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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

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 Congenital Stationary Night Blindness 1H and Hypertension, Essential. Among its related pathways are CCR5 Pathway in Macrophages and Aquaporin-mediated transport. 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.

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 CIViC summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for GNB3 Gene

Genomics for GNB3 Gene

Regulatory Elements for GNB3 Gene

Enhancers for GNB3 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH12G006880 0.9 ENCODE 26 +40.9 40918 1.6 ZFP64 ARID4B DMAP1 ZNF202 REST ZNF623 ZNF518A ZNF292 MIER3 ZBTB21 SPSB2 ENSG00000219410 C12orf57 GNB3 PHB2 ENSG00000247853 ENO2 CDCA3 USP5 ATN1
GH12G006459 1.6 Ensembl ENCODE dbSUPER 14.5 -377.8 -377811 6.3 HDGF PKNOX1 CREB3L1 AGO1 ZFP64 ARID4B SIN3A DMAP1 ZNF2 YY1 TAPBPL MRPL51 VAMP1 ENSG00000219410 ENSG00000247853 GNB3 ENO2 C12orf57 RPL13P5 GAPDH
GH12G007059 1.2 Ensembl ENCODE 17.8 +220.8 220814 2.5 FOXA2 ARID4B SIN3A ZBTB7B YY1 ZNF143 ZNF416 MXD4 REST ZNF518A ENSG00000219410 ENSG00000247853 C1RL-AS1 SCARNA12 GNB3 NCAPD2 SPSB2 C1R C1RL GDF3
GH12G006839 0.8 ENCODE 25.9 +0.4 443 2.0 HDGF AGO1 RAD21 TCF12 GLIS2 ZNF366 ZNF143 RELB IKZF2 ZNF362 GNB3 SPSB2 ENO2 GC12P006844
GH12G007796 1.2 Ensembl ENCODE dbSUPER 14.5 +958.9 958884 4.6 BCOR ZNF792 ZNF10 ZNF781 RARA JUND ZNF316 ZNF34 POLR2A ZBTB33 FAM66C GNB3 NECAP1 ENO2 DPPA3 DEFB109F RPL13P5 DSTNP2 SLC2A3 NANOG
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around GNB3 on UCSC Golden Path with GeneCards custom track

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

Post-translational modifications for GNB3 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

No data available for DME Specific Peptides for GNB3 Gene

Domains & 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.
Family:
  • Belongs to the WD repeat G protein beta family.
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
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

CRISPR Products

miRNA for GNB3 Gene

miRTarBase miRNAs that target GNB3

Inhibitory RNA Products

Clone Products

  • Addgene plasmids for GNB3

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

Localization for GNB3 Gene

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 GNB3 gene
Compartment Confidence
plasma membrane 5
extracellular 5
cytosol 5
nucleus 2
endoplasmic reticulum 1

Gene Ontology (GO) - Cellular Components for GNB3 Gene

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 --
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

SuperPathway Contained pathways
1 Development Angiotensin activation of ERK
2 ADP signalling through P2Y purinoceptor 12
3 fMLP Pathway
4 Presynaptic function of Kainate receptors
5 Development Dopamine D2 receptor transactivation of EGFR
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: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 --
genes like me logo Genes that share ontologies with GNB3: view

Drugs & Compounds for GNB3 Gene

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

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Clonidine Approved Pharma Partial agonist, Agonist 240
Atenolol Approved Pharma Antagonist 104
Bumetanide Approved Pharma Agonist NKCC cotransporter inhibitor, Na+/2Cl-/K+ (NKCC) symporter inhibitor 17
Furosemide Approved, Vet_approved Pharma Agonist GABAA receptors antagonist, Na+/2Cl-/K+ (NKCC) symporter inhibitor. Also antagonizes GABAA 193
Hydralazine Approved Pharma 45

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

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
8-Bromo-cGMP, sodium salt
51116-01-9
CMPD101
865608-11-3
Gallein
2103-64-2
G-Protein antagonist peptide
143675-79-0
Pertussis Toxin
70323-44-3

(5) Tocris Compounds for GNB3 Gene

Compound Action Cas Number
8-Bromo-cGMP, sodium salt cGMP analog; activates PKG 51116-01-9
CMPD101 Potent and selective GRK2/3 inhibitor 865608-11-3
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
genes like me logo Genes that share compounds with GNB3: view

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

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

CRISPR Products

Inhibitory RNA Products

Clone Products

  • Addgene plasmids for GNB3

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 from GTEx, Illumina, BioGPS, and CGAP SAGE 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



Protein tissue co-expression partners for GNB3 Gene

NURSA nuclear receptor signaling pathways regulating expression of GNB3 Gene:

GNB3

SOURCE GeneReport for Unigene cluster for GNB3 Gene:

Hs.631657

Evidence on tissue expression from TISSUES for GNB3 Gene

  • Eye(4.9)
  • Nervous system(4.3)
  • Blood(2.4)
genes like me logo Genes that share expression patterns with GNB3: view

Primer Products

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.

Orthologs for GNB3 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia GNB3 34 35
  • 98.24 (n)
oppossum
(Monodelphis domestica)
Mammalia GNB3 35
  • 94 (a)
OneToOne
cow
(Bos Taurus)
Mammalia GNB3 34 35
  • 91.47 (n)
dog
(Canis familiaris)
Mammalia GNB3 35 34
  • 91.18 (n)
OneToOne
rat
(Rattus norvegicus)
Mammalia Gnb3 34
  • 89.9 (n)
mouse
(Mus musculus)
Mammalia Gnb3 34 16 35
  • 89.8 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia GNB3 35
  • 88 (a)
OneToOne
chicken
(Gallus gallus)
Aves GNB3 34
  • 81.96 (n)
lizard
(Anolis carolinensis)
Reptilia GNB3 35
  • 90 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia gnb3 34
  • 77.55 (n)
zebrafish
(Danio rerio)
Actinopterygii gnb3a 34
  • 71.96 (n)
fruit fly
(Drosophila melanogaster)
Insecta Gbgr13F 36
  • 77 (a)
Gbeta13F 35
  • 77 (a)
OneToMany
Gbgr76C 36
  • 42 (a)
worm
(Caenorhabditis elegans)
Secernentea gpb-1 36 35
  • 81 (a)
sea squirt
(Ciona savignyi)
Ascidiacea CSA.10536 35
  • 74 (a)
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)

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
rs140263599 Pathogenic, Night blindness, congenital stationary, 1H (CSNB1H) [MIM:617024] 6,843,073(+) TGATT(C/T)TAAGT reference, missense
rs5443 drug-response 6,845,711(+) ACGTC(C/T)GTGGC nc-transcript-variant, reference, synonymous-codon
rs879253773 Pathogenic 6,846,892(+) ATCTG(A/G)AACTG nc-transcript-variant, reference, missense, utr-variant-3-prime, stop-gained
rs879253774 Pathogenic 6,843,043(+) GGCCA(-/AGA)TTTAC cds-indel
rs1001237782 -- 6,847,183(+) GCAGG(A/C)CCAGC intron-variant, utr-variant-3-prime

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

Variant ID Type Subtype PubMed ID
esv3580405 CNV gain 25503493
nsv557261 CNV loss 21841781
nsv832323 CNV loss 17160897
nsv832324 CNV loss 17160897

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

Human Gene Mutation Database (HGMD)
GNB3
SNPedia medical, phenotypic, and genealogical associations of SNPs for
GNB3

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

Disorders for GNB3 Gene

MalaCards: The human disease database

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

Disorder Aliases PubMed IDs
congenital stationary night blindness 1h
  • congenital stationary night blindness type 1h
hypertension, essential
  • hypertension, essential 3
dyspepsia
  • dyspepsia, indigestion nos
peripartum cardiomyopathy
  • meadows' syndrome
syncope
- elite association - COSMIC cancer census association via MalaCards
Search GNB3 in MalaCards View complete list of genes associated with diseases

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.

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 Genatlas for GNB3 Gene

Publications for GNB3 Gene

  1. 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 22 46 64
  2. 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 46 64
  3. 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 22 46 64
  4. The association between arterial stiffness and the angiotensin II type 1 receptor (A1166C) polymorphism is influenced by the use of cardiovascular medication. (PMID: 19145770) Plat A.W. … Kroon A.A. (J. Hypertens. 2009) 3 22 46 64
  5. Genetic insight into syncopal tilted population with severe clinical presentation. (PMID: 19243996) Lelonek M. … Goch J.H. (Auton Neurosci 2009) 3 22 46 64

Products for GNB3 Gene

  • Addgene plasmids for GNB3

Sources for GNB3 Gene

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