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    Gnb4 guanine nucleotide binding protein (G protein), beta 4 [ Mus musculus (house mouse) ]

    Gene ID: 14696, updated on 27-Nov-2024

    Summary

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    Official Symbol
    Gnb4provided by MGI
    Official Full Name
    guanine nucleotide binding protein (G protein), beta 4provided by MGI
    Primary source
    MGI:MGI:104581
    See related
    Ensembl:ENSMUSG00000027669 AllianceGenome:MGI:104581
    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
    Hg2b; G(beta)4; 6720453A21Rik
    Summary
    Predicted to enable GTPase activity and signaling receptor complex adaptor activity. Predicted to be involved in G protein-coupled receptor signaling pathway. Located in myelin sheath. Part of heterotrimeric G-protein complex. Is active in synapse. Is expressed in several structures, including clavicle; eye; genitourinary system; heart valve; and nervous system. Human ortholog(s) of this gene implicated in Charcot-Marie-Tooth disease dominant intermediate F. Orthologous to human GNB4 (G protein subunit beta 4). [provided by Alliance of Genome Resources, Nov 2024]
    Expression
    Broad expression in placenta adult (RPKM 17.2), CNS E18 (RPKM 11.9) and 23 other tissues See more
    Orthologs
    human all
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    Genomic context

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    See Gnb4 in Genome Data Viewer
    Location:
    3 A3; 3 15.78 cM
    Exon count:
    13
    Annotation release Status Assembly Chr Location
    RS_2024_02 current GRCm39 (GCF_000001635.27) 3 NC_000069.7 (32632736..32670813, complement)
    108.20200622 previous assembly GRCm38.p6 (GCF_000001635.26) 3 NC_000069.6 (32578587..32616673, complement)

    Chromosome 3 - NC_000069.7Genomic Context describing neighboring genes Neighboring gene phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha Neighboring gene STARR-positive B cell enhancer ABC_E6047 Neighboring gene potassium large conductance calcium-activated channel, subfamily M, beta member 3 Neighboring gene STARR-seq mESC enhancer starr_07337 Neighboring gene STARR-positive B cell enhancer ABC_E6048 Neighboring gene STARR-seq mESC enhancer starr_07340 Neighboring gene STARR-positive B cell enhancer ABC_E2662 Neighboring gene zinc finger protein 639 Neighboring gene mitofusin 1 Neighboring gene STARR-seq mESC enhancer starr_07342 Neighboring gene STARR-seq mESC enhancer starr_07343 Neighboring gene STARR-seq mESC enhancer starr_07344 Neighboring gene STARR-seq mESC enhancer starr_07347 Neighboring gene STARR-seq mESC enhancer starr_07348 Neighboring gene STARR-positive B cell enhancer ABC_E179 Neighboring gene actin-like 6A Neighboring gene mitochondrial ribosomal protein L47

    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. Confirmation of the GNB4 gene as causal for Charcot-Marie-Tooth disease by a novel de novo mutation in a Czech patient. Laššuthová P, et al. Neuromuscul Disord, 2017 Jan. PMID 27908631
    2. Cloning, tissue distribution, and functional expression of the human G protein beta 4-subunit. Ruiz-Velasco V, et al. Physiol Genomics, 2002 Feb 11. PMID 11842130
    3. Differential modulation of N-type 1B and P/Q-type 1A calcium channels by different G protein subunit isoforms. Arnot MI, et al. J Physiol, 2000 Sep 1. PMID 10970423, Free PMC Article
    4. Influence of claustrum on cortex varies by area, layer, and cell type. McBride EG, et al. Neuron, 2023 Jan 18. PMID 36368317
    5. Organization of the connections between claustrum and cortex in the mouse. Wang Q, et al. J Comp Neurol, 2017 Apr 15. PMID 27223051, Free PMC Article

    See all (49) citations in PubMed

    GeneRIFs: Gene References Into Functions

    Variation

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    Alleles

    Alleles of this type are documented at Mouse Genome Informatics  (MGI)
    • Endonuclease-mediated (5) 
    • Targeted (2)  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 GTPase activity ISA
    Inferred from Sequence Alignment
    more info
    		 PubMed 
    enables protein-containing complex binding ISO
    Inferred from Sequence Orthology
    more info
    		 PubMed 
    enables signaling receptor complex adaptor activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    Process Evidence Code Pubs
    involved_in G protein-coupled receptor signaling pathway IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    acts_upstream_of_or_within G protein-coupled receptor signaling pathway TAS
    Traceable Author Statement
    more info
    		 PubMed 
    Component Evidence Code Pubs
    located_in cell body IEA
    Inferred from Electronic Annotation
    more info
    		  
    located_in cell body ISO
    Inferred from Sequence Orthology
    more info
    		  
    is_active_in cytoplasm IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    part_of heterotrimeric G-protein complex IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    part_of heterotrimeric G-protein complex IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    part_of heterotrimeric G-protein complex ISA
    Inferred from Sequence Alignment
    more info
    		 PubMed 
    located_in myelin sheath HDA PubMed 
    is_active_in synapse EXP
    Inferred from Experiment
    more info
    		 PubMed 
    is_active_in synapse IDA
    Inferred from Direct Assay
    more info
    		 PubMed 

    General protein information

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    Preferred Names
    guanine nucleotide-binding protein subunit beta-4
    Names
    heterotrimeric guanine nucleotide-binding protein 2b
    transducin beta chain 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_001348062.2 → NP_001334991.1  guanine nucleotide-binding protein subunit beta-4 isoform 1

      Status: VALIDATED

      Source sequence(s)
      AC130281
      Consensus CDS
      CCDS17297.1
      UniProtKB/Swiss-Prot
      P29387, Q3TJJ1, Q8R475, Q9JHX8
      UniProtKB/TrEMBL
      Q3THF3, Q3TY18, Q3U2F9
      Conserved Domains (2) summary
      cd00200
      Location:48 → 340
      WD40; WD40 domain, found in a number of eukaryotic proteins that cover a wide variety of functions including adaptor/regulatory modules in signal transduction, pre-mRNA processing and cytoskeleton assembly; typically contains a GH dipeptide 11-24 residues from ...
      sd00039
      Location:58 → 95
      7WD40; WD40 repeat [structural motif]

    2. NM_001348104.2 → NP_001335033.1  guanine nucleotide-binding protein subunit beta-4 isoform 1

      Status: VALIDATED

      Source sequence(s)
      AC130281
      Consensus CDS
      CCDS17297.1
      UniProtKB/Swiss-Prot
      P29387, Q3TJJ1, Q8R475, Q9JHX8
      UniProtKB/TrEMBL
      Q3THF3, Q3TY18, Q3U2F9
      Related
      ENSMUSP00000103869.2, ENSMUST00000108234.8
      Conserved Domains (2) summary
      cd00200
      Location:48 → 340
      WD40; WD40 domain, found in a number of eukaryotic proteins that cover a wide variety of functions including adaptor/regulatory modules in signal transduction, pre-mRNA processing and cytoskeleton assembly; typically contains a GH dipeptide 11-24 residues from ...
      sd00039
      Location:58 → 95
      7WD40; WD40 repeat [structural motif]

    3. NM_001348105.2 → NP_001335034.1  guanine nucleotide-binding protein subunit beta-4 isoform 2

      Status: VALIDATED

      Source sequence(s)
      AC130281
      UniProtKB/TrEMBL
      Q3THF3, Q3TY18, Q3U2F9
      Conserved Domains (2) summary
      cd00200
      Location:12 → 304
      WD40; WD40 domain, found in a number of eukaryotic proteins that cover a wide variety of functions including adaptor/regulatory modules in signal transduction, pre-mRNA processing and cytoskeleton assembly; typically contains a GH dipeptide 11-24 residues from ...
      sd00039
      Location:22 → 59
      7WD40; WD40 repeat [structural motif]

    4. NM_013531.6 → NP_038559.2  guanine nucleotide-binding protein subunit beta-4 isoform 1

      Status: VALIDATED

      Source sequence(s)
      AC130281
      Consensus CDS
      CCDS17297.1
      UniProtKB/Swiss-Prot
      P29387, Q3TJJ1, Q8R475, Q9JHX8
      UniProtKB/TrEMBL
      Q3THF3, Q3TY18, Q3U2F9
      Related
      ENSMUSP00000121127.2, ENSMUST00000155737.8
      Conserved Domains (2) summary
      cd00200
      Location:48 → 340
      WD40; WD40 domain, found in a number of eukaryotic proteins that cover a wide variety of functions including adaptor/regulatory modules in signal transduction, pre-mRNA processing and cytoskeleton assembly; typically contains a GH dipeptide 11-24 residues from ...
      sd00039
      Location:58 → 95
      7WD40; WD40 repeat [structural motif]

    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_000069.7 Reference GRCm39 C57BL/6J

      Range
      32632736..32670813 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_006535404.5 → XP_006535467.1  guanine nucleotide-binding protein subunit beta-4 isoform X1

      UniProtKB/TrEMBL
      E9PWM7
      Conserved Domains (2) summary
      cd00200
      Location:8 → 251
      WD40; WD40 domain, found in a number of eukaryotic proteins that cover a wide variety of functions including adaptor/regulatory modules in signal transduction, pre-mRNA processing and cytoskeleton assembly; typically contains a GH dipeptide 11-24 residues from ...
      sd00039
      Location:12 → 52
      7WD40; WD40 repeat [structural motif]
    Nucleotide Protein Strain
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    P29387.4 GenPept UniProtKB/Swiss-Prot:P29387

    Gene LinkOut

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