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Aliases for GJA8 Gene

Aliases for GJA8 Gene

  • Gap Junction Protein Alpha 8 2 3 5
  • Lens Fiber Protein MP70 3 4
  • Connexin 50 2 3
  • Connexin-50 3 4
  • CX50 3 4
  • Gap Junction Protein, Alpha 8, 50kDa (Connexin 50) 2
  • Gap Junction Protein, Alpha 8, 50kD (Connexin 50) 2
  • Gap Junction Membrane Channel Protein Alpha-8 3
  • Gap Junction Protein, Alpha 8, 50kDa 2
  • Lens Intrinsic Membrane Protein MP70 3
  • Gap Junction Protein Alpha 8 50kDa 3
  • Cell Surface Glycoprotein 3
  • Gap Junction Alpha 8 3
  • CTRCT1 3
  • MP70 3
  • CAE1 3
  • CZP1 3
  • CAE 3

External Ids for GJA8 Gene

Previous HGNC Symbols for GJA8 Gene

  • CAE1
  • CZP1
  • CAE

Previous GeneCards Identifiers for GJA8 Gene

  • GC01P145594
  • GC01P144100
  • GC01P144718
  • GC01P144882
  • GC01P144599
  • GC01P145841
  • GC01P147374
  • GC01P120788

Summaries for GJA8 Gene

Entrez Gene Summary for GJA8 Gene

  • This gene encodes a transmembrane connexin protein that is necessary for lens growth and maturation of lens fiber cells. The encoded protein is a component of gap junction channels and functions in a calcium and pH-dependent manner. Mutations in this gene have been associated with zonular pulverulent cataracts, nuclear progressive cataracts, and cataract-microcornea syndrome. [provided by RefSeq, Dec 2009]

GeneCards Summary for GJA8 Gene

GJA8 (Gap Junction Protein Alpha 8) is a Protein Coding gene. Diseases associated with GJA8 include cataract 1, multiple types and cataract microcornea syndrome. Among its related pathways are Development Slit-Robo signaling and Signaling in Gap Junctions. GO annotations related to this gene include channel activity and gap junction channel activity. An important paralog of this gene is GJC2.

UniProtKB/Swiss-Prot for GJA8 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 GJA8 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 GJA8 Gene

No data available for PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for GJA8 Gene

Genomics for GJA8 Gene

Regulatory Elements for GJA8 Gene

Genomic Location for GJA8 Gene

Chromosome:
1
Start:
147,902,820 bp from pter
End:
147,915,287 bp from pter
Size:
12,468 bases
Orientation:
Plus strand

Genomic View for GJA8 Gene

Genes around GJA8 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
GJA8 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for GJA8 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for GJA8 Gene

Proteins for GJA8 Gene

  • Protein details for GJA8 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P48165-CXA8_HUMAN
    Recommended name:
    Gap junction alpha-8 protein
    Protein Accession:
    P48165
    Secondary Accessions:
    • A7L5M5
    • Q5VVN9
    • Q9NP25

    Protein attributes for GJA8 Gene

    Size:
    433 amino acids
    Molecular mass:
    48229 Da
    Quaternary structure:
    • A connexon is composed of a hexamer of connexins. This particular connexin only forms junctional channels.

neXtProt entry for GJA8 Gene

Proteomics data for GJA8 Gene at MOPED

Post-translational modifications for GJA8 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for GJA8 Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for GJA8 Gene

Domains & Families for GJA8 Gene

Gene Families for GJA8 Gene

Suggested Antigen Peptide Sequences for GJA8 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

P48165

UniProtKB/Swiss-Prot:

CXA8_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 GJA8: view

Function for GJA8 Gene

Molecular function for GJA8 Gene

GENATLAS Biochemistry:
gap junction protein alpha 8,50kDa,connexin 50 (MP70),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.
genes like me logo Genes that share phenotypes with GJA8: view

Human Phenotype Ontology for GJA8 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for GJA8 Gene

MGI Knock Outs for GJA8:

Animal Model Products

  • Taconic Biosciences Mouse Models for GJA8

miRNA for GJA8 Gene

miRTarBase miRNAs that target GJA8

No data available for Enzyme Numbers (IUBMB) , Gene Ontology (GO) - Molecular Function , Transcription Factor Targets and HOMER Transcription for GJA8 Gene

Localization for GJA8 Gene

Subcellular locations from UniProtKB/Swiss-Prot for GJA8 Gene

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

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for GJA8 Gene COMPARTMENTS Subcellular localization image for GJA8 gene
Compartment Confidence
plasma membrane 4
nucleus 1

No data available for Gene Ontology (GO) - Cellular Components for GJA8 Gene

Pathways & Interactions for GJA8 Gene

genes like me logo Genes that share pathways with GJA8: view

Pathways by source for GJA8 Gene

1 GeneGo (Thomson Reuters) pathway for GJA8 Gene
1 Qiagen pathway for GJA8 Gene

Interacting Proteins for GJA8 Gene

Selected Interacting proteins: P48165-CXA8_HUMAN for GJA8 Gene via I2D

Gene Ontology (GO) - Biological Process for GJA8 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006810 transport TAS 7796604
GO:0007154 cell communication IEA --
GO:0007267 cell-cell signaling IEA --
GO:0007601 visual perception TAS 9497259
genes like me logo Genes that share ontologies with GJA8: view

No data available for SIGNOR curated interactions for GJA8 Gene

Drugs & Compounds for GJA8 Gene

(12) Drugs for GJA8 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 Activates TRPC6; NSAID 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 GJA8 Gene - From: Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs

(5) Tocris Compounds for GJA8 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 GJA8: view

Transcripts for GJA8 Gene

mRNA/cDNA for GJA8 Gene

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

Unigene Clusters for GJA8 Gene

Gap junction protein, alpha 8, 50kDa:
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for GJA8 Gene

No ASD Table

Relevant External Links for GJA8 Gene

GeneLoc Exon Structure for
GJA8
ECgene alternative splicing isoforms for
GJA8

Expression for GJA8 Gene

mRNA expression in normal human tissues for GJA8 Gene

mRNA differential expression in normal tissues according to GTEx for GJA8 Gene

This gene is overexpressed in Testis (x51.1).

Protein differential expression in normal tissues from HIPED for GJA8 Gene

This gene is overexpressed in Pancreas (42.9), Fetal ovary (15.3), and Blymphocyte (10.8).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for GJA8 Gene



SOURCE GeneReport for Unigene cluster for GJA8 Gene Hs.632441

mRNA Expression by UniProt/SwissProt for GJA8 Gene

P48165-CXA8_HUMAN
Tissue specificity: Eye lens.
genes like me logo Genes that share expression patterns with GJA8: view

Protein tissue co-expression partners for GJA8 Gene

Primer Products

In Situ Assay Products

Orthologs for GJA8 Gene

This gene was present in the common ancestor of chordates.

Orthologs for GJA8 Gene

Organism Taxonomy Gene Similarity Type Details
cow
(Bos Taurus)
Mammalia GJA8 35
  • 86.68 (n)
  • 86.61 (a)
GJA8 36
  • 86 (a)
OneToOne
dog
(Canis familiaris)
Mammalia GJA8 35
  • 88.43 (n)
  • 89.12 (a)
GJA8 36
  • 88 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Gja8 35
  • 85.6 (n)
  • 88.68 (a)
Gja8 16
Gja8 36
  • 87 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia GJA8 35
  • 99.62 (n)
  • 99.31 (a)
GJA8 36
  • 99 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Gja8 35
  • 86.07 (n)
  • 88.22 (a)
oppossum
(Monodelphis domestica)
Mammalia GJA8 36
  • 85 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia GJA8 36
  • 85 (a)
OneToOne
chicken
(Gallus gallus)
Aves GJA8 35
  • 73.16 (n)
  • 76.71 (a)
GJA8 36
  • 73 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia GJA8 36
  • 68 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia gja8 35
  • 65 (n)
  • 68.17 (a)
African clawed frog
(Xenopus laevis)
Amphibia Xl.23631 35
zebrafish
(Danio rerio)
Actinopterygii cx44.1 35
  • 70.61 (n)
  • 73.68 (a)
cx44.1 36
  • 69 (a)
OneToMany
cx50.5 36
  • 38 (a)
OneToMany
Species with no ortholog for GJA8:
  • 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)
  • 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 GJA8 Gene

ENSEMBL:
Gene Tree for GJA8 (if available)
TreeFam:
Gene Tree for GJA8 (if available)

Paralogs for GJA8 Gene

Paralogs for GJA8 Gene

(16) SIMAP similar genes for GJA8 Gene using alignment to 1 proteins:

genes like me logo Genes that share paralogs with GJA8: view

Variants for GJA8 Gene

Sequence variations from dbSNP and Humsavar for GJA8 Gene

SNP ID Clin Chr 01 pos Sequence Context AA Info Type
VAR_002005 Cataract 1, multiple types (CTRCT1)
VAR_037642 Cataract 1, multiple types (CTRCT1)
VAR_038797 Cataract 1, multiple types (CTRCT1)
VAR_038798 Cataract 1, multiple types (CTRCT1)
VAR_038799 Cataract 1, multiple types (CTRCT1)

Structural Variations from Database of Genomic Variants (DGV) for GJA8 Gene

Variant ID Type Subtype PubMed ID
nsv7181 OTHER Inversion 18451855
nsv872266 CNV Gain 21882294
nsv463517 CNV Gain 19166990
nsv831437 CNV Loss 17160897

Variation tolerance for GJA8 Gene

Residual Variation Intolerance Score: 34.8% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 1.05; 21.53% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for GJA8 Gene

HapMap Linkage Disequilibrium report
GJA8
Human Gene Mutation Database (HGMD)
GJA8

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for GJA8 Gene

Disorders for GJA8 Gene

MalaCards: The human disease database

(11) MalaCards diseases for GJA8 Gene - From: OMIM, ClinVar, GeneTests, Orphanet, Swiss-Prot, DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
cataract 1, multiple types
  • zonular pulverulent cataract 1
cataract microcornea syndrome
  • microcornea cataract syndrome
early-onset sutural cataract
  • early-onset cataract with y-shaped suture opacities
total early-onset cataract
early-onset nuclear cataract
- elite association - COSMIC cancer census association via MalaCards
Search GJA8 in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

CXA8_HUMAN
  • Cataract 1, multiple types (CTRCT1) [MIM:116200]: 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. CTRCT1 includes congenital, zonular pulverulent, nuclear progressive, nuclear pulverulent, nuclear total, total, and posterior subcapsular types of cataract. 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. Zonular cataracts generally do not involve the embryonic nucleus, though sometimes they involve the fetal nucleus. Usually sharply separated from a clear cortex outside them, they may have projections from their outer edges known as riders or spokes. In some cases cataract is associated with microcornea without any other systemic anomaly or dysmorphism. Microcornea is defined by a corneal diameter inferior to 10 mm in both meridians in an otherwise normal eye. {ECO:0000269 PubMed:10480374, ECO:0000269 PubMed:11846744, ECO:0000269 PubMed:14627691, ECO:0000269 PubMed:16234473, ECO:0000269 PubMed:16604058, ECO:0000269 PubMed:18006672, ECO:0000269 PubMed:21174522, ECO:0000269 PubMed:21921990, ECO:0000269 PubMed:23508780, ECO:0000269 PubMed:9497259, ECO:0000269 Ref.4}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Relevant External Links for GJA8

Genetic Association Database (GAD)
GJA8
Human Genome Epidemiology (HuGE) Navigator
GJA8
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
GJA8
genes like me logo Genes that share disorders with GJA8: view

No data available for Genatlas for GJA8 Gene

Publications for GJA8 Gene

  1. The human lens intrinsic membrane protein MP70 (Cx50) gene: clonal analysis and chromosome mapping. (PMID: 7796604) Church R.L. … Steele E. (Curr. Eye Res. 1995) 2 3 4 23 67
  2. A missense mutation in the human connexin50 gene (GJA8) underlies autosomal dominant 'zonular pulverulent' cataract, on chromosome 1q. (PMID: 9497259) Shiels A. … Bhattacharya S. (Am. J. Hum. Genet. 1998) 2 3 23
  3. A mutant connexin50 with enhanced hemichannel function leads to cell death. (PMID: 19684000) Minogue P.J. … Berthoud V.M. (Invest. Ophthalmol. Vis. Sci. 2009) 3 23
  4. The GJA8 allele encoding CX50I247M is a rare polymorphism, not a cataract-causing mutation. (PMID: 19756179) Graw J. … Beyer E.C. (Mol. Vis. 2009) 3 23
  5. A novel GJA8 mutation (p.I31T) causing autosomal dominant congenital cataract in a Chinese family. (PMID: 20019893) Wang K. … Zhu S. (Mol. Vis. 2009) 3 23

Products for GJA8 Gene

Sources for GJA8 Gene

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