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    GNB2 G protein subunit beta 2 [ Homo sapiens (human) ]

    Gene ID: 2783, updated on 3-Nov-2024

    Summary

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    Official Symbol
    GNB2provided by HGNC
    Official Full Name
    G protein subunit beta 2provided by HGNC
    Primary source
    HGNC:HGNC:4398
    See related
    Ensembl:ENSG00000172354 MIM:139390; AllianceGenome:HGNC:4398
    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
    SSS4; HG2C1; SSS4; NEDHYDF
    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. This gene contains a trinucleotide (CCG) repeat length polymorphism in its 5' UTR. [provided by RefSeq, Jul 2008]
    Expression
    Ubiquitous expression in esophagus (RPKM 67.4), prostate (RPKM 65.4) and 25 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See GNB2 in Genome Data Viewer
    Location:
    7q22.1
    Exon count:
    10
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 7 NC_000007.14 (100673740..100679169)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 7 NC_060931.1 (101913819..101919248)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 7 NC_000007.13 (100271363..100276792)

    Chromosome 7 - NC_000007.14Genomic Context describing neighboring genes Neighboring gene actin like 6B Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr7:100246946-100247492 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr7:100247493-100248037 Neighboring gene uncharacterized LOC105375429 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 18454 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 18455 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 18456 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 26379 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 26380 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 18457 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 18458 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 26381 Neighboring gene GRB10 interacting GYF protein 1 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 18459 Neighboring gene CRISPRi-validated cis-regulatory element chr7.3567 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr7:100292979-100293782 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 26382 Neighboring gene POP7 homolog, ribonuclease P/MRP subunit

    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. Direct selection: a method for the isolation of cDNAs encoded by large genomic regions. Lovett M, et al. Proc Natl Acad Sci U S A, 1991 Nov 1. PMID 1946378, Free PMC Article
    2. A novel somatic mutation in GNB2 provides new insights to the pathogenesis of Sturge-Weber syndrome. Fjær R, et al. Hum Mol Genet, 2021 Oct 13. PMID 34124757, Free PMC Article
    3. A detailed multi-omics analysis of GNB2 gene in human cancers. Zhang L, et al. Braz J Biol, 2022. PMID 35730811
    4. A Mutation in the G-Protein Gene GNB2 Causes Familial Sinus Node and Atrioventricular Conduction Dysfunction. Stallmeyer B, et al. Circ Res, 2017 May 12. PMID 28219978
    5. Distinct forms of the beta subunit of GTP-binding regulatory proteins identified by molecular cloning. Fong HK, et al. Proc Natl Acad Sci U S A, 1987 Jun. PMID 3108879, Free PMC Article

    See all (173) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. A detailed multi-omics analysis of GNB2 gene in human cancers.
      Title: A detailed multi-omics analysis of GNB2 gene in human cancers.
    2. A novel somatic mutation in GNB2 provides new insights to the pathogenesis of Sturge-Weber syndrome.
      Title: A novel somatic mutation in GNB2 provides new insights to the pathogenesis of Sturge-Weber syndrome.
    3. A GNB2 gene mutation is associated with familial sinus node and atrioventricular conduction dysfunction.
      Title: A Mutation in the G-Protein Gene GNB2 Causes Familial Sinus Node and Atrioventricular Conduction Dysfunction.
    4. GNB1 and GNB2 alterations confer transformed and resistance phenotypes across a range of human tumors and may be targetable with inhibitors of G protein signaling.
      Title: Mutations in G protein β subunits promote transformation and kinase inhibitor resistance.
    5. MIF and GNbeta2 interacted with influenza A H1N1 virus PB1-F2 protein.
      Title: Identification of cellular proteins interacting with influenza A virus PB1-F2 protein.
    6. Results indicate that G protein beta2 (Gbeta2) is required for starvation-induced NF-kappaB activation and constitutive NF-kappaB activity.
      Title: Serum starvation activates NF-κB through G protein β2 subunit-mediated signal.
    7. This protein has been found differentially expressed in the anterior cingulate cortex from patients with schizophrenia
      Title: Sex-specific proteome differences in the anterior cingulate cortex of schizophrenia.
    8. Recombinant Gbetagamma subunits were used to establish that the Gbeta(2)gamma(2) dimer can selectively reconstitute the inhibition of alpha(1H) channels in isolated membrane patches.
      Title: The molecular basis for T-type Ca2+ channel inhibition by G protein beta2gamma2 subunits.
    9. We conclude that the Gbetagamma complex interacts with the GR and suppresses its transcriptional activity by associating with the transcriptional complex formed on GR-responsive promoters.
      Title: G protein beta interacts with the glucocorticoid receptor and suppresses its transcriptional activity in the nucleus.
    Submit: New GeneRIF Correction

    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
    Neurodevelopmental disorder with hypotonia and dysmorphic facies
    MedGen: C5561974 OMIM: 619503 GeneReviews: Not available
    		not available
    Sick sinus syndrome 4
    MedGen: C5561949 OMIM: 619464 GeneReviews: Not available
    		not available

    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 GTPase activity TAS
    Traceable Author Statement
    more info
    		 PubMed 
    enables GTPase binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    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 regulation of potassium ion transmembrane transport IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    Component Evidence Code Pubs
    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 
    located_in extracellular space HDA PubMed 
    located_in focal adhesion 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 membrane HDA PubMed 
    located_in perinuclear region of cytoplasm IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in plasma membrane IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in vesicle HDA PubMed 

    General protein information

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    Preferred Names
    guanine nucleotide-binding protein G(I)/G(S)/G(T) subunit beta-2
    Names
    G protein, beta-2 subunit
    epididymis secretory sperm binding protein
    g protein subunit beta-2
    guanine nucleotide binding protein (G protein), beta polypeptide 2
    guanine nucleotide-binding protein G(I)/G(S)/G(T) beta subunit 2
    heterotrimeric guanine nucleotide-binding protein 2C1
    signal-transducing guanine nucleotide-binding regulatory protein beta subunit
    transducin beta chain 2

    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_005273.4 → NP_005264.2  guanine nucleotide-binding protein G(I)/G(S)/G(T) subunit beta-2

      See identical proteins and their annotated locations for NP_005264.2

      Status: REVIEWED

      Source sequence(s)
      AK291592, AL535249, BC012348, BM763069, CV569909
      Consensus CDS
      CCDS5703.1
      UniProtKB/Swiss-Prot
      B3KPU1, P11016, P54312, P62879
      UniProtKB/TrEMBL
      Q6FHM2
      Related
      ENSP00000305260.4, ENST00000303210.9
      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_000007.14 Reference GRCh38.p14 Primary Assembly

      Range
      100673740..100679169
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060931.1 Alternate T2T-CHM13v2.0

      Range
      101913819..101919248
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    P62879.3 GenPept UniProtKB/Swiss-Prot:P62879

    Gene LinkOut

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

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