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

Gene ID: 14621, updated on 27-Nov-2024

Summary

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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
human all
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Genomic context

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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

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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. Connexin 30.3 is expressed in the kidney but not regulated by dietary salt or high blood pressure. Hanner F, et al. Cell Commun Adhes, 2008 May. PMID 18649192
  2. Overexpression of Gjb4 impairs cell proliferation and insulin secretion in primary islet cells. Gässler A, et al. Mol Metab, 2020 Nov. PMID 32565358, Free PMC Article
  3. Connexin30.3 is expressed in mouse embryonic stem cells and is responsive to leukemia inhibitory factor. Saito M, et al. Sci Rep, 2017 Feb 13. PMID 28205646, Free PMC Article
  4. Connexin 30 sets synaptic strength by controlling astroglial synapse invasion. Pannasch U, et al. Nat Neurosci, 2014 Apr. PMID 24584052
  5. Two gap junction genes, connexin 31.1 and 30.3, are closely linked on mouse chromosome 4 and preferentially expressed in skin. Hennemann H, et al. J Biol Chem, 1992 Aug 25. PMID 1512260

See all (32) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. Overexpression of Gjb4 impairs cell proliferation and insulin secretion in primary islet cells.
    Title: Overexpression of Gjb4 impairs cell proliferation and insulin secretion in primary islet cells.
  2. These indicate possible involvement of Cx30.3 in the rapid formation and/or decomposition of gap junctions; implying a functional relay between Cx30.3 and other systems such as adhesion proteins.
    Title: Connexin30.3 is expressed in mouse embryonic stem cells and is responsive to leukemia inhibitory factor.
  3. Cx30 regulates cell adhesion and migration; its modulation of glutamate transport occurs independently of its channel function and is mediated by morphological changes controlling insertion of astroglial processes into synaptic clefts.
    Title: Connexin 30 sets synaptic strength by controlling astroglial synapse invasion.
  4. Appears to be constitutively expressed in certain renal tubular segments and cells.
    Title: Connexin 30.3 is expressed in the kidney but not regulated by dietary salt or high blood pressure.
  5. Connexin30.3-deficient mice exhibit reduced behavioural responses to a vanilla scent.
    Title: Characterization of connexin30.3-deficient mice suggests a possible role of connexin30.3 in olfaction.
Submit: New GeneRIF Correction

Variation

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Alleles

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

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

    Status: VALIDATED

    Source sequence(s)
    AL626768

  2. NM_001420869.1 → NP_001407798.1  gap junction beta-4 protein isoform 1

    Status: VALIDATED

    Source sequence(s)
    AL626768
    UniProtKB/Swiss-Prot
    Q02738
    UniProtKB/TrEMBL
    A0A654ICD1

  3. NM_008127.5 → NP_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:2 → 210
    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_017319976.3 → XP_017175465.1  gap junction beta-4 protein isoform X1

    UniProtKB/TrEMBL
    Q8C677
    Conserved Domains (1) summary
    pfam00029
    Location:2 → 210
    Connexin
Nucleotide Protein Strain
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q02738.1 GenPept UniProtKB/Swiss-Prot:Q02738

Gene LinkOut

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