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Aliases for GNB3 Gene

Aliases for GNB3 Gene

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

External Ids for GNB3 Gene

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 (Guanine Nucleotide Binding Protein (G Protein), Beta Polypeptide 3) is a Protein Coding gene. Diseases associated with GNB3 include hypertension, essential and aortic coarctation. Among its related pathways are PI3K-Akt signaling pathway and GPCR Pathway. GO annotations related to this gene include signal transducer activity and GTPase 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-receptor binding results in detachment of the G protein, switching it to an on state and permitting Galpha activation of second messenger signalling cascades. There are several types of Galpha proteins; in addition, some Gbetagamma subunits have active functions. Gbetagamma coupled to H1 receptors can activate PLA2 and Gbetagamma coupled to M1 receptors can activate KIR channels.

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

Genomic Location for GNB3 Gene

Start:
6,839,954 bp from pter
End:
6,847,400 bp from pter
Size:
7,447 bases
Orientation:
Plus strand

Genomic View for GNB3 Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for GNB3 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for GNB3 Gene

Regulatory Elements 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

No data available for DME Specific Peptides for GNB3 Gene

Domains for GNB3 Gene

Gene Families for GNB3 Gene

HGNC:
  • WDR :WD repeat domain containing

Graphical View of Domain Structure for InterPro Entry

P16520

UniProtKB/Swiss-Prot:

GBB3_HUMAN
Family:
  • Belongs to the WD repeat G protein beta family.:
    • P16520
Similarity:
  • Contains 7 WD repeats.:
    • P16520
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

Gene Ontology (GO) - Molecular Function 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
genes like me logo Genes that share ontologies with GNB3: view

Phenotypes for GNB3 Gene

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

miRNA for GNB3 Gene

miRTarBase miRNAs that target GNB3

No data available for Enzyme Numbers (IUBMB) , Transcription Factor Targeting 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
plasma membrane 4
cytosol 3
nucleus 2
endoplasmic reticulum 1
extracellular 1
golgi apparatus 1

Gene Ontology (GO) - Cellular Components for GNB3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005886 plasma membrane TAS --
GO:0043005 neuron projection IEA --
GO:0044297 cell body IEA --
GO:0070062 extracellular exosome IDA 23533145
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 for GNB3 Gene

SuperPathways for GNB3 Gene

Superpath Contained pathways
1 ADP signalling through P2Y purinoceptor 12
2 Development Angiotensin activation of ERK
3 Circadian entrainment
4 fMLP Pathway
5 GPCR Pathway
genes like me logo Genes that share pathways with GNB3: view

Gene Ontology (GO) - Biological Process for GNB3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006112 energy reserve metabolic process TAS --
GO:0006184 obsolete GTP catabolic process --
GO:0007186 G-protein coupled receptor signaling pathway TAS 2107550
GO:0007268 synaptic transmission TAS --
GO:0008217 regulation of blood pressure TAS 9425898
genes like me logo Genes that share ontologies with GNB3: view

Compounds for GNB3 Gene

(5) Tocris Compounds for GNB3 Gene

Compound Action Cas Number
8-Bromo-cGMP, sodium salt cGMP analog; activates PKG [51116-01-9]
Gallein Inhibitor of betagamma signaling [2103-64-2]
G-Protein antagonist peptide Inhibits G protein activation by GPCRs [143675-79-0]
Pertussis Toxin Catalyzes ADP-ribosylation of Gi, Go and Gt [70323-44-3]
Suramin hexasodium salt Non-selective P2 antagonist [129-46-4]

(3) HMDB Compounds for GNB3 Gene

Compound Synonyms Cas Number PubMed IDs
Guanosine diphosphate
  • 5'-GDP
146-91-8
Guanosine monophosphate
  • 5'-GMP
85-32-5
Guanosine triphosphate
  • 5'-GTP
86-01-1

(19) Novoseek inferred chemical compound relationships for GNB3 Gene

Compound -log(P) Hits PubMed IDs
nppa 62.9 2
sibutramine 56.7 4
thiazide 46.9 1
sodium 31.5 4
guanine 30.4 6

(9) PharmGKB related drug/compound annotations for GNB3 Gene

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 (8.6), Brain - Cerebellum (5.7), and Brain - Cerebellar Hemisphere (4.9).

Integrated Proteomics: protein expression 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 expressions with GNB3: view

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 35
  • 91.47 (n)
  • 97.35 (a)
GNB3 36
  • 97 (a)
OneToOne
dog
(Canis familiaris)
Mammalia GNB3 35
  • 91.18 (n)
  • 96.76 (a)
GNB3 36
  • 97 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Gnb3 35
  • 89.8 (n)
  • 97.06 (a)
Gnb3 16
Gnb3 36
  • 97 (a)
OneToOne
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 Gbeta13F 36
  • 77 (a)
OneToMany
Gbgr76C 37
  • 42 (a)
Gbgr13F 37
  • 77 (a)
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

Selected 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 MAF
rs5442 - 6,845,700(+) TCTGC(A/G)GCATC missense, reference
rs5443 -- 6,845,711(+) ACGTC(C/T)GTGGC reference, synonymous-codon
rs2071057 -- 6,840,888(+) CCGCC(A/G)GTCGG utr-variant-5-prime, upstream-variant-2KB
rs2234756 - 6,843,196(+) CGCAA(A/G/T)ATGGG missense, reference
rs2234757 -- 6,845,648(+) TTTGA(C/T)CTGCG reference, synonymous-codon

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

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

(1) OMIM Diseases for GNB3 Gene (139130)

(1) University of Copenhagen DISEASES for GNB3 Gene

(31) Novoseek inferred disease relationships for GNB3 Gene

Disease -log(P) Hits PubMed IDs
essential hypertension 79.1 31
obesity 60.9 43
genetic susceptibility 53.9 1
hypertension arterial 52 8
ventricular hypertrophy 41.1 2

Relevant External Links for GNB3

Genetic Association Database (GAD)
GNB3
Human Genome Epidemiology (HuGE) Navigator
GNB3
genes like me logo Genes that share disorders with GNB3: view

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

Publications for GNB3 Gene

  1. Association of a human G-protein beta3 subunit variant with hypertension. (PMID: 9425898) Siffert W. … Horsthemke B. (Nat. Genet. 1998) 3 23 48
  2. G protein beta 3 gene: structure, promoter, and additional polymorphisms. (PMID: 10904009) Rosskopf D. … Siffert W. (Hypertension 2000) 3 4 23
  3. Interaction of the ACE D allele and the GNB3 825T allele in myocardial infarction. (PMID: 11116112) Naber C.K. … Siffert W. (Hypertension 2000) 3 23 48
  4. Association between a polymorphism in the G protein beta3 subunit gene (GNB3) with arterial hypertension but not with myocardial infarction. (PMID: 11230982) Hengstenberg C. … Holmer S.R. (Cardiovasc. Res. 2001) 3 23 48
  5. G-protein beta(3) subunit gene (GNB3) 825T allele is associated with enhanced renal perfusion in early hypertension. (PMID: 11244012) Zeltner R. … Schmieder R.E. (Hypertension 2001) 3 23 48

Products for GNB3 Gene

  • Addgene plasmids for GNB3

Sources for GNB3 Gene

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