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 sub... See more...

Aliases for GNB3 Gene

Aliases for GNB3 Gene

  • G Protein Subunit Beta 3 2 3 5
  • Guanine Nucleotide-Binding Protein G(I)/G(S)/G(T) Subunit Beta-3 2 3 4
  • 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
  • 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 Night Blindness, Congenital Stationary, Type 1H and Hypertension, Essential. Among its related pathways are Signaling by GPCR and CCR5 Pathway in Macrophages. 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 Summary 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

Additional gene information for GNB3 Gene

No data available for CIViC Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for GNB3 Gene

Genomics for GNB3 Gene

GeneHancer (GH) Regulatory Elements for GNB3 Gene

Promoters and enhancers for GNB3 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
GH12J006839 Promoter/Enhancer 1.1 EPDnew Ensembl ENCODE 525.8 +0.7 746 2.6 CTCF POLR2A NFYB TCF12 NCOR1 POLR2G TAL1 POU2F2 VEZF1 ZNF398 GNB3 NONHSAG010340.2 lnc-CDCA3-2 SPSB2 ENO2 TPI1 lnc-SPSB2-2-001 P3H3
GH12J006838 Enhancer 0.3 Ensembl 500.7 -1.8 -1753 0.4 POLR2G GNB3 lnc-CDCA3-2 lnc-CDCA3-3 P3H3
GH12J006751 Promoter/Enhancer 2.2 EPDnew Ensembl ENCODE CraniofacialAtlas 20.8 -86.6 -86621 3.3 ZBTB40 EP300 CTCF SIN3A NRF1 TCF12 POLR2G SP1 NCOR1 RBAK MLF2 lnc-PTMS-2 lnc-PIANP-3 ATN1 CHD4 ZNF384 GNB3 P3H3 ENSG00000272173 ENSG00000247853
GH12J006940 Promoter/Enhancer 2.7 EPDnew FANTOM5 Ensembl ENCODE CraniofacialAtlas dbSUPER 10.5 +113.7 113704 25.9 RXRA EP300 FOXK2 HNRNPK ZBTB40 ZNF217 CTCF ZSCAN5C SIN3A TCF12 EMG1 PTPN6 C12orf57 ZNF384 ENSG00000219410 CHD4 ENSG00000247853 SPSB2 NOP2 SCARNA12
GH12J006722 Promoter/Enhancer 2.1 EPDnew Ensembl ENCODE CraniofacialAtlas 12.8 -115.9 -115853 2.6 EP300 ZBTB40 ZNF217 SIN3A NRF1 TCF12 ZNF300 POLR2G USF1 SP1 COPS7A ENSG00000270068 lnc-PIANP-4 ENSG00000219410 CHD4 ATN1 GNB3 ZNF384 CD4 GPR162
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around GNB3 on UCSC Golden Path with GeneCards custom track

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for GNB3

Top Transcription factor binding sites by QIAGEN in the GNB3 gene promoter:
  • ATF
  • CREB
  • deltaCREB
  • GATA-2
  • HSF2
  • PPAR-alpha
  • PPAR-gamma1
  • PPAR-gamma2

Genomic Locations for GNB3 Gene

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)
Size:
7,440 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

Gene Families for GNB3 Gene

HGNC:
Human Protein Atlas (HPA):
  • Disease related genes
  • Plasma proteins
  • Predicted intracellular proteins

Protein Domains for GNB3 Gene

Blocks:
  • G-protein beta WD-40 repeat signature
  • Beta G-protein (transducin) signature
InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for GNB3 Gene

GenScript: Design optimal peptide antigens:
  • Guanine nucleotide-binding protein G(I)/G(S)/G(T) subunit beta-3 (F1T0G4_HUMAN)
  • Guanine nucleotide-binding protein G(I)/G(S)/G(T) subunit beta-3 (F1T0G5_HUMAN)
  • Transducin beta chain 3 (GBB3_HUMAN)

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

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 3,with a shortened splice variant GNB3-s associated with essential hypertension and susceptibility factor in obesity in Inuits with the 825TT variant

Phenotypes From GWAS Catalog for GNB3 Gene

Gene Ontology (GO) - Molecular Function for GNB3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003924 GTPase activity TAS 9425898
GO:0005515 protein binding IPI,IEA 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

Human Phenotype Ontology for GNB3 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for GNB3 Gene

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

Animal Model Products

CRISPR Products

miRNA for GNB3 Gene

miRTarBase miRNAs that target GNB3

Clone Products

  • Addgene plasmids for GNB3

No data available for Enzyme Numbers (IUBMB) , 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
cytosol 5
plasma membrane 4
extracellular 2
nucleus 2
cytoskeleton 1
mitochondrion 1
peroxisome 1
endoplasmic reticulum 1
golgi apparatus 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Golgi apparatus (2)
  • Plasma membrane (2)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for GNB3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005623 cell IEA --
GO:0005829 cytosol TAS --
GO:0005886 plasma membrane TAS --
GO:0030425 dendrite IEA --
GO:0043005 neuron projection 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

PathCards logo

SuperPathways for GNB3 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 GNB3: view

Pathways by source for GNB3 Gene

34 GeneGo (Thomson Reuters) pathways for GNB3 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 GNB3 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
2 Cell Signaling Technology pathways for GNB3 Gene

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:0006884 cell volume homeostasis IGI 29206867
GO:0007165 signal transduction IEA --
GO:0007186 G protein-coupled receptor signaling pathway TAS 2107550
GO:0008217 regulation of blood pressure TAS 9425898
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 278
Sibutramine Approved, Illicit, Investigational, Withdrawn Pharma 32
Atenolol Approved Pharma Antagonist 112
Bumetanide Approved Pharma Agonist, Inhibition, Inhibitor NKCC cotransporter inhibitor, Na+/2Cl-/K+ (NKCC) symporter inhibitor 26
Furosemide Approved, Vet_approved Pharma Agonist, Inhibition, Inhibitor GABAA receptors antagonist, Na+/2Cl-/K+ (NKCC) symporter inhibitor. Also antagonizes GABAA 250

(10) Additional Compounds for GNB3 Gene - From: Novoseek and 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 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
genes like me logo Genes that share compounds with GNB3: view

Transcripts for GNB3 Gene

mRNA/cDNA for GNB3 Gene

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

CRISPR 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

Expression for GNB3 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and 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 and MOPED for GNB3 Gene



Protein tissue co-expression partners for GNB3 Gene

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

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 31 30
  • 98.24 (n)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia GNB3 31
  • 94 (a)
OneToOne
cow
(Bos Taurus)
Mammalia GNB3 31 30
  • 91.47 (n)
OneToOne
dog
(Canis familiaris)
Mammalia GNB3 31 30
  • 91.18 (n)
OneToOne
rat
(Rattus norvegicus)
Mammalia Gnb3 30
  • 89.9 (n)
mouse
(Mus musculus)
Mammalia Gnb3 17 31 30
  • 89.8 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia GNB3 31
  • 88 (a)
OneToOne
chicken
(Gallus gallus)
Aves GNB3 30
  • 81.96 (n)
lizard
(Anolis carolinensis)
Reptilia GNB3 31
  • 90 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia gnb3 30
  • 77.55 (n)
zebrafish
(Danio rerio)
Actinopterygii gnb3a 30
  • 71.96 (n)
fruit fly
(Drosophila melanogaster)
Insecta Gbeta13F 31
  • 77 (a)
OneToMany
G&bgr;13F 32
  • 77 (a)
G&bgr;76C 32
  • 42 (a)
worm
(Caenorhabditis elegans)
Secernentea gpb-1 31 32
  • 81 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea CSA.10536 31
  • 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)
Aminode:
Evolutionary constrained regions (ECRs) for GNB3: view image

Paralogs for GNB3 Gene

Paralogs for GNB3 Gene

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

  • GBB3_HUMAN
  • E9PCP0_HUMAN
  • F1T0G4_HUMAN
  • F1T0G5_HUMAN
  • F5GZN8_HUMAN
  • F5H0S8_HUMAN
  • F5H100_HUMAN
  • F5H8J8_HUMAN
genes like me logo Genes that share paralogs with GNB3: view

Variants for GNB3 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for GNB3 Gene

SNP ID Clinical significance and condition Chr 12 pos Variation AA Info Type
675808 Benign: not provided 6,845,460(+) G/A INTRON_VARIANT
708944 Benign: not provided 6,843,496(+) A/G MISSENSE_VARIANT
748304 Benign: not provided 6,841,609(+) C/T SYNONYMOUS_VARIANT
774817 Benign: not provided 6,845,615(+) G/A SYNONYMOUS_VARIANT
784297 Benign: not provided 6,843,936(+) T/A SYNONYMOUS_VARIANT

Additional dbSNP identifiers (rs#s) for GNB3 Gene

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)

Additional Variant Information for GNB3 Gene

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

SNP Genotyping and Copy Number Assay Products

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

Disorders for GNB3 Gene

MalaCards: The human disease database

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

Disorder Aliases PubMed IDs
night blindness, congenital stationary, type 1h
  • csnb1h
hypertension, essential
  • eht
congenital stationary night blindness
  • congenital essential nyctalopia
night blindness
autosomal recessive congenital stationary night blindness
  • autosomal recessive complete congenital stationary night blindness
- 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.

Additional Disease Information for GNB3

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
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 AR (Obesity (Silver Spring, Md.) 2010) 3 23 41 54
  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 23 41 54
  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 TJ … Lin E (Molecular diagnosis & therapy 2010) 3 23 41 54
  4. 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 23 41 54
  5. 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 AW … Kroon AA (Journal of hypertension 2009) 3 23 41 54

Products for GNB3 Gene