PLCB3 (phospholipase C beta 3)

2003-02-01 Affiliation

Identity

HGNC

PLCB3

LOCATION

11q13.1

LOCUSID

5331

ALIAS

SMDCD

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: 5331
MIM: 600230
HGNC: 9056
Ensembl: ENSG00000149782

Variants:

dbSNP: 5331
ClinVar: 5331
TCGA: ENSG00000149782
COSMIC: PLCB3

RNA/Proteins

Gene ID	Transcript ID	Uniprot
ENSG00000149782	ENST00000279230	Q01970
ENSG00000149782	ENST00000325234	Q01970
ENSG00000149782	ENST00000540288	Q01970

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
Inositol phosphate metabolism	KEGG	ko00562
Calcium signaling pathway	KEGG	ko04020
Phosphatidylinositol signaling system	KEGG	ko04070
Wnt signaling pathway	KEGG	ko04310
Gap junction	KEGG	ko04540
Long-term potentiation	KEGG	ko04720
Long-term depression	KEGG	ko04730
GnRH signaling pathway	KEGG	ko04912
Melanogenesis	KEGG	ko04916
Alzheimer's disease	KEGG	ko05010
Huntington's disease	KEGG	ko05016
Inositol phosphate metabolism	KEGG	hsa00562
Calcium signaling pathway	KEGG	hsa04020
Phosphatidylinositol signaling system	KEGG	hsa04070
Wnt signaling pathway	KEGG	hsa04310
Gap junction	KEGG	hsa04540
Long-term potentiation	KEGG	hsa04720
Long-term depression	KEGG	hsa04730
GnRH signaling pathway	KEGG	hsa04912
Melanogenesis	KEGG	hsa04916
Alzheimer's disease	KEGG	hsa05010
Huntington's disease	KEGG	hsa05016
Pathways in cancer	KEGG	hsa05200
Vascular smooth muscle contraction	KEGG	hsa04270
Chemokine signaling pathway	KEGG	ko04062
Vascular smooth muscle contraction	KEGG	ko04270
Chemokine signaling pathway	KEGG	hsa04062
NOD-like receptor signaling pathway	KEGG	ko04621
NOD-like receptor signaling pathway	KEGG	hsa04621
Metabolic pathways	KEGG	hsa01100
Chagas disease (American trypanosomiasis)	KEGG	ko05142
Chagas disease (American trypanosomiasis)	KEGG	hsa05142
Salivary secretion	KEGG	ko04970
Salivary secretion	KEGG	hsa04970
Gastric acid secretion	KEGG	ko04971
Gastric acid secretion	KEGG	hsa04971
Amoebiasis	KEGG	ko05146
Amoebiasis	KEGG	hsa05146
Pancreatic secretion	KEGG	ko04972
Pancreatic secretion	KEGG	hsa04972
African trypanosomiasis	KEGG	ko05143
African trypanosomiasis	KEGG	hsa05143
Endocrine and other factor-regulated calcium reabsorption	KEGG	ko04961
Endocrine and other factor-regulated calcium reabsorption	KEGG	hsa04961
Glutamatergic synapse	KEGG	ko04724
Glutamatergic synapse	KEGG	hsa04724
Cholinergic synapse	KEGG	hsa04725
Inositol phosphate metabolism, PI=> PIP2 => Ins(1,4,5)P3 => Ins(1,3,4,5)P4	KEGG	hsa_M00130
Inositol phosphate metabolism, PI=> PIP2 => Ins(1,4,5)P3 => Ins(1,3,4,5)P4	KEGG	M00130
Dopaminergic synapse	KEGG	ko04728
Dopaminergic synapse	KEGG	hsa04728
Serotonergic synapse	KEGG	hsa04726
Retrograde endocannabinoid signaling	KEGG	hsa04723
Retrograde endocannabinoid signaling	KEGG	ko04723
Circadian entrainment	KEGG	hsa04713
Circadian entrainment	KEGG	ko04713
Insulin secretion	KEGG	hsa04911
Estrogen signaling pathway	KEGG	hsa04915
Estrogen signaling pathway	KEGG	ko04915
Thyroid hormone synthesis	KEGG	hsa04918
Thyroid hormone synthesis	KEGG	ko04918
Rap1 signaling pathway	KEGG	hsa04015
Rap1 signaling pathway	KEGG	ko04015
Adrenergic signaling in cardiomyocytes	KEGG	hsa04261
Adrenergic signaling in cardiomyocytes	KEGG	ko04261
Thyroid hormone signaling pathway	KEGG	hsa04919
Inflammatory mediator regulation of TRP channels	KEGG	hsa04750
Inflammatory mediator regulation of TRP channels	KEGG	ko04750
Platelet activation	KEGG	hsa04611
Oxytocin signaling pathway	KEGG	hsa04921
Oxytocin signaling pathway	KEGG	ko04921
cGMP-PKG signaling pathway	KEGG	hsa04022
cGMP-PKG signaling pathway	KEGG	ko04022
Sphingolipid signaling pathway	KEGG	hsa04071
Glucagon signaling pathway	KEGG	hsa04922
Sphingolipid signaling pathway	KEGG	ko04071
Glucagon signaling pathway	KEGG	ko04922
Renin secretion	KEGG	hsa04924
Renin secretion	KEGG	ko04924
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
Signal Transduction	REACTOME	R-HSA-162582
Signaling by GPCR	REACTOME	R-HSA-372790
GPCR downstream signaling	REACTOME	R-HSA-388396
G alpha (q) signalling events	REACTOME	R-HSA-416476
G-protein beta:gamma signalling	REACTOME	R-HSA-397795
G beta:gamma signalling through PLC beta	REACTOME	R-HSA-418217
Opioid Signalling	REACTOME	R-HSA-111885
G-protein mediated events	REACTOME	R-HSA-112040
PLC beta mediated events	REACTOME	R-HSA-112043
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
Metabolism	REACTOME	R-HSA-1430728
Inositol phosphate metabolism	REACTOME	R-HSA-1483249
Synthesis of IP3 and IP4 in the cytosol	REACTOME	R-HSA-1855204
Integration of energy metabolism	REACTOME	R-HSA-163685
Regulation of insulin secretion	REACTOME	R-HSA-422356
Acetylcholine regulates insulin secretion	REACTOME	R-HSA-399997
Free fatty acids regulate insulin secretion	REACTOME	R-HSA-400451
Fatty Acids bound to GPR40 (FFAR1) regulate insulin secretion	REACTOME	R-HSA-434316
Aldosterone synthesis and secretion	KEGG	hsa04925
Aldosterone synthesis and secretion	KEGG	ko04925
Phospholipase D signaling pathway	KEGG	ko04072
Phospholipase D signaling pathway	KEGG	hsa04072
AGE-RAGE signaling pathway in diabetic complications	KEGG	ko04933
AGE-RAGE signaling pathway in diabetic complications	KEGG	hsa04933
Apelin signaling pathway	KEGG	hsa04371

Protein levels (Protein atlas)

Not detected

Low

Medium

High

PharmGKB

Entity ID	Name	Type	Evidence	Association	PMIDs
PA134864200	GNB4	Gene	Pathway	associated
PA174	GNAQ	Gene	Pathway	associated	19741567
PA176	GNB3	Gene	Pathway	associated
PA26097	CASR	Gene	Pathway	associated
PA28776	GNB1	Gene	Pathway	associated
PA28777	GNB1L	Gene	Pathway	associated
PA28778	GNB2	Gene	Pathway	associated
PA28784	GNG2	Gene	Pathway	associated
PA28785	GNG3	Gene	Pathway	associated
PA28786	GNG4	Gene	Pathway	associated
PA28787	GNG5	Gene	Pathway	associated
PA28789	GNG7	Gene	Pathway	associated
PA33759	PRKCA	Gene	Pathway	associated
PA33761	PRKCB	Gene	Pathway	associated
PA33766	PRKCG	Gene	Pathway	associated
PA33767	PRKCH	Gene	Pathway	associated
PA33768	PRKCI	Gene	Pathway	associated
PA33771	PRKD1	Gene	Pathway	associated
PA33775	PRKCZ	Gene	Pathway	associated
PA39	ADRB2	Gene	Pathway	associated

References

Pubmed ID	Year	Title	Citations
33236921	2021	Phospholipase C controls chloride-dependent short-circuit current in human bronchial epithelial cells.	1
33236921	2021	Phospholipase C controls chloride-dependent short-circuit current in human bronchial epithelial cells.	1
31254604	2019	Intramolecular electrostatic interactions contribute to phospholipase Cβ3 autoinhibition.	9
31254604	2019	Intramolecular electrostatic interactions contribute to phospholipase Cβ3 autoinhibition.	9
29122926	2018	Defect in phosphoinositide signalling through a homozygous variant in PLCB3 causes a new form of spondylometaphyseal dysplasia with corneal dystrophy.	4
29668297	2018	PLCB3 Loss of Function Reduces Pseudomonas aeruginosa-Dependent IL-8 Release in Cystic Fibrosis.	9
30237164	2018	OSBP-related protein 4L promotes phospholipase Cβ3 translocation from the nucleus to the plasma membrane in Jurkat T-cells.	9
29122926	2018	Defect in phosphoinositide signalling through a homozygous variant in PLCB3 causes a new form of spondylometaphyseal dysplasia with corneal dystrophy.	4
29668297	2018	PLCB3 Loss of Function Reduces Pseudomonas aeruginosa-Dependent IL-8 Release in Cystic Fibrosis.	9
30237164	2018	OSBP-related protein 4L promotes phospholipase Cβ3 translocation from the nucleus to the plasma membrane in Jurkat T-cells.	9
28842497	2017	The binding of activated Gα(q) to phospholipase C-β exhibits anomalous affinity.	6
28945350	2017	Phospholipase Cβ3 Membrane Adsorption and Activation Are Regulated by Its C-Terminal Domains and Phosphatidylinositol 4,5-Bisphosphate.	6
28842497	2017	The binding of activated Gα(q) to phospholipase C-β exhibits anomalous affinity.	6
28945350	2017	Phospholipase Cβ3 Membrane Adsorption and Activation Are Regulated by Its C-Terminal Domains and Phosphatidylinositol 4,5-Bisphosphate.	6
26468229	2016	Gnb isoforms control a signaling pathway comprising Rac1, Plcβ2, and Plcβ3 leading to LFA-1 activation and neutrophil arrest in vivo.	18

Citation

Dessen P

PLCB3 (phospholipase C beta 3)

Atlas Genet Cytogenet Oncol Haematol. 2003-02-01

Online version: http://atlasgeneticsoncology.org/gene/41744/cancer-prone-explorer/tumors-explorer/gene-fusions/?id=41744