U.S. flag

An official website of the United States government

Format

Send to:

Choose Destination

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

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

Summary

Go to the top of the page Help
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
NEW
Try the new Gene table
Try the new Transcript table

Genomic context

Go to the top of the page Help
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

Go to the top of the page Help

Go to nucleotide: Graphics FASTA GenBank

Expression

Go to the top of the page Help
  • 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

Go to the top of the pageHelp

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

Go to the top of the page Help

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

Go to the top of the page Help

See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Genotypes

Pathways from PubChem

Go to the top of the page

Interactions

Go to the top of the page Help
Products Interactant Other Gene Complex Source Pubs Description

General gene information

Go to the top of the page Help

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

Go to the top of the page Help
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)

Go to the top of the page Help

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.

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.

Chemical Information
Molecular Biology Databases
Research Materials
Tools
Miscellaneous