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 rece... See more...

Aliases for GNB2 Gene

Aliases for GNB2 Gene

  • G Protein Subunit Beta 2 2 3 5
  • Transducin Beta Chain 2 2 3 4
  • Signal-Transducing Guanine Nucleotide-Binding Regulatory Protein Beta Subunit 2 3
  • Guanine Nucleotide Binding Protein (G Protein), Beta Polypeptide 2 2 3
  • Guanine Nucleotide-Binding Protein G(I)/G(S)/G(T) Subunit Beta-2 3 4
  • Guanine Nucleotide-Binding Protein G(I)/G(S)/G(T) Beta Subunit 2 2 3
  • G Protein, Beta-2 Subunit 2 3
  • G Protein Subunit Beta-2 3 4
  • Epididymis Secretory Sperm Binding Protein 3

External Ids for GNB2 Gene

Previous GeneCards Identifiers for GNB2 Gene

  • GC07P098805
  • GC07P099868
  • GC07P099882
  • GC07P099918
  • GC07P100110
  • GC07P100271
  • GC07P094902

Summaries for GNB2 Gene

Entrez Gene Summary for GNB2 Gene

  • 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]

GeneCards Summary for GNB2 Gene

GNB2 (G Protein Subunit Beta 2) is a Protein Coding gene. Diseases associated with GNB2 include Night Blindness, Congenital Stationary, Autosomal Dominant 2 and Ciliary Dyskinesia, Primary, 9. Among its related pathways are Signaling by GPCR and CCR5 Pathway in Macrophages. Gene Ontology (GO) annotations related to this gene include GTPase activity. An important paralog of this gene is GNB4.

UniProtKB/Swiss-Prot Summary for GNB2 Gene

  • Guanine nucleotide-binding proteins (G proteins) are involved as a modulator or transducer in various transmembrane signaling systems. The beta and gamma chains are required for the GTPase activity, for replacement of GDP by GTP, and for G protein-effector interaction.

Tocris Summary for GNB2 Gene

  • Heterotrimeric G proteins are membrane bound GTPases that are linked to 7-TM receptors. Each G protein contains an alpha-, beta- and gamma-subunit and is bound to GDP in the 'off' state. Ligand binding causes a receptor conformational change, detaching the G protein and switching it 'on'.

Gene Wiki entry for GNB2 Gene

Additional gene information for GNB2 Gene

No data available for CIViC Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for GNB2 Gene

Genomics for GNB2 Gene

GeneHancer (GH) Regulatory Elements for GNB2 Gene

Promoters and enhancers for GNB2 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH07J100672 Promoter/Enhancer 2.3 EPDnew Ensembl ENCODE CraniofacialAtlas dbSUPER 500.7 +3.4 3425 8.6 FOXK2 HNRNPK ZNF217 EP300 NRF1 MYC POLR2G USF1 SP1 BCLAF1 GNB2 GIGYF1 TRIM4 ZNF3 SRRT PPP1R35 STAG3L5P PCOLCE AP4M1 ZAN
GH07J101116 Promoter/Enhancer 2.3 EPDnew FANTOM5 Ensembl ENCODE CraniofacialAtlas dbSUPER 5.6 +450.2 450231 15.2 EP300 FOXK2 ZBTB40 CTCF TCF12 POLR2G NCOR1 JUND TEAD4 FOS SERPINE1 ENSG00000242798 GIGYF1 SRRT STAG3L5P PPP1R35 PCOLCE PCOLCE-AS1 EPHB4 MBLAC1
GH07J101136 Promoter/Enhancer 1.6 Ensembl ENCODE dbSUPER 6.2 +465.7 465671 4.9 EP300 ZBTB40 ZNF217 CTCF ZSCAN5C TCF12 POLR2G USF1 SP1 RBAK lnc-VGF-3 GIGYF1 MAP11 NAT16 GNB2 MOSPD3 SAP25 piR-57135-076 SERPINE1 RF00017-6494
GH07J100364 Promoter/Enhancer 1.7 FANTOM5 Ensembl ENCODE dbSUPER 2.1 -305.5 -305498 6.7 ZBTB40 POLR2G USF1 SP1 POLR2A CTBP1 TRIM22 NFYB ZNF341 BCL11A PILRA PILRB MEPCE AP4M1 SRRT PPP1R35 GIGYF1 ZCWPW1 ZSCAN25 STAG3L5P
GH07J101098 Enhancer 1.5 FANTOM5 ENCODE dbSUPER 1.6 +428.4 428443 6.3 ZNF217 NRF1 TCF12 POLR2G USF1 NCOR1 JUND TEAD4 FOS ZNF639 SERPINE1 VGF NAT16 MUC12 MUC3A MUC17 TRIM56 PCOLCE-AS1 MUC12-AS1 AP1S1
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around GNB2 on UCSC Golden Path with GeneCards custom track

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for GNB2

Top Transcription factor binding sites by QIAGEN in the GNB2 gene promoter:
  • ATF
  • Brachyury
  • Egr-4
  • GATA-1
  • HOXA5
  • Pax-4a
  • POU2F1
  • POU2F1a
  • RORalpha1
  • USF-1:USF-2

Genomic Locations for GNB2 Gene

Genomic Locations for GNB2 Gene
chr7:100,673,567-100,679,174
(GRCh38/hg38)
Size:
5,608 bases
Orientation:
Plus strand
chr7:100,271,154-100,276,797
(GRCh37/hg19)
Size:
5,644 bases
Orientation:
Plus strand

Genomic View for GNB2 Gene

Genes around GNB2 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
GNB2 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for GNB2 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for GNB2 Gene

Proteins for GNB2 Gene

  • Protein details for GNB2 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P62879-GBB2_HUMAN
    Recommended name:
    Guanine nucleotide-binding protein G(I)/G(S)/G(T) subunit beta-2
    Protein Accession:
    P62879
    Secondary Accessions:
    • B3KPU1
    • P11016
    • P54312

    Protein attributes for GNB2 Gene

    Size:
    340 amino acids
    Molecular mass:
    37331 Da
    Quaternary structure:
    • G proteins are composed of 3 units, alpha, beta and gamma. Interacts with ARHGEF18 and RASD2. Interacts with ATXN10. Interacts with SCN8A (PubMed:26900580).

    Alternative splice isoforms for GNB2 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for GNB2 Gene

Post-translational modifications for GNB2 Gene

  • Ubiquitination at Lys23, Lys209, and Lys301
  • Modification sites at PhosphoSitePlus

No data available for DME Specific Peptides for GNB2 Gene

Domains & Families for GNB2 Gene

Gene Families for GNB2 Gene

Suggested Antigen Peptide Sequences for GNB2 Gene

GenScript: Design optimal peptide antigens:
  • cDNA FLJ32188 fis, clone PLACE6002056, highly similar to Guanine nucleotide-binding protein G(I)/G(S)/G(T) subunit beta 2 (B3KPU1_HUMAN)
  • Transducin beta chain 2 (GBB2_HUMAN)
  • cDNA FLJ77321, highly similar to Homo sapiens guanine nucleotide binding protein (G protein), beta polypeptide 2 (GNB2), mRNA (Q6FHM2_HUMAN)

Graphical View of Domain Structure for InterPro Entry

P62879

UniProtKB/Swiss-Prot:

GBB2_HUMAN :
  • Belongs to the WD repeat G protein beta family.
Family:
  • Belongs to the WD repeat G protein beta family.
genes like me logo Genes that share domains with GNB2: view

Function for GNB2 Gene

Molecular function for GNB2 Gene

UniProtKB/Swiss-Prot Function:
Guanine nucleotide-binding proteins (G proteins) are involved as a modulator or transducer in various transmembrane signaling systems. The beta and gamma chains are required for the GTPase activity, for replacement of GDP by GTP, and for G protein-effector interaction.
GENATLAS Biochemistry:
guanine nucleotide binding protein (G protein),beta,polypeptide 2,containing a CCG repeat in 5'utr

Phenotypes From GWAS Catalog for GNB2 Gene

Gene Ontology (GO) - Molecular Function for GNB2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003924 GTPase activity TAS 2902634
GO:0005246 calcium channel regulator activity IEA --
GO:0005515 protein binding IEA,IPI 16498633
GO:0044877 protein-containing complex binding IDA 23209302
GO:0051020 GTPase binding IPI 19255495
genes like me logo Genes that share ontologies with GNB2: view
genes like me logo Genes that share phenotypes with GNB2: view

Animal Model Products

CRISPR Products

Clone Products

  • Addgene plasmids for GNB2

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for GNB2 Gene

Localization for GNB2 Gene

Subcellular locations from UniProtKB/Swiss-Prot for GNB2 Gene

Cytoplasm, perinuclear region.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for GNB2 gene
Compartment Confidence
cytosol 5
plasma membrane 4
extracellular 2
nucleus 2
cytoskeleton 1
mitochondrion 1
endoplasmic reticulum 1
lysosome 1
golgi apparatus 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Plasma membrane (3)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for GNB2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005615 extracellular space HDA 16502470
GO:0005737 cytoplasm IEA --
GO:0005765 lysosomal membrane HDA 17897319
GO:0005829 cytosol TAS --
GO:0005886 plasma membrane TAS --
genes like me logo Genes that share ontologies with GNB2: view

Pathways & Interactions for GNB2 Gene

PathCards logo

SuperPathways for GNB2 Gene

SuperPathway Contained pathways
1 Development Angiotensin activation of ERK
.73
.73
.68
.65
.54
.48
.45
.40
2 ADP signalling through P2Y purinoceptor 12
.43
3 fMLP Pathway
.44
.44
.43
.42
.39
.38
.30
4 G-Beta Gamma Signaling
.46
.46
.44
.37
.32
.30
5 Presynaptic function of Kainate receptors
.37
genes like me logo Genes that share pathways with GNB2: view

Pathways by source for GNB2 Gene

34 GeneGo (Thomson Reuters) pathways for GNB2 Gene
  • Apoptosis and survival BAD phosphorylation
  • Cell adhesion Integrin inside-out signaling
  • Chemotaxis CXCR4 signaling pathway
  • Cytoskeleton remodeling Reverse signaling by ephrin B
  • Cytoskeleton remodeling Role of PKA in cytoskeleton reorganisation
71 Qiagen pathways for GNB2 Gene
  • Actin Nucleation and Branching
  • Actin Nucleation by ARP-WASP Complex
  • Actin-Based Motility by Rho Family GTPases
  • Activation of cAMP-Dependent PKA
  • Activation of PKA through GPCR

SIGNOR curated interactions for GNB2 Gene

Activates:
Is activated by:

Gene Ontology (GO) - Biological Process for GNB2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006457 protein folding TAS --
GO:0007165 signal transduction IEA --
GO:0007186 G protein-coupled receptor signaling pathway TAS 7649993
genes like me logo Genes that share ontologies with GNB2: view

Drugs & Compounds for GNB2 Gene

(3) Drugs for GNB2 Gene - From: HMDB

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Guanosine diphosphate Experimental Pharma 0
Guanosine monophosphate Experimental Pharma 0
Guanosine triphosphate Experimental Pharma 0

(5) Additional Compounds for GNB2 Gene - From: Tocris

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
[D-Trp7,9,10]-Substance P
89430-38-6
G-Protein antagonist peptide
143675-79-0
Gue 1654
397290-30-1
mastoparan
72093-21-1
SCH 202676 hydrobromide
265980-25-4

(5) Tocris Compounds for GNB2 Gene

Compound Action Cas Number
[D-Trp7,9,10]-Substance P Inhibits M1 ACh receptor activation of Gq/11 89430-38-6
G-Protein antagonist peptide Inhibits G protein activation by GPCRs 143675-79-0
Gue 1654 Selective inhibitor of OXE-R Gbetagamma signaling 397290-30-1
Mastoparan Activates Gi and Go 72093-21-1
SCH 202676 hydrobromide Inhibitor of ligand binding to G-protein-coupled receptors 265980-25-4
genes like me logo Genes that share compounds with GNB2: view

Transcripts for GNB2 Gene

mRNA/cDNA for GNB2 Gene

1 REFSEQ mRNAs :
14 NCBI additional mRNA sequence :
13 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Clone Products

  • Addgene plasmids for GNB2

Alternative Splicing Database (ASD) splice patterns (SP) for GNB2 Gene

ExUns: 1 ^ 2 ^ 3 ^ 4a · 4b · 4c ^ 5 ^ 6 ^ 7 ^ 8 ^ 9
SP1: -
SP2:
SP3:

Relevant External Links for GNB2 Gene

GeneLoc Exon Structure for
GNB2

Expression for GNB2 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for GNB2 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for GNB2 Gene

This gene is overexpressed in Whole Blood (x6.6).

Protein differential expression in normal tissues from HIPED for GNB2 Gene

This gene is overexpressed in Frontal cortex (7.1).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for GNB2 Gene



Protein tissue co-expression partners for GNB2 Gene

- Elite partner

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for GNB2

SOURCE GeneReport for Unigene cluster for GNB2 Gene:

Hs.185172

Evidence on tissue expression from TISSUES for GNB2 Gene

  • Pancreas(4.7)
  • Skin(4.5)
  • Nervous system(4.4)
  • Lung(4.1)
  • Intestine(3.1)
  • Blood(2.9)
  • Eye(2.2)
  • Kidney(2.2)
genes like me logo Genes that share expression patterns with GNB2: view

No data available for mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for GNB2 Gene

Orthologs for GNB2 Gene

This gene was present in the common ancestor of animals.

Orthologs for GNB2 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia GNB2 31 30
  • 99.61 (n)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia GNB2 31
  • 99 (a)
OneToOne
dog
(Canis familiaris)
Mammalia GNB2 31 30
  • 94.71 (n)
OneToOne
cow
(Bos Taurus)
Mammalia GNB2 31 30
  • 94.61 (n)
OneToOne
mouse
(Mus musculus)
Mammalia Gnb2 17 31 30
  • 92.65 (n)
rat
(Rattus norvegicus)
Mammalia Gnb2 30
  • 92.16 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia -- 31
  • 74 (a)
ManyToMany
lizard
(Anolis carolinensis)
Reptilia GNB2 31
  • 95 (a)
OneToOne
zebrafish
(Danio rerio)
Actinopterygii gnb2 31 30
  • 79.9 (n)
OneToOne
fruit fly
(Drosophila melanogaster)
Insecta Gbeta13F 31
  • 81 (a)
OneToMany
G&bgr;13F 32
  • 81 (a)
G&bgr;76C 32
  • 43 (a)
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP005913 30
  • 72.35 (n)
worm
(Caenorhabditis elegans)
Secernentea gpb-1 31 32
  • 85 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea CSA.10536 31
  • 78 (a)
OneToMany
Species where no ortholog for GNB2 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • chicken (Gallus gallus)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • tropical clawed frog (Silurana tropicalis)
  • wheat (Triticum aestivum)

Evolution for GNB2 Gene

ENSEMBL:
Gene Tree for GNB2 (if available)
TreeFam:
Gene Tree for GNB2 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for GNB2: view image

Paralogs for GNB2 Gene

Paralogs for GNB2 Gene

(12) SIMAP similar genes for GNB2 Gene using alignment to 7 proteins:

  • GBB2_HUMAN
  • B3KPU1_HUMAN
  • C9JIS1_HUMAN
  • C9JXA5_HUMAN
  • C9JZN1_HUMAN
  • E7EP32_HUMAN
  • Q6FHM2_HUMAN
genes like me logo Genes that share paralogs with GNB2: view

Variants for GNB2 Gene

Additional dbSNP identifiers (rs#s) for GNB2 Gene

Structural Variations from Database of Genomic Variants (DGV) for GNB2 Gene

Variant ID Type Subtype PubMed ID
esv2664857 CNV deletion 23128226
esv2734888 CNV deletion 23290073
nsv1137588 CNV deletion 24896259
nsv365346 CNV deletion 16902084
nsv470381 CNV loss 18288195
nsv607933 CNV gain 21841781
nsv607934 CNV gain 21841781
nsv8184 CNV loss 18304495
nsv831072 CNV loss 17160897
nsv951386 CNV deletion 24416366

Variation tolerance for GNB2 Gene

Residual Variation Intolerance Score: 13.7% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 0.91; 18.87% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for GNB2 Gene

Human Gene Mutation Database (HGMD)
GNB2
SNPedia medical, phenotypic, and genealogical associations of SNPs for
GNB2

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot and Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for GNB2 Gene

Disorders for GNB2 Gene

MalaCards: The human disease database

(2) MalaCards diseases for GNB2 Gene - From: DISEASES

- elite association - COSMIC cancer census association via MalaCards
Search GNB2 in MalaCards View complete list of genes associated with diseases

Additional Disease Information for GNB2

genes like me logo Genes that share disorders with GNB2: view

No data available for UniProtKB/Swiss-Prot and Genatlas for GNB2 Gene

Publications for GNB2 Gene

  1. Ataxin 10 induces neuritogenesis via interaction with G-protein beta2 subunit. (PMID: 16498633) Waragai M … Ashizawa T (Journal of neuroscience research 2006) 3 4 23 54
  2. Large-scale sequencing of two regions in human chromosome 7q22: analysis of 650 kb of genomic sequence around the EPO and CUTL1 loci reveals 17 genes. (PMID: 9799793) Glöckner G … Rosenthal A (Genome research 1998) 2 3 4 54
  3. Pathogenic mechanism of recurrent mutations of SCN8A in epileptic encephalopathy. (PMID: 26900580) Wagnon JL … Meisler MH (Annals of clinical and translational neurology 2016) 3 4 54
  4. The cationic region of Rhes mediates its interactions with specific Gbeta subunits. (PMID: 19255495) Hill C … Davey J (Cellular physiology and biochemistry : international journal of experimental cellular physiology, biochemistry, and pharmacology 2009) 3 4 54
  5. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard DS … MGC Project Team (Genome research 2004) 3 4 54

Products for GNB2 Gene