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GNB3 Gene

protein-coding GIFtS: 67
GCID: GC12P007133

Guanine Nucleotide Binding Protein (G Protein), Beta Polypeptide...

See related diseases
at

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(According to ¹HGNC, ²Entrez Gene,
³UniProtKB/Swiss-Prot, ⁴UniProtKB/TrEMBL, ⁵OMIM, ⁶GeneLoc, ⁷Ensembl, ⁸DME, ⁹miRBase, ¹⁰fRNAdb, ¹²H-InvDB, ¹³NCBI, ¹⁴NONCODE, and/or ¹⁵RNAdb)
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Aliases
Guanine Nucleotide Binding Protein (G Protein), Beta Polypeptide 3¹ ²		Guanine Nucleotide-Binding Protein G(I)/G(S)/G(T) Beta Subunit 3²
Transducin Beta Chain 3² ³		Guanine Nucleotide-Binding Protein G(I)/G(S)/G(T) Subunit Beta-3²
G Protein, Beta-3 Subunit²		Hypertension Associated Protein²
GTP-Binding Regulatory Protein Beta-3 Chain²

External Ids:	HGNC: 4400¹	Entrez Gene: 2784²	Ensembl: ENSG00000111664⁷	OMIM: 139130⁵	UniProtKB: P16520³

Export aliases for GNB3 gene to outside databases

Previous GC identifers: GC12M007019 GC12M007103 GC12P006828 GC12P006819 GC12P006977 GC12P006981 GC12P006808 GC12P006989 GC12P007001 GC12P007010 GC12P007021 GC12P007045 GC12P007109

(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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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. 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. Additional

splice variants may exist for this gene, but they have not been fully described. (provided by RefSeq, Jul 2008)

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 syncope, and aortic coarctation. GO annotations related to this gene include GTPase binding and signal transducer activity. An important paralog of this gene is GNB2.

UniProtKB/Swiss-Prot: GBB3_HUMAN, P16520

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

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

(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence:

NC_000012.12 NT_009759.17 NC_018923.2

Regulatory elements:

Regulatory transcription factor binding sites in the GNB3 gene promoter:
GATA-2 CREB PPAR-alpha PPAR-gamma1 deltaCREB HSF2 PPAR-gamma2 ATF
Other transcription factors

SwitchGear Promoter luciferase reporter plasmid: GNB3 promoter sequence

Search Chromatin IP Primers for GNB3

Epigenetics:

DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat GNB3

Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 12p13 Ensembl cytogenetic band: 12p13.31 HGNC cytogenetic band: 12p13

GNB3 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
GNB3 gene location

GeneLoc information about chromosome 12 GeneLoc Exon Structure

GeneLoc location for GC12P007133: view genomic region (about GC identifiers)

Start:	6,949,118 bp from pter	End:	6,956,557 bp from pter
Size:	7,440 bases	Orientation:	plus strand

(According to ¹UniProtKB, HORDE, ²neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
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UniProtKB/Swiss-Prot: GBB3_HUMAN, P16520 (See protein sequence)

Recommended Name: Guanine nucleotide-binding protein G(I)/G(S)/G(T) subunit beta-3

Size: 340 amino acids; 37221 Da

Subunit: G proteins are composed of 3 units, alpha, beta and gamma. Interacts with RASD2

Secondary accessions: Q9BQC0

Explore the universe of human proteins at neXtProt for GNB3: NX_P16520

Explore proteomics data for GNB3 at MOPED

Post-translational modifications:

Modification sites at neXtProt

Modification sites at PhosphoSitePlus

See GNB3 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

REFSEQ proteins: NP_002066.1

ENSEMBL proteins:

ENSP00000229264 ENSP00000442002 ENSP00000439753 ENSP00000414734 ENSP00000444325

ENSP00000445967

Reactome Protein details: P16520

GNB3 Human Recombinant Protein Products:

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GNB3 Assay Products:

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	Browse ELISAs at Cloud-Clone Corp. Browse CLIAs at Cloud-Clone Corp.

(According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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HGNC Gene Families:

WDR: WD repeat domain containing

Selected InterPro protein domains (see all 7):

IPR019775 WD40_repeat_CS

IPR016346 Guanine_nucleotide-bd_bsu

IPR001680 WD40_repeat

IPR020472 G-protein_beta_WD-40_rep

IPR001632 Gprotein_B

Graphical View of Domain Structure for InterPro Entry P16520

ProtoNet protein and cluster: P16520

2 Blocks protein domains:

IPB001632 Beta G-protein (transducin) signature

IPB001680 G-protein beta WD-40 repeat signature

UniProtKB/Swiss-Prot: GBB3_HUMAN, P16520

Similarity: Belongs to the WD repeat G protein beta family

Similarity: Contains 7 WD repeats

GNB3 for domains About GeneDecksing

(According to ¹UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or ²DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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Molecular Function:

UniProtKB/Swiss-Prot Summary: GBB3_HUMAN, P16520

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 entry for GNB3:

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

Gene Ontology (GO): 4 molecular function terms: About this table

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	--
GO:0051020	GTPase binding	IPI	19255495

GNB3 for ontologies About GeneDecksing

Phenotypes:
1 GenomeRNAi human phenotype for GNB3:

Increased gamma-H2AX phosphory

3 MGI mutant phenotypes (inferred from 1 allele) (MGI details for Gnb3):

mortality/aging

nervous system

vision/eye

GNB3 for phenotypes About GeneDecksing

Animal Models:
MGI mouse knock-out Gnb3^{tm1(KOMP)Vlcg} for GNB3

inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for GNB3

inGenious Targeting Laboratory: Contact us about creating complex and humanized mouse models for GNB3

genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for GNB3

genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for GNB3

miRNA Products:		miRTarBase miRNAs that target GNB3: hsa-mir-26b-5p (MIRT029954)

		Block miRNA regulation of human, mouse, rat GNB3 using miScript Target Protectors
		3 qRT-PCR Assays for microRNAs that regulate GNB3:
		hsa-miR-186* hsa-miR-3675-5p hsa-miR-486-3p
		SwitchGear 3'UTR luciferase reporter plasmid: GNB3 3' UTR sequence

Inhib. RNA Products:		OriGene RNAi products in human, mouse, rat for GNB3
		Predesigned siRNA for gene silencing in human, mouse, rat GNB3

Gene Editing
Products:

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		GenScript: all cDNA clones in your preferred vector: GNB3 (NM_002075)
		Browse Sino Biological Human cDNA Clones
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In Situ Assay
Products:

Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for GNB3

(According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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Subcellular locations from COMPARTMENTS:

Compartment	Confidence
plasma membrane	4
cytosol	3
nucleus	2
endoplasmic reticulum	1
extracellular	1
golgi apparatus	1

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Gene Ontology (GO): 3 cellular component terms: About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0005886	plasma membrane	TAS	--
GO:0043005	neuron projection	IEA	--
GO:0044297	cell body	IEA	--

GNB3 for ontologies About GeneDecksing

(SuperPaths according to PathCards, Pathways according to R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to QIAGEN, and/or STRING, Interactions according to ¹UniProtKB, ²MINT, ³I2D, and/or ⁴STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene).
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SuperPaths for GNB3 About (see all 72)

See pathways by source

SuperPath

Selected contained pathways About (see all per SuperPath)

ADP signalling through P2Y purinoceptor 12

G-protein beta-gamma signalling	0.90	Thrombin signalling through proteinase activated receptors (PARs)	0.69
G beta-gamma signalling through PI3Kgamma	0.90	Activation of Kainate Receptors upon glutamate binding	0.68
Signal amplification	0.79	Inhibition of Insulin Secretion by Adrenaline/Noradrenaline	0.64
ADP signalling through P2Y purinoceptor 1	0.79	Glucagon-type ligand receptors	0.61

fMLP Pathway

CCR3 Pathway in Eosinophils	0.44	CXCR4 Pathway	0.39
VEGF and S-1P Signaling	0.44	Alpha-Adrenergic Signaling	0.38
fMLP Pathway	0.43	Huntington's Disease Pathway	0.30
Signal transduction Activation of PKC via G Protein coupled receptor	0.42

Development Dopamine D2 receptor transactivation of EGFR

Development Dopamine D2 receptor transactivation of EGFR	0.66	Apoptosis and survival BAD phosphorylation	0.41
Development Alpha 2 adrenergic receptor activation of ERK	0.66	BAD Phosphorylation	0.41
Chemotaxis CXCR4 signaling pathway	0.48

Regulation of Water Balance by Renal Aquaporins

	Regulation of Water Balance by Renal Aquaporins	0.85			Glucagon signaling in metabolic regulation	0.70
	Aquaporin-mediated transport	0.85			Cytoskeleton remodeling Role of PKA in cytoskeleton reorganisation	0.40

EphB-EphrinB Signaling

	EphB-EphrinB Signaling	0.58			Cytoskeleton remodeling Reverse signaling by ephrin B	0.34
	Ephrin-Eph Signaling	0.58

Pathways by source See SuperPaths
Show all pathways

Selected Downloadable PowerPoint Slides of GeneGlobe Pathway Central Maps for GNB3 (see all 71)

	Molecular Mechanisms of Cancer
	Intracellular Calcium Signaling
	CDK5 Pathway
	JNK Pathway
	ERK5 Signaling

2 Cell Signaling Technology (CST) Pathways for GNB3

	Ca, cAMP and Lipid Signaling
	Neuroscience

Selected GeneGo (Thomson Reuters) Pathways for GNB3 (see all 34)

	Signal transduction cAMP signaling
	G-protein signaling Regulation of p38 and JNK signaling mediated by G-proteins
	G-protein signaling G-Protein alpha-i signaling cascades
	Inhibitory action of Lipoxins and Resolvin E1 on neutrophil functions
	Signal transduction Activation of PKC via G-Protein coupled receptor

Selected BioSystems Pathways for GNB3 (see all 6)

	Myometrial Relaxation and Contraction Pathways
	G Protein Signaling Pathways
	SIDS Susceptibility Pathways
	Calcium Regulation in the Cardiac Cell
	Corticotropin-releasing hormone

Selected Reactome Pathways for GNB3 (see all 23)

	G alpha (12/13) signalling events
	G alpha (z) signalling events
	G-protein activation
	Ca2+ pathway
	Thromboxane signalling through TP receptor

2 PharmGKB Pathways for GNB3

	Beta-agonist/Beta-blocker Pathway, Pharmacodynamics
	Platelet Aggregation Inhibitor Pathway, Pharmacodynamics

Selected Kegg Pathways (Kegg details for GNB3) (see all 13):

	Ras signaling pathway
	Chemokine signaling pathway
	PI3K-Akt signaling pathway
	Circadian entrainment
	Retrograde endocannabinoid signaling

GNB3 for pathways About GeneDecksing

Custom Pathway & Disease-focused RT² Profiler PCR Arrays for GNB3
Interactions:

GeneGlobe Interaction Network for GNB3

STRING Interaction Network Preview (showing 5 interactants - click image to see 25)

Selected Interacting proteins for GNB3 (P16520^{2, 3} ENSP00000229264⁴) via UniProtKB, MINT, STRING, and/or I2D (see all 683)

Interactant		Interaction Details
GeneCard	External ID(s)	Interaction Details
GNG3	P63215³, ENSP00000294117⁴	I2D: score=2 STRING: ENSP00000294117
GNG4	P50150³, ENSP00000355556⁴	I2D: score=2 STRING: ENSP00000355556
GNG5	P63218³, ENSP00000359675⁴	I2D: score=2 STRING: ENSP00000359675
GNG13	Q9P2W3³, ENSP00000248150⁴	I2D: score=1 STRING: ENSP00000248150
GNG7	O60262³, ENSP00000371594⁴	I2D: score=2 STRING: ENSP00000371594

About this table

Gene Ontology (GO): Selected biological process terms (see all 7): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0006112	energy reserve metabolic process	TAS	--
GO:0006184	GTP catabolic process	TAS	9425898
GO:0007186	G-protein coupled receptor signaling pathway	TAS	2107550
GO:0007268	synaptic transmission	TAS	--
GO:0008217	regulation of blood pressure	TAS	9425898

GNB3 for ontologies About GeneDecksing

(Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
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Browse Small Molecules at EMD Millipore

Browse drugs & compounds from Enzo Life Sciences

Browse compounds at ApexBio

Compounds for GNB3 available from Tocris Bioscience About this table

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

3 HMDB Compounds for GNB3 About this table

Compound	Synonyms	CAS #	PubMed Ids
Guanosine diphosphate	5'-GDP (see all 10)	146-91-8	--
Guanosine monophosphate	5'-GMP (see all 14)	85-32-5	--
Guanosine triphosphate	5'-GTP (see all 10)	86-01-1	--

Selected Novoseek inferred chemical compound relationships for GNB3 gene (see all 19) About this table

Compound	-log (P-Val)	Hits	PubMed IDs for Articles with Shared Sentences (# sentences)
nppa	62.9	2	17036337 (1), 15699455 (1)
sibutramine	56.7	6	20359253 (2), 19687782 (2)
thiazide	46.9	2	16450155 (1)
sodium	31.5	4	9886871 (1), 11259340 (1), 16002097 (1), 17642146 (1)
guanine	30.4	10	17065478 (2), 15171355 (1), 19301222 (1), 18325076 (1) (see all 5)
clozapine	20.9	6	16141801 (2), 15179018 (1), 18855531 (1)
clonidine	20.7	1	12844135 (1)
hydrochlorothiazide	14.1	1	16450155 (1)
cholesterol	8.22	4	10701813 (2), 11434508 (1), 15042113 (1)
norepinephrine	7.47	3	16513451 (1), 17544870 (1), 17642146 (1)

Selected PharmGKB related drug/compound annotations for GNB3 gene (see all 11) About this table

Drug/compound	PharmGKB Annotation
antidepressants	CA
atorvastatin	CA
fluvastatin	CA
hmg coa reductase inhibitors	CA
lovastatin	CA
olanzapine	CA
pravastatin	CA
rosuvastatin	CA
sildenafil	CA
simvastatin	CA

GNB3 for compounds About GeneDecksing

(Secondary structures according to fRNAdb,
GenBank/EMBL/DDBJ Accessions according to
Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
RefSeq according to Entrez Gene,
DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
Conferences by KenesGroup, exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, and/or QIAGEN )
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REFSEQ mRNAs for GNB3 gene:

NM_002075.2

Unigene Cluster for GNB3:

Guanine nucleotide binding protein (G protein), beta polypeptide 3

Hs.631657 [show with all ESTs]

Unigene Representative Sequence: AB209283

9 Ensembl transcripts including schematic representations, and UCSC links where relevant:

ENST00000540458(uc001qrc.3) ENST00000229264(uc001qrd.3 uc009zfe.3)

ENST00000541257 ENST00000541978 ENST00000435982 ENST00000539127 ENST00000542868

ENST00000537035 ENST00000542751

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		SwitchGear 3'UTR luciferase reporter plasmid: GNB3 3' UTR sequence

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		Predesigned siRNA for gene silencing in human, mouse, rat GNB3

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		GenScript: all cDNA clones in your preferred vector: GNB3 (NM_002075)
		DNA2.0 Custom Codon Optimized Gene Synthesis Service for GNB3
		Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat GNB3

Primer Products:		OriGene qPCR primer pairs and template standards for GNB3 OriGene qSTAR qPCR primer pairs in human, mouse for GNB3
		Pre-validated RT² qPCR Primer Assay in human, mouse, rat GNB3
		QuantiTect SYBR Green Assays in human, mouse, rat GNB3
		QuantiFast Probe-based Assays in human, mouse, rat GNB3

Additional mRNA sequence:

AB209283.1 AB593098.1 AB593099.1 AF501884.1 AK313091.1 BC000115.1 BC002454.2 BC015920.1

BT009800.1 M31328.1 U47930.1

9 DOTS entries:

DT.121170390 DT.112163 DT.95155927 DT.121170335 DT.100779698 DT.40115198 DT.40265129 DT.95155920

DT.102841594

9 AceView cDNA sequences:

NM_002075 U47931 U47930 BC002454 BC000115 BC015920 AF501884 M31328

BT009800

GeneLoc Exon Structure

Selected Alternative Splicing Database (ASD) splice patterns (SP) for GNB3 (see all 7) About this scheme

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:															-

ECgene alternative splicing isoforms for GNB3

(RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, Protein expression images according to data from SPIRE ¹MOPED, ²PaxDb, and ³MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
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GNB3 expression in normal human tissues (normalized intensities) GNB3 embryonic expression: see
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS <intensity>^2/3
CGAP TAG: CTTTCTCCTT

About this image

GNB3 expression in embryonic tissues and stem cells About this table

Data from LifeMap, the Embryonic Development and Stem Cells Database
selected tissues (see all 4) fully expand


Brain (Nervous System) fully expand to see all 4 entries
Cerebral Cortex
Midbrain dopaminergic-like neurons

Neurons
Mature Rod Bipolar Cells Inner Nuclear Layer
Midbrain dopaminergic-like neurons

Eye (Sensory Organs)
Mature Rod Bipolar Cells Inner Nuclear Layer

Ovary (Reproductive System)
Oviduct

GNB3 Protein expression data from MOPED¹, PaxDb² and MaxQB³:

About this image

GNB3 Protein Expression

SOURCE GeneReport for Unigene cluster: Hs.631657

Custom PCR Arrays for GNB3

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		Pre-validated RT² qPCR Primer Assay in human, mouse, rat GNB3
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		QuantiFast Probe-based Assays in human, mouse, rat GNB3

In Situ
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(Orthologs according to ^1,2HomoloGene (²older version, for species not in ¹newer version), ³euGenes, ⁴SGD , ⁵MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or ⁶Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
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This gene was present in the common ancestor of animals.

Orthologs for GNB3 gene from Selected species (see all 14) About this table

Organism	Taxonomic classification	Gene	Description	Human Similarity	Orthology Type	Details
mouse (Mus musculus)	Mammalia	Gnb3^{1 , 5}	guanine nucleotide binding protein (G protein), beta more^{1, 5}	89.8(n)¹ 97.06(a)¹		6 (59.17 cM)⁵ 14695¹ NM_013530.1¹ NP_038558.1¹ 124834240⁵
chicken (Gallus gallus)	Aves	GNB3¹	guanine nucleotide binding protein (G protein), beta more	81.96(n) 93.24(a)		427945 XM_004938118.1 XP_004938175.1
lizard (Anolis carolinensis)	Reptilia	GNB3⁶	guanine nucleotide binding protein (G protein), be...	90(a)	1 ↔ 1	GL343453.1(391066-403708)
tropical clawed frog (Xenopus tropicalis)	Amphibia	gnb3¹	guanine nucleotide binding protein (G protein), beta more	77.55(n) 88.24(a)		496520 NM_001011107.1 NP_001011107.1
zebrafish (Danio rerio)	Actinopterygii	gnb3a¹	guanine nucleotide binding protein (G protein), beta more	71.96(n) 79.71(a)		436710 NM_001002437.1 NP_001002437.1
fruit fly (Drosophila melanogaster)	Insecta	G&bgr;13F³	G-protein coupled receptor protein signaling pathway more	77(a) (best of 2)		13F16 --
worm (Caenorhabditis elegans)	Secernentea	gpb-1³	guanine nucleotide-binding protein beta subunit	81(a)		II(11743881-11747549) --

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

(Paralogs according to ¹HomoloGene,
²Ensembl, and ³SIMAP, Pseudogenes according to ⁴Pseudogene.org Build 68)
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Paralogs for GNB3 gene

GNB2² GNB1² WDR47² GNB5² GNB4²

7 SIMAP similar genes for GNB3 using alignment to 8 protein entries: GBB3_HUMAN (see all proteins):

GNB1 GNB4 GNB2 GNB5 WDR61 PF20

WDR82

GNB3 for paralogs About GeneDecksing

(SNPs/Variants according to the ¹NCBI SNP Database, ²Ensembl, ³PupaSUITE, ⁴UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
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SNP ID	Valid	Clinical significance	Chr 12 pos	Sequence	#	AA Chg	Type	More	#	Allele freq	Pop	Total sample	More
Genomic Data					Transcription Related Data				Allele Frequencies
				--	--	--		--	--
rs45453800^1,2	C,F	--	6803600(+)	`TCTCTA/GTGGCC`	1	--	int¹		4		WA CSA EA	242
rs79991296^1,2	C	--	6803633(+)	`CCTCCC/AGGCTG`	1	--	int¹		2		WA	120
rs193184160^1,2		--	6803678(+)	`CCCTCC/TCCCCA`	1	--	int¹		0	--	--	--	--
rs146843660^1,2		--	6878844(+)	`AGGGCC/TGCCTT`	1	--	us2k¹		0	--	--	--	--
rs139729273^1,2		--	6878847(+)	`GCCGCC/GTTGAC`	1	--	us2k¹		0	--	--	--	--
rs190595883^1,2	C	--	6878879(+)	`TTCTGA/CGGTTT`	1	--	us2k¹		0	--	--	--	--
rs149686316^1,2		--	6878916(+)	`TAGTAC/TGTATT`	1	--	us2k¹		0	--	--	--	--
rs77410621^1,2	F	--	6878937(+)	`ATTGTA/GGGAAG`	1	--	us2k¹		1		WA	118
rs183305823^1,2		--	6878964(+)	`CCTAAA/TAGAAT`	1	--	us2k¹		0	--	--	--	--
rs3759347^1,2	C,F,A,H	--	6878978(+)	`GCAGCG/ACCTGG`	1	--	us2k¹		17		NS EA NA WA	2340

HapMap Linkage Disequilibrium report for GNB3 (6949118 - 6956557 bp)

Structural Variations
Database of Genomic Variants (DGV) 5 variations for GNB3: About this table

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

Human Gene Mutation Database (HGMD): GNB3

Site Specific Mutation Identification with PCR Assays

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(in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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OMIM gene information: 139130
OMIM disorders: 145500
Selected diseases for GNB3 (see all 77):    About MalaCards

syncope aortic coarctation essential hypertension nephropathy-hypertension

irritable bowel syndrome dyspepsia seasonal affective disorder hypertension

carotid stenosis cluster headache headache thyroid adenoma

mood disorder tardive dyskinesia adrenal adenoma gastroesophageal reflux disease

obesity major depressive disorder obesity, association with bipolar disorder

1 disease from the University of Copenhagen DISEASES database for GNB3:

Hypertension

GNB3 for disorders About GeneDecksing

Selected Novoseek inferred disease relationships for GNB3 gene (see all 31) About this table

Disease	-log (P-Val)	Hits	PubMed IDs for Articles with Shared Sentences (# sentences)
essential hypertension	79.1	39	10817859 (2), 19811352 (2), 15042113 (2), 17278960 (1) (see all 28)
obesity	60.9	59	15090636 (3), 12730030 (3), 19065529 (2), 19594364 (2) (see all 30)
genetic susceptibility	53.9	1	10713907 (1)
hypertension arterial	52	8	11230982 (3), 11816511 (1), 12439636 (1), 15332573 (1) (see all 6)
ventricular hypertrophy	41.1	2	12011775 (1), 15332573 (1)
thyroid adenoma	38.5	1	17136758 (1)
major depression	32.3	10	14647404 (2), 16302021 (1), 17943025 (1), 12476328 (1) (see all 7)
insulin resistance	31.9	10	12930636 (3), 11121369 (1), 12624279 (1), 17161225 (1) (see all 6)
mood disorders	28	3	11586049 (2), 11992559 (1)
schizophrenia	26.5	4	16139171 (1), 16141801 (1), 16964080 (1), 10884039 (1)

Genetic Association Database (GAD): GNB3
Human Genome Epidemiology (HuGE) Navigator: GNB3 (294 documents)

Export disorders for GNB3 gene to outside databases

(in PubMed. Associations of this gene to articles via ¹Entrez Gene, ²UniProtKB/Swiss-Prot, ³HGNC, ⁴GAD, ⁵PharmGKB, ⁶HMDB, ⁷DrugBank, ⁸UniProtKB/TrEMBL, ⁹ Novoseek, and/or ¹⁰fRNAdb)
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PubMed articles for GNB3 gene, integrated from 10 sources (see all 415):
(articles sorted by number of sources associating them with GNB3)

Utopia: connect your pdf to the dynamic
world of online information

Identification and ethnic distribution of major haplotypes in the gene GNB3 encoding the G-protein beta3 subunit. (PubMed id 11927836)^{1, 4, 9} Rosskopf D....Siffert W. (Pharmacogenetics 2002)
Homozygous 825T allele of the GNB3 protein influences the susceptibility of Japanese to dyspepsia. (PubMed id 17717746)^{1, 4, 9} Tahara T....Nakano H. (Dig. Dis. Sci. 2008)
G-protein beta3 subunit (GNB3) gene polymorphisms and cardiovascular disease: the Ludwigshafen Risk and Cardiovascular Health (LURIC) study. (PubMed id 16908025)^{1, 4, 9} Renner W....MAorz W. (Atherosclerosis 2007)
The 825C>T polymorphism of the G-protein beta-3 subunit gene (GNB3) and breast cancer. (PubMed id 15019160)^{1, 4, 9} Krippl P....Samonigg H. (Cancer Lett. 2004)
GNB3 gene C825T and ACE gene I/D polymorphisms in essential hypertension in a Kazakh genetic isolate. (PubMed id 15042113)^{1, 4, 9} Wang X....Wen H. (J Hum Hypertens 2004)
G protein beta 3 gene: structure, promoter, and additional polymorphisms. (PubMed id 10904009)^{1, 2, 9} Rosskopf D.... Siffert W. (Hypertension 2000)
[Association of alpha-adducin gene and G-protein beta3-subunit gene with essential hypertension in Chinese]. (PubMed id 17825147)^{1, 4, 9} Huang X.H....Hui R.T. (Zhonghua Yi Xue Za Zhi 2007)
[Association between G-protein beta3 subunit (GNB(3)) gene C825T polymorphism, hypertension, insulin resistance and obesity]. (PubMed id 12930636)^{1, 4, 9} Chen Y.Y....Hui R.T. (Zhonghua Yi Xue Za Zhi 2003)
A preliminary candidate genotype-intermediate phenotype study of satiation and gastric motor function in obesity. (PubMed id 19876010)^{1, 4, 9} Papathanasopoulos A....Zinsmeister A.R. (Obesity (Silver Spring) 2010)
[Analysis of the GNB3 gene 825C/T polymorphism in non-obese and obese Chinese]. (PubMed id 19065529)^{1, 4, 9} Wang X....Liu B. (Zhonghua Yi Xue Yi Chuan Xue Za Zhi 2008)

(in PubMed, OMIM, and NCBI Bookshelf)
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		AND	OR
Aliases
Disorders
Free Text

Query String		PubMed OMIM NCBI Bookshelf
	(Note: In FireFox, select the above section and copy using Ctrl-C)

(According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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Entrez Gene: 2784	HGNC: 4400	AceView: GNB3	Ensembl:ENSG00000111664	euGenes: HUgn2784
ECgene: GNB3	Kegg: 2784	H-InvDB: GNB3

(According to HUGE)
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(According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
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Name	Description
PharmGKB entry for GNB3	Pharmacogenomics, SNPs, Pathways

Intellectual Property for GNB3 gene
(Patent information from GeneIP, Licensable technologies from WIS Yeda, Salk, Tufts, IP news from LifeMap Sciences, Inc.)

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Patent Information for GNB3 gene:
Search GeneIP for patents involving GNB3

GeneCards and IP:
Japan Patent Office Licenses GeneCards European Patent Office Licenses GeneCards Improving the IP Search

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