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GJC2 Gene

protein-coding   GIFtS: 55
GCID: GC01P228337

Gap Junction Protein, Gamma 2, 47kDa

(Previous names: gap junction protein, alpha 12, 47kDa)
(Previous symbol: GJA12)
  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, Gamma 2, 47kDa1 2     Gap Junction Protein, Alpha 12, 47kDa1
GJA121 2 3 5     CX46.62
Gap Junction Alpha-12 Protein2 3     connexin-46.62
Cx472 3     connexin-472
HLD22 5     Gap Junction Gamma-2 Protein2
LMPH1C2 5     Connexin-46.63
PMLDAR2 5     Connexin-473
SPG442 5     Cx46.63
Connexin 471     CX475

External Ids:    HGNC: 174941   Entrez Gene: 571652   Ensembl: ENSG000001988357   OMIM: 6088035   UniProtKB: Q5T4423   

Export aliases for GJC2 gene to outside databases

Previous GC identifers: GC01P226405 GC01P198852


(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 GJC2 Gene:
This gene encodes a gap junction protein. Gap junction proteins are members of a large family of homologous
connexins and comprise 4 transmembrane, 2 extracellular, and 3 cytoplasmic domains. This gene plays a key role in
central myelination and is involved in peripheral myelination in humans. Defects in this gene are the cause of
autosomal recessive Pelizaeus-Merzbacher-like disease-1. (provided by RefSeq, Jul 2008)

GeneCards Summary for GJC2 Gene:
GJC2 (gap junction protein, gamma 2, 47kDa) is a protein-coding gene. Diseases associated with GJC2 include leukodystrophy, hypomyelinating, 2, and hereditary lymphedema ic. GO annotations related to this gene include gap junction channel activity. An important paralog of this gene is GJB3.

UniProtKB/Swiss-Prot: CXG2_HUMAN, Q5T442
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. May play a role in myelination in
central and peripheral nervous systems

summary for GJC2 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 GJC2 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  NC_018912.2  NT_167186.2  
Regulatory elements:
   Regulatory transcription factor binding sites in the GJC2 gene promoter:
         GCNF   CUTL1   AP-4   YY1   Max   HEN1   GCNF-1   GCNF-2   ATF6   c-Myc   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidGJC2 promoter sequence
   Search Chromatin IP Primers for GJC2

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat GJC2


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

Entrez Gene cytogenetic band: 1q42.13   Ensembl cytogenetic band:  1q42.13   HGNC cytogenetic band: 1q41-q42

GJC2 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
GJC2 gene location

GeneLoc information about chromosome 1         GeneLoc Exon Structure

GeneLoc location for GC01P228337:  view genomic region     (about GC identifiers)

Start:
228,337,415 bp from pter      End:
228,347,527 bp from pter
Size:
10,113 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: CXG2_HUMAN, Q5T442 (See protein sequence)
Recommended Name: Gap junction gamma-2 protein  
Size: 439 amino acids; 47002 Da
Subunit: A connexon is composed of a hexamer of connexins. Interacts with TJP1 (By similarity)
Caution: It is uncertain whether Met-1 or Met-4 is the initiator
Sequence caution: Sequence=AAB94511.1; Type=Erroneous initiation; Note=Translation N-terminally extended;
Sequence=AAH35840.1; Type=Erroneous initiation; Note=Translation N-terminally extended;
Secondary accessions: O43440 Q7Z7J2 Q8IWJ9

Explore the universe of human proteins at neXtProt for GJC2: NX_Q5T442

Explore proteomics data for GJC2 at MOPED

Post-translational modifications: 

  • Modification sites at neXtProt
  • Modification sites at PhosphoSitePlus

  • See GJC2 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins: NP_065168.2  
    ENSEMBL proteins: 
     ENSP00000355675  
    Reactome Protein details: Q5T442

    GJC2 Human Recombinant Protein Products:

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    LSBio Antibodies in human, mouse, rat for GJC2

    GJC2 Assay Products:

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    Cloud-Clone Corp. CLIAs for GJC2


    (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: Cx47
    Connexins and Pannexins

    4 InterPro protein domains:
     IPR000500 Connexin
     IPR019570 Connexin_CCC
     IPR013092 Connexin_N
     IPR017990 Connexin_CS

    Graphical View of Domain Structure for InterPro Entry Q5T442

    ProtoNet protein and cluster: Q5T442

    1 Blocks protein domain: IPB013092 Connexin

    UniProtKB/Swiss-Prot: CXG2_HUMAN, Q5T442
    Similarity: Belongs to the connexin family. Gamma-type subfamily


    GJC2 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: CXG2_HUMAN, Q5T442
    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. May play a role in myelination in
    central and peripheral nervous systems

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

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005243gap junction channel activity IEA--
         
    GJC2 for ontologies           About GeneDecksing


    Phenotypes:
         7 MGI mutant phenotypes (inferred from 3 alleles(MGI details for Gjc2):
     behavior/neurological  hematopoietic system  immune system  mortality/aging  nervous system 
     normal  vision/eye 

    GJC2 for phenotypes           About GeneDecksing

    Animal Models:
         MGI mouse knock-out Gjc2tm1Paul for GJC2

       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for GJC2
       inGenious Targeting Laboratory: Contact us about creating complex and humanized mouse models for GJC2

       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for GJC2
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for GJC2

    miRNA
    Products:
        
    miRTarBase miRNAs that target GJC2:
    hsa-mir-346 (MIRT004225)

    Block miRNA regulation of human, mouse, rat GJC2 using miScript Target Protectors
    Search for qRT-PCR Assays for microRNAs that regulate GJC2
    SwitchGear 3'UTR luciferase reporter plasmidGJC2 3' UTR sequence
    Inhib. RNA
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    Predesigned siRNA for gene silencing in human, mouse, rat GJC2

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    GenScript: all cDNA clones in your preferred vector: GJC2 (NM_020435)
    Browse Sino Biological Human cDNA Clones
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    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat GJC2

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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for GJC2


    (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
    CXG2_HUMAN, Q5T442: Cell membrane; Multi-pass membrane protein. Cell junction, gap junction
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    plasma membrane5

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

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005921gap junction ----
    GO:0005922connexon complex IEA--
    GO:0016021integral component of membrane IEA--
    GO:0043209myelin sheath IEA--

    GJC2 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 GJC2 About    
    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

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways

    1 Downloadable PowerPoint Slide of GeneGlobe Pathway Central Maps for GJC2
        Signaling in Gap Junctions

    1 BioSystems Pathway for GJC2
        Calcium Regulation in the Cardiac Cell

    1 Reactome Pathway for GJC2
        Gap junction assembly



    GJC2 for pathways           About GeneDecksing

        Pathway & Disease-focused RT2 Profiler PCR Arrays including GJC2: 
              Cell Junction PathwayFinder in human mouse rat
              Gap Junctions in human mouse rat

    Interactions:

        Search GeneGlobe Interaction Network for GJC2

    STRING Interaction Network Preview (showing 5 interactants - click image to see 24)

    Selected Interacting proteins for GJC2 (Q5T4423 ENSP000003556754) via UniProtKB, MINT, STRING, and/or I2D (see all 24)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    ALBP027683, ENSP000002958974I2D: score=1 STRING: ENSP00000295897
    YBX3P169893, ENSP000002282514I2D: score=1 STRING: ENSP00000228251
    GJD2ENSP000002903744STRING: ENSP00000290374
    GJA1ENSP000002825614STRING: ENSP00000282561
    GJA10ENSP000003583584STRING: ENSP00000358358
    About this table

    Gene Ontology (GO): 3 biological process terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0007267cell-cell signaling IEA--
    GO:0008219cell death IEA--
    GO:0009636response to toxic substance IEA--

    GJC2 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 GJC2 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 GJC2 (Cx47)    About this table
    LigandTypeActionAffinityPubmed IDs
    flufenamic acid
    InhibitorNone--
    octanol
    InhibitorNone--
    Ca2+
    InhibitorNone--
    carbenoxolone
    InhibitorNone--



    (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 GJC2 gene: 
    NM_020435.3  

    Unigene Cluster for GJC2:

    Gap junction protein, gamma 2, 47kDa
    Hs.100072  [show with all ESTs]
    Unigene Representative Sequence: BC089439
    1 Ensembl transcript including schematic representation, and UCSC links where relevant:
    ENST00000366714(uc001hsk.3)
    miRNA
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    SwitchGear 3'UTR luciferase reporter plasmidGJC2 3' UTR sequence
    Inhib. RNA
    Products:
         
    OriGene RNAi products in human, mouse, rat for GJC2
    Predesigned siRNA for gene silencing in human, mouse, rat GJC2
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    OriGene clones in human, mouse for GJC2 (see all 7)
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    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector: GJC2 (NM_020435)
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for GJC2
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat GJC2
    Primer
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    OriGene qSTAR qPCR primer pairs in human, mouse for GJC2
    Pre-validated RT2 qPCR Primer Assay in human, mouse, rat GJC2
      QuantiTect SYBR Green Assays in human, mouse, rat GJC2
      QuantiFast Probe-based Assays in human, mouse, rat GJC2

    Additional mRNA sequence: 

    BC035840.1 BC089439.1 EU433401.1 

    1 DOTS entry:

    DT.455578 

    Selected AceView cDNA sequences (see all 32):

    BF000416 AI445146 AI240177 NM_020435 BF061637 BC035840 AY285161 BM809041 
    BG236840 AI937251 AI734863 BM723652 AI367323 AI819765 AW007036 BM717136 
    BU739494 AI871332 BM727416 BM717145 AI868661 AI685044 AI928698 AW119155 

    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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    GJC2 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: CTGGGGGAAT
    GJC2 Expression
    About this image


    GJC2 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 3) fully expand
     
     Fibroblasts
             Dermal Fibroblasts Dorsal Dermis
     
     Brain (Nervous System)
             Myelinating Oligodendrocyte Cells Forebrain White Matter
     
     Dermis (Integumentary System)
             Dermal Fibroblasts Dorsal Dermis
    GJC2 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    GJC2 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.100072

    UniProtKB/Swiss-Prot: CXG2_HUMAN, Q5T442
    Tissue specificity: Expressed in central nervous system, in sciatic nerve and sural nerve. Also detected in
    skeletal muscles

        Pathway & Disease-focused RT2 Profiler PCR Arrays including GJC2: 
              Cell Junction PathwayFinder in human mouse rat
              Gap Junctions in human mouse rat

    Primer
    Products:
    OriGene qSTAR qPCR primer pairs in human, mouse for GJC2
    Pre-validated RT2 qPCR Primer Assay in human, mouse, rat GJC2
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    QuantiFast Probe-based Assays in human, mouse, rat GJC2
    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for GJC2

    (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 GJC2 gene from Selected species (see all 10)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Gjc21 , 5 gap junction protein, gamma 21, 5 80.59(n)1
    83.33(a)1
      11 (37.05 cM)5
    1184541  NM_080454.41  NP_536702.31 
     591755685 
    chicken
    (Gallus gallus)
    Aves GJC26
    Gallus gallus gap junction protein, gamma 12, 47kD...
    57(a)
    1 ↔ 1
    2(2303738-2310415)
    lizard
    (Anolis carolinensis)
    Reptilia GJC26
    gap junction protein, gamma 2, 47kDa
    56(a)
    1 ↔ 1
    6(3167105-3168361)
    tropical clawed frog
    (Xenopus tropicalis)
    Amphibia Str.28952 Transcribed sequence with weak similarity to protein more 77.56(n)    142020040 
    zebrafish
    (Danio rerio)
    Actinopterygii cx47.16
    connexin 47.1
    53(a)
    1 ↔ 1
    2(3967127-3992746) ENSDARG00000073896


    ENSEMBL Gene Tree for GJC2 (if available)
    TreeFam Gene Tree for GJC2 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section

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    Paralogs for GJC2 gene
    GJB32  GJA102  GJD32  GJB62  GJB42  GJB22  GJB72  GJA42  
    GJA12  GJC12  GJB52  GJA52  GJD22  GJA32  GJA92  GJA82  
    GJB12  
    6 SIMAP similar genes for GJC2 using alignment to 2 protein entries:     CXG2_HUMAN (see all proteins):
    GJC1    GJD2    DKFZp686P0738    GJB2    GJA4    GJA9

    GJC2 for paralogs           About GeneDecksing



    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD), 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 GJC2 (see all 263)    About this table    
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 1 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    VAR_0638804
    Lymphedema, hereditary, 1C (LMPH1C)4--see VAR_0638802 R C mis40--------
    VAR_0638774
    Lymphedema, hereditary, 1C (LMPH1C)4--see VAR_0638772 S L mis40--------
    VAR_0631724
    Spastic paraplegia 44, autosomal recessive (SPG44)4--see VAR_0631722 I M mis40--------
    VAR_0237564
    Leukodystrophy, hypomyelinating, 2 (HLD2)4--see VAR_0237562 M T mis40--------
    VAR_0237544
    Leukodystrophy, hypomyelinating, 2 (HLD2)4--see VAR_0237542 P S mis40--------
    VAR_0237554
    Leukodystrophy, hypomyelinating, 2 (HLD2)4--see VAR_0237552 Y D mis40--------
    rs754694291,2
    C,Fpathogenic1235140353(+) CGCATC/G/TGTGCT 2 I M mis12WA NA 4506
    rs743153121,2
    Cpathogenic1235140513(+) CCACGC/TCCTCG 2 P S mis10--------
    rs743153131,2
    Cpathogenic1235141054(+) AGGTGC/TGACCG 2 R * stg10--------
    rs743153141,2
    Cpathogenic1235141150(+) TTATGG/TACGTG 2 D Y mis10--------

    HapMap Linkage Disequilibrium report for GJC2 (228337415 - 228347527 bp)

    Structural Variations
         Database of Genomic Variants (DGV) Selected variations for GJC2 (see all 13):    About this table    
    Variant IDTypeSubtypePubMed ID
    dgv538n71CNV Loss21882294
    nsv827019CNV Loss20364138
    nsv873256CNV Loss21882294
    nsv523935CNV Loss19592680
    nsv873257CNV Loss21882294
    dgv539n71CNV Loss21882294
    dgv537n71CNV Loss21882294
    nsv873252CNV Loss21882294
    nsv873255CNV Loss21882294
    esv32853CNV Gain17666407

    Human Gene Mutation Database (HGMD): GJC2
    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing GJC2
    DNA2.0 Custom Variant and Variant Library Synthesis for GJC2

    (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: 608803   
    OMIM disorders: 608804  613206  613480  
    UniProtKB/Swiss-Prot: CXG2_HUMAN, Q5T442
  • Leukodystrophy, hypomyelinating, 2 (HLD2) [MIM:608804]: An autosomal recessive hypomyelinating
    leukodystrophy with symptoms of Pelizaeus-Merzbacher disease. Clinically characterized by nystagmus, impaired
    motor development, ataxia, choreoathetotic movements, dysarthria, and progressive spasticity. Note=The disease is
    caused by mutations affecting the gene represented in this entry
  • Spastic paraplegia 44, autosomal recessive (SPG44) [MIM:613206]: A form of spastic paraplegia, a
    neurodegenerative disorder characterized by a slow, gradual, progressive weakness and spasticity of the lower
    limbs. Rate of progression and the severity of symptoms are quite variable. Initial symptoms may include
    difficulty with balance, weakness and stiffness in the legs, muscle spasms, and dragging the toes when walking.
    In some forms of the disorder, bladder symptoms (such as incontinence) may appear, or the weakness and stiffness
    may spread to other parts of the body. SPG39 is associated with a motor axonopathy affecting upper and lower
    limbs and resulting in progressive wasting of distal upper and lower extremity muscles. Note=The disease is
    caused by mutations affecting the gene represented in this entry
  • Lymphedema, hereditary, 1C (LMPH1C) [MIM:613480]: A chronic disabling condition which results in swelling
    of the extremities due to altered lymphatic flow. Patients with lymphedema suffer from recurrent local infections
    and physical impairment. Note=The disease is caused by mutations affecting the gene represented in this entry

  • Selected diseases for GJC2 (see all 22):    
    About MalaCards
    leukodystrophy, hypomyelinating, 2    hereditary lymphedema ic    spastic paraplegia 44, autosomal recessive    spastic paraplegia 44
    pelizaeus-merzbacher-like disease 1    gjc2-related disorders    hereditary lymphedema    pelizaeus-merzbacher disease
    hallermann-streiff syndrome    lymphedema    peripheral neuropathy    leukodystrophy
    hereditary spastic paraplegia    neuropathy    paraplegia    spasticity
    was-related disorders    neuronitis    ataxia    multiple myeloma

    2 diseases from the University of Copenhagen DISEASES database for GJC2:
    Pelizaeus-Merzbacher disease     Hallermann-Streiff syndrome

    GJC2 for disorders           About GeneDecksing

    2 Novoseek inferred disease relationships for GJC2 gene    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    pelizaeus-merzbacher-like disease 99.5 13 18094336 (2), 19056803 (1), 18521858 (1), 17171653 (1) (see all 9)
    pelizaeus-merzbacher disease 92.5 1 16441258 (1)


    Export disorders for GJC2 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 GJC2 gene, integrated from 10 sources (see all 39):
    (articles sorted by number of sources associating them with GJC2)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Hereditary spastic paraplegia is a novel phenotype for GJA12/GJC2 mutations. (PubMed id 19056803)1, 2, 3, 9 Orthmann-Murphy J.L.... Pareyson D. (Brain 2009)
    2. Mutations in the gene encoding gap junction protein alpha 12 (connexin 46.6) cause Pelizaeus-Merzbacher-like disease. (PubMed id 15192806)1, 2, 9 Uhlenberg B.... Gaertner J. (Am. J. Hum. Genet. 2004)
    3. GJC2 missense mutations cause human lymphedema. (PubMed id 20537300)1, 2 Ferrell R.E.... Finegold D.N. (Am. J. Hum. Genet. 2010)
    4. The DNA sequence and biological annotation of human chromosome 1. (PubMed id 16710414)1, 2 Gregory S.G.... Bentley D.R. (Nature 2006)
    5. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)1, 2 Gerhard D.S.... Malek J. (Genome Res. 2004)
    6. Analysis of human alternative first exons and copy number variation of the GJA12 gene in patients with Pelizaeus-Merzbacher-like disease. (PubMed id 18521858)1, 9 Ruf N. and Uhlenberg B. (Am. J. Med. Genet. B Neuropsychiatr. Genet. 2009)
    7. GJA12 mutations are a rare cause of Pelizaeus-Merzbacher-like disease. (PubMed id 18094336)1, 9 Henneke M....GAortner J. (Neurology 2008)
    8. Two novel gap junction protein alpha 12 gene mutations in two Chinese patients with Pelizaeus-Merzbacher-like disease. (PubMed id 19423250)1, 9 Wang J....Jiang Y. (amp 2010)
    9. Loss-of-function GJA12/Connexin47 mutations cause Pelizaeus-Merzbacher-like disease. (PubMed id 17344063)1, 9 Orthmann-Murphy J.L....Scherer S.S. (Mol. Cell. Neurosci. 2007)
    10. A novel deletion in the GJA12 gene causes Pelizaeus-Merzbacher-like disease. (PubMed id 17031678)1, 9 Salviati L....Laverda A. (Neurogenetics 2007)

    (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)
    About This Section

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    Entrez Gene: 57165 HGNC: 17494 AceView: GJA12 Ensembl:ENSG00000198835 euGenes: HUgn57165
    ECgene: GJC2 H-InvDB: GJC2

    (According to HUGE)
    About This Section

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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)
    About This Section

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    NameDescription
    PharmGKB entry for GJC2 Pharmacogenomics, SNPs, Pathways
    GeneReviewshttp://www.ncbi.nlm.nih.gov/books/NBK1116/?term=GJC2[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 GJC2 gene:
    Search GeneIP for patents involving GJC2

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



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