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GNB3 Gene(Protein Coding)

G Protein Subunit Beta 3

GCID:
GC12P006839
GIFtS:
58
Genes Participants
UDN Logo

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 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.

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 , fRNAdb sequence ontologies and piRNA Summary for GNB3 Gene

Genomics for GNB3 Gene

Products:

  1. Regulatory Element

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
GH12I006839 Promoter/Enhancer 1.1 EPDnew ENCODE 575.9 +0.4 442 2 MAZ TEAD4 TAL1 CBFA2T3 ZNF398 TCF12 GLIS2 NCOR1 POLR2A VEZF1 GNB3 GC12M006839 SPSB2 ENO2 GC12P006844 P3H3
GH12I006751 Promoter/Enhancer 2.1 EPDnew Ensembl ENCODE 20.8 -86.8 -86799 3 HDGF FOXA2 PKNOX1 SMAD1 ARID4B SIN3A DMAP1 ZNF2 IRF4 YY1 MLF2 CHD4 ATN1 ZNF384 ENSG00000247853 ENSG00000219410 GNB3 P3H3 NOP2 ENSG00000272173
GH12I006940 Promoter/Enhancer 2.7 EPDnew FANTOM5 Ensembl ENCODE dbSUPER 10.5 +113.7 113704 25.9 CLOCK MLX ZFP64 FEZF1 DMAP1 IRF4 YY1 SLC30A9 ZNF213 E2F8 PTPN6 C12orf57 ZNF384 ENSG00000219410 CHD4 ENSG00000247853 SPSB2 SCARNA12 ENSG00000256967 NCAPD2
GH12I006866 Promoter/Enhancer 2.3 EPDnew Ensembl ENCODE dbSUPER 12.1 +30.3 30290 8.5 HDGF SMAD1 MLX ARID4B SIN3A DMAP1 ZNF2 YY1 POLR2B ZNF213 SPSB2 TPI1 PIR60823 ZNF384 ING4 ENSG00000219410 ATN1 ENSG00000247853 P3H3 CHD4
GH12I006722 Promoter/Enhancer 2.1 EPDnew Ensembl ENCODE 12.8 -115.9 -115901 2.3 CLOCK MLX ZFP64 FEZF1 DMAP1 YY1 ZNF213 E2F8 ZNF143 SP3 COPS7A ENSG00000270068 ENSG00000219410 CHD4 ZNF384 NOP2 ATN1 ENSG00000247853 NCAPD2 GNB3
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around GNB3 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the GNB3 gene promoter:

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)

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 Structure • Gene Density

RefSeq DNA sequence for GNB3 Gene

Proteins for GNB3 Gene

Products:

  1. Antibody
  2. Protein
  3. Assay

  • 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

Protein Expression for GNB3 Gene

See protein expression from ProteomicsDB, MOPED, PaxDb, and MaxQB

Post-translational modifications for GNB3 Gene

No Post-translational modifications

Other Protein References for GNB3 Gene

ENSEMBL proteins:
REFSEQ proteins:

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

InterPro:
Blocks:
ProtoNet:

Suggested Antigen Peptide Sequences for GNB3 Gene

GenScript: Design optimal peptide antigens:

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

Products:

  1. Animal Model
  2. CRISPR
  3. miRNA
  4. Inhibitory RNA
  5. Clone
  6. Cell Line

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

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

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 tm1(KOMP)Vlcg

Animal Model 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
plasma membrane 5
extracellular 5
cytosol 5
nucleus 2
endoplasmic reticulum 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: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

SuperPathways for GNB3 Gene

PathCards logo More details on SuperPathways for GNB3
SuperPathway Contained pathways
1 Development Angiotensin activation of ERK
Development ACM2 and ACM4 activation of ERK
.73
Development Angiotensin activation of ERK
.73
Development Angiotensin signaling via PYK2
.68
Development G-Proteins mediated regulation MARK-ERK signaling
.65
Development EDNRB signaling
.54
Development EPO-induced MAPK pathway
.48
Cell adhesion Integrin inside-out signaling
.45
Signal transduction IP3 signaling
.40
2 ADP signalling through P2Y purinoceptor 12
ADP signalling through P2Y purinoceptor 12
.73
G-protein activation
.73
Adrenaline,noradrenaline inhibits insulin secretion
.59
Cooperation of PDCL (PhLP1) and TRiC/CCT in G-protein beta folding
.57
G alpha (z) signalling events
.45
Signal transduction cAMP signaling
.43
Beta-agonist/Beta-blocker Pathway, Pharmacodynamics
.34
3 fMLP Pathway
CCR3 Pathway in Eosinophils
.44
VEGF and S-1P Signaling
.44
fMLP Pathway
.43
Signal transduction Activation of PKC via G-Protein coupled receptor
.42
CXCR4 Pathway
.39
Alpha-Adrenergic Signaling
.38
Huntington's Disease Pathway
.30
4 G-Beta Gamma Signaling
G-Beta Gamma Signaling
.46
GHRH Signaling
.46
CRHR Pathway
.44
Relaxin Pathway
.37
Hedgehog Signaling in Mammals
.32
Signaling in Gap Junctions
.30
5 Presynaptic function of Kainate receptors
Activation of Kainate Receptors upon glutamate binding
.66
Presynaptic function of Kainate receptors
.66
Glucagon-type ligand receptors
.50
G-Protein Signaling through Tubby Protein
.37
Class B/2 (Secretin family receptors)
.32
G beta-gamma signalling through PLC beta
.01
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

Products:

  1. Drug

(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 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

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

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

Transcripts for GNB3 Gene

Products:

  1. CRISPR
  2. miRNA
  3. Inhibitory RNA
  4. Clone

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:

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

Products:

  1. Primer

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

mRNA expression in normal human tissues for GNB3 Gene
mRNA expression by BioGPS for GNB3 GenemRNA expression by GTEx 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

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 33
  • 98.24 (n)
 OneToOne
oppossum
(Monodelphis domestica)
 Mammalia GNB3 34
  • 94 (a)
 OneToOne
cow
(Bos Taurus)
 Mammalia GNB3 34 33
  • 91.47 (n)
 OneToOne
dog
(Canis familiaris)
 Mammalia GNB3 34 33
  • 91.18 (n)
 OneToOne
rat
(Rattus norvegicus)
 Mammalia Gnb3 33
  • 89.9 (n)
mouse
(Mus musculus)
 Mammalia Gnb3 16 34 33
  • 89.8 (n)
platypus
(Ornithorhynchus anatinus)
 Mammalia GNB3 34
  • 88 (a)
 OneToOne
chicken
(Gallus gallus)
 Aves GNB3 33
  • 81.96 (n)
lizard
(Anolis carolinensis)
 Reptilia GNB3 34
  • 90 (a)
 OneToOne
tropical clawed frog
(Silurana tropicalis)
 Amphibia gnb3 33
  • 77.55 (n)
zebrafish
(Danio rerio)
 Actinopterygii gnb3a 33
  • 71.96 (n)
fruit fly
(Drosophila melanogaster)
 Insecta Gbgr13F 35
  • 77 (a)
Gbeta13F 34
  • 77 (a)
 OneToMany
Gbgr76C 35
  • 42 (a)
worm
(Caenorhabditis elegans)
 Secernentea gpb-1 35 34
  • 81 (a)
sea squirt
(Ciona savignyi)
 Ascidiacea CSA.10536 34
  • 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 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

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

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

Disorders for GNB3 Gene

MalaCards: The human disease database

(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
  • csnb1h
hypertension, essential
  • eht
congenital stationary night blindness
  • congenital essential nyctalopia
autosomal recessive congenital stationary night blindness
  • autosomal recessive complete congenital stationary night blindness
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 22 44 58
  2. 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
  3. 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
  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 22 44 58
  5. 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

Products for GNB3 Gene

  • Addgene plasmids for GNB3

Sources for GNB3 Gene