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GJA5 Gene

protein-coding   GIFtS: 65
GCID: GC01M147228

Gap Junction Protein, Alpha 5, 40kDa

(Previous names: gap junction protein, alpha 5, 40kD (connexin 40), gap junction...)
  See GJA5-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)
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Aliases
Gap Junction Protein, Alpha 5, 40kDa1 2     Gap Junction Protein, Alpha 5, 40kDa (Connexin 40)1
Connexin 401 2     Gap Junction Alpha-5 Protein2
ATFB112 5     Connexin-403
CX402 5     Cx403
Gap Junction Protein, Alpha 5, 40kD (Connexin 40)1     

External Ids:    HGNC: 42791   Entrez Gene: 27022   Ensembl: ENSG000001431407   OMIM: 1210135   UniProtKB: P363823   

Export aliases for GJA5 gene to outside databases

Previous GC identifers: GC01M145445 GC01M143955 GC01M144573 GC01M144735 GC01M144453 GC01M145695 GC01M120641


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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Entrez Gene summary for GJA5 Gene:
This gene is a member of the connexin gene family. The encoded protein is a component of gap junctions, which are
composed of arrays of intercellular channels that provide a route for the diffusion of low molecular weight
materials from cell to cell. Mutations in this gene may be associated with atrial fibrillation. Alternatively
spliced transcript variants encoding the same isoform have been described. (provided by RefSeq, Jul 2008)

GeneCards Summary for GJA5 Gene:
GJA5 (gap junction protein, alpha 5, 40kDa) is a protein-coding gene. Diseases associated with GJA5 include gja5-related familial atrial fibrillation, and atrial standstill, digenic. GO annotations related to this gene include gap junction channel activity involved in AV node cell-bundle of His cell electrical coupling and gap junction hemi-channel activity. An important paralog of this gene is GJB3.

UniProtKB/Swiss-Prot: CXA5_HUMAN, P36382
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 GJA5 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 GJA5 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 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence at NCBI GenBank:
NC_000001.10  NT_004487.20  NC_018912.2  
Regulatory elements:
   Regulatory transcription factor binding sites in the GJA5 gene promoter:
         Brachyury   STAT5A   NF-AT   Arnt   NF-AT4   PPAR-gamma1   NF-AT2   NF-AT3   PPAR-gamma2   NF-AT1   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidGJA5 promoter sequence
   Search Chromatin IP Primers for GJA5

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat GJA5


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

GJA5 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
GJA5 gene location

GeneLoc information about chromosome 1         GeneLoc Exon Structure

GeneLoc location for GC01M147228:  view genomic region     (about GC identifiers)

Start:
147,228,332 bp from pter      End:
147,245,484 bp from pter
Size:
17,153 bases      Orientation:
minus strand

(According to 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, 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, Cloud-Clone Corp., eBioscience, and/or antibodies-online,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, Cloud-Clone Corp., eBioscience, and/or antibodies-online, Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, Cloud-Clone Corp, antibodies-online, and/or others.)
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UniProtKB/Swiss-Prot: CXA5_HUMAN, P36382 (See protein sequence)
Recommended Name: Gap junction alpha-5 protein  
Size: 358 amino acids; 40380 Da
Subunit: A connexon is composed of a hexamer of connexins
Secondary accessions: Q5T3B6 Q5U0N6

Explore the universe of human proteins at neXtProt for GJA5: NX_P36382

Explore proteomics data for GJA5 at MOPED

Post-translational modifications: 

  • Modification sites at neXtProt
  • Modification sites at PhosphoSitePlus

  • See GJA5 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins (2 alternative transcripts): 
    NP_005257.2  NP_859054.1  

    ENSEMBL proteins: 
     ENSP00000358240   ENSP00000407645   ENSP00000271348  
    Reactome Protein details: P36382

    GJA5 Human Recombinant Protein Products:

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    Browse ProSpec Recombinant Proteins
    Browse Proteins at Cloud-Clone Corp.

     
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    antibodies-online peptides for GJA5

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    antibodies-online antibodies for GJA5 (44 products) 

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

    IUPHAR Guide to PHARMACOLOGY protein family classification: Cx40
    Connexins and Pannexins

    5 InterPro protein domains:
     IPR000500 Connexin
     IPR019570 Connexin_CCC
     IPR013092 Connexin_N
     IPR002264 Connexin40
     IPR017990 Connexin_CS

    Graphical View of Domain Structure for InterPro Entry P36382

    ProtoNet protein and cluster: P36382

    2 Blocks protein domains:
    IPB002264 Gap junction alpha-5 protein (Cx40) signature
    IPB013092 Connexin


    UniProtKB/Swiss-Prot: CXA5_HUMAN, P36382
    Similarity: Belongs to the connexin family. Alpha-type (group II) subfamily


    Find genes that share domains with GJA5           About GenesLikeMe


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, genOway,
    transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, Vector BioLabs and/or Addgene, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Flow cytometry from eBioscience, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Molecular Function:

         UniProtKB/Swiss-Prot Summary: CXA5_HUMAN, P36382
    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 GJA5:
    gap junction protein,alpha 5,40kDa (connexin 40),expressed in heart,left ventricule,monomer of the connexon (six
    subunits)

         Gene Ontology (GO): 5 molecular function terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005243gap junction channel activity ----
    GO:0055077gap junction hemi-channel activity IDA--
    GO:0071253connexin binding IEA--
    GO:0086075gap junction channel activity involved in cardiac conduction electrical coupling IMP16790700
    GO:0086077gap junction channel activity involved in AV node cell-bundle of His cell electrical coupling IDA--
         
    Find genes that share ontologies with GJA5           About GenesLikeMe


    Phenotypes:
         1 GenomeRNAi human phenotype for GJA5:
     Decreased focal adhesion (FA)  

         12 MGI mutant phenotypes (inferred from 8 alleles(MGI details for Gja5):
     cardiovascular system  digestive/alimentary  endocrine/exocrine gland  hematopoietic system  homeostasis/metabolism 
     immune system  mortality/aging  muscle  no phenotypic analysis  normal 
     reproductive system  respiratory system 

    Find genes that share phenotypes with GJA5           About GenesLikeMe

    Animal Models:
         MGI mouse knock-outs for GJA5: Gja5tm1Paul Gja5tm1Kwi

       genOway: Develop your customized and physiologically relevant rodent model for GJA5

    miRNA
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    miRTarBase miRNAs that target GJA5:
    hsa-mir-26b-5p (MIRT028999)

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    Selected qRT-PCR Assays for microRNAs that regulate GJA5 (see all 18):
    hsa-miR-485-5p hsa-miR-513a-5p hsa-miR-1224-3p hsa-miR-4263 hsa-miR-1271 hsa-miR-1260b hsa-miR-181a-2* hsa-miR-199b-5p
    SwitchGear 3'UTR luciferase reporter plasmidGJA5 3' UTR sequence
    Inhib. RNA
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    (According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Subcellular locations from UniProtKB/Swiss-Prot
    CXA5_HUMAN, P36382: Cell membrane; Multi-pass membrane protein. Cell junction, gap junction
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    plasma membrane5
    cytoskeleton1
    extracellular1

    Gene Ontology (GO): 5 cellular component terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005887integral component of plasma membrane IDA--
    GO:0005921gap junction IDA--
    GO:0005922connexon complex IDA--
    GO:0014704intercalated disc TAS--
    GO:0042995cell projection IEA--

    Find genes that share ontologies with GJA5           About GenesLikeMe


    (SuperPaths according to PathCards, Pathways according to 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 QIAGEN, 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 Apr 2014 via Entrez Gene).
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    SuperPaths for GJA5 About   (see all 7)  
    See pathways by source

    SuperPathContained pathways About
    1Gap junction trafficking
    Gap junction trafficking0.93
    Gap junction assembly0.00
    Gap junction trafficking and regulation0.93
    2Myometrial Relaxation and Contraction Pathways
    Calcium Regulation in the Cardiac Cell0.43
    3Clathrin derived vesicle budding
    Membrane Trafficking0.32
    4Signaling in Gap Junctions
    Signaling in Gap Junctions0.31
    5Cell adhesion Gap junctions
    Cell adhesion Gap junctions


    Find genes that share SuperPaths with GJA5           About GenesLikeMe

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways

    1 Downloadable PowerPoint Slide of GeneGlobe Pathway Central Maps for GJA5
        Signaling in Gap Junctions

    2 GeneGo (Thomson Reuters) Pathways for GJA5
        Cell adhesion Endothelial cell contacts by junctional mechanisms
    Cell adhesion Gap junctions

    1 BioSystems Pathway for GJA5
        Calcium Regulation in the Cardiac Cell


    1 Reactome Pathway for GJA5
        Gap junction assembly

    1 PharmGKB Pathway for GJA5
        Antiarrhythmic Pathway, Pharmacodynamics

        Pathway & Disease-focused RT2 Profiler PCR Arrays including GJA5: 
              Cell Junction PathwayFinder in human mouse rat
              Gap Junctions in human mouse rat

    Interactions:

        Search GeneGlobe Interaction Network for GJA5

    STRING Interaction Network Preview (showing 5 interactants - click image to see 23)

    Selected Interacting proteins for GJA5 (P363822, 3 ENSP000002713484) via UniProtKB, MINT, STRING, and/or I2D (see all 23)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    AAR2Q9Y3122, 3, ENSP000003136744MINT-67788 I2D: score=5 STRING: ENSP00000313674
    GJA1P173023, ENSP000002825614I2D: score=2 STRING: ENSP00000282561
    PRKACAP176123, ENSP000003095914I2D: score=1 STRING: ENSP00000309591
    GJA10ENSP000003583584STRING: ENSP00000358358
    GJA3ENSP000002411254STRING: ENSP00000241125
    About this table

    Gene Ontology (GO): Selected biological process terms (see all 50):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0001501skeletal system development IEA--
    GO:0001525angiogenesis IEP11866539
    GO:0001568blood vessel development ----
    GO:0003071renal system process involved in regulation of systemic arterial blood pressure ----
    GO:0003073regulation of systemic arterial blood pressure ----

    Find genes that share ontologies with GJA5           About GenesLikeMe



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
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    Browse Small Molecules at EMD Millipore
       Browse drugs & compounds from Enzo Life Sciences
      Browse compounds at ApexBio 

    Compounds for GJA5 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 GJA5 (Cx40)    About this table
    LigandTypeActionAffinityPubmed IDs
    flufenamic acid
    InhibitorNone--
    octanol
    InhibitorNone--
    Ca2+
    InhibitorNone--
    carbenoxolone
    InhibitorNone--

    8 Novoseek inferred chemical compound relationships for GJA5 gene    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    connexin 45 77.2 9 7966354 (3), 15094345 (2), 7877871 (1)
    glycyrrhetinic acid 56.8 2 18401004 (1)
    ouabain 10.6 3 14971424 (2), 14645140 (1)
    nitric oxide 0.634 3 19686729 (1), 14681033 (1), 17559834 (1)
    atp 0 2 18401004 (2)
    sodium 0 1 15568605 (1)
    calcium 0 8 18401004 (3), 18278481 (2), 19615378 (1), 15913645 (1)
    retinoic acid 0 1 9283608 (1)



    Find genes that share compounds with GJA5           About GenesLikeMe



    (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,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
    Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, and/or Addgene, Primers from OriGene, and/or QIAGEN, Flow cytometry from eBioscience )
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    REFSEQ mRNAs for GJA5 gene (2 alternative transcripts): 
    NM_005266.6  NM_181703.3  

    Unigene Cluster for GJA5:

    Gap junction protein, alpha 5, 40kDa
    Hs.447968  [show with all ESTs]
    Unigene Representative Sequence: NM_005266
    3 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000369237 ENST00000430508 ENST00000271348(uc001eps.1 uc001ept.1)

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    hsa-miR-485-5p hsa-miR-513a-5p hsa-miR-1224-3p hsa-miR-4263 hsa-miR-1271 hsa-miR-1260b hsa-miR-181a-2* hsa-miR-199b-5p
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    Additional mRNA sequence: 

    AF074995.1 BC013313.2 BT019415.1 BT019416.1 

    8 DOTS entries:

    DT.453323  DT.100783703  DT.121643432  DT.100783698  DT.100783701  DT.97822315  DT.100742708  DT.100783700 

    Selected AceView cDNA sequences (see all 133):

    CR592992 BM907747 BM984338 BX377692 AA669536 BM970701 NM_005266 CK820997 
    BI793068 D31443 BF437243 BQ549393 BM920572 BQ023667 AI370498 BX337517 
    AL553708 AA043991 BC013313 AI394441 BQ215723 NM_181703 AA346963 BM906126 

    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™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
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    GJA5 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: GACCATTCCT
    GJA5 Expression
    About this image


    GJA5 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 10) fully expand
     
     Heart (Cardiovascular System)    fully expand to see all 6 entries
             His Bundle Cells Bundle of His
     
     Limb (Muscoskeletal System)    fully expand to see all 4 entries
             Mesenchymal Condensate Cells Zeugopod
             Zeugopod
     
     Brain (Nervous System)    fully expand to see all 4 entries
             Cerebral Cortex
     
     Bone (Muscoskeletal System)    fully expand to see all 2 entries
             Mesenchymal Condensate Cells Zeugopod
             Bone Marrow
     
     Placenta (Extraembryonic Tissues)    fully expand to see all 2 entries
             Extravillous Cytotrophoblast Cells Extravillous Cytotrophoblast Layer
    GJA5 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    GJA5 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.447968
        Pathway & Disease-focused RT2 Profiler PCR Arrays including GJA5: 
              Cell Junction PathwayFinder in human mouse rat
              Gap Junctions in human mouse rat

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    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for GJA5

    (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)
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    This gene was present in the common ancestor of chordates.

    Orthologs for GJA5 gene from Selected species (see all 11)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Gja51 , 5 gap junction protein, alpha 51, 5 82.12(n)1
    82.68(a)1
      3 (42.04 cM)5
    146131  NM_001271628.11  NP_001258557.11 
     970324165 
    chicken
    (Gallus gallus)
    Aves GJA51 gap junction protein, alpha 5, 40kDa 71.82(n)
    72.47(a)
      396502  NM_205504.1  NP_990835.1 
    lizard
    (Anolis carolinensis)
    Reptilia GJA56
    gap junction protein, alpha 5, 40kDa
    73(a)
    1 ↔ 1
    3(162064623-162065735)
    tropical clawed frog
    (Xenopus tropicalis)
    Amphibia gja51 gap junction protein, alpha 5, 40kDa 68(n)
    71.23(a)
      100489536  XM_004918216.1  XP_004918273.1 
    zebrafish
    (Danio rerio)
    Actinopterygii cx41.86
    cx45.66
    connexin 45.6
    57(a)
    52(a)
    1 ↔ many
    1 ↔ many
    1(47911841-47928560) ENSDARG00000069450
    9(31497949-31510619) ENSDARG00000040065


    ENSEMBL Gene Tree for GJA5 (if available)
    TreeFam Gene Tree for GJA5 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for GJA5 gene
    GJB32  GJA102  GJD32  GJB62  GJB42  GJB22  GJB72  GJA42  
    GJB52  GJA12  GJC12  GJC22  GJD22  GJA32  GJA92  GJA82  
    GJB12  
    16 SIMAP similar genes for GJA5 using alignment to 1 protein entry:     CXA5_HUMAN:
    GJA8    GJA3    GJA4    GJA9    GJB1    GJB2
    GJA1    GJA10    GJB5    GJB6    GJD2    GJD3
    GJB3    GJB4    GJB7    GJC1

    Find genes that share paralogs with GJA5           About GenesLikeMe



    (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), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
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    Selected SNPs for GJA5 (see all 440)    About this table                                 

    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 1 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1214345571,2,,4
    CAtrial standstill (ATST)4 pathogenic1154232410(-) GCCACG/TCCATG 4 A S mis10--------
    VAR_0350134
    Atrial standstill (ATST)4--see VAR_0350132 P S mis40--------
    VAR_0662514
    Atrial fibrillation, familial, 11 (ATFB11)4--see VAR_0662512 L M mis40--------
    VAR_0662504
    Atrial fibrillation, familial, 11 (ATFB11)4--see VAR_0662502 L I mis40--------
    VAR_0662494
    Atrial fibrillation, familial, 11 (ATFB11)4--see VAR_0662492 V I mis40--------
    rs587613011,2
    C--120650463(+) AAAAA-/AAAAAAAA
    /AAAAAAAAAA
    TTAAT
    1 -- int11NA 2
    rs783955511,2
    F--120661015(+) AGAGAT/GGAGTT 1 -- us2k12Minor allele frequency- G:0.19CSA WA 120
    rs1115835021,2
    C,F--147229292(-) CTCAGA/TTTCCC 4 -- ut312Minor allele frequency- T:0.00--512
    rs1407922951,2
    C--147239661(+) TTTTT-/GTATTTTT 1 -- int10--------
    rs583920331,2
    C--147239683(+) TTTTT-/TAGAGAT 1 -- int10--------

    HapMap Linkage Disequilibrium report for GJA5 (147228332 - 147245484 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 6 variations for GJA5:    About this table    
    Variant IDTypeSubtypePubMed ID
    nsv831426CNV Loss17160897
    nsv831437CNV Loss17160897
    nsv463506CNV Gain19166990
    nsv463517CNV Gain19166990
    nsv872266CNV Gain21882294
    nsv7181OTHER Inversion18451855

    Human Gene Mutation Database (HGMD): GJA5
    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing GJA5
    DNA2.0 Custom Variant and Variant Library Synthesis for GJA5

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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    OMIM gene information: 121013   
    OMIM disorders: 614049  108770  
    UniProtKB/Swiss-Prot: CXA5_HUMAN, P36382
  • Atrial standstill (ATST) [MIM:108770]: A rare arrhythmia characterized by the absence of electrical and
    mechanical activity in the atria. Electrocardiographically, it is characterized by bradycardia, the absence of P
    waves, and a junctional narrow complex escape rhythm. Note=The disease may be caused by mutations affecting
    distinct genetic loci, including the gene represented in this entry. A rare GJA5 genotype has been detected in
    combination with a mutation in SCN5A in a large family with atrial standstill
  • Atrial fibrillation, familial, 11 (ATFB11) [MIM:614049]: A familial form of atrial fibrillation, a common
    sustained cardiac rhythm disturbance. Atrial fibrillation is characterized by disorganized atrial electrical
    activity and ineffective atrial contraction promoting blood stasis in the atria and reduces ventricular filling.
    It can result in palpitations, syncope, thromboembolic stroke, and congestive heart failure. Note=The disease is
    caused by mutations affecting the gene represented in this entry

  • 9 diseases for GJA5:    
    About MalaCards
    gja5-related familial atrial fibrillation    atrial standstill, digenic    atrial fibrillation, familial, 11    atrial fibrillation, familial, 9
    familial atrial fibrillation    familial dilated cardiomyopathy    rheumatic heart disease    tetralogy of fallot
    peripheral neuropathy

    2 diseases from the University of Copenhagen DISEASES database for GJA5:
    Congenital heart defect     Heart disease

    Find genes that share disorders with GJA5           About GenesLikeMe

    7 Novoseek inferred disease relationships for GJA5 gene    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    atrial fibrillation 63.7 17 16790700 (4), 15657225 (2), 15061990 (1), 18278481 (1) (see all 11)
    defect conduction 47.9 3 10581143 (1), 11457872 (1), 18084293 (1)
    arrhythmia 43.6 5 16188595 (1), 19176598 (1), 17050003 (1), 15297374 (1) (see all 5)
    bundle branch block 35.7 1 11073876 (1)
    choriocarcinoma 32.8 2 10831124 (1), 8766010 (1)
    heart defects congenital 2.79 1 16480955 (1)
    tumors 1.21 2 1324944 (1), 15181016 (1)

    Genetic Association Database (GAD): GJA5
    Human Genome Epidemiology (HuGE) Navigator: GJA5 (11 documents)

    Export disorders for GJA5 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)
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    PubMed articles for GJA5 gene, integrated from 10 sources (see all 184):
    (articles sorted by number of sources associating them with GJA5)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Novel connexin40 missense mutations in patients with familial atrial fibrillation. (PubMed id 20650941)1, 2, 4 Yang Y.Q.... Fang W.Y. (Europace 2010)
    2. The association of human connexin 40 genetic polymorphisms with atrial fibrillation. (PubMed id 16814413)1, 4, 9 Juang J.M....Lai L.P. (Int. J. Cardiol. 2007)
    3. Somatic mutations in the connexin 40 gene (GJA5) in atrial fibrillation. (PubMed id 16790700)1, 2, 9 Gollob M.H.... Bai D. (N. Engl. J. Med. 2006)
    4. Absence of connexin 40 gene polymorphism, as a marker of undetected atrial fibrillation in patients with unexplained cerebral ischemic events. (PubMed id 19494781)1, 4, 9 Chaldoupi S.M....Loh P. (amp 2009)
    5. Association of human connexin40 gene polymorphisms with atrial vulnerability as a risk factor for idiopathic atrial fibrillation. (PubMed id 15297374)1, 4, 9 Firouzi M....Hauer R.N. (Circ. Res. 2004)
    6. Molecular cloning of two human cardiac gap junction proteins, connexin40 and connexin45. (PubMed id 7966354)1, 2, 9 Kanter H.L.... Beyer E.C. (J. Mol. Cell. Cardiol. 1994)
    7. Sporadic cases of dilated cardiomyopathies associated with atrioventricular conduction defects are not linked to mutation within the connexins 40 and 43 genes. (PubMed id 10581143)1, 2, 9 Haefliger J.-A.... Waeber G. (Eur. Heart J. 1999)
    8. [Genetic predisposition to development of atrial fibrillation in patients with hypertensive disease]. (PubMed id 20831043)1, 4 Gorshkova E.S....ZateA-shchikov D.A. (Kardiologiia 2010)
    9. Variation at the NFATC2 locus increases the risk of thiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipril and rosiglitazone Medication (DREAM) study. (PubMed id 20628086)1, 4 Bailey S.D....Anand S. (Diabetes Care 2010)
    10. The DNA sequence and biological annotation of human chromosome 1. (PubMed id 16710414)1, 2 Gregory S.G.... Bentley D.R. (Nature 2006)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     ANDOR
    Aliases
    Disorders
    Free Text  

      Query String
    PubMed
    OMIM
    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)
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    Entrez Gene: 2702 HGNC: 4279 AceView: GJA5 Ensembl:ENSG00000143140 euGenes: HUgn2702
    ECgene: GJA5 H-InvDB: GJA5

    (According to HUGE)
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      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
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    NameDescription
    PharmGKB entry for GJA5 Pharmacogenomics, SNPs, Pathways
    GeneReviewshttp://www.ncbi.nlm.nih.gov/books/NBK1116/?term=GJA5[genesymbol]

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
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    Patent Information for GJA5 gene:
    Search GeneIP for patents involving GJA5

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



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