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    GNB4 G protein subunit beta 4 [ Homo sapiens (human) ]

    Gene ID: 59345, updated on 3-Nov-2024

    Summary

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    Official Symbol
    GNB4provided by HGNC
    Official Full Name
    G protein subunit beta 4provided by HGNC
    Primary source
    HGNC:HGNC:20731
    See related
    Ensembl:ENSG00000114450 MIM:610863; AllianceGenome:HGNC:20731
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    HG2B; CMTD1F
    Summary
    Heterotrimeric guanine nucleotide-binding proteins (G proteins), which integrate signals between receptors and effector proteins, are composed of an alpha, a beta, and a gamma subunit. These subunits are encoded by families of related genes. This gene encodes a beta subunit. Beta subunits are important regulators of alpha subunits, as well as of certain signal transduction receptors and effectors. [provided by RefSeq, Jul 2008]
    Expression
    Ubiquitous expression in skin (RPKM 14.7), appendix (RPKM 12.1) and 24 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See GNB4 in Genome Data Viewer
    Location:
    3q26.33
    Exon count:
    14
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 3 NC_000003.12 (179396088..179527798, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 3 NC_060927.1 (182199923..182331637, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 3 NC_000003.11 (179113876..179169258, complement)

    Chromosome 3 - NC_000003.12Genomic Context describing neighboring genes Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 14915 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 14916 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 20864 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 20865 Neighboring gene zinc finger protein 639 Neighboring gene H3K27ac hESC enhancer GRCh37_chr3:179065206-179065735 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 14917 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 20866 Neighboring gene mitofusin 1 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 20867 Neighboring gene ReSE screen-validated silencer GRCh37_chr3:179160994-179161145 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 14918 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 14919 Neighboring gene ReSE screen-validated silencer GRCh37_chr3:179178405-179178606 Neighboring gene translation machinery-associated protein 7-like Neighboring gene ribosomal protein L29 pseudogene 34 Neighboring gene methylenetetrahydrofolate dehydrogenase (NADP+ dependent) 2, methenyltetrahydrofolate cyclohydrolase pseudogene 7 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr3:179244611-179245161 Neighboring gene Sharpr-MPRA regulatory region 7561 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 14920 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 14921 Neighboring gene uncharacterized LOC124909462 Neighboring gene actin like 6A Neighboring gene H3K27ac hESC enhancer GRCh37_chr3:179321716-179322582 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: HPA RNA-seq normal tissues HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Apr 4 07:08:55 2018

    Bibliography

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    Related articles in PubMed

    1. Guanine nucleotide-binding protein subunit beta-4 promotes gastric cancer progression via activating Erk1/2. Gao J, et al. Acta Biochim Biophys Sin (Shanghai), 2020 Sep 8. PMID 32747927
    2. Selectively enhanced cellular signaling by Gi proteins in essential hypertension. G alpha i2, G alpha i3, G beta 1, and G beta 2 are not mutated. Pietruck F, et al. Circ Res, 1996 Nov. PMID 8888689
    3. Helicobacter pylori-induced aberrant demethylation and expression of GNB4 promotes gastric carcinogenesis via the Hippo-YAP1 pathway. Liu D, et al. BMC Med, 2023 Apr 5. PMID 37016382, Free PMC Article
    4. A novel missense variant (Gln220Arg) of GNB4 encoding guanine nucleotide-binding protein, subunit beta-4 in a Japanese family with autosomal dominant motor and sensory neuropathy. Miura S, et al. Eur J Med Genet, 2017 Sep. PMID 28642160
    5. Exome sequencing identifies GNB4 mutations as a cause of dominant intermediate Charcot-Marie-Tooth disease. Soong BW, et al. Am J Hum Genet, 2013 Mar 7. PMID 23434117, Free PMC Article

    See all (93) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Plasma methylated GNB4 and Riplet as a novel dual-marker panel for the detection of hepatocellular carcinoma.
      Title: Plasma methylated GNB4 and Riplet as a novel dual-marker panel for the detection of hepatocellular carcinoma.
    2. Helicobacter pylori-induced aberrant demethylation and expression of GNB4 promotes gastric carcinogenesis via the Hippo-YAP1 pathway.
      Title: Helicobacter pylori-induced aberrant demethylation and expression of GNB4 promotes gastric carcinogenesis via the Hippo-YAP1 pathway.
    3. Prognostic and Immunological Value of GNB4 in Gastric Cancer by Analyzing TCGA Database.
      Title: Prognostic and Immunological Value of GNB4 in Gastric Cancer by Analyzing TCGA Database.
    4. High G protein subunit beta 4 protein level is correlated to poor prognosis of urothelial carcinoma.
      Title: High G protein subunit beta 4 protein level is correlated to poor prognosis of urothelial carcinoma.
    5. Guanine nucleotide-binding protein subunit beta-4 promotes gastric cancer progression via activating Erk1/2.
      Title: Guanine nucleotide-binding protein subunit beta-4 promotes gastric cancer progression via activating Erk1/2.
    6. GNB4 is important for growth of breast cancer cells and a potential target for treatment
      Title: A suppressive role of guanine nucleotide-binding protein subunit beta-4 inhibited by DNA methylation in the growth of anti-estrogen resistant breast cancer cells.
    7. A novel missense GNB4 variant causes Charcot-Marie-Tooth disease F in two patients, who represent the first record of the disease in the Japanese population.
      Title: A novel missense variant (Gln220Arg) of GNB4 encoding guanine nucleotide-binding protein, subunit beta-4 in a Japanese family with autosomal dominant motor and sensory neuropathy.
    8. Suggest Gbeta4gamma1 as a modulator of M3 muscarinic receptor signaling.
      Title: Gβ4γ1 as a modulator of M3 muscarinic receptor signalling and novel roles of Gβ1 subunits in the modulation of cellular signalling.
    9. Analysis of GNB4 in an additional 88 unrelated CMT individuals uncovered another de novo mutation.
      Title: Exome sequencing identifies GNB4 mutations as a cause of dominant intermediate Charcot-Marie-Tooth disease.
    10. Intron-1 haplotypes of GNB4 is associated with colorectal carcinoma.
      Title: Association of GNB4 intron-1 haplotypes with survival in patients with UICC stage III and IV colorectal carcinoma.
    Submit: New GeneRIF Correction See all GeneRIFs (14)

    Phenotypes

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    Find tests for this gene in the NIH Genetic Testing Registry (GTR)

    Review eQTL and phenotype association data in this region using PheGenI

    Associated conditions

    Description Tests
    Charcot-Marie-Tooth disease dominant intermediate F
    MedGen: C4749463 OMIM: 615185 GeneReviews: Not available
    		Compare labs

    EBI GWAS Catalog

    Description
    Identification of heart rate-associated loci and their effects on cardiac conduction and rhythm disorders.
    EBI GWAS Catalog

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Genotypes

    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 GOA

    Function Evidence Code Pubs
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    enables protein-containing complex binding IDA
    Inferred from Direct Assay
    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
    		  
    involved_in substantia nigra development HEP PubMed 
    Component Evidence Code Pubs
    located_in cell body IEA
    Inferred from Electronic Annotation
    more info
    		  
    is_active_in cytoplasm IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in cytosol TAS
    Traceable Author Statement
    more info
    		  
    located_in extracellular exosome HDA PubMed 
    part_of heterotrimeric G-protein complex IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in lysosomal membrane HDA PubMed 
    located_in synapse IEA
    Inferred from Electronic Annotation
    more info
    		  

    General protein information

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    Preferred Names
    guanine nucleotide-binding protein subunit beta-4
    Names
    G protein beta-4 subunit
    guanine nucleotide binding protein (G protein), beta polypeptide 4
    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.

    Genomic

    1. NG_033163.1 RefSeqGene

      Range
      5114..60496
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_021629.4 → NP_067642.1  guanine nucleotide-binding protein subunit beta-4

      See identical proteins and their annotated locations for NP_067642.1

      Status: REVIEWED

      Source sequence(s)
      AC007620
      Consensus CDS
      CCDS3230.1
      UniProtKB/Swiss-Prot
      B3KMH5, D3DNR8, Q9HAV0
      UniProtKB/TrEMBL
      A8K3F6
      Related
      ENSP00000232564.3, ENST00000232564.8
      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_000001405.40-RS_2024_08

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000003.12 Reference GRCh38.p14 Primary Assembly

      Range
      179396088..179527798 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_047448654.1 → XP_047304610.1  guanine nucleotide-binding protein subunit beta-4 isoform X1

      UniProtKB/Swiss-Prot
      B3KMH5, D3DNR8, Q9HAV0

    2. XM_047448653.1 → XP_047304609.1  guanine nucleotide-binding protein subunit beta-4 isoform X1

      UniProtKB/Swiss-Prot
      B3KMH5, D3DNR8, Q9HAV0

    3. XM_006713721.3 → XP_006713784.1  guanine nucleotide-binding protein subunit beta-4 isoform X1

      See identical proteins and their annotated locations for XP_006713784.1

      UniProtKB/Swiss-Prot
      B3KMH5, D3DNR8, Q9HAV0
      UniProtKB/TrEMBL
      A8K3F6
      Related
      ENSP00000501882.1, ENST00000676128.1
      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]

    4. XM_005247692.3 → XP_005247749.1  guanine nucleotide-binding protein subunit beta-4 isoform X1

      See identical proteins and their annotated locations for XP_005247749.1

      UniProtKB/Swiss-Prot
      B3KMH5, D3DNR8, Q9HAV0
      UniProtKB/TrEMBL
      A8K3F6
      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]

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060927.1 Alternate T2T-CHM13v2.0

      Range
      182199923..182331637 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054347425.1 → XP_054203400.1  guanine nucleotide-binding protein subunit beta-4 isoform X1

      UniProtKB/Swiss-Prot
      B3KMH5, D3DNR8, Q9HAV0

    2. XM_054347424.1 → XP_054203399.1  guanine nucleotide-binding protein subunit beta-4 isoform X1

      UniProtKB/Swiss-Prot
      B3KMH5, D3DNR8, Q9HAV0

    3. XM_054347427.1 → XP_054203402.1  guanine nucleotide-binding protein subunit beta-4 isoform X1

      UniProtKB/Swiss-Prot
      B3KMH5, D3DNR8, Q9HAV0

    4. XM_054347426.1 → XP_054203401.1  guanine nucleotide-binding protein subunit beta-4 isoform X1

      UniProtKB/Swiss-Prot
      B3KMH5, D3DNR8, Q9HAV0
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q9HAV0.3 GenPept UniProtKB/Swiss-Prot:Q9HAV0

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