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

Summary

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

Location:: 7q22.1

Exon count:: 10

Annotation release	Status	Assembly	Chr	Location
RS_2023_10	current	GRCh38.p14 (GCF_000001405.40)	7	NC_000007.14 (100673740..100679169)
RS_2023_10	current	T2T-CHM13v2.0 (GCF_009914755.1)	7	NC_060931.1 (101913819..101919248)
105.20220307	previous assembly	GRCh37.p13 (GCF_000001405.25)	7	NC_000007.13 (100271363..100276792)

Chromosome 7 - NC_000007.14 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

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

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

A detailed multi-omics analysis of GNB2 gene in human cancers.
Title: A detailed multi-omics analysis of GNB2 gene in human cancers.
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.
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.
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.
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.
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.
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.
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.
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.

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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)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

Gnb2 (e-PCR), detects polymorphism
- UniSTS:496681

RH76198 (e-PCR)
- UniSTS:87172

GNB2 (e-PCR)
- UniSTS:507357

RH79834 (e-PCR)
- UniSTS:92642

RH67875 (e-PCR)
- UniSTS:16885

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 more info	PubMed
located_in extracellular space	HDA more info	PubMed
located_in focal adhesion	HDA more info	PubMed
part_of heterotrimeric G-protein complex	IBA Inferred from Biological aspect of Ancestor more info
located_in lysosomal membrane	HDA more info	PubMed
located_in membrane	HDA more info	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 more info	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)

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]