disequilibrium report
GJA3
Human Gene Mutation Database (HGMD)
GJA3

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

Disorders for GJA3 Gene

MalaCards: The human disease database

(10) MalaCards diseases for GJA3 Gene - From: OMIM, ClinVar, GeneTests, Orphanet, Swiss-Prot, DISEASES, NovoSeek, and GeneCards

Disorder Aliases PubMed IDs
pulverulent cataract
  • dusty cataract
cataract 14, multiple types
  • cataract, zonular pulverulent-3
cataract 2, multiple types
  • cataract 2, multiple types, with or without microcornea
posterior polar cataract
  • cataract, posterior polar
non-syndromic congenital cataract
- elite association
Search GJA3 in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

CXA3_HUMAN
  • 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.

Relevant External Links for GJA3

Human Genome Epidemiology (HuGE) Navigator
GJA3
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
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. (Am. J. Hum. Genet. 1999) 2 23 67
  2. A novel human CRYGD mutation in a juvenile autosomal dominant cataract. (PMID: 20508808) Roshan M. … Satyamoorthy K. (Mol. Vis. 2010) 23 67
  3. 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. (Mol. Vis. 2010) 23 67
  4. Oxidative stress, lens gap junctions, and cataracts. (PMID: 18831679) Berthoud V.M. … Beyer E.C. (Antioxid. Redox Signal. 2009) 23 67
  5. A novel mutation in GJA8 associated with jellyfish-like cataract in a family of Indian origin. (PMID: 18334946) Vanita V. … Sperling K. (Mol. Vis. 2008) 23 67

Products for GJA3 Gene

Sources for GJA3 Gene

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