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    Gjb4 gap junction protein, beta 4 [ Rattus norvegicus (Norway rat) ]

    Gene ID: 117055, updated on 9-Dec-2024

    Summary

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    Official Symbol
    Gjb4provided by RGD
    Official Full Name
    gap junction protein, beta 4provided by RGD
    Primary source
    RGD:621829
    See related
    EnsemblRapid:ENSRNOG00000026910 AllianceGenome:RGD:621829
    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
    Cxnb; Gjb4o; Cx30.3; Cnx30.3; Cx30.3o; Cnx30.3o
    Summary
    Predicted to enable gap junction channel activity. Predicted to be involved in cell-cell signaling and gap junction-mediated intercellular transport. Predicted to act upstream of or within olfactory behavior and sensory perception of smell. Predicted to be located in cell junction; nuclear lumen; and plasma membrane. Predicted to be part of connexin complex. Human ortholog(s) of this gene implicated in erythrokeratodermia variabilis and erythrokeratodermia variabilis et progressiva 2. Orthologous to human GJB4 (gap junction protein beta 4). [provided by Alliance of Genome Resources, Dec 2024]
    Expression
    Biased expression in Kidney (RPKM 6.8), Lung (RPKM 1.1) and 4 other tissues See more
    Orthologs
    human mouse all
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    Genomic context

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    See Gjb4 in Genome Data Viewer
    Location:
    5q36
    Exon count:
    4
    Annotation release Status Assembly Chr Location
    RS_2024_02 current GRCr8 (GCF_036323735.1) 5 NC_086023.1 (144948231..144964014, complement)
    RS_2023_06 previous assembly mRatBN7.2 (GCF_015227675.2) 5 NC_051340.1 (139675776..139679551, complement)
    106 previous assembly Rnor_6.0 (GCF_000001895.5) 5 NC_005104.4 (145416343..145421122, complement)

    Chromosome 5 - NC_086023.1Genomic Context describing neighboring genes Neighboring gene gap junction protein, alpha 4 Neighboring gene gap junction protein, beta 3 Neighboring gene gap junction protein, beta 5 Neighboring gene uncharacterized LOC134479031

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Bibliography

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    Related articles in PubMed

    1. Novel expression patterns of connexin 30.3 in adult rat cochlea. Wang WH, et al. Hear Res, 2010 Jun 14. PMID 20184948
    2. Rat connexins 30.3 and 31 are expressed in the kidney. Tucker MA, et al. Exp Cell Res, 1994 Jul. PMID 7517368
    3. Novel mutation in GJB4 gene (connexin 30.3) in a family with erythrokeratodermia variabilis. Sbidian E, et al. Acta Derm Venereol, 2013 Mar 27. PMID 23037955
    4. Genetic heterogeneity in erythrokeratodermia variabilis: novel mutations in the connexin gene GJB4 (Cx30.3) and genotype-phenotype correlations. Richard G, et al. J Invest Dermatol, 2003 Apr. PMID 12648223
    5. Mutation in the gene for connexin 30.3 in a family with erythrokeratodermia variabilis. Macari F, et al. Am J Hum Genet, 2000 Nov. PMID 11017804, Free PMC Article

    See all (10) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Results indicate the presence and localization of Cx30.3 in the rat cochlea.
      Title: Novel expression patterns of connexin 30.3 in adult rat cochlea.
    Submit: New GeneRIF Correction

    Pathways from PubChem

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    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 IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables gap junction channel activity ISO
    Inferred from Sequence Orthology
    more info
    		  
    enables gap junction channel activity ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    Process Evidence Code Pubs
    involved_in biological_process ND
    No biological Data available
    more info
    		  
    involved_in cell-cell signaling IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in cell-cell signaling IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in cell-cell signaling ISO
    Inferred from Sequence Orthology
    more info
    		  
    involved_in cell-cell signaling ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    involved_in gap junction-mediated intercellular transport IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in gap junction-mediated intercellular transport ISO
    Inferred from Sequence Orthology
    more info
    		  
    involved_in gap junction-mediated intercellular transport ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    involved_in olfactory behavior IEA
    Inferred from Electronic Annotation
    more info
    		  
    acts_upstream_of_or_within olfactory behavior ISO
    Inferred from Sequence Orthology
    more info
    		  
    involved_in sensory perception of smell IEA
    Inferred from Electronic Annotation
    more info
    		  
    acts_upstream_of_or_within sensory perception of smell ISO
    Inferred from Sequence Orthology
    more info
    		  
    involved_in transmembrane transport IEA
    Inferred from Electronic Annotation
    more info
    		  
    Component Evidence Code Pubs
    located_in cell junction ISO
    Inferred from Sequence Orthology
    more info
    		  
    part_of connexin complex IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    part_of connexin complex IEA
    Inferred from Electronic Annotation
    more info
    		  
    part_of connexin complex ISO
    Inferred from Sequence Orthology
    more info
    		  
    part_of connexin complex ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    located_in nucleolus IEA
    Inferred from Electronic Annotation
    more info
    		  
    located_in nucleolus ISO
    Inferred from Sequence Orthology
    more info
    		  
    located_in nucleoplasm IEA
    Inferred from Electronic Annotation
    more info
    		  
    located_in nucleoplasm ISO
    Inferred from Sequence Orthology
    more info
    		  
    located_in plasma membrane ISO
    Inferred from Sequence Orthology
    more info
    		  
    located_in plasma membrane ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  

    General protein information

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    Preferred Names
    gap junction beta-4 protein
    Names
    connexin 30.3o
    connexin b
    connexin-30.3
    gap junction membrane channel protein beta 4

    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_001389258.1 → NP_001376187.1  gap junction beta-4 protein

      Status: VALIDATED

      Source sequence(s)
      JAXUCZ010000005
      UniProtKB/Swiss-Prot
      P36380
      UniProtKB/TrEMBL
      A6ISD2, F1M8I1
      Related
      ENSRNOP00000033893.2, ENSRNOT00000037128.5
      Conserved Domains (1) summary
      pfam00029
      Location:2 → 210
      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_086023.1 Reference GRCr8

      Range
      144948231..144964014 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_063287084.1 → XP_063143154.1  gap junction beta-4 protein isoform X1

      UniProtKB/Swiss-Prot
      P36380

    Suppressed Reference Sequence(s)

    The following Reference Sequences have been suppressed. Explain

    1. NM_053984.2: Suppressed sequence

      Description
      NM_053984.2: This RefSeq record was removed by NCBI staff. Contact [email protected] for further information.
    Nucleotide Protein Strain
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    P36380.1 GenPept UniProtKB/Swiss-Prot:P36380

    Gene LinkOut

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

    Chemical Information
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