Aliases for GNB3 Gene
Aliases for GNB3 Gene
- G Protein Subunit Beta 3 2 3 5
- Transducin Beta Chain 3 2 3 4
- Guanine Nucleotide Binding Protein (G Protein), Beta Polypeptide 3 2 3
- Guanine Nucleotide-Binding Protein G(I)/G(S)/G(T) Beta Subunit 3 3
- Guanine Nucleotide-Binding Protein G(I)/G(S)/G(T) Subunit Beta-3 3
- GTP-Binding Regulatory Protein Beta-3 Chain 3
- Hypertension Associated Protein 3
- G Protein, Beta-3 Subunit 3
- CSNB1H 3
External Ids for GNB3 Gene
- HGNC: 4400
- Entrez Gene: 2784
- Ensembl: ENSG00000111664
- OMIM: 139130
- UniProtKB: P16520
Previous GeneCards Identifiers for GNB3 Gene
- GC12M007019
- GC12M007103
- GC12P006828
- GC12P006819
- GC12P006977
- GC12P006981
- GC12P006808
- GC12P006989
- GC12P007001
- GC12P007010
- GC12P007021
- GC12P007045
- GC12P007109
- GC12P007133
Summaries for GNB3 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 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]
GeneCards Summary for GNB3 Gene
GNB3 (G Protein Subunit Beta 3) is a Protein Coding gene. Diseases associated with GNB3 include Night Blindness, Congenital Stationary, Type 1H and Hypertension, Essential. Among its related pathways are Presynaptic function of Kainate receptors and Peptide hormone metabolism. Gene Ontology (GO) annotations related to this gene include GTPase activity and spectrin binding. An important paralog of this gene is GNB1.
UniProtKB/Swiss-Prot for GNB3 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.
-
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'.
Additional gene information for GNB3 Gene
- Monarch Initiative
- Search for GNB3 at DataMed
- Search for GNB3 at HumanCyc
No data available for CIViC summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for GNB3 Gene
Genomics for GNB3 Gene
GeneHancer (GH) Regulatory Elements for GNB3 Gene
- Top Transcription factor binding sites by QIAGEN in the GNB3 gene promoter:
Regulatory Element Products
Genomic Locations for GNB3 Gene
- chr12:6,839,954-6,847,395
- (GRCh38/hg38)
- Size:
- 7,442 bases
- Orientation:
- Plus strand
- chr12:6,949,118-6,956,557
- (GRCh37/hg19)
Genomic View for GNB3 Gene
- Cytogenetic band:
-
- 12p13.31 by Ensembl
- 12p13.31 by Entrez Gene
- 12p13.31 by HGNC


RefSeq DNA sequence for GNB3 Gene
Proteins for GNB3 Gene
-
Protein details for GNB3 Gene (UniProtKB/Swiss-Prot)
- Protein Symbol:
- P16520-GBB3_HUMAN
- Recommended name:
- Guanine nucleotide-binding protein G(I)/G(S)/G(T) subunit beta-3
- Protein Accession:
- P16520
- Q96B71
- Q9BQC0
Protein attributes for GNB3 Gene
- Size:
- 340 amino acids
- Molecular mass:
- 37221 Da
- Quaternary structure:
-
- G proteins are composed of 3 units, alpha, beta and gamma. Interacts with RASD2.
Protein Expression for GNB3 Gene
Post-translational modifications for GNB3 Gene
Other Protein References for GNB3 Gene
- ENSEMBL proteins:
- REFSEQ proteins:
Antibody Products
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-
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-
Abcam proteins for GNB3
Assay Products
No data available for DME Specific Peptides for GNB3 Gene
Domains & Families for GNB3 Gene
Gene Families for GNB3 Gene
- HGNC:
- Human Protein Atlas (HPA):
-
- Disease related genes
- Plasma proteins
- Predicted intracellular proteins
Protein Domains for GNB3 Gene
Suggested Antigen Peptide Sequences for GNB3 Gene
Graphical View of Domain Structure for InterPro Entry
P16520- Family:
-
- Belongs to the WD repeat G protein beta family.
Function for GNB3 Gene
Molecular function for GNB3 Gene
- GENATLAS Biochemistry:
- guanine nucleotide binding protein (G protein),beta,polypeptide 3,with a shortened splice variant GNB3-s associated with essential hypertension and susceptibility factor in obesity in Inuits with the 825TT variant
- 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.
Phenotypes From GWAS Catalog for GNB3 Gene
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0003924 | GTPase activity | TAS | 9425898 |
GO:0004871 | signal transducer activity | IEA | -- |
GO:0005515 | protein binding | IPI | 23773523 |
GO:0030507 | spectrin binding | IEA | -- |
GO:0051020 | GTPase binding | IPI | 19255495 |
Phenotypes for GNB3 Gene
- MGI mutant phenotypes for GNB3:
- inferred from 1 alleles
- GenomeRNAi human phenotypes for GNB3:
Animal Models for GNB3 Gene
- MGI Knock Outs for GNB3:
-
- Gnb3 tm1(KOMP)Vlcg
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-
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-
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miRNA for GNB3 Gene
- miRTarBase miRNAs that target GNB3
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-
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-
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No data available for Enzyme Numbers (IUBMB) , Transcription Factor Targets and HOMER Transcription for GNB3 Gene
Localization for GNB3 Gene
- Golgi apparatus (2)
- Plasma membrane (2)
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0005829 | cytosol | TAS | -- |
GO:0005886 | plasma membrane | TAS | -- |
GO:0030425 | dendrite | IEA | -- |
GO:0043005 | neuron projection | IEA | -- |
GO:0044297 | cell body | IEA | -- |
No data available for Subcellular locations from UniProtKB/Swiss-Prot for GNB3 Gene
Pathways & Interactions for GNB3 Gene
SuperPathway | Contained pathways | ||
---|---|---|---|
1 | Development Angiotensin activation of ERK | ||
2 | ADP signalling through P2Y purinoceptor 12 | ||
3 | fMLP Pathway |
.43
|
.39
|
4 | G-Beta Gamma Signaling |
.46
.44
|
.37
|
5 | Presynaptic function of Kainate receptors |
Pathways by source for GNB3 Gene
2 Cell Signaling Technology pathways for GNB3 Gene
6 BioSystems pathways for GNB3 Gene
58 Reactome pathways for GNB3 Gene
2 PharmGKB pathways for GNB3 Gene
17 KEGG pathways for GNB3 Gene
34 GeneGo (Thomson Reuters) pathways for GNB3 Gene
Interacting Proteins for GNB3 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 | 2107550 |
GO:0008217 | regulation of blood pressure | TAS | 9425898 |
GO:0071377 | cellular response to glucagon stimulus | TAS | -- |
Drugs & Compounds for GNB3 Gene
Name | Status | Disease Links | Group | Role | Mechanism of Action | Clinical Trials |
---|---|---|---|---|---|---|
Clonidine | Approved | Pharma | Partial agonist, Agonist | 250 | ||
Atenolol | Approved | Pharma | Antagonist | 108 | ||
Bumetanide | Approved | Pharma | Agonist | NKCC cotransporter inhibitor, Na+/2Cl-/K+ (NKCC) symporter inhibitor | 19 | |
Furosemide | Approved, Vet_approved | Pharma | Agonist | GABAA receptors antagonist, Na+/2Cl-/K+ (NKCC) symporter inhibitor. Also antagonizes GABAA | 209 | |
Hydralazine | Approved | Pharma | 46 |
Name | Synonyms | Role | CAS Number | PubChem IDs | PubMed IDs | |
---|---|---|---|---|---|---|
G-Protein antagonist peptide |
|
143675-79-0 |
|
|
(5) Tocris Compounds for GNB3 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 |
Transcripts for GNB3 Gene
mRNA/cDNA for GNB3 Gene
- (3) REFSEQ mRNAs :
- (11) Additional mRNA sequences :
- (9) Selected AceView cDNA sequences:
- (9) Ensembl transcripts including schematic representations, and UCSC links where relevant :
Unigene Clusters for GNB3 Gene
CRISPR Products
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-
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Inhibitory RNA Products
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-
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- Mammalian shRNA knockdown: lentiviral, adenoviral, AAV, and PiggyBac
- CRISPR: plasmid gRNA, lentiviral gRNA, and donor plasmid
- Bacterial expression: pET, pBAD, and pCS
- Yeast expression
- Addgene plasmids for GNB3
- Applied Biological Materials Clones for GNB3
-
Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more
ExUns: | 1a | · | 1b | · | 1c | · | 1d | · | 1e | ^ | 2 | ^ | 3 | ^ | 4 | ^ | 5a | · | 5b | ^ | 6 | ^ | 7a | · | 7b | ^ | 8a | · | 8b | ^ | 9 | ^ | 10 | ^ | 11a | · | 11b | ^ | 12 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
SP1: | - | - | - | ||||||||||||||||||||||||||||||||||||
SP2: | - | - | - | - | |||||||||||||||||||||||||||||||||||
SP3: | - | - | - | ||||||||||||||||||||||||||||||||||||
SP4: | - | - | |||||||||||||||||||||||||||||||||||||
SP5: | - | ||||||||||||||||||||||||||||||||||||||
SP6: | - | ||||||||||||||||||||||||||||||||||||||
SP7: |
Expression for GNB3 Gene
mRNA expression in embryonic tissues and stem cells from LifeMap Discovery
- Brain (Nervous System)
-
Neurons
- Mature Rod Bipolar Cells Inner Nuclear Layer
- Midbrain dopaminergic-like neurons(Kriks S et. al. 2011)
-
Eye (Sensory Organs)
- Mature Rod Bipolar Cells Inner Nuclear Layer
- Thyroid (Endocrine System)
- Intestine (Gastrointestinal Tract)
- Ovary (Reproductive System)
mRNA differential expression in normal tissues according to GTEx for GNB3 Gene
Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, and MOPED for GNB3 Gene
NURSA nuclear receptor signaling pathways regulating expression of GNB3 Gene:
GNB3SOURCE GeneReport for Unigene cluster for GNB3 Gene:
Hs.631657Evidence on tissue expression from TISSUES for GNB3 Gene
- Eye(4.9)
- Nervous system(4.3)
- Blood(2.4)
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-
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No data available for mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for GNB3 Gene
Orthologs for GNB3 Gene
This gene was present in the common ancestor of animals.
Organism | Taxonomy | Gene | Similarity | Type | Details |
---|---|---|---|---|---|
chimpanzee (Pan troglodytes) |
Mammalia | GNB3 34 33 |
|
OneToOne | |
oppossum (Monodelphis domestica) |
Mammalia | GNB3 34 |
|
OneToOne | |
cow (Bos Taurus) |
Mammalia | GNB3 34 33 |
|
OneToOne | |
dog (Canis familiaris) |
Mammalia | GNB3 34 33 |
|
OneToOne | |
rat (Rattus norvegicus) |
Mammalia | Gnb3 33 |
|
||
mouse (Mus musculus) |
Mammalia | Gnb3 16 34 33 |
|
||
platypus (Ornithorhynchus anatinus) |
Mammalia | GNB3 34 |
|
OneToOne | |
chicken (Gallus gallus) |
Aves | GNB3 33 |
|
||
lizard (Anolis carolinensis) |
Reptilia | GNB3 34 |
|
OneToOne | |
tropical clawed frog (Silurana tropicalis) |
Amphibia | gnb3 33 |
|
||
zebrafish (Danio rerio) |
Actinopterygii | gnb3a 33 |
|
||
fruit fly (Drosophila melanogaster) |
Insecta | Gbgr13F 35 |
|
|
|
Gbeta13F 34 |
|
OneToMany | |||
Gbgr76C 35 |
|
|
|||
worm (Caenorhabditis elegans) |
Secernentea | gpb-1 35 34 |
|
||
sea squirt (Ciona savignyi) |
Ascidiacea | CSA.10536 34 |
|
OneToMany |
- Species where no ortholog for GNB3 was found in the sources mined by GeneCards:
-
- A. gosspyii yeast (Ashbya gossypii)
- Actinobacteria (Mycobacterium tuberculosis)
- African clawed frog (Xenopus laevis)
- African malaria mosquito (Anopheles gambiae)
- 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)
- 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)
- wheat (Triticum aestivum)
Paralogs for GNB3 Gene
(7) SIMAP similar genes for GNB3 Gene using alignment to 8 proteins:
Variants for GNB3 Gene
SNP ID | Clin | Chr 12 pos | Variation | AA Info | Type |
---|---|---|---|---|---|
rs140263599 | pathogenic, Night blindness, congenital stationary, type 1h, Night blindness, congenital stationary, 1H (CSNB1H) [MIM:617024] | 6,843,073(+) | C/T | coding_sequence_variant, missense_variant | |
rs5443 | drug-response, sildenafil response - Efficacy | 6,845,711(+) | C/T | coding_sequence_variant, synonymous_variant | |
rs879253773 | pathogenic, Night blindness, congenital stationary, type 1h | 6,846,892(+) | G/A | 3_prime_UTR_variant, coding_sequence_variant, stop_gained | |
rs879253774 | pathogenic, Night blindness, congenital stationary, type 1h | 6,843,042(+) | AAGA/A | coding_sequence_variant, inframe_deletion | |
rs1001237782 | -- | 6,847,183(+) | C/A | 3_prime_UTR_variant |
Additional Variant Information for GNB3 Gene
No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for GNB3 Gene
Disorders for GNB3 Gene

(15) MalaCards diseases for GNB3 Gene - From: HGMD, OMIM, ClinVar, GTR, Orphanet, DISEASES, Novoseek, and GeneCards
Disorder | Aliases | PubMed IDs |
---|---|---|
night blindness, congenital stationary, type 1h |
|
|
hypertension, essential |
|
|
congenital stationary night blindness |
|
|
autosomal recessive congenital stationary night blindness |
|
|
night blindness |
|
|
UniProtKB/Swiss-Prot
GBB3_HUMAN- Night blindness, congenital stationary, 1H (CSNB1H) [MIM:617024]: A form of congenital stationary night blindness, a non-progressive retinal disorder characterized by impaired night vision or in dim light, with good vision only on bright days. CSNB1H patients present with childhood-onset night blindness and middle age-onset photophobia, but have near-normal vision and do not exhibit nystagmus or high myopia. CSNB1H inheritance is autosomal recessive. {ECO:0000269 PubMed:27063057}. Note=The disease is caused by mutations affecting the gene represented in this entry.
Additional Disease Information for GNB3
- Genetic Association Database
- (GAD)
- Human Genome Epidemiology Navigator
- (HuGE)
- ATLAS of Genetics and Cytogenetics in Oncology and Haematology
No data available for Genatlas for GNB3 Gene
Publications for GNB3 Gene
- A preliminary candidate genotype-intermediate phenotype study of satiation and gastric motor function in obesity. (PMID: 19876010) Papathanasopoulos A … Zinsmeister AR (Obesity (Silver Spring, Md.) 2010) 3 22 44 58
- Effect of the common -866G/A polymorphism of the uncoupling protein 2 gene on weight loss and body composition under sibutramine therapy in an obese Taiwanese population. (PMID: 20359253) Hsiao TJ … Lin E (Molecular diagnosis & therapy 2010) 3 22 44 58
- Haplotypes of the adrenergic system predict the blood pressure response to beta-blockers in women with essential hypertension. (PMID: 20235788) Filigheddu F … Glorioso N (Pharmacogenomics 2010) 3 22 44 58
- The influence of six cardiovascular polymorphisms on a first event of ischemic heart disease is modified by sex and age. (PMID: 19779330) Plat AW … Kroon AA (Coronary artery disease 2009) 3 22 44 58
- Common variants in the G protein beta3 subunit gene and thyroid disorders in a formerly iodine-deficient population. (PMID: 19772422) Völzke H … Rosskopf D (Thyroid : official journal of the American Thyroid Association 2009) 3 22 44 58
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- Mammalian expression: PiggyBac
- Mammalian Tet-on expression: plasmid
- Mammalian conditional (Cre-Lox): plasmid and PiggyBac
- Mammalian shRNA knockdown: lentiviral, adenoviral, AAV, and PiggyBac
- CRISPR: plasmid gRNA, lentiviral gRNA, and donor plasmid
- Bacterial expression: pET, pBAD, and pCS
- Yeast expression
- Addgene plasmids for GNB3
- antibodies-online: Search results for 82 available GNB3 Antibodies ranked by validation data
- Compare Top GNB3 Antibodies
- antibodies-online: Search results for 6 available GNB3 Elisa Kits ranked by validation data
- Compare Top GNB3 Elisa Kits
- antibodies-online: Search results for 4 available GNB3 Proteins ranked by validation data
- Compare Top GNB3 Proteins
- Search GeneTex for Antibodies for GNB3
- Search GeneTex for Proteins for GNB3
- ViGene Biosciences adenoviral particle packaged cDNA for GNB3 gene
- ViGene Biosciences lentiviral particle packaged cDNA for GNB3 gene
- ViGene Biosciences ready-to-package AAV shRNAs for GNB3 gene
- Search ViGene Biosciences for GNB3
- Santa Cruz Biotechnology (SCBT) Antibodies for GNB3
- Search Santa Cruz Biotechnology (SCBT) for GNB3 siRNA/shRNA
- Santa Cruz Biotechnology (SCBT) CRISPR for GNB3
- Horizon Cell Lines for GNB3
- genomics-online: cdna clones - Search results for 109 available GNB3 gene related products
- Overview of 109 available GNB3 gene related products
- orf clones - Search results for 109 available GNB3 gene related products
- Overview of 109 available GNB3 gene related products
- genomics-online: gRNA clones - Search results for 109 available GNB3 gene related products
- Overview of 109 available GNB3 gene related products
- genomics-online: primer clones - Search results for 109 available GNB3 gene related products
- Overview of 109 available GNB3 gene related products
- genomics-online: shRNA clones - Search results for 109 available GNB3 gene related products
- Overview of 109 available GNB3 gene related products
Sources for GNB3 Gene
- (1) GeneCards
- (2) HGNC
- (3) EntrezGene
- (4) Swiss-Prot
- (5) Ensembl
- (6) OMIM
- (7) GeneLoc
- (8) Gene Wiki
- (9) UCSC
- (10) PhosphoSitePlus
- (11) GO
- (12) TrEMBL
- (13)