U.S. flag

An official website of the United States government

Format

Send to:

Choose Destination

Links from GEO Profiles

    • Showing Current items.

    Gjb3 gap junction protein, beta 3 [ Mus musculus (house mouse) ]

    Gene ID: 14620, updated on 9-Dec-2024

    Summary

    Official Symbol
    Gjb3provided by MGI
    Official Full Name
    gap junction protein, beta 3provided by MGI
    Primary source
    MGI:MGI:95721
    See related
    Ensembl:ENSMUSG00000042367 AllianceGenome:MGI:95721
    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
    Cx31; Cxnc; Cnx31; Gjb-3; D4Wsu144e
    Summary
    Predicted to enable gap junction channel activity. Acts upstream of or within placenta development. Located in cytoplasm and gap junction. Is expressed in several structures, including alimentary system; early conceptus; integumental system; reproductive system; and sensory organ. Used to study erythrokeratodermia variabilis. Human ortholog(s) of this gene implicated in autosomal dominant nonsyndromic deafness 2B; autosomal recessive nonsyndromic deafness 1A; colorectal adenocarcinoma; erythrokeratodermia variabilis; and erythrokeratodermia variabilis et progressiva 1. Orthologous to human GJB3 (gap junction protein beta 3). [provided by Alliance of Genome Resources, Dec 2024]
    Expression
    Biased expression in colon adult (RPKM 31.9), placenta adult (RPKM 25.1) and 8 other tissues See more
    Orthologs
    NEW
    Try the new Gene table
    Try the new Transcript table

    Genomic context

    See Gjb3 in Genome Data Viewer
    Location:
    4 D2.2; 4 61.48 cM
    Exon count:
    3
    Annotation release Status Assembly Chr Location
    RS_2024_02 current GRCm39 (GCF_000001635.27) 4 NC_000070.7 (127219028..127224633, complement)
    108.20200622 previous assembly GRCm38.p6 (GCF_000001635.26) 4 NC_000070.6 (127325235..127330836, complement)

    Chromosome 4 - NC_000070.7Genomic Context describing neighboring genes Neighboring gene crumbs homolog 1 pseudogene Neighboring gene gap junction protein, alpha 4 Neighboring gene predicted gene, 40251 Neighboring gene STARR-seq mESC enhancer starr_11435 Neighboring gene gap junction protein, beta 4 Neighboring gene gap junction protein, beta 5

    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 (1) 
    • Targeted (5)  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 protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    Process Evidence Code Pubs
    involved_in cell communication IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in cell-cell signaling IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in cellular response to retinoic acid IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in in utero embryonic development IEA
    Inferred from Electronic Annotation
    more info
     
    acts_upstream_of_or_within placenta development IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in skin development IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in spermatogenesis IEA
    Inferred from Electronic Annotation
    more info
     
    Component Evidence Code Pubs
    located_in cell junction ISO
    Inferred from Sequence Orthology
    more info
     
    located_in cell-cell junction IDA
    Inferred from Direct Assay
    more info
    PubMed 
    part_of connexin complex IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    part_of connexin complex IEA
    Inferred from Electronic Annotation
    more info
     
    located_in cytoplasm IDA
    Inferred from Direct Assay
    more info
    PubMed 
    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 intracellular membrane-bounded organelle IEA
    Inferred from Electronic Annotation
    more info
     
    located_in intracellular membrane-bounded organelle ISO
    Inferred from Sequence Orthology
    more info
     

    General protein information

    Preferred Names
    gap junction beta-3 protein
    Names
    connexin c
    connexin-31
    gap junction membrane channel protein beta 3

    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_001160012.2NP_001153484.1  gap junction beta-3 protein

      See identical proteins and their annotated locations for NP_001153484.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) represents the longer transcript. Variants 1 and 2 encode the same protein.
      Source sequence(s)
      AL626768
      Consensus CDS
      CCDS18668.1
      UniProtKB/Swiss-Prot
      P28231
      UniProtKB/TrEMBL
      A0A654ICX2
      Related
      ENSMUSP00000046755.4, ENSMUST00000046532.4
      Conserved Domains (1) summary
      pfam00029
      Location:2211
      Connexin
    2. NM_008126.3NP_032152.1  gap junction beta-3 protein

      See identical proteins and their annotated locations for NP_032152.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) differs in the 5' UTR, compared to variant 1. Variants 1 and 2 encode the same protein.
      Source sequence(s)
      AL626768
      Consensus CDS
      CCDS18668.1
      UniProtKB/Swiss-Prot
      P28231
      UniProtKB/TrEMBL
      A0A654ICX2
      Related
      ENSMUSP00000101697.3, ENSMUST00000106091.9
      Conserved Domains (1) summary
      pfam00029
      Location:2211
      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
      127219028..127224633 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)