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

    Gene ID: 14620, updated on 14-May-2024

    Summary

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    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; erythrokeratodermia variabilis; and erythrokeratodermia variabilis et progressiva 1. Orthologous to human GJB3 (gap junction protein beta 3). [provided by Alliance of Genome Resources, Apr 2022]
    Expression
    Biased expression in colon adult (RPKM 31.9), placenta adult (RPKM 25.1) and 8 other tissues See more
    Orthologs
    human all
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    Genomic context

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    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

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • 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

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    Related articles in PubMed

    1. Segment-specific expression of the gap junction gene connexin31 during hindbrain development. Dahl E, et al. Dev Genes Evol, 1997 Nov. PMID 27747433
    2. Connexin 31 (GJB3) deficiency in mouse trophoblast stem cells alters giant cell differentiation and leads to loss of oxygen sensing. Koch Y, et al. Biol Reprod, 2012 Aug. PMID 22623621
    3. Connexin31-deficient trophoblast stem cells: a model to analyze the role of gap junction communication in mouse placental development. Kibschull M, et al. Dev Biol, 2004 Sep 1. PMID 15302598
    4. Exchange of serine residues 263 and 266 reduces the function of mouse gap junction protein connexin31 and exhibits a dominant-negative effect on the wild-type protein in HeLa cells. Diestel S, et al. Exp Cell Res, 2004 Apr 1. PMID 15023533
    5. Expression of the mouse gap junction gene Gjb3 is regulated by distinct mechanisms in embryonic stem cells and keratinocytes. Plum A, et al. Genomics, 2002 Jan. PMID 11827454

    See all (75) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Comparative Analysis of Cx31 and Cx43 in Differentiation-Competent Rodent Keratinocytes.
      Title: Comparative Analysis of Cx31 and Cx43 in Differentiation-Competent Rodent Keratinocytes.
    2. Prostaglandin E stimulates Connexin isoforms via GSK-3beta/beta-catenin via EP2-receptor-dependent cAMP/PKA and PI3K/Akt in mouse embryonic stem cells.
      Title: Prostaglandin E₂ maintains mouse ESC undifferentiated state through regulation of connexin31, connexin43 and connexin45 expression: involvement of glycogen synthase kinase 3β/β-catenin.
    3. Connexin 31-deficient trophoblast stem cells revealed a shift in giant cell differentiation from Prl3d1 expressing parietal giant cells to Ctsq, Prl3b1, and Prl2c2-positive giant cells.
      Title: Connexin 31 (GJB3) deficiency in mouse trophoblast stem cells alters giant cell differentiation and leads to loss of oxygen sensing.
    4. During trophoblast cell lineage differentiation, the Cx31 gap junction channel is involved in maintaining the proliferative diploid trophoblast cell population.
      Title: Connexin31-deficient trophoblast stem cells: a model to analyze the role of gap junction communication in mouse placental development.
    5. Mutant cx31 showed reduced phosphorylation levels compared to Cx31 wild type, indicating a pivotal role of serine residue 266 for Cx31 phosphorylation, but didn't interfere with correct intracellular trafficking of gap junction proteins.
      Title: Exchange of serine residues 263 and 266 reduces the function of mouse gap junction protein connexin31 and exhibits a dominant-negative effect on the wild-type protein in HeLa cells.
    6. Expression profile of the Gjb3 in the developing mouse cochlea
      Title: Expression profiles of the connexin genes, Gjb1 and Gjb3, in the developing mouse cochlea.
    7. Expression is regulated by distinct mechanisms in embryonic stem cells and keratinocytes.
      Title: Expression of the mouse gap junction gene Gjb3 is regulated by distinct mechanisms in embryonic stem cells and keratinocytes.
    8. Cx31/Cx43 double-deficient mice exhibit the known phenotypes of the single-knockout strains but no combined effects
      Title: Cx31 and Cx43 double-deficient mice reveal independent functions in murine placental and skin development.
    9. Cx31 and Cx43 proteins functionally interact, possibly by forming heteromeric channels in the epidermis.
      Title: The connexin31 F137L mutant mouse as a model for the human skin disease erythrokeratodermia variabilis (EKV).
    Submit: New GeneRIF Correction

    Variation

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    Alleles

    Alleles of this type are documented at Mouse Genome Informatics  (MGI)
    • Endonuclease-mediated (1) 
    • Targeted (5)  1 citation

    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 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
    		  
    acts_upstream_of_or_within placenta development IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    Component Evidence Code Pubs
    located_in anchoring junction IEA
    Inferred from Electronic Annotation
    more info
    		  
    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
    		  
    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 ISO
    Inferred from Sequence Orthology
    more info
    		  
    located_in membrane IEA
    Inferred from Electronic Annotation
    more info
    		  
    located_in plasma membrane IEA
    Inferred from Electronic Annotation
    more info
    		  

    General protein information

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

    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_001160012.2 → NP_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:2 → 211
      Connexin

    2. NM_008126.3 → NP_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:2 → 211
      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)
    Nucleotide Protein Strain
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    P28231.1 GenPept UniProtKB/Swiss-Prot:P28231

    Gene LinkOut

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

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