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    Gjc2 gap junction protein, gamma 2 [ Rattus norvegicus (Norway rat) ]

    Gene ID: 497913, updated on 2-Nov-2024

    Summary

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    Official Symbol
    Gjc2provided by RGD
    Official Full Name
    gap junction protein, gamma 2provided by RGD
    Primary source
    RGD:1562712
    See related
    EnsemblRapid:ENSRNOG00000038328 AllianceGenome:RGD:1562712
    Gene type
    protein coding
    RefSeq status
    VALIDATED
    Organism
    Rattus norvegicus
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Rattus
    Also known as
    Cx47; Gja12
    Summary
    Predicted to enable gap junction channel activity involved in cell communication by electrical coupling. Involved in several processes, including negative regulation of G1/S transition of mitotic cell cycle; positive regulation of calcium ion transmembrane transport; and positive regulation of oligodendrocyte progenitor proliferation. Located in several cellular components, including paranode region of axon; perikaryon; and proximal neuron projection. Biomarker of Parkinson's disease. Human ortholog(s) of this gene implicated in hereditary lymphedema IC; hereditary spastic paraplegia 44; hypomyelinating leukodystrophy 2; and lymphedema. Orthologous to human GJC2 (gap junction protein gamma 2). [provided by Alliance of Genome Resources, Nov 2024]
    Expression
    Biased expression in Brain (RPKM 54.1), Lung (RPKM 12.2) and 9 other tissues See more
    Orthologs
    human mouse all
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    Genomic context

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    See Gjc2 in Genome Data Viewer
    Location:
    10q22
    Exon count:
    4
    Annotation release Status Assembly Chr Location
    RS_2024_02 current GRCr8 (GCF_036323735.1) 10 NC_086028.1 (44462203..44470924, complement)
    RS_2023_06 previous assembly mRatBN7.2 (GCF_015227675.2) 10 NC_051345.1 (43962642..43971358, complement)
    106 previous assembly Rnor_6.0 (GCF_000001895.5) 10 NC_005109.4 (45526740..45535520, complement)

    Chromosome 10 - NC_086028.1Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC100911111 Neighboring gene obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF Neighboring gene iron-sulfur cluster assembly factor IBA57 Neighboring gene guanylate kinase 1 Neighboring gene similar to human chromosome 1 open reading frame 35 Neighboring gene mitochondrial ribosomal protein L55

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: A rat RNA-Seq transcriptomic BodyMap across 11 organs and 4 developmental stages A rat RNA-Seq transcriptomic BodyMap across 11 organs and 4 developmental stages
    • Description: 320 RNA samples isolated from 11 organs (adrenal gland, brain, heart, kidney, liver, lung, muscle, spleen, thymus, and testes or uterus) from both sexes of Fischer 344 rats across four developmental stages (2-, 6-, 21-, and 104-weeks-old)
    • BioProject: PRJNA238328
    • Publication: PMID 24510058
    • Analysis date: Mon Jun 6 17:44:12 2016

    Bibliography

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    Related articles in PubMed

    1. GJA12 mutations in children with recessive hypomyelinating leukoencephalopathy. Bugiani M, et al. Neurology, 2006 Jul 25. PMID 16707726
    2. Extensive dysregulations of oligodendrocytic and astrocytic connexins are associated with disease progression in an amyotrophic lateral sclerosis mouse model. Cui Y, et al. J Neuroinflammation, 2014 Mar 6. PMID 24597481, Free PMC Article
    3. Nigrostriatal proteomics of cypermethrin-induced dopaminergic neurodegeneration: microglial activation-dependent and -independent regulations. Singh AK, et al. Toxicol Sci, 2011 Aug. PMID 21561882
    4. Astrocytes regulate the expression of Sp1R3 on oligodendrocyte progenitor cells through Cx47 and promote their proliferation. Xu D, et al. Biochem Biophys Res Commun, 2017 Aug 26. PMID 28634078
    5. GJA12 mutations are a rare cause of Pelizaeus-Merzbacher-like disease. Henneke M, et al. Neurology, 2008 Mar 4. PMID 18094336

    See all (25) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Astrocytes induce proliferation of oligodendrocyte progenitor cells via connexin 47-mediated activation of Chi3l1 expression.
      Title: Astrocytes induce proliferation of oligodendrocyte progenitor cells via connexin 47-mediated activation of Chi3l1 expression.
    2. Astrocytes regulate the expression of S1pR3 in oligodendrocyte progenitor cells via Cx47, which could be a valuable approach for promoting oligodendrocyte progenitor cells proliferation.
      Title: Astrocytes regulate the expression of Sp1R3 on oligodendrocyte progenitor cells through Cx47 and promote their proliferation.
    3. Astrocytes can cause Ca(2+) signaling activation, ERK1/2 phosphorylation, and Id4 expression stimulation in oligodendrocyte progenitor cells inducing proliferation of these cells, mainly through Cx47.
      Title: Astrocytes induce proliferation of oligodendrocyte progenitor cells via connexin 47-mediated activation of the ERK/Id4 pathway.
    4. The study suggested that Cx47 play a key role in myelination.
      Title: Dynamic expression of Cx47 in mouse brain development and in the cuprizone model of myelin plasticity.
    Submit: New GeneRIF Correction

    Pathways from PubChem

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    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Gene Ontology Provided by RGD

    Function Evidence Code Pubs
    enables gap junction channel activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables gap junction channel activity ISO
    Inferred from Sequence Orthology
    more info
    		  
    enables gap junction channel activity involved in cell communication by electrical coupling ISO
    Inferred from Sequence Orthology
    more info
    		  
    Process Evidence Code Pubs
    involved_in cell communication by electrical coupling ISO
    Inferred from Sequence Orthology
    more info
    		  
    involved_in cell-cell signaling IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    acts_upstream_of_or_within cell-cell signaling ISO
    Inferred from Sequence Orthology
    more info
    		  
    involved_in negative regulation of G1/S transition of mitotic cell cycle IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in positive regulation of calcium ion transmembrane transport IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in positive regulation of gene expression IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in positive regulation of oligodendrocyte progenitor proliferation IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in regulation of protein phosphorylation IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    acts_upstream_of_or_within response to toxic substance ISO
    Inferred from Sequence Orthology
    more info
    		  
    involved_in transmembrane transport IEA
    Inferred from Electronic Annotation
    more info
    		  
    Component Evidence Code Pubs
    part_of connexin complex IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in gap junction IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in gap junction ISO
    Inferred from Sequence Orthology
    more info
    		  
    located_in myelin sheath ISO
    Inferred from Sequence Orthology
    more info
    		  
    located_in neuronal cell body IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in paranode region of axon IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in perikaryon IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in proximal neuron projection IDA
    Inferred from Direct Assay
    more info
    		 PubMed 

    General protein information

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    Preferred Names
    gap junction gamma-2 protein
    Names
    connexin-47
    gap junction alpha-12 protein
    gap junction membrane channel protein alpha 12
    gap junction protein, alpha 12

    NCBI Reference Sequences (RefSeq)

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    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    mRNA and Protein(s)

    1. NM_001100784.1 → NP_001094254.1  gap junction gamma-2 protein

      See identical proteins and their annotated locations for NP_001094254.1

      Status: VALIDATED

      Source sequence(s)
      JAXUCZ010000010
      UniProtKB/Swiss-Prot
      Q80XF7
      Related
      ENSRNOP00000064383.1, ENSRNOT00000058362.5
      Conserved Domains (3) summary
      smart00037
      Location:45 → 78
      CNX; Connexin homologues
      smart01089
      Location:222 → 288
      Connexin_CCC; Gap junction channel protein cysteine-rich domain
      pfam00029
      Location:5 → 289
      Connexin; Connexin

    RefSeqs of Annotated Genomes: GCF_036323735.1-RS_2024_02

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCr8

    Genomic

    1. NC_086028.1 Reference GRCr8

      Range
      44462203..44470924 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_006246515.5 → XP_006246577.1  gap junction gamma-2 protein isoform X3

      See identical proteins and their annotated locations for XP_006246577.1

      UniProtKB/Swiss-Prot
      Q80XF7
      Conserved Domains (3) summary
      smart00037
      Location:45 → 78
      CNX; Connexin homologues
      smart01089
      Location:222 → 288
      Connexin_CCC; Gap junction channel protein cysteine-rich domain
      pfam00029
      Location:5 → 289
      Connexin; Connexin

    2. XM_039086565.2 → XP_038942493.1  gap junction gamma-2 protein isoform X1

      Related
      ENSRNOP00000102028.1, ENSRNOT00000167661.1
      Conserved Domains (1) summary
      pfam00029
      Location:96 → 381
      Connexin

    3. XM_063269613.1 → XP_063125683.1  gap junction gamma-2 protein isoform X2

    4. XM_039086566.2 → XP_038942494.1  gap junction gamma-2 protein isoform X4

      Conserved Domains (1) summary
      pfam00029
      Location:108 → 198
      Connexin
    Nucleotide Protein Strain
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q80XF7.2 GenPept UniProtKB/Swiss-Prot:Q80XF7

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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