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    GNB3 G protein subunit beta 3 [ Homo sapiens (human) ]

    Gene ID: 2784, updated on 1-Mar-2024

    Summary

    Official Symbol
    GNB3provided by HGNC
    Official Full Name
    G protein subunit beta 3provided by HGNC
    Primary source
    HGNC:HGNC:4400
    See related
    Ensembl:ENSG00000111664 MIM:139130; AllianceGenome:HGNC:4400
    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
    HG2D; CSNB1H
    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 which belongs to the WD repeat G protein beta family. Beta subunits are important regulators of alpha subunits, as well as of certain signal transduction receptors and effectors. A single-nucleotide polymorphism (C825T) in this gene is associated with essential hypertension and obesity. This polymorphism is also associated with the occurrence of the splice variant GNB3-s, which appears to have increased activity. GNB3-s is an example of alternative splicing caused by a nucleotide change outside of the splice donor and acceptor sites. Alternative splicing results in multiple transcript variants. Additional alternatively spliced transcript variants of this gene have been described, but their full-length nature is not known. [provided by RefSeq, Jul 2014]
    Expression
    Ubiquitous expression in ovary (RPKM 2.1), heart (RPKM 1.9) and 23 other tissues See more
    Orthologs
    NEW
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    Try the new Transcript table

    Genomic context

    See GNB3 in Genome Data Viewer
    Location:
    12p13.31
    Exon count:
    8
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 12 NC_000012.12 (6840925..6847393)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 12 NC_060936.1 (6850217..6856691)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 12 NC_000012.11 (6950089..6956557)

    Chromosome 12 - NC_000012.12Genomic Context describing neighboring genes Neighboring gene G protein-coupled receptor 162 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr12:6936229-6936797 Neighboring gene H3K27ac hESC enhancer GRCh37_chr12:6937955-6938455 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr12:6938503-6939038 Neighboring gene prolyl 3-hydroxylase 3 Neighboring gene cell division cycle associated 3 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 4184 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 5885 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr12:6960952-6961912 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 4186 Neighboring gene ubiquitin specific peptidase 5 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr12:6974948-6975610 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr12:6975611-6976272 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 4187 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 4188 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr12:6979885-6980470 Neighboring gene triosephosphate isomerase 1 Neighboring gene splA/ryanodine receptor domain and SOCS box containing 2

    Genomic regions, transcripts, and products

    Expression

    • Project title: 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

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Phenotypes

    Associated conditions

    Description Tests
    Congenital stationary night blindness 1H
    MedGen: C4310758 OMIM: 617024 GeneReviews: Not available
    Compare labs
    Essential hypertension, genetic
    MedGen: CN305331 OMIM: 145500 GeneReviews: Not available
    Compare labs

    EBI GWAS Catalog

    Description
    Genome-wide association study identifies three common variants associated with serologic response to vitamin E supplementation in men.
    EBI GWAS Catalog

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    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 signaling receptor complex adaptor activity IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    enables spectrin binding IEA
    Inferred from Electronic Annotation
    more info
     
    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 dendrite IEA
    Inferred from Electronic Annotation
    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 plasma membrane TAS
    Traceable Author Statement
    more info
     

    General protein information

    Preferred Names
    guanine nucleotide-binding protein G(I)/G(S)/G(T) subunit beta-3
    Names
    G protein, beta-3 subunit
    GTP-binding regulatory protein beta-3 chain
    guanine nucleotide binding protein (G protein), beta polypeptide 3
    guanine nucleotide-binding protein G(I)/G(S)/G(T) beta subunit 3
    heterotrimeric guanine nucleotide-binding protein 2D
    hypertension associated protein
    transducin beta chain 3

    NCBI Reference Sequences (RefSeq)

    NEW Try the new Transcript table

    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_009100.2 RefSeqGene

      Range
      5715..12183
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001297571.2NP_001284500.1  guanine nucleotide-binding protein G(I)/G(S)/G(T) subunit beta-3 isoform 2

      See identical proteins and their annotated locations for NP_001284500.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) uses an alternate in-frame splice site, in the central coding region, compared to variant 1. The encoded isoform (2) is shorter than isoform 1.
      Source sequence(s)
      AK313091, AU143349, BC015920, U47924
      Consensus CDS
      CCDS73427.1
      UniProtKB/TrEMBL
      E9PCP0, F1T0G4
      Related
      ENSP00000414734.2, ENST00000435982.6
      Conserved Domains (2) summary
      cd00200
      Location:48339
      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:5895
      7WD40; WD40 repeat [structural motif]
    2. NM_002075.4NP_002066.1  guanine nucleotide-binding protein G(I)/G(S)/G(T) subunit beta-3 isoform 1

      See identical proteins and their annotated locations for NP_002066.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (1).
      Source sequence(s)
      AU143349, BC002454, U47924
      Consensus CDS
      CCDS8564.1
      UniProtKB/Swiss-Prot
      P16520, Q96B71, Q9BQC0
      UniProtKB/TrEMBL
      F1T0G4, F1T0G5
      Related
      ENSP00000229264.3, ENST00000229264.8
      Conserved Domains (2) summary
      cd00200
      Location:48340
      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:5895
      7WD40; WD40 repeat [structural motif]

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

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

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000012.12 Reference GRCh38.p14 Primary Assembly

      Range
      6840925..6847393
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_047428702.1XP_047284658.1  guanine nucleotide-binding protein G(I)/G(S)/G(T) subunit beta-3 isoform X1

      UniProtKB/TrEMBL
      F1T0G4
    2. XM_047428703.1XP_047284659.1  guanine nucleotide-binding protein G(I)/G(S)/G(T) subunit beta-3 isoform X2

      UniProtKB/Swiss-Prot
      P16520, Q96B71, Q9BQC0
      UniProtKB/TrEMBL
      F1T0G4, F1T0G5
    3. XM_011520953.4XP_011519255.1  guanine nucleotide-binding protein G(I)/G(S)/G(T) subunit beta-3 isoform X1

      See identical proteins and their annotated locations for XP_011519255.1

      UniProtKB/TrEMBL
      F1T0G4
      Conserved Domains (3) summary
      COG2319
      Location:49307
      WD40; WD40 repeat [General function prediction only]
      cd00200
      Location:48307
      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:5895
      7WD40; WD40 repeat [structural motif]

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060936.1 Alternate T2T-CHM13v2.0

      Range
      6850217..6856691
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054371755.1XP_054227730.1  guanine nucleotide-binding protein G(I)/G(S)/G(T) subunit beta-3 isoform X1

      UniProtKB/TrEMBL
      F1T0G4