GNB4 (G protein subunit beta 4)

2006-10-01 Affiliation

Identity

HGNC

GNB4

LOCATION

3q26.33

LOCUSID

59345

ALIAS

CMTD1F

FUSION GENES

Show Gene Fusions

Non-annotated gene. Preliminary data : if you are an author who wish to write a full paper/card on this gene, contribute in submission tool

Other Information

Locus ID:

NCBI: 59345
MIM: 610863
HGNC: 20731
Ensembl: ENSG00000114450

Variants:

dbSNP: 59345
ClinVar: 59345
TCGA: ENSG00000114450
COSMIC: GNB4

RNA/Proteins

Gene ID	Transcript ID	Uniprot
ENSG00000114450	ENST00000232564	Q9HAV0
ENSG00000114450	ENST00000466899	H7C5J5
ENSG00000114450	ENST00000468623	Q9HAV0
ENSG00000114450	ENST00000497513	C9JD14

Expression (GTEx)

Adipose - Subcutaneous

Adipose - Visceral

Adrenal Gland

Artery - Aorta

Artery - Tibial

Bladder

Brain - Amygdala

Brain - Anterior cingulate cortex

Brain - Caudate

Brain - Cerebellar Hemisphere

Brain - Cerebellum

Brain - Cortex

Brain - Frontal Cortex

Brain - Hippocampus

Brain - Hypothalamus

Brain - Nucleus accumbens

Brain - Putamen

Brain - Spinal cord

Brain - Substantia nigra

Breast - Mammary Tissue

Cells - Cultured fibroblasts

Cells - EBV - transformed lymphocytes

Cervix - Ectocervix

Cervix - Endocervix

Colon - Sigmoid

Colon - Transverse

Esophagus - Gastroesophageal Junction

Esophagus - Mucosa

Esophagus - Muscularis

Fallopian Tube

Heart - Atrial Appendage

Heart - Left Ventricle

Kidney - Cortex

Kidney - Medulla

Liver

Lung

Minor Salivary Gland

Muscle - Skeletal

Nerve - Tibial

Ovary

Pancreas

Pituitary

Prostate

Skin - Not Sun Exposed

Skin - Sun Exposed

Small Intestine - Terminal Ileum

Spleen

Stomach

Testis

Thyroid

Uterus

Vagina

Whole Blood

Pathways

Pathway	Source	External ID
Pathways in cancer	KEGG	hsa05200
Chemokine signaling pathway	KEGG	ko04062
Chemokine signaling pathway	KEGG	hsa04062
Glutamatergic synapse	KEGG	ko04724
Glutamatergic synapse	KEGG	hsa04724
Cholinergic synapse	KEGG	hsa04725
GABAergic synapse	KEGG	ko04727
GABAergic synapse	KEGG	hsa04727
Dopaminergic synapse	KEGG	ko04728
Dopaminergic synapse	KEGG	hsa04728
Serotonergic synapse	KEGG	hsa04726
Retrograde endocannabinoid signaling	KEGG	hsa04723
Retrograde endocannabinoid signaling	KEGG	ko04723
Morphine addiction	KEGG	hsa05032
Morphine addiction	KEGG	ko05032
Alcoholism	KEGG	hsa05034
Alcoholism	KEGG	ko05034
PI3K-Akt signaling pathway	KEGG	hsa04151
PI3K-Akt signaling pathway	KEGG	ko04151
Circadian entrainment	KEGG	hsa04713
Circadian entrainment	KEGG	ko04713
Ras signaling pathway	KEGG	hsa04014
Metabolism of proteins	REACTOME	R-HSA-392499
Protein folding	REACTOME	R-HSA-391251
Chaperonin-mediated protein folding	REACTOME	R-HSA-390466
Neuronal System	REACTOME	R-HSA-112316
Transmission across Chemical Synapses	REACTOME	R-HSA-112315
Neurotransmitter Receptor Binding And Downstream Transmission In The Postsynaptic Cell	REACTOME	R-HSA-112314
Activation of Kainate Receptors upon glutamate binding	REACTOME	R-HSA-451326
Presynaptic function of Kainate receptors	REACTOME	R-HSA-500657
Hemostasis	REACTOME	R-HSA-109582
Platelet homeostasis	REACTOME	R-HSA-418346
Prostacyclin signalling through prostacyclin receptor	REACTOME	R-HSA-392851
Platelet activation, signaling and aggregation	REACTOME	R-HSA-76002
Signal amplification	REACTOME	R-HSA-392518
ADP signalling through P2Y purinoceptor 12	REACTOME	R-HSA-392170
ADP signalling through P2Y purinoceptor 1	REACTOME	R-HSA-418592
Thromboxane signalling through TP receptor	REACTOME	R-HSA-428930
Thrombin signalling through proteinase activated receptors (PARs)	REACTOME	R-HSA-456926
Signal Transduction	REACTOME	R-HSA-162582
Signaling by GPCR	REACTOME	R-HSA-372790
GPCR ligand binding	REACTOME	R-HSA-500792
Class B/2 (Secretin family receptors)	REACTOME	R-HSA-373080
Glucagon-type ligand receptors	REACTOME	R-HSA-420092
GPCR downstream signaling	REACTOME	R-HSA-388396
G alpha (s) signalling events	REACTOME	R-HSA-418555
G alpha (i) signalling events	REACTOME	R-HSA-418594
G alpha (z) signalling events	REACTOME	R-HSA-418597
G alpha (q) signalling events	REACTOME	R-HSA-416476
G alpha (12/13) signalling events	REACTOME	R-HSA-416482
G-protein beta:gamma signalling	REACTOME	R-HSA-397795
G beta:gamma signalling through PI3Kgamma	REACTOME	R-HSA-392451
G beta:gamma signalling through PLC beta	REACTOME	R-HSA-418217
Opioid Signalling	REACTOME	R-HSA-111885
G-protein activation	REACTOME	R-HSA-202040
Gastrin-CREB signalling pathway via PKC and MAPK	REACTOME	R-HSA-881907
Signaling by Wnt	REACTOME	R-HSA-195721
Beta-catenin independent WNT signaling	REACTOME	R-HSA-3858494
Ca2+ pathway	REACTOME	R-HSA-4086398
Transmembrane transport of small molecules	REACTOME	R-HSA-382551
Aquaporin-mediated transport	REACTOME	R-HSA-445717
Vasopressin regulates renal water homeostasis via Aquaporins	REACTOME	R-HSA-432040
Metabolism	REACTOME	R-HSA-1430728
Integration of energy metabolism	REACTOME	R-HSA-163685
Regulation of insulin secretion	REACTOME	R-HSA-422356
Adrenaline,noradrenaline inhibits insulin secretion	REACTOME	R-HSA-400042
Glucagon-like Peptide-1 (GLP1) regulates insulin secretion	REACTOME	R-HSA-381676
Glucagon signaling in metabolic regulation	REACTOME	R-HSA-163359
Cooperation of PDCL (PhLP1) and TRiC/CCT in G-protein beta folding	REACTOME	R-HSA-6814122
Apelin signaling pathway	KEGG	hsa04371

Protein levels (Protein atlas)

Not detected

Low

Medium

High

PharmGKB

Entity ID	Name	Type	Evidence	Association
PA33384	PLCB1	Gene	Pathway	associated
PA33385	PLCB2	Gene	Pathway	associated
PA33386	PLCB3	Gene	Pathway	associated
PA33387	PLCB4	Gene	Pathway	associated

References

Pubmed ID	Year	Title	Citations
12454992	2003	G protein subunit G gamma 13 is coexpressed with G alpha o, G beta 3, and G beta 4 in retinal ON bipolar cells.	67
23434117	2013	Exome sequencing identifies GNB4 mutations as a cause of dominant intermediate Charcot-Marie-Tooth disease.	10
12782285	2003	The human G protein beta4 subunit: gene structure, expression, Ggamma and effector interaction.	7
18815590	2008	Characterization of intron-1 haplotypes of the G protein beta 4 subunit gene--association with survival and progression in patients with urothelial bladder carcinoma.	3
18815590	2008	Characterization of intron-1 haplotypes of the G protein beta 4 subunit gene--association with survival and progression in patients with urothelial bladder carcinoma.	3
19414374	2009	Association of GNB4 intron-1 haplotypes with survival in patients with UICC stage III and IV colorectal carcinoma.	3
19414374	2009	Association of GNB4 intron-1 haplotypes with survival in patients with UICC stage III and IV colorectal carcinoma.	3
25916507	2015	Gβ4γ1 as a modulator of M3 muscarinic receptor signalling and novel roles of Gβ1 subunits in the modulation of cellular signalling.	2
28642160	2017	A novel missense variant (Gln220Arg) of GNB4 encoding guanine nucleotide-binding protein, subunit beta-4 in a Japanese family with autosomal dominant motor and sensory neuropathy.	1
30103729	2018	A suppressive role of guanine nucleotide-binding protein subunit beta-4 inhibited by DNA methylation in the growth of anti-estrogen resistant breast cancer cells.	0

Citation

Dessen P

GNB4 (G protein subunit beta 4)

Atlas Genet Cytogenet Oncol Haematol. 2006-10-01

Online version: http://atlasgeneticsoncology.org/gene/43287/gnb4