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    Gjb4 gap junction protein, beta 4 [ Mus musculus (house mouse) ]

    Gene ID: 14621, updated on 3-Dec-2024

    Summary

    Official Symbol
    Gjb4provided by MGI
    Official Full Name
    gap junction protein, beta 4provided by MGI
    Primary source
    MGI:MGI:95722
    See related
    Ensembl:ENSMUSG00000046623 AllianceGenome:MGI:95722
    Gene type
    protein coding
    RefSeq status
    VALIDATED
    Organism
    Mus musculus
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
    Also known as
    Cxnb; Gjb-4; Cx30.3; Cnx30.3
    Summary
    Enables gap junction channel activity. Involved in cell-cell signaling and gap junction-mediated intercellular transport. Acts upstream of or within olfactory behavior and sensory perception of smell. Located in plasma membrane. Part of connexin complex. Is expressed in several structures, including early conceptus; gut; male reproductive gland or organ; metanephros; and secondary oocyte. 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, Nov 2024]
    Expression
    Biased expression in genital fat pad adult (RPKM 2.8), stomach adult (RPKM 2.7) and 8 other tissues See more
    Orthologs
    NEW
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    Genomic context

    See Gjb4 in Genome Data Viewer
    Location:
    4 D2.2; 4 61.51 cM
    Exon count:
    3
    Annotation release Status Assembly Chr Location
    RS_2024_02 current GRCm39 (GCF_000001635.27) 4 NC_000070.7 (127234892..127247929, complement)
    108.20200622 previous assembly GRCm38.p6 (GCF_000001635.26) 4 NC_000070.6 (127341109..127354139, complement)

    Chromosome 4 - NC_000070.7Genomic Context describing neighboring genes Neighboring gene gap junction protein, alpha 4 Neighboring gene gap junction protein, beta 3 Neighboring gene predicted gene, 40251 Neighboring gene STARR-seq mESC enhancer starr_11435 Neighboring gene gap junction protein, beta 5 Neighboring gene STARR-seq mESC enhancer starr_11440 Neighboring gene predicted gene 12947

    Genomic regions, transcripts, and products

    Expression

    • Project title: Mouse ENCODE transcriptome data
    • Description: RNA profiling data sets generated by the Mouse ENCODE project.
    • BioProject: PRJNA66167
    • Publication: PMID 25409824
    • Analysis date: n/a

    Bibliography

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Variation

    Alleles

    Alleles of this type are documented at Mouse Genome Informatics  (MGI)
    • Endonuclease-mediated (2) 
    • Targeted (3)  1 citation

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Gene Ontology Provided by MGI

    Function Evidence Code Pubs
    enables gap junction channel activity IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    enables gap junction channel activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    Process Evidence Code Pubs
    involved_in cell-cell signaling IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in cell-cell signaling IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in gap junction-mediated intercellular transport IDA
    Inferred from Direct Assay
    more info
    PubMed 
    acts_upstream_of_or_within olfactory behavior IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    acts_upstream_of_or_within sensory perception of smell IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    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 IDA
    Inferred from Direct Assay
    more info
    PubMed 
    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 IDA
    Inferred from Direct Assay
    more info
    PubMed 

    General protein information

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

    NCBI Reference Sequences (RefSeq)

    NEW Try the new Transcript table

    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_001420868.1NP_001407797.1  gap junction beta-4 protein isoform 2

      Status: VALIDATED

      Source sequence(s)
      AL626768
      UniProtKB/TrEMBL
      Q8C677
    2. NM_001420869.1NP_001407798.1  gap junction beta-4 protein isoform 1

      Status: VALIDATED

      Source sequence(s)
      AL626768
      UniProtKB/Swiss-Prot
      Q02738
      UniProtKB/TrEMBL
      A0A654ICD1, Q8C677
    3. NM_008127.5NP_032153.1  gap junction beta-4 protein isoform 1

      See identical proteins and their annotated locations for NP_032153.1

      Status: VALIDATED

      Source sequence(s)
      AL626768
      Consensus CDS
      CCDS18669.1
      UniProtKB/Swiss-Prot
      Q02738
      UniProtKB/TrEMBL
      A0A654ICD1, Q8C677
      Related
      ENSMUSP00000053307.2, ENSMUST00000060419.2
      Conserved Domains (1) summary
      pfam00029
      Location:2210
      Connexin

    RefSeqs of Annotated Genomes: GCF_000001635.27-RS_2024_02

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

    Reference GRCm39 C57BL/6J

    Genomic

    1. NC_000070.7 Reference GRCm39 C57BL/6J

      Range
      127234892..127247929 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_017319976.3XP_017175465.1  gap junction beta-4 protein isoform X1

      UniProtKB/TrEMBL
      Q8C677
      Conserved Domains (1) summary
      pfam00029
      Location:2210
      Connexin