GNB3 (G protein subunit beta 3)

Gene

• Entrez ID: 2784
• Gene name: G protein subunit beta 3
• Gene symbol: GNB3
• Synonyms (NCBI Gene): CSNB1H, HG2D
• Chromosome: 12
• Chromosome location: 12p13.31
• Summary: 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 enc

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs140263599	C>T	Pathogenic	Missense variant, coding sequence variant
rs879253774	AGA>-	Pathogenic	Coding sequence variant, inframe deletion

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT029954	hsa-miR-26b-5p	Microarray	19088304
MIRT1023943	hsa-miR-204	CLIP-seq
MIRT1023944	hsa-miR-211	CLIP-seq
MIRT1023945	hsa-miR-2355-3p	CLIP-seq
MIRT1023946	hsa-miR-3150a-3p	CLIP-seq
MIRT1023947	hsa-miR-3175	CLIP-seq
MIRT1023948	hsa-miR-3184	CLIP-seq
MIRT1023949	hsa-miR-323b-5p	CLIP-seq
MIRT1023950	hsa-miR-3925-3p	CLIP-seq
MIRT1023951	hsa-miR-423-5p	CLIP-seq
MIRT1023952	hsa-miR-4436b-5p	CLIP-seq
MIRT1023953	hsa-miR-4446-3p	CLIP-seq
MIRT1023954	hsa-miR-4492	CLIP-seq
MIRT1023955	hsa-miR-4498	CLIP-seq
MIRT1023956	hsa-miR-4505	CLIP-seq
MIRT1023957	hsa-miR-4667-5p	CLIP-seq
MIRT1023958	hsa-miR-4688	CLIP-seq
MIRT1023959	hsa-miR-4700-5p	CLIP-seq
MIRT1023960	hsa-miR-4728-5p	CLIP-seq
MIRT1023961	hsa-miR-4731-5p	CLIP-seq
MIRT1023962	hsa-miR-4736	CLIP-seq
MIRT1023963	hsa-miR-4755-5p	CLIP-seq
MIRT1023964	hsa-miR-486-3p	CLIP-seq
MIRT1023965	hsa-miR-515-5p	CLIP-seq
MIRT1023966	hsa-miR-623	CLIP-seq
MIRT1023967	hsa-miR-657	CLIP-seq
MIRT1023968	hsa-miR-676	CLIP-seq
MIRT1023969	hsa-miR-762	CLIP-seq
MIRT1023970	hsa-miR-766	CLIP-seq
MIRT1023971	hsa-miR-939	CLIP-seq
MIRT2681714	hsa-miR-1273f	CLIP-seq
MIRT2681715	hsa-miR-143	CLIP-seq
MIRT2681716	hsa-miR-3140-5p	CLIP-seq
MIRT2681717	hsa-miR-3622a-3p	CLIP-seq
MIRT2681718	hsa-miR-3622b-3p	CLIP-seq
MIRT2681719	hsa-miR-3669	CLIP-seq
MIRT2681720	hsa-miR-3925-5p	CLIP-seq
MIRT2681721	hsa-miR-4708-5p	CLIP-seq
MIRT2681722	hsa-miR-4770	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0003924	Function	GTPase activity	TAS	9425898
GO:0005515	Function	Protein binding	IPI	23773523, 32296183
GO:0005737	Component	Cytoplasm	IBA
GO:0005829	Component	Cytosol	TAS
GO:0005834	Component	Heterotrimeric G-protein complex	IBA
GO:0005834	Component	Heterotrimeric G-protein complex	IEA
GO:0005886	Component	Plasma membrane	TAS
GO:0006884	Process	Cell volume homeostasis	IGI	29206867
GO:0007165	Process	Signal transduction	IEA
GO:0007186	Process	G protein-coupled receptor signaling pathway	IBA
GO:0007186	Process	G protein-coupled receptor signaling pathway	TAS	2107550
GO:0008217	Process	Regulation of blood pressure	TAS	9425898
GO:0010468	Process	Regulation of gene expression	IGI	29206867
GO:0010906	Process	Regulation of glucose metabolic process	IGI	29206867
GO:0030159	Function	Signaling receptor complex adaptor activity	IBA
GO:0030425	Component	Dendrite	IEA
GO:0030507	Function	Spectrin binding	IEA
GO:0032350	Process	Regulation of hormone metabolic process	IGI	29206867
GO:0044297	Component	Cell body	IEA
GO:0045598	Process	Regulation of fat cell differentiation	IGI	29206867
GO:0051020	Function	GTPase binding	IPI	19255495
GO:0060259	Process	Regulation of feeding behavior	IGI	29206867
GO:0070062	Component	Extracellular exosome	HDA	23533145
GO:0090181	Process	Regulation of cholesterol metabolic process	IGI	29206867
GO:0090207	Process	Regulation of triglyceride metabolic process	IGI	29206867
GO:0090325	Process	Regulation of locomotion involved in locomotory behavior	IGI	29206867
GO:1903725	Process	Regulation of phospholipid metabolic process	IGI	29206867

Other IDs

• MIM: 139130
• HGNC: 4400
• e!Ensembl: ENSG00000111664

Protein

• UniProt ID: P16520
• Protein name: Guanine nucleotide-binding protein G(I)/G(S)/G(T) subunit beta-3 (Transducin beta chain 3)
• Protein 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 prote
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF00400	WD40	45 → 83	WD domain, G-beta repeat	Repeat
  PF00400	WD40	86 → 125	WD domain, G-beta repeat	Repeat
  PF00400	WD40	133 → 170	WD domain, G-beta repeat	Repeat
  PF00400	WD40	174 → 212	WD domain, G-beta repeat	Repeat
  PF00400	WD40	216 → 254	WD domain, G-beta repeat	Repeat
  PF00400	WD40	259 → 298	WD domain, G-beta repeat	Repeat
  PF00400	WD40	302 → 340	WD domain, G-beta repeat	Repeat

• Sequence:

  MGEMEQLRQEAEQLKKQIADARKACADVTLAELVSGLEVVGRVQMRTRRTLRGHLAKIYA
  MHWATDSKLLVSASQDGKLIVWDSYTTNKVHAIPLRSSWVMTCAYAPSGNFVACGGLDNM
  CSIYNLKSREGNVKVSRELSAHTGYLSCCRFLDDNNIVTSSGDTTCALWDIETGQQKTVF
  VGHTGDCMSLAVSPDFNLFISGACDASAKLWDVREGTCRQTFTGHESDINAICFFPNGEA
  ICTGSDDASCRLFDLRADQELICFSHESIICGITSVAFSLSGRLLFAGYDDFNCNVWDSM
  KSERVGILSGHDNRVSCLGVTADGMAVATGSWDSFLKIWN

• Sequence length: 340

Pathways

KEGG:

Ras signaling pathway
Chemokine signaling pathway
Hormone signaling
PI3K-Akt signaling pathway
Apelin signaling pathway
Circadian entrainment
Retrograde endocannabinoid signaling
Glutamatergic synapse
Cholinergic synapse
Serotonergic synapse
GABAergic synapse
Dopaminergic synapse
Taste transduction
Relaxin signaling pathway
Morphine addiction
Alcoholism
Human cytomegalovirus infection
Kaposi sarcoma-associated herpesvirus infection
Human immunodeficiency virus 1 infection
Pathways in cancer

Reactome:

Activation of G protein gated Potassium channels
Glucagon signaling in metabolic regulation
G-protein activation
Glucagon-like Peptide-1 (GLP1) regulates insulin secretion
Synthesis, secretion, and inactivation of Glucagon-like Peptide-1 (GLP-1)
ADP signalling through P2Y purinoceptor 12
G beta:gamma signalling through PI3Kgamma
Prostacyclin signalling through prostacyclin receptor
Adrenaline,noradrenaline inhibits insulin secretion
Ca2+ pathway
G alpha (q) signalling events
G alpha (12/13) signalling events
G beta:gamma signalling through PLC beta
G alpha (s) signalling events
ADP signalling through P2Y purinoceptor 1
G alpha (i) signalling events
G alpha (z) signalling events
Glucagon-type ligand receptors
Thromboxane signalling through TP receptor
Vasopressin regulates renal water homeostasis via Aquaporins
Thrombin signalling through proteinase activated receptors (PARs)
Presynaptic function of Kainate receptors
Cooperation of PDCL (PhLP1) and TRiC/CCT in G-protein beta folding
G beta:gamma signalling through BTK
G beta:gamma signalling through CDC42
Extra-nuclear estrogen signaling
ADORA2B mediated anti-inflammatory cytokines production
Inhibition of voltage gated Ca2+ channels via Gbeta/gamma subunits

Associated diseases

Causal
Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Congenital stationary night blindness 1H	Pathogenic	rs879253773, rs879253774	RCV000234969 RCV000234964

Unknown
Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Cervical cancer	Uncertain significance	rs113437937	RCV005930708
Clear cell carcinoma of kidney	Conflicting classifications of pathogenicity	rs61747607	RCV005902449
Essential hypertension, genetic	Uncertain significance	rs150593798	RCV005400495
GNB3 POLYMORPHISM	Benign	rs5443	RCV001824026
GNB3-related condition	Likely benign; Benign	rs138319468, rs782363697, rs5443	RCV004758798 RCV004758889 RCV004758674
Hypertension, essential, susceptibility to	Benign	rs5443	RCV001824025
Ovarian serous cystadenocarcinoma	Conflicting classifications of pathogenicity	rs61747607	RCV005902450
Papillary renal cell carcinoma type 1	Uncertain significance	rs782189035	RCV005925573
Retinal dystrophy	Uncertain significance	rs140263599	RCV004816450
Thyroid cancer, nonmedullary, 1	Likely benign	rs367711032	RCV005926041

Associations from Text Mining
Disease Name	Relationship Type	References
Allergic Fungal Sinusitis	Associate	31137020
Angina Unstable	Associate	20096003
Anxiety	Associate	29148080
Blood Platelet Disorders	Associate	17663734
Carcinoma Squamous Cell	Associate	27170308
Cardiomyopathy Dilated	Associate	33860048
Cardiomyopathy Dilated with Left Ventricular Noncompaction	Associate	37894940
Cardiovascular Diseases	Associate	28067546, 36077181
Cerebrovascular Disorders	Associate	28067546
Cognition Disorders	Associate	25964245
Colorectal Neoplasms	Associate	35373932
Coronary Artery Disease	Associate	17663734, 20096003, 28067546
Death	Associate	20096003
Depressive Disorder	Associate	14604448, 29148080, 31185929
Diabetes Mellitus	Associate	19597293
Diabetes Mellitus Type 1	Associate	19597293
Diabetes Mellitus Type 2	Associate	10200987
Diabetic Nephropathies	Associate	10200987
Diabetic Neuropathies	Associate	19597293
Drug Hypersensitivity	Associate	29148080
Dyslipidemias	Associate	22985949
Dyspepsia	Associate	18511740, 19174788
Erectile Dysfunction	Associate	22985949, 24531084, 30101547
Essential Hypertension	Associate	12109775, 15200440, 19811352, 21473734, 21532295, 23691120, 26712426, 28067546, 32555714, 35489051
Gastroesophageal Reflux	Associate	29148080
Gastrointestinal Diseases	Associate	22855291
Gastroschisis	Associate	27616475
Gestational Weight Gain	Associate	29469022
Glomerulonephritis IGA	Associate	15200440
Glucose Intolerance	Associate	18413224
Heart Failure	Associate	25306451, 30978507
HELLP Syndrome	Associate	15369653
Hemorrhage	Associate	20096003
Hyperlipidemias	Associate	24722130
Hypertension	Associate	10200987, 11688759, 12109775, 15090636, 16707857, 18248681, 18413224, 19148102, 20944660, 21198262, 21473734, 21532295, 23691120, 24722130, 28067546, 29848945, 29853161, 38126445, 38573093
Hypertension Pulmonary	Associate	24531084
Hypertrophy Left Ventricular	Associate	11768721
Hyperuricemia	Associate	16707857
Impotence Vasculogenic	Associate	22985949
Infections	Associate	22855291
Insulin Resistance	Associate	12109775, 15090636, 18413224, 24722130
Irritable Bowel Syndrome	Associate	18511740, 19309415, 22855291, 25037115
Kidney Failure Chronic	Associate	15287194
Lung Diseases	Associate	28212552
Lymphatic Metastasis	Inhibit	27170308
Lymphoma Non Hodgkin	Associate	21198262
Myocardial Infarction	Associate	20096003, 22408428, 36077181
Neoplasms	Associate	36115836
Obesity	Associate	10523525, 12109775, 15090636, 16707857, 22408428, 24827746, 27515755, 29469022, 29937877, 35373932
Overweight	Associate	29469022
Pain	Associate	19309415, 29148080
Pancreatic Neoplasms	Associate	33386701
Peripheral Arterial Occlusive Disease 1	Associate	36077181
Polycystic Kidney Autosomal Dominant	Associate	15287194
Polyneuropathies	Associate	19597293
Pre Eclampsia	Associate	15369653
Prehypertension	Associate	24722130
Pulmonary Arterial Hypertension	Associate	34796008, 38126445
Pulmonary edema of mountaineers	Associate	28212552
Renal Insufficiency Chronic	Associate	19056482
Retinoblastoma	Associate	34187205
Stomach Neoplasms	Associate	21198262
Teratozoospermia	Associate	29901159
Thoracic Outlet Syndrome	Associate	19597293
Vascular Diseases	Associate	19811352
Ventricular Remodeling	Associate	21532295
Vesico Ureteral Reflux	Associate	22558067, 27988909
Visceral Pain	Associate	19174788
Vulvar Neoplasms	Associate	27170308
Weight Gain	Associate	25510251, 29469022
Weight Loss	Associate	18725220, 29138870