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GJA4 Gene

protein-coding   GIFtS: 64
GCID: GC01P035258

Gap Junction Protein, Alpha 4, 37kDa

(Previous names: gap junction protein, alpha 4, 37kD (connexin 37), gap junction...)
  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)
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Aliases
Gap Junction Protein, Alpha 4, 37kDa1 2     connexin-372
Connexin 371 2     Gap Junction Alpha-4 Protein2
CX372 5     Connexin-373
Gap Junction Protein, Alpha 4, 37kD (Connexin 37)1     Cx373
Gap Junction Protein, Alpha 4, 37kDa (Connexin 37)1     

External Ids:    HGNC: 42781   Entrez Gene: 27012   Ensembl: ENSG000001875137   OMIM: 1210125   UniProtKB: P352123   

Export aliases for GJA4 gene to outside databases

Previous GC identifers: GC01P035079 GC01P034314 GC01P034685 GC00M9U0037 GC01P034927 GC01P033376


(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 GJA4 Gene:
This gene encodes 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 have been associated with atherosclerosis and a higher risk
of myocardial infarction. (provided by RefSeq, Jul 2008)

GeneCards Summary for GJA4 Gene:
GJA4 (gap junction protein, alpha 4, 37kDa) is a protein-coding gene. Diseases associated with GJA4 include erythrokeratodermia variabilis, and peripheral neuropathy. An important paralog of this gene is GJB3.

UniProtKB/Swiss-Prot: CXA4_HUMAN, P35212
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 GJA4 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 GJA4 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:
NC_000001.11  NT_032977.10  NC_018912.2  
Regulatory elements:
   Regulatory transcription factor binding sites in the GJA4 gene promoter:
         POU2F2 (Oct-2.1)   Oct-B1   oct-B3   oct-B2   POU2F2   POU2F2C   Pax-3   POU2F1   POU2F1a   POU2F2B   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidGJA4 promoter sequence
   Search Chromatin IP Primers for GJA4

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat GJA4


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

Entrez Gene cytogenetic band: 1p35.1   Ensembl cytogenetic band:  1p34.3   HGNC cytogenetic band: 1p35.1

GJA4 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
GJA4 gene location

GeneLoc information about chromosome 1         GeneLoc Exon Structure

GeneLoc location for GC01P035258:  view genomic region     (about GC identifiers)

Start:
35,258,599 bp from pter      End:
35,261,348 bp from pter
Size:
2,750 bases      Orientation:
plus 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, 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., Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, Cloud-Clone Corp, and/or others.)
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UniProtKB/Swiss-Prot: CXA4_HUMAN, P35212 (See protein sequence)
Recommended Name: Gap junction alpha-4 protein  
Size: 333 amino acids; 37414 Da
Subunit: A connexon is composed of a hexamer of connexins
Secondary accessions: A8K698 D3DPR4 Q9P106 Q9UBL1 Q9UNA9 Q9UNB0 Q9UNB1 Q9Y5N7

Explore the universe of human proteins at neXtProt for GJA4: NX_P35212

Explore proteomics data for GJA4 at MOPED

Post-translational modifications: 

  • Modification sites at neXtProt
  • Modification sites at PhosphoSitePlus

  • See GJA4 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins: NP_002051.2  
    ENSEMBL proteins: 
     ENSP00000343676   ENSP00000409186  
    Reactome Protein details: P35212

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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: Cx37
    Connexins and Pannexins

    5 InterPro protein domains:
     IPR000500 Connexin
     IPR019570 Connexin_CCC
     IPR013092 Connexin_N
     IPR002263 Connexin37
     IPR017990 Connexin_CS

    Graphical View of Domain Structure for InterPro Entry P35212

    ProtoNet protein and cluster: P35212

    2 Blocks protein domains:
    IPB002263 Gap junction alpha-4 protein (Connexin37) signature
    IPB013092 Connexin


    UniProtKB/Swiss-Prot: CXA4_HUMAN, P35212
    Similarity: Belongs to the connexin family. Alpha-type (group II) subfamily


    GJA4 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,
    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, and Vector BioLabs, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Molecular Function:

         UniProtKB/Swiss-Prot Summary: CXA4_HUMAN, P35212
    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 GJA4:
    gap junction protein,alpha 4,37kDa (connexin 37),monomer of the connexon (six subunits)

         Gene Ontology (GO): 1 molecular function term:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005515protein binding IPI--
         
    GJA4 for ontologies           About GeneDecksing


    Phenotypes:
         1 GenomeRNAi human phenotype for GJA4:
     Decreased cell number, increas 

         7 MGI mutant phenotypes (inferred from 1 allele(MGI details for Gja4):
     cardiovascular system  digestive/alimentary  endocrine/exocrine gland  mortality/aging  muscle 
     reproductive system  respiratory system 

    GJA4 for phenotypes           About GeneDecksing

    Animal Models:
         MGI mouse knock-out Gja4tm1Paul for GJA4

       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for GJA4
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       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for GJA4
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for GJA4

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    Inhib. RNA
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for GJA4


    (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
    CXA4_HUMAN, P35212: Cell membrane; Multi-pass membrane protein. Cell junction, gap junction
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    plasma membrane5
    extracellular1

    Gene Ontology (GO): 4 cellular component terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005887integral component of plasma membrane TAS7680674
    GO:0005921gap junction TAS7680674
    GO:0005922connexon complex IEA--
    GO:0016021integral component of membrane ----

    GJA4 for ontologies           About GeneDecksing


    (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 GJA4 About   (see all 9)  
    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
    5Sodium coupled transporters and pumps
    Sodium coupled transporters and pumps

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways

    1 Downloadable PowerPoint Slide of GeneGlobe Pathway Central Maps for GJA4
        Signaling in Gap Junctions

    2 GeneGo (Thomson Reuters) Pathways for GJA4
        Cell adhesion Endothelial cell contacts by junctional mechanisms
    Cell adhesion Gap junctions

    2 BioSystems Pathways for GJA4
        Calcium Regulation in the Cardiac Cell
    Ovarian Infertility Genes

    1 Reactome Pathway for GJA4
        Gap junction assembly



    GJA4 for pathways           About GeneDecksing

        Pathway & Disease-focused RT2 Profiler PCR Arrays including GJA4: 
              Cell Junction PathwayFinder in human mouse rat
              Gap Junctions in human mouse rat

    Interactions:

        Search GeneGlobe Interaction Network for GJA4

    STRING Interaction Network Preview (showing 5 interactants - click image to see 19)

    Selected Interacting proteins for GJA4 (P352121 ENSP000003436764) via UniProtKB, MINT, STRING, and/or I2D (see all 20)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    OPRM1P353721EBI-6918707,EBI-2624570
    GJA1ENSP000002825614STRING: ENSP00000282561
    GJA10ENSP000003583584STRING: ENSP00000358358
    GJA3ENSP000002411254STRING: ENSP00000241125
    GJA5ENSP000002713484STRING: ENSP00000271348
    About this table

    Gene Ontology (GO): Selected biological process terms (see all 7):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0001568blood vessel development IEA--
    GO:0003158endothelium development IEA--
    GO:0006810transport TAS7680674
    GO:0006816calcium ion transport IEA--
    GO:0007043cell-cell junction assembly TAS7680674

    GJA4 for ontologies           About GeneDecksing



    (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 GJA4 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 GJA4 (Cx37)    About this table
    LigandTypeActionAffinityPubmed IDs
    flufenamic acid
    InhibitorNone--
    octanol
    InhibitorNone--
    Ca2+
    InhibitorNone--
    carbenoxolone
    InhibitorNone--

    4 Novoseek inferred chemical compound relationships for GJA4 gene    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    nitric oxide 9.01 5 14681033 (1), 15481066 (1), 17559834 (1), 20081116 (1)
    serine 8.97 1 9930656 (1)
    retinoic acid 0.941 1 9283608 (1)
    sucrose 0 1 12064588 (1)



    GJA4 for compounds           About GeneDecksing



    (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, Primers from OriGene, and/or QIAGEN )
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    REFSEQ mRNAs for GJA4 gene: 
    NM_002060.2  

    Unigene Cluster for GJA4:

    Gap junction protein, alpha 4, 37kDa
    Hs.296310  [show with all ESTs]
    Unigene Representative Sequence: NM_002060
    2 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000342280(uc009vul.3 uc001bya.3) ENST00000450137(uc009vum.1)

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      QuantiFast Probe-based Assays in human, mouse, rat GJA4

    Additional mRNA sequence: 

    AF180815.1 AF181620.1 AK291563.1 AK310985.1 AK313477.1 BC027889.1 BC072389.1 M96789.2 

    5 DOTS entries:

    DT.212435  DT.100784774  DT.100785742  DT.100784768  DT.99956201 

    Selected AceView cDNA sequences (see all 127):

    AL047476 BC072389 BX378549 AU122527 AU139505 AU103361 BI915246 BX338244 
    BI754573 BX339333 AW510493 BQ008813 BU681046 AI669551 AU122429 BX336109 
    BX356882 BI771042 BM906348 CF594282 BI836717 BX382150 BU070432 BV190453 

    GeneLoc Exon Structure

    4 Alternative Splicing Database (ASD) splice patterns (SP) for GJA4    About this scheme

    ExUns: 1a · 1b · 1c · 1d ^ 2a · 2b · 2c · 2d · 2e
    SP1:              -     -                                 
    SP2:              -     -     -                           
    SP3:                    -                                 
    SP4:                                                      


    ECgene alternative splicing isoforms for GJA4

    (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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    GJA4 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: GAATGCTCTT
    GJA4 Expression
    About this image


    GJA4 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
     
     Ovary (Reproductive System)    fully expand to see all 3 entries
             Primary Oocyte Primary Follicle
     
     Gonad
             Primary Oocyte Primary Follicle
     
     Neural Tube (Nervous System)    fully expand to see all 3 entries
             Telencephalon
     
     Primitive Streak (Early Embryo)    fully expand to see all 2 entries
             Extraembryonic Mural Cells Extraembryonic Mesoderm
             Primitive streak-like cells
     
     Heart (Cardiovascular System)
             Endocardial Cells Endocardium
    GJA4 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    GJA4 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.296310

    UniProtKB/Swiss-Prot: CXA4_HUMAN, P35212
    Tissue specificity: Expressed in multiple organs and tissues, including heart, uterus, ovary, and blood vessel
    endothelium

        Pathway & Disease-focused RT2 Profiler PCR Arrays including GJA4: 
              Cell Junction PathwayFinder in human mouse rat
              Gap Junctions in human mouse rat

    Primer
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    QuantiFast Probe-based Assays in human, mouse, rat GJA4
    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for GJA4

    (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 GJA4 gene from Selected species (see all 12)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Gja41 , 5 gap junction protein, alpha 41, 5 87.09(n)1
    88.89(a)1
      4 (61.47 cM)5
    146121  NM_008120.31  NP_032146.11 
     1273114215 
    chicken
    (Gallus gallus)
    Aves GJA41 gap junction protein, alpha 4, 37kDa 73.13(n)
    70.9(a)
      404529  NM_206984.3  NP_996867.3 
    lizard
    (Anolis carolinensis)
    Reptilia GJA46
    gap junction protein, alpha 4, 37kDa
    64(a)
    1 ↔ 1
    GL343594.1(211406-212464)
    African clawed frog
    (Xenopus laevis)
    Amphibia LOC3978662 X.laevis connexin 38 mRNA, complete cds 72.8(n)    X17242.1 
    zebrafish
    (Danio rerio)
    Actinopterygii cx28.96
    cx32.36
    (see all 6)
    connexin 32.3
    (see all 6)
    52(a)
    49(a)
    (see all 6)
    many ↔ many
    many ↔ many
    (see all 6)
    20(40776485-40782684) ENSDARG00000041797
    20(40785249-40787345) ENSDARG00000041787


    ENSEMBL Gene Tree for GJA4 (if available)
    TreeFam Gene Tree for GJA4 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for GJA4 gene
    GJB32  GJA102  GJD32  GJB62  GJB42  GJB22  GJB72  GJA12  
    GJC12  GJB52  GJC22  GJA52  GJD22  GJA32  GJA92  GJA82  
    GJB12  
    Selected SIMAP similar genes for GJA4 using alignment to 2 protein entries:     CXA4_HUMAN (see all proteins) (see all similar genes):
    GJA8    GJA9    GJB2    GJA10    GJC1    GJA5
    GJA1    GJA3    GJB1    GJB6    GJB4    GJB7
    GJB5    GJC3    DKFZp686P0738    GJD2    GJB3    GJC2

    GJA4 for paralogs           About GeneDecksing


    1 Pseudogenes.org Pseudogene for GJA4
    PGOHUM00000237012


    (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 GJA4 (see all 148)    About this table    
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 1 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1140920461,2
    F--35256623(+) AGCTTC/ATTCAT 1 -- us2k11Minor allele frequency- A:0.03WA 118
    rs1817676691,2
    --35256808(+) AACTCC/GGTAGT 1 -- us2k10--------
    rs1872583401,2
    --35256858(+) CCAGGA/GGCCTC 1 -- us2k10--------
    rs1481958751,2
    C--35256878(+) GCCCTC/GAAGGG 1 -- us2k10--------
    rs726557931,2
    C,F--35256980(+) CCAGCC/TGGATC 1 -- us2k10--------
    rs744257261,2
    C,F--35257021(+) GTCTGC/TGTGTC 1 -- us2k11Minor allele frequency- T:0.07EA 120
    rs46528611,2
    C,F--35257084(+) CCTGGG/AGCCCA 1 -- us2k17Minor allele frequency- A:0.10NA CSA WA 247
    rs1910429191,2
    --35257378(+) AGAAAC/TTGAGG 1 -- us2k10--------
    rs46530911,2
    C,F,H--35257416(+) GGTACA/GGGAGT 1 -- us2k122Minor allele frequency- G:0.31NS EA NA WA CSA 2350
    rs1821228981,2
    --35257439(+) CTCAGC/TTCCTG 1 -- us2k10--------

    HapMap Linkage Disequilibrium report for GJA4 (35258599 - 35261348 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 1 variation for GJA4:    About this table    
    Variant IDTypeSubtypePubMed ID
    esv1003104CNV Deletion20482838

    Human Gene Mutation Database (HGMD): GJA4
    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing GJA4
    DNA2.0 Custom Variant and Variant Library Synthesis for GJA4

    (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: 121012    OMIM disorders: --

    20 diseases for GJA4:    
    About MalaCards
    erythrokeratodermia variabilis    peripheral neuropathy    myocardial infarction    atherosclerosis
    coronary artery disease    neuropathy    acute myocardial infarction    essential hypertension
    neuronitis    kidney disease    hypertension    infertility
    periodontitis    endotheliitis    type 1 diabetes    obesity
    cerebritis    schizophrenia    breast cancer    leukemia

    1 disease from the University of Copenhagen DISEASES database for GJA4:
    Atherosclerosis

    GJA4 for disorders           About GeneDecksing

    6 Novoseek inferred disease relationships for GJA4 gene    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    erythrokeratodermia variabilis 85.7 2 9347797 (1)
    atherosclerotic plaque 33.3 6 10447790 (3), 16862155 (1), 19166859 (1)
    atherosclerosis 33.1 10 16862155 (3), 17318613 (1), 15982495 (1), 19166859 (1)
    coronary artery disease 23.8 7 18073482 (1), 17318613 (1), 17418016 (1), 15982495 (1) (see all 5)
    myocardial infarction 9.67 6 18073482 (1), 17318613 (1), 12477941 (1), 20081116 (1)
    cancer 0 3 10728596 (1)

    Genetic Association Database (GAD): GJA4
    Human Genome Epidemiology (HuGE) Navigator: GJA4 (28 documents)

    Export disorders for GJA4 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 GJA4 gene, integrated from 10 sources (see all 126):
    (articles sorted by number of sources associating them with GJA4)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Molecular cloning and functional expression of human connexin37, an endothelial cell gap junction protein. (PubMed id 7680674)1, 2, 3, 9 Reed K.E....Beyer E.C. (J. Clin. Invest. 1993)
    2. Human hemangiosarcomas have a common polymorphism but no mutations in the connexin37 gene. (PubMed id 10728596)1, 2, 9 Saito T....Yamasaki H. (Int. J. Cancer 2000)
    3. A genetic polymorphism in connexin 37 as a prognostic marker for atherosclerotic plaque development. (PubMed id 10447790)1, 2, 9 Boerma M.... Cotgreave I.A. (J. Intern. Med. 1999)
    4. Human connexin 37 is polymorphic but not mutated in tumours. (PubMed id 8761439)1, 2, 9 Krutovskikh V.... Yamasaki H. (Carcinogenesis 1996)
    5. The influence of smoking and homocysteine on subclinical atherosclerosis is modified by the connexin37 C1019T polymorphism - The Cardiovascular Risk in Young Finns Study. (PubMed id 18605953)1, 4, 9 Collings A....LehtimAoki T.J. (Clin. Chem. Lab. Med. 2008)
    6. Association of connexin 37 gene polymorphisms with risk of coronary artery disease in northern Han Chinese. (PubMed id 18073482)1, 4, 9 Han Y....Kang J. (Cardiology 2008)
    7. Association between C1019T polymorphism of connexin37 and acute myocardial infarction: a study in patients from Sicily. (PubMed id 15982495)1, 4, 9 ListA- F....Caruso C. (Int. J. Cardiol. 2005)
    8. [Association of C1019T polymorphism in the connexin 37 gene and coronary artery disease in Chinese Han population]. (PubMed id 17418016)1, 4, 9 Han Y.L....Kang J. (Zhonghua Yi Xue Za Zhi 2007)
    9. Genotypes associated with myocardial infarction risk are more common in African Americans than in European Americans. (PubMed id 15234427)1, 4, 9 Lanfear D.E....McLeod H.L. (J. Am. Coll. Cardiol. 2004)
    10. Mutations in the human connexin gene GJB3 cause erythrokeratodermia variabilis. (PubMed id 9843209)1, 3, 9 Richard G.... Bale S.J. (Nat. Genet. 1998)

    (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: 2701 HGNC: 4278 AceView: GJA4 Ensembl:ENSG00000187513 euGenes: HUgn2701
    ECgene: GJA4 H-InvDB: GJA4

    (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 GJA4 Pharmacogenomics, SNPs, Pathways
    ATLAS Chromosomes in Cancer entry for GJA4 Genetics and Cytogenetics in Oncology and Haematology

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
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    Patent Information for GJA4 gene:
    Search GeneIP for patents involving GJA4

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



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