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

Gene ID: 14696, updated on 13-Apr-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 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, Apr 2022]
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. Influence of claustrum on cortex varies by area, layer, and cell type. McBride EG, et al. Neuron, 2023 Jan 18. PMID 36368317
  3. 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
  4. 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
  5. 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

See all (45) 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)
  • Targeted (2)  1 citation
  • Endonuclease-mediated (5) 

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 
acts_upstream_of_or_within signal transduction IEA
Inferred from Electronic Annotation
more info
  
involved_in signal transduction IEA
Inferred from Electronic Annotation
more info
  
Component Evidence Code Pubs
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

    See identical proteins and their annotated locations for NP_038559.2

    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

    See identical proteins and their annotated locations for XP_006535467.1

    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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