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

GJA4 Gene

protein-coding   GIFtS: 65
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)
About This Section

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

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 myocardial infarction, and among its related super-pathways are Gap junction assembly and Cell adhesion Endothelial cell contacts by junctional mechanisms. 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 73), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000001.10  NT_032977.9  NC_018912.2  
Regulatory elements:
   SABiosciences 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 SABiosciences Chromatin IP Primers for GJA4

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays 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 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: 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
Subcellular location: Cell membrane; Multi-pass membrane protein. Cell junction, gap junction
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:

  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_P35212

  • GJA4 Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    GJA4 Protein Expression
    REFSEQ proteins: NP_002051.2  
    ENSEMBL proteins: 
     ENSP00000343676   ENSP00000409186  
    Reactome Protein details: P35212
    Human Recombinant Protein Products for GJA4: 
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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:0005887integral to plasma membrane TAS7680674
    GO:0005921gap junction TAS7680674
    GO:0005922connexon complex IEA--
    GO:0016021integral to membrane ----

    GJA4 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: 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,
    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: 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 (GO ID links to tree view):    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 - Custom generated mouse model solutions for GJA4 
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    Inhib. RNA
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for GJA4


    (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 GJA4 About   (see all 9)                                                                                              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 Endothelial cell contacts by junctional mechanisms
    Cell adhesion Endothelial cell contacts by junctional mechanisms0.97
    3Cell adhesion Gap junctions
    Cell adhesion Gap junctions0.89
    4Calcium Regulation in the Cardiac Cell
    Calcium Regulation in the Cardiac Cell0.43
    5Membrane Trafficking
    Membrane Trafficking0.32

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways

    4 EMD Millipore Pathways for GJA4
        Potassium transporters- inward current
    Cell adhesion Gap junctions
    Sodium-coupled transporters and pumps
    Cell adhesion Endothelial cell contacts by junctional mechanisms

    1 Downloadable PowerPoint Slide of QIAGEN 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

    4        Reactome Pathways for GJA4
        Gap junction assembly
    Gap junction trafficking
    Membrane Trafficking
    Gap junction trafficking and regulation



    GJA4 for pathways           About GeneDecksing

    Interactions:

        Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for GJA4

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

    5/19 Interacting proteins for GJA4 (ENSP000003436764) via UniProtKB, MINT, STRING, and/or I2D (see all 19)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    GJA1ENSP000002825614STRING: ENSP00000282561
    GJA10ENSP000003583584STRING: ENSP00000358358
    GJA3ENSP000002411254STRING: ENSP00000241125
    GJA5ENSP000002713484STRING: ENSP00000271348
    GJA8ENSP000002409864STRING: ENSP00000240986
    About this table

    Gene Ontology (GO): 5/6 biological process terms (GO ID links to tree view) (see all 6):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0001568blood vessel development IEA--
    GO:0006810transport TAS7680674
    GO:0006816calcium ion transport IEA--
    GO:0007043cell-cell junction assembly TAS7680674
    GO:0007267cell-cell signaling IEA--

    GJA4 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

    GJA4 for compounds           About GeneDecksing

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

    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)

    Search CenterWatch for drugs/clinical trials and news about GJA4 / CXA4

    (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 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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    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 

    24/127 AceView cDNA sequences (see all 127):

    AI669551 BI771042 BX336109 AL047476 BX378549 BI915246 AU122429 BQ008813 
    AU103361 BX356882 AU139505 BI754573 AU122527 BX339333 BX338244 AW510493 
    BC072389 BU681046 BM544217 AW590110 BX378791 BU070432 BX365167 AU158055 

    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™, 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

    GJA4 expression in normal human tissues (normalized intensities)      GJA4 embryonic expression: see
    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 
     5/19 selected tissues (see all 19) fully expand
     
     Endothelium (Cardiovascular System)    fully expand to see all 9 entries
             Peripheral blood-derived endothelial progenitor cells
             Human Pulmonary Artery Endothelial Cells (HPAEC)   
             cd31+ cells   
     
     Blood (Hematopoietic System)    fully expand to see all 4 entries
             PureStem endothelial progenitor 30-MV2-12
             cd31+ cells   
     
     Heart (Cardiovascular System)    fully expand to see all 4 entries
             Endocardial Cells Endocardium
             Human Cardiac Myocytes-adult (HCM-a)   
     
     Brain (Nervous System)    fully expand to see all 3 entries
             Human Brain Microvascular Endothelial Cells (HBMEC)   
             brain/midbrain   
     
     Neural Tube (Nervous System)    fully expand to see all 3 entries
             Telencephalon

    See GJA4 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for GJA4

    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

        SABiosciences Expression via Pathway-Focused PCR Arrays including GJA4: 
              Cell Junction PathwayFinder in human mouse rat
              Gap Junctions in human mouse rat

    Primer
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    In Situ
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    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)
    About This Section

    This gene was present in the common ancestor of chordates.

    Orthologs for GJA4 gene from 5/11 species (see all 11)    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_008120.21  NP_032146.11 
     1273114215 
    chicken
    (Gallus gallus)
    Aves GJA41 gap junction protein, alpha 4, 37kDa 72.54(n)
    70.82(a)
      404529  NM_206984.3  NP_996867.3 
    lizard
    (Anolis carolinensis)
    Reptilia GJA46
    Gap junction protein
    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 cx39.46
    connexin 39.4
    38(a)
    possible ortholog
    19(38702212-38703405)


    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)
    About This Section
    Paralogs for GJA4 gene
    GJB32  GJA102  GJB62  GJB42  GJB22  GJB72  GJA12  GJC12  
    GJB52  GJC22  GJA52  GJD22  GJA32  GJA92  GJA82  GJB12  
    18/19 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) 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

    10/148 SNPs in GJA4 are shown (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
    ----------
    VAR_0091604
    ----see VAR_0091602 A V mis40--------
    VAR_0091594
    ----see VAR_0091592 P S mis40--------
    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--------

    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
    SABiosciences Cancer Mutation 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, Conferences by KenesGroup, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section
    OMIM gene information: 121012    OMIM disorders: --

    20/21 diseases for GJA4 (see all 21):    About MalaCards
    erythrokeratodermia variabilis    myocardial infarction    peripheral neuropathy    atherosclerosis
    neuropathy    acute myocardial infarction    essential hypertension    neuronitis
    kidney disease    infertility    periodontitis    endotheliitis
    hypertension    thrombosis    type 1 diabetes    obesity
    alcoholism    cerebritis    gastric cancer    breast cancer

    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)
    About This Section

    PubMed articles for GJA4 gene, integrated from 9 sources (see all 124):
    (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. (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. (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. (1999)
    4. Human connexin 37 is polymorphic but not mutated in tumours. (PubMed id 8761439)1, 2, 9 Krutovskikh V.... Yamasaki H. (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....Lehtimaki T.J. (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. (2008)
    7. Association between C1019T polymorphism of connexin37 and acute myocardial infarction: a study in patients from Sicily. (PubMed id 15982495)1, 4, 9 Listi F....Caruso C. (2005)
    8. [Association of C1019T polymorphism in the connexin37 gene and coronary artery disease in Chinese Han population] (PubMed id 17418016)1, 4, 9 Han Y.L....Kang J. (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. (2004)
    10. Mutations in the human connexin gene GJB3 cause erythrokeratodermia variabilis. (PubMed id 9843209)1, 3, 9 Richard G.... Bale S.J. (1998)

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     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)
    About This Section
    Entrez Gene: 2701 HGNC: 4278 AceView: GJA4 Ensembl:ENSG00000187513 euGenes: HUgn2701
    ECgene: GJA4 H-InvDB: GJA4

    (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 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.)
    About This Section
    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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    About This Section

     
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