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Category   Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21
GIFtS

GJA8 Gene

protein-coding   GIFtS: 62
GCID: GC01P147374

Gap Junction Protein, Alpha 8, 50kDa

(Previous names: gap junction protein, alpha 8, 50kD (connexin 50), gap junction...)
(Previous symbols: CAE1, CZP1, CAE)
  See related diseases
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
About This Section

Aliases
Gap Junction Protein, Alpha 8, 50kDa1 2     CTRCT12
CAE11 2 5     MP702
CAE1 2     Cell Surface Glycoprotein2
CZP11 2     connexin-502
Connexin 501 2     Gap Junction Alpha-8 Protein2
Lens Fiber Protein MP702 3     Gap Junction Membrane Channel Protein Alpha-82
CX502 5     Lens Intrinsic Membrane Protein MP702
Gap Junction Protein, Alpha 8, 50kD (Connexin 50)1     Connexin-503
Gap Junction Protein, Alpha 8, 50kDa (Connexin 50)1     Cx503

External Ids:    HGNC: 42811   Entrez Gene: 27032   Ensembl: ENSG000001216347   OMIM: 6008975   UniProtKB: P481653   

Export aliases for GJA8 gene to outside databases

Previous GC identifers: GC01P145594 GC01P144100 GC01P144718 GC01P144882 GC01P144599 GC01P145841 GC01P120788


(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

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, 50kDa) is a protein-coding gene. Diseases associated with GJA8 include cataract microcornea syndrome, and zonular pulverulent cataract 1, and among its related super-pathways are Gap junction assembly and Cell adhesion Gap junctions. GO annotations related to this gene include channel activity. An important paralog of this gene is GJB3.

UniProtKB/Swiss-Prot: CXA8_HUMAN, P48165
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

summary for GJA8 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 GJA8 Gene


(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 73), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000001.10  NC_018912.2  NT_167185.1  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the GJA8 gene promoter:
         Max1   ER-alpha   USF1   RREB-1   Max   PPAR-gamma1   USF-1   PPAR-gamma2   Pax-4a   c-Myc   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidGJA8 promoter sequence
   Search SABiosciences Chromatin IP Primers for GJA8

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat GJA8


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 1q21.1   Ensembl cytogenetic band:  1q21.2   HGNC cytogenetic band: 1q21.1

GJA8 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
GJA8 gene location

GeneLoc information about chromosome 1         GeneLoc Exon Structure

GeneLoc location for GC01P147374:  view genomic region     (about GC identifiers)

Start:
147,374,946 bp from pter      End:
147,381,396 bp from pter
Size:
6,451 bases      Orientation:
plus strand

(According to UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MAXQB RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Ontologies according to Gene Ontology Consortium 01 Oct 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
About This Section

UniProtKB/Swiss-Prot: CXA8_HUMAN, P48165 (See protein sequence)
Recommended Name: Gap junction alpha-8 protein  
Size: 433 amino acids; 48229 Da
Subunit: A connexon is composed of a hexamer of connexins. This particular connexin only forms junctional channels
Subcellular location: Cell membrane; Multi-pass membrane protein. Cell junction, gap junction
Secondary accessions: A7L5M5 Q5VVN9 Q9NP25

Explore the universe of human proteins at neXtProt for GJA8: NX_P48165

Explore proteomics data for GJA8 at MOPED 

Post-translational modifications:

  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_P48165

  • GJA8 Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    GJA8 Protein Expression
    REFSEQ proteins: NP_005258.2  
    ENSEMBL proteins: 
     ENSP00000358238   ENSP00000240986  
    Reactome Protein details: P48165
    Human Recombinant Protein Products for GJA8: 
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    Browse Sino Biological Cell Lysates 
    Browse ProSpec Recombinant Proteins
    Browse Proteins at Cloud-Clone Corp. 

    Gene Ontology (GO): 4 cellular component terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005886plasma membrane ----
    GO:0005887integral to plasma membrane TAS7796604
    GO:0005922connexon complex IEA--
    GO:0016021integral to membrane ----

    GJA8 for ontologies           About GeneDecksing



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    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    HGNC Gene Families: 
    GJ: Ion channels / Gap junction proteins (connexins)

    IUPHAR Guide to PHARMACOLOGY protein family classification: Cx50 
    Connexins and Pannexins

    5 InterPro protein domains:
     IPR000500 Connexin
     IPR019570 Connexin_CCC
     IPR013092 Connexin_N
     IPR002266 Connexin50
     IPR017990 Connexin_CS

    Graphical View of Domain Structure for InterPro Entry P48165

    ProtoNet protein and cluster: P48165

    2 Blocks protein domains:
    IPB002266 Gap junction alpha-8 protein (Cx50) signature
    IPB013092 Connexin


    UniProtKB/Swiss-Prot: CXA8_HUMAN, P48165
    Similarity: Belongs to the connexin family. Alpha-type (group II) subfamily


    GJA8 for domains           About GeneDecksing


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
    bound targets from SABiosciences, miRNA Gene Targets from miRTarBase, shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Sirion Biotech, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, Vector BioLabs, and Sirion Biotech, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene.)
    About This Section

    Molecular Function:

         UniProtKB/Swiss-Prot Summary: CXA8_HUMAN, P48165
    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 entry for GJA8:
    gap junction protein alpha 8,50kDa,connexin 50 (MP70),expressed in lens,monomer of the connexon (six subunits
    including GJA3,GJA8,GJB1,GJB2)

         Gene Ontology (GO): 2 molecular function terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005515protein binding ----
    GO:0015267channel activity TAS7796604
         
    GJA8 for ontologies           About GeneDecksing


    Phenotypes:
         4 GenomeRNAi human phenotypes for GJA8:
     Decreased NANOG protein expres  Decreased OCT4 protein express  Decreased POU5F1-GFP protein e  Increased cell number in G2M,  

         1 MGI mutant phenotype (inferred from 9 alleles(MGI details for Gja8):
     vision/eye 

    GJA8 for phenotypes           About GeneDecksing

    Animal Models:
         MGI mouse knock-outs for GJA8: Gja8tm1Rtm Gja8tm1Paul

       inGenious Targeting Laboratory - Custom generated mouse model solutions for GJA8 
       inGenious Targeting Laboratory - Custom generated inducible mouse model solutions for GJA8

       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for GJA8 
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for GJA8


    (Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene).
    About This Section

    SuperPaths for GJA8 About   (see all 7)                                                                                              See pathways by source

    SuperPathContained pathways About
    1Gap junction trafficking
    Gap junction trafficking0.74
    Gap junction trafficking and regulation0.70
    Gap junction assembly0.74
    2Cell adhesion Gap junctions
    Cell adhesion Gap junctions0.89
    3Calcium Regulation in the Cardiac Cell
    Calcium Regulation in the Cardiac Cell0.43
    4Membrane Trafficking
    Membrane Trafficking0.32
    5Signaling in Gap Junctions
    Signaling in Gap Junctions0.31

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways

    3 EMD Millipore Pathways for GJA8
        Potassium transporters- inward current
    Cell adhesion Gap junctions
    Sodium channels and transporters- inward current

    1 Downloadable PowerPoint Slide of QIAGEN Pathway Central Maps for GJA8
        Signaling in Gap Junctions

    1 GeneGo (Thomson Reuters) Pathway for GJA8
        Cell adhesion Gap junctions

    1 BioSystems Pathway for GJA8
        Calcium Regulation in the Cardiac Cell

    4        Reactome Pathways for GJA8
        Gap junction assembly
    Gap junction trafficking
    Membrane Trafficking
    Gap junction trafficking and regulation



    GJA8 for pathways           About GeneDecksing

    Interactions:

        Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for GJA8

    STRING Interaction Network Preview (showing 5 interactants - click image to see 21)

    5/22 Interacting proteins for GJA8 (P481653 ENSP000002409864) via UniProtKB, MINT, STRING, and/or I2D (see all 22)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    TJP1Q071573, ENSP000002815374I2D: score=2 STRING: ENSP00000281537
    MIPP303013, ENSP000002579794I2D: score=1 STRING: ENSP00000257979
    MED14O602443I2D: score=1 
    GJA1ENSP000002825614STRING: ENSP00000282561
    GJB1ENSP000003549004STRING: ENSP00000354900
    About this table

    Gene Ontology (GO): 5/7 biological process terms (GO ID links to tree view) (see all 7):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0002088lens development in camera-type eye IEA--
    GO:0006810transport TAS7796604
    GO:0007154cell communication ----
    GO:0007267cell-cell signaling IEA--
    GO:0007601visual perception TAS9497259

    GJA8 for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
    About This Section

    GJA8 for compounds           About GeneDecksing

    Browse Small Molecules at EMD Millipore
    Browse drugs & compounds from Enzo Life Sciences

    Compounds for GJA8 available from Tocris Bioscience    About this table
    CompoundAction CAS #
    Gap 27Selective gap junction blocker[198284-64-9]
    Scrambled 10Panx Scrambled version of 10Panx (Cat. No. 3348), Panx-1 mimetic inhibitory peptide [1315378-72-3]
    Carbenoxolone disodiumGap junction blocker. Also inhibitor of 11 beta-hydroxysteroid dehydrogenase[7421-40-1]
    10PanxPanx-1 mimetic inhibitory peptide; blocks pannexin-1 gap junctions[955091-53-9]

    4 IUPHAR Ligands for GJA8 (Cx50)    About this table 
    LigandTypeActionAffinityPubmed IDs
    flufenamic acid
    InhibitorNone--
    octanol
    InhibitorNone--
    Ca2+
    InhibitorNone--
    carbenoxolone
    InhibitorNone--

    4 Novoseek inferred chemical compound relationships for GJA8 gene    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    isofenphos 84.6 1 10771584 (1)
    valine 33.7 4 15696487 (1), 19684000 (1)
    serine 26.1 3 18334946 (1), 20021880 (1)
    proline 25.4 2 18587493 (1)

    Search CenterWatch for drugs/clinical trials and news about GJA8 / CXA8

    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    Conferences by KenesGroup, exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    RNAi Products from EMD Millipore,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
    Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Sirion Biotech, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section

    REFSEQ mRNAs for GJA8 gene: 
    NM_005267.4  

    Unigene Cluster for GJA8:

    Gap junction protein, alpha 8, 50kDa
    Hs.632441  [show with all ESTs]
    Unigene Representative Sequence: NM_005267
    2 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000369235(uc021ovm.1) ENST00000240986(uc001epu.2)
    miRNA
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    1 DOTS entry:

    DT.75155909 

    7 AceView cDNA sequences:

    BQ184886 CD674975 NM_005267 BI459282 BI459278 AI364417 BI463681 

    GeneLoc Exon Structure


    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

    GJA8 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: TTGTCTGTGG
    GJA8 Expression
    About this image


    See GJA8 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for GJA8

    SOURCE GeneReport for Unigene cluster: Hs.632441

    UniProtKB/Swiss-Prot: CXA8_HUMAN, P48165
    Tissue specificity: Eye lens

        SABiosciences Expression via Pathway-Focused PCR Arrays including GJA8: 
              Cell Junction PathwayFinder in human mouse rat
              Gap Junctions in human mouse rat

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    In Situ
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for GJA8

    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
    About This Section

    This gene was present in the common ancestor of chordates.

    Orthologs for GJA8 gene from 5/10 species (see all 10)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Gja81 , 5 gap junction protein, alpha 81, 5 85.6(n)1
    88.68(a)1
      3 (42.03 cM)5
    146161  NM_008123.21  NP_032149.11 
     969190225 
    chicken
    (Gallus gallus)
    Aves GJA81 gap junction protein, alpha 8, 50kDa 72.61(n)
    75.88(a)
      395846  NM_204997.1  NP_990328.1 
    lizard
    (Anolis carolinensis)
    Reptilia GJA86
    Gap junction protein
    68(a)
    1 ↔ 1
    3(161995199-161996428)
    African clawed frog
    (Xenopus laevis)
    Amphibia Xl.236312 Xenopus laevis, clone IMAGE5542071, mRNA 75.66(n)    BC046682.1 
    zebrafish
    (Danio rerio)
    Actinopterygii cx44.11 connexin 44.1 70.61(n)
    73.68(a)
      114403  NM_131809.2  NP_571884.2 


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

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for GJA8 gene
    GJB32  GJA102  GJB62  GJB42  GJB22  GJB72  GJA42  GJB52  
    GJA12  GJC12  GJC22  GJA52  GJD22  GJA32  GJA92  GJB12  
    16 SIMAP similar genes for GJA8 using alignment to 1 protein entry:     CXA8_HUMAN:
    GJA5    GJA1    GJA4    GJB2    GJB5    GJD3
    GJB6    GJC1    GJB4    GJA9    GJB3    GJB7
    GJB1    GJD2    GJA10    GJA3

    GJA8 for paralogs           About GeneDecksing



    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
    About This Section

    10/263 SNPs in GJA8 are shown (see all 263)    About this table     
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 1 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    VAR_0020054
    Cataract 1, multiple types (CTRCT1)4--see VAR_0020052 P S mis40--------
    VAR_0695794
    Cataract 1, multiple types (CTRCT1)4--see VAR_0695792 D N mis40--------
    VAR_0376424
    Cataract 1, multiple types (CTRCT1)4--see VAR_0376422 V G mis40--------
    VAR_0387984
    Cataract 1, multiple types (CTRCT1)4--see VAR_0387982 V E mis40--------
    VAR_0387994
    Cataract 1, multiple types (CTRCT1)4--see VAR_0387992 E K mis40--------
    VAR_0387974
    Cataract 1, multiple types (CTRCT1)4--see VAR_0387972 R T mis40--------
    VAR_0388004
    Cataract 1, multiple types (CTRCT1)4--see VAR_0388002 R Q mis40--------
    rs803582021,2,4
    C,FCataract 1, multiple types (CTRCT1)4 pathogenic1154382153(+) GAGATT/GCCTGA 2 /M /I mis12Minor allele frequency- G:0.00NA EU 5833
    rs803582031,2
    Cpathogenic1154381480(+) CGGCAC/GAGTCT 2 T R mis10--------
    rs803582041,2
    Cpathogenic1154381543(+) GTTCGA/TGTGGG 2 E V mis10--------

    HapMap Linkage Disequilibrium report for GJA8 (147374946 - 147381396 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 4 variations for GJA8:    About this table     
    Variant IDTypeSubtypePubMed ID
    nsv831437CNV Loss17160897
    nsv463517CNV Gain19166990
    nsv872266CNV Gain21882294
    nsv7181OTHER Inversion18451855


    Human Gene Mutation Database (HGMD): GJA8

    Locus Specific Mutation Databases (LSDB): GJA8
    SABiosciences Cancer Mutation PCR Assays
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    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section
    OMIM gene information: 600897   
    OMIM disorders: 116200  116150  
    UniProtKB/Swiss-Prot: CXA8_HUMAN, P48165
  • 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. Note=The disease is caused by mutations affecting the gene represented in this entry

  • 20/22 diseases for GJA8 (see all 22):    About MalaCards
    cataract microcornea syndrome    zonular pulverulent cataract 1    cataract    cataract, zonular
    cataracts, autosomal dominant    peripheral neuropathy    senile cataract    peters anomaly
    juvenile myoclonic epilepsy    cervical adenocarcinoma    coloboma    neuropathy
    myopia    sjogren's syndrome    microphthalmia    pheochromocytoma
    neuronitis    cystic fibrosis    schizophrenia    cervicitis

    2 diseases from the University of Copenhagen DISEASES database for GJA8:
    Senile cataract     Microphthalmia

    GJA8 for disorders           About GeneDecksing

    6 Novoseek inferred disease relationships for GJA8 gene    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    pulverulent zonular cataract 94.9 3 9497259 (1), 11846744 (1), 10480374 (1)
    cataract, autosomal dominant 85.4 1 17601931 (1)
    congenital cataract 83.8 5 17110920 (2), 18334946 (1), 20019893 (1)
    cataract 70.6 28 11875045 (4), 18587493 (2), 16397066 (2), 17601931 (2) (see all 14)
    nuclear cataract 65.4 2 18334966 (1), 20021880 (1)
    tumors 3.69 4 1311984 (2), 8078803 (2)

    Genetic Association Database (GAD): GJA8
    Human Genome Epidemiology (HuGE) Navigator: GJA8 (4 documents)

    Export disorders for GJA8 gene to outside databases

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
    About This Section

    PubMed articles for GJA8 gene, integrated from 9 sources (see all 87):
    (articles sorted by number of sources associating them with GJA8)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. The human lens intrinsic membrane protein MP70 (Cx50) gene: clonal analysis and chromosome mapping. (PubMed id 7796604)1, 2, 3, 9 Church R.L.... Steele E. (1995)
    2. A missense mutation in the human connexin50 gene (GJA8) underlies autosomal dominant 'zonular pulverulent' cataract, on chromosome 1q. (PubMed id 9497259)1, 2, 3, 9 Shiels A.... Bhattacharya S. (1998)
    3. A novel connexin 50 (GJA8) mutation in a Chinese family with a dominant congenital pulverulent nuclear cataract. (PubMed id 18334966)1, 4, 9 Yan M....Zhou X. (2008)
    4. Connexin 50 gene on human chromosome 1q21 is associated with schizophrenia in matched case control and family-based studies. (PubMed id 17412882)1, 4, 9 Ni X....Kennedy J.L. (2007)
    5. A novel connexin50 mutation associated with congenital nuclear pulverulent cataracts. (PubMed id 18006672)1, 2, 9 Arora A....Moore A.T. (2008)
    6. The human lens intrinsic membrane protein MP70 (Cx50) gene: clonal analysis and chromosome mapping. (PubMed id 8549164)1, 2, 9 Church R.L....Steele E. (1995)
    7. Genetic linkage analyses and Cx50 mutation detection in a large multiplex Chinese family with hereditary nuclear cataract. (PubMed id 21174522)1, 2 He W....Lu S. (2011)
    8. Another evidence for a D47N mutation in GJA8 associat ed with autosomal dominant congenital cataract. (PubMed id 21921990)1, 2 Wang L....Lu Y. (2011)
    9. Novel mutations in GJA8 associated with autosomal dominant congenital cataract and microcornea. (PubMed id 16604058)1, 2 Devi R.R. and Vijayalakshmi P. (2006)
    10. Functional role of the carboxyl terminal domain of human connexin 50 in gap junctional channels. (PubMed id 11944087)1, 9 Xu X....Ebihara L. (2002)

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     ANDOR
    Aliases
    Disorders
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      Query String
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    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section
    Entrez Gene: 2703 HGNC: 4281 AceView: GJA8 Ensembl:ENSG00000121634 euGenes: HUgn2703
    ECgene: GJA8 H-InvDB: GJA8

    (According to HUGE)
    About This Section
      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
    Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
    About This Section
    NameDescription
    PharmGKB entry for GJA8 Pharmacogenomics, SNPs, Pathways
    GeneReviewshttp://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/GJA8

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section
    Patent Information for GJA8 gene:
    Search GeneIP for patents involving GJA8

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



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