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Aliases for GNB3 Gene

Aliases for GNB3 Gene

  • G Protein Subunit Beta 3 2 3
  • Guanine Nucleotide Binding Protein (G Protein), Beta Polypeptide 3 2 5
  • Transducin Beta Chain 3 4

External Ids for GNB3 Gene

Previous GeneCards Identifiers for GNB3 Gene

  • GC12M007019
  • GC12M007103
  • GC12P006828
  • GC12P006819
  • GC12P006977
  • GC12P006981
  • GC12P006808
  • GC12P006989
  • GC12P007001
  • GC12P007010
  • GC12P007021
  • GC12P007045
  • GC12P007109
  • GC12P007133

Summaries for GNB3 Gene

Entrez Gene Summary 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 hypertension, essential and syncope. Among its related pathways are Platelet activation, signaling and aggregation and Signaling by GPCR. GO annotations related to this gene include GTPase activity and spectrin binding. An important paralog of this gene is GNB4.

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.

Tocris Summary for GNB3 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 GNB3 Gene

No data available for PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for GNB3 Gene

Genomics for GNB3 Gene

Regulatory Elements for GNB3 Gene

Genomic Location for GNB3 Gene

Chromosome:
12
Start:
6,839,954 bp from pter
End:
6,847,395 bp from pter
Size:
7,442 bases
Orientation:
Plus strand

Genomic View for GNB3 Gene

Genes around GNB3 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
GNB3 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for GNB3 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

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
    Secondary Accessions:
    • 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.

    Alternative splice isoforms for GNB3 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for GNB3 Gene

Proteomics data for GNB3 Gene at MOPED

Post-translational modifications for GNB3 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for GNB3 Gene

Antibody Products

  • Cell Signaling Technology (CST) Antibodies for GNB3 (G beta 3)

No data available for DME Specific Peptides for GNB3 Gene

Domains & Families for GNB3 Gene

Gene Families for GNB3 Gene

Graphical View of Domain Structure for InterPro Entry

P16520

UniProtKB/Swiss-Prot:

GBB3_HUMAN :
  • Belongs to the WD repeat G protein beta family.
  • Contains 7 WD repeats.
Family:
  • Belongs to the WD repeat G protein beta family.
Similarity:
  • Contains 7 WD repeats.
genes like me logo Genes that share domains with GNB3: view

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.
genes like me logo Genes that share phenotypes with GNB3: view

Animal Models for GNB3 Gene

MGI Knock Outs for GNB3:
  • Gnb3 tm1(KOMP)Vlcg

Animal Model Products

miRNA for GNB3 Gene

miRTarBase miRNAs that target GNB3

No data available for Enzyme Numbers (IUBMB) , Gene Ontology (GO) - Molecular Function , Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for GNB3 Gene

Localization for GNB3 Gene

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for GNB3 Gene COMPARTMENTS Subcellular localization image for GNB3 gene
Compartment Confidence
extracellular 5
plasma membrane 5
cytosol 3
nucleus 2
endoplasmic reticulum 1

Gene Ontology (GO) - Cellular Components for GNB3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0030425 dendrite IEA --
genes like me logo Genes that share ontologies with GNB3: view

No data available for Subcellular locations from UniProtKB/Swiss-Prot for GNB3 Gene

Pathways & Interactions for GNB3 Gene

SuperPathways for GNB3 Gene

Superpath Contained pathways
1 Circadian entrainment
2 Development Angiotensin activation of ERK
3 fMLP Pathway
4 Presynaptic function of Kainate receptors
5 G-protein activation
genes like me logo Genes that share pathways with GNB3: view

SIGNOR curated interactions for GNB3 Gene

Activates:
Is activated by:

Gene Ontology (GO) - Biological Process for GNB3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006112 energy reserve metabolic process TAS --
GO:0006457 protein folding TAS --
GO:0007165 signal transduction IEA --
GO:0007186 G-protein coupled receptor signaling pathway TAS 2107550
genes like me logo Genes that share ontologies with GNB3: view

Drugs & Compounds for GNB3 Gene

(32) Drugs for GNB3 Gene - From: Novoseek, HMDB, and PharmGKB

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Clonidine Approved Pharma Partial agonist, Agonist 189
Atenolol Approved Pharma Antagonist 99
Bumetanide Approved Pharma Agonist NKCC cotransporter inhibitor, Na+/2Cl-/K+ (NKCC) symporter inhibitor 15
Furosemide Approved Pharma Agonist GABAA receptors antagonist, Na+/2Cl-/K+ (NKCC) symporter inhibitor. Also antagonizes GABAA 171
Hydralazine Approved Pharma 42

(10) Additional Compounds for GNB3 Gene - From: Tocris and Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
[D-Trp7,9,10]-Substance P
89430-38-6
mastoparan
72093-21-1
Mastoparan X
72093-22-2
NF 023
104869-31-0
SCH 202676 hydrobromide
265980-25-4
genes like me logo Genes that share compounds with GNB3: view

Transcripts for GNB3 Gene

mRNA/cDNA for GNB3 Gene

(4) 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

Guanine nucleotide binding protein (G protein), beta polypeptide 3:
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for GNB3 Gene

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:

Relevant External Links for GNB3 Gene

GeneLoc Exon Structure for
GNB3
ECgene alternative splicing isoforms for
GNB3

Expression for GNB3 Gene

mRNA expression in normal human tissues for GNB3 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for GNB3 Gene

This gene is overexpressed in Pituitary (x8.6), Brain - Cerebellum (x5.7), and Brain - Cerebellar Hemisphere (x4.9).

Protein differential expression in normal tissues from HIPED for GNB3 Gene

This gene is overexpressed in Retina (60.4).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, and MOPED for GNB3 Gene



SOURCE GeneReport for Unigene cluster for GNB3 Gene Hs.631657

genes like me logo Genes that share expression patterns with GNB3: view

Protein tissue co-expression partners for GNB3 Gene

Primer Products

In Situ Assay Products

No data available for mRNA Expression by UniProt/SwissProt for GNB3 Gene

Orthologs for GNB3 Gene

This gene was present in the common ancestor of animals.

Orthologs for GNB3 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia GNB3 35
  • 98.24 (n)
  • 97.35 (a)
GNB3 36
  • 97 (a)
OneToOne
cow
(Bos Taurus)
Mammalia GNB3 36
  • 97 (a)
OneToOne
GNB3 35
  • 91.47 (n)
  • 97.35 (a)
dog
(Canis familiaris)
Mammalia GNB3 35
  • 91.18 (n)
  • 96.76 (a)
GNB3 36
  • 97 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Gnb3 36
  • 97 (a)
OneToOne
Gnb3 16
Gnb3 35
  • 89.8 (n)
  • 97.06 (a)
oppossum
(Monodelphis domestica)
Mammalia GNB3 36
  • 94 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia GNB3 36
  • 88 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Gnb3 35
  • 89.9 (n)
  • 96.47 (a)
chicken
(Gallus gallus)
Aves GNB3 35
  • 81.96 (n)
  • 93.24 (a)
lizard
(Anolis carolinensis)
Reptilia GNB3 36
  • 90 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia gnb3 35
  • 77.55 (n)
  • 88.24 (a)
zebrafish
(Danio rerio)
Actinopterygii gnb3a 35
  • 71.96 (n)
  • 79.71 (a)
fruit fly
(Drosophila melanogaster)
Insecta Gbgr13F 37
  • 77 (a)
Gbgr76C 37
  • 42 (a)
Gbeta13F 36
  • 77 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea gpb-1 36
  • 81 (a)
OneToMany
gpb-1 37
  • 81 (a)
sea squirt
(Ciona savignyi)
Ascidiacea CSA.10536 36
  • 74 (a)
OneToMany
Species with no ortholog for GNB3:
  • 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)

Evolution for GNB3 Gene

ENSEMBL:
Gene Tree for GNB3 (if available)
TreeFam:
Gene Tree for GNB3 (if available)

Paralogs for GNB3 Gene

Paralogs for GNB3 Gene

(7) SIMAP similar genes for GNB3 Gene using alignment to 8 proteins:

genes like me logo Genes that share paralogs with GNB3: view

Variants for GNB3 Gene

Sequence variations from dbSNP and Humsavar for GNB3 Gene

SNP ID Clin Chr 12 pos Sequence Context AA Info Type
rs2234756 - 6,843,196(+) CGCAA(A/G/T)ATGGG reference, missense
VAR_014757 -
VAR_014758 -
VAR_029304 -
VAR_029305 -

Structural Variations from Database of Genomic Variants (DGV) for GNB3 Gene

Variant ID Type Subtype PubMed ID
nsv832323 CNV Loss 17160897
nsv832324 CNV Loss 17160897
nsv898638 CNV Loss 21882294
dgv1353n71 CNV Loss 21882294
nsv898641 CNV Loss 21882294

Variation tolerance for GNB3 Gene

Residual Variation Intolerance Score: 19.9% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 2.95; 49.35% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for GNB3 Gene

HapMap Linkage Disequilibrium report
GNB3
Human Gene Mutation Database (HGMD)
GNB3

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for GNB3 Gene

Disorders for GNB3 Gene

MalaCards: The human disease database

(7) MalaCards diseases for GNB3 Gene - From: OMIM, DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
hypertension, essential
  • hypertension, essential 3
syncope
aortic coarctation
  • coarctation of the aorta
irritable bowel syndrome
  • ibd
dyspepsia
  • dyspepsia, indigestion nos
- elite association - COSMIC cancer census association via MalaCards
Search GNB3 in MalaCards View complete list of genes associated with diseases

Relevant External Links for GNB3

Genetic Association Database (GAD)
GNB3
Human Genome Epidemiology (HuGE) Navigator
GNB3
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
GNB3
genes like me logo Genes that share disorders with GNB3: view

No data available for UniProtKB/Swiss-Prot and Genatlas for GNB3 Gene

Publications for GNB3 Gene

  1. Identification and ethnic distribution of major haplotypes in the gene GNB3 encoding the G-protein beta3 subunit. (PMID: 11927836) Rosskopf D. … Siffert W. (Pharmacogenetics 2002) 3 23 48 67
  2. A preliminary candidate genotype-intermediate phenotype study of satiation and gastric motor function in obesity. (PMID: 19876010) Papathanasopoulos A. … Zinsmeister A.R. (Obesity (Silver Spring) 2010) 3 23
  3. The G-protein beta3 subunit 825 TT genotype is associated with epigastric pain syndrome-like dyspepsia. (PMID: 20102604) Oshima T. … Miwa H. (BMC Med. Genet. 2010) 3 23
  4. 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 23
  5. 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 T.J. … Lin E. (Mol Diagn Ther 2010) 3 23

Products for GNB3 Gene

Sources for GNB3 Gene

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