Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.	2784
Gene name Gene Name - the full gene name approved by the HGNC.	G protein subunit beta 3
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.	GNB3
Synonyms (NCBI Gene) Gene synonyms aliases	CSNB1H, HG2D
Disease Acronyms (UniProt) Disease acronyms from UniProt database	CSNB1H
Chromosome Chromosome number	12
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.	12p13.31
Summary Summary of gene provided in NCBI Entrez 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 enc

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

Show/Hide all(39)

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

Show/Hide all(25)

GO ID	Ontology	Definition	Evidence	Reference
GO:0003924	Function	GTPase activity	TAS	9425898
GO:0005515	Function	Protein binding	IPI	23773523
GO:0005737	Component	Cytoplasm	IBA	21873635
GO:0005829	Component	Cytosol	TAS
GO:0005834	Component	Heterotrimeric G-protein complex	IBA	21873635
GO:0005886	Component	Plasma membrane	TAS
GO:0006457	Process	Protein folding	TAS
GO:0006884	Process	Cell volume homeostasis	IGI	29206867
GO:0007186	Process	G protein-coupled receptor signaling pathway	IBA	21873635
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:0030425	Component	Dendrite	IEA
GO:0030507	Function	Spectrin binding	IEA
GO:0031682	Function	G-protein gamma-subunit binding	IBA	21873635
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

MIM	HGNC	e!Ensembl
139130	4400	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

Interactions

View interactions

	KEGG		Reactome
	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		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

Show/Hide Causal Diseases (9)

Disease term	Disease name	dbSNP ID	References
Causal
Congenital stationary night blindness	Cone-rod synaptic disorder, congenital nonprogressive, Congenital stationary night blindness	rs786205249, rs80338903, rs62638214, rs62638624, rs62638202, rs62638197, rs766862238, rs267607140, rs267607141, rs62638191, rs62638193, rs62637021, rs62637027, rs104894910, rs104894911 View all (100 more)
Coronary artery disease	Coronary Artery Disease	rs137852988, rs121918313, rs121918529, rs121918531, rs137852340, rs1555800701, rs1215189537	16141801
Diabetes mellitus	Diabetes Mellitus, Non-Insulin-Dependent	rs587776515, rs61730328, rs606231121, rs606231122, rs79020217, rs77625743, rs78378398, rs606231123, rs1362648752, rs104893649, rs80356624, rs80356616, rs80356625, rs80356611, rs104894237 View all (293 more)	12511541
Hypertension	Hypertensive disease, Essential Hypertension	rs13306026	16141801, 15961981
Myopia	Myopia, Severe myopia	rs387907109, rs146936371, rs587776903, rs786205127, rs398122836, rs199624584, rs587777625, rs786205216, rs758872875, rs764211125, rs1135402746, rs765658563, rs1555941129, rs1555941116, rs199923805 View all (6 more)	27182965
Nystagmus	Nystagmus	rs137852207, rs137852208, rs1928435502, rs137852209, rs137852210, rs1929191668, rs137852211, rs137852212, rs2124209414, rs387906720, rs387906721, rs1602791884, rs786205896
Obesity	Obesity	rs74315349, rs1474810899, rs121918111, rs796065034, rs753856820, rs796065035, rs121918112, rs104894023, rs137852821, rs1580764441, rs137852822, rs137852823, rs137852824, rs13447324, rs121913562 View all (27 more)	16141801, 15961981
Schizophrenia	Schizophrenia	rs13447324, rs387906932, rs387906933, rs863223354, rs863223355, rs776061422, rs863223349, rs748809996, rs759748655, rs863223353, rs863223350, rs863223356, rs781821239, rs863223348, rs863223346 View all (12 more)	16139171
Seizure	Complex partial seizures, Generalized seizures, Visual seizure, Tonic - clonic seizures, Single Seizure	rs587784365, rs28939683, rs74315390, rs28939684, rs74315391, rs267607198, rs74315392, rs118192244, rs118192250, rs121917749, rs121917750, rs121917751, rs121917752, rs267606670, rs267607061 View all (179 more)	18855531

Show/Hide Unknown Diseases (2)

Disease term	Disease name	References	Source
Unknown
Mental depression	Mental Depression, Depressive disorder, Unipolar Depression, Major Depressive Disorder	25037115, 24882179, 21709600, 15057736, 16897596, 17943025, 22222462, 18325652, 20826553	ClinVar
Congenital stationary night blindness, x-linked	X-Linked Csnb		ClinVar

Show/Hide Text Mining Associations (71)

Disease Name	Relationship Type	References
Associations from Text Mining
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 View all (4 more)
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

GNB3 (G protein subunit beta 3)