PLCB3 (phospholipase C beta 3)

2003-02-01  

Identity

HGNC
PLCB3
LOCATION
11q13.1
LOCUSID
5331
ALIAS
SMDCD
FUSION GENES
Show Gene Fusions

Other Information

Locus ID:

NCBI: 5331
MIM: 600230
HGNC: 9056
Ensembl: ENSG00000149782

Variants:

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

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000149782ENST00000279230Q01970
ENSG00000149782ENST00000325234Q01970
ENSG00000149782ENST00000540288Q01970

Expression (GTEx)

0
10
20
30
40
50
60
70
80
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

PathwaySourceExternal ID
Inositol phosphate metabolismKEGGko00562
Calcium signaling pathwayKEGGko04020
Phosphatidylinositol signaling systemKEGGko04070
Wnt signaling pathwayKEGGko04310
Gap junctionKEGGko04540
Long-term potentiationKEGGko04720
Long-term depressionKEGGko04730
GnRH signaling pathwayKEGGko04912
MelanogenesisKEGGko04916
Alzheimer's diseaseKEGGko05010
Huntington's diseaseKEGGko05016
Inositol phosphate metabolismKEGGhsa00562
Calcium signaling pathwayKEGGhsa04020
Phosphatidylinositol signaling systemKEGGhsa04070
Wnt signaling pathwayKEGGhsa04310
Gap junctionKEGGhsa04540
Long-term potentiationKEGGhsa04720
Long-term depressionKEGGhsa04730
GnRH signaling pathwayKEGGhsa04912
MelanogenesisKEGGhsa04916
Alzheimer's diseaseKEGGhsa05010
Huntington's diseaseKEGGhsa05016
Pathways in cancerKEGGhsa05200
Vascular smooth muscle contractionKEGGhsa04270
Chemokine signaling pathwayKEGGko04062
Vascular smooth muscle contractionKEGGko04270
Chemokine signaling pathwayKEGGhsa04062
NOD-like receptor signaling pathwayKEGGko04621
NOD-like receptor signaling pathwayKEGGhsa04621
Metabolic pathwaysKEGGhsa01100
Chagas disease (American trypanosomiasis)KEGGko05142
Chagas disease (American trypanosomiasis)KEGGhsa05142
Salivary secretionKEGGko04970
Salivary secretionKEGGhsa04970
Gastric acid secretionKEGGko04971
Gastric acid secretionKEGGhsa04971
AmoebiasisKEGGko05146
AmoebiasisKEGGhsa05146
Pancreatic secretionKEGGko04972
Pancreatic secretionKEGGhsa04972
African trypanosomiasisKEGGko05143
African trypanosomiasisKEGGhsa05143
Endocrine and other factor-regulated calcium reabsorptionKEGGko04961
Endocrine and other factor-regulated calcium reabsorptionKEGGhsa04961
Glutamatergic synapseKEGGko04724
Glutamatergic synapseKEGGhsa04724
Cholinergic synapseKEGGhsa04725
Inositol phosphate metabolism, PI=> PIP2 => Ins(1,4,5)P3 => Ins(1,3,4,5)P4KEGGhsa_M00130
Inositol phosphate metabolism, PI=> PIP2 => Ins(1,4,5)P3 => Ins(1,3,4,5)P4KEGGM00130
Dopaminergic synapseKEGGko04728
Dopaminergic synapseKEGGhsa04728
Serotonergic synapseKEGGhsa04726
Retrograde endocannabinoid signalingKEGGhsa04723
Retrograde endocannabinoid signalingKEGGko04723
Circadian entrainmentKEGGhsa04713
Circadian entrainmentKEGGko04713
Insulin secretionKEGGhsa04911
Estrogen signaling pathwayKEGGhsa04915
Estrogen signaling pathwayKEGGko04915
Thyroid hormone synthesisKEGGhsa04918
Thyroid hormone synthesisKEGGko04918
Rap1 signaling pathwayKEGGhsa04015
Rap1 signaling pathwayKEGGko04015
Adrenergic signaling in cardiomyocytesKEGGhsa04261
Adrenergic signaling in cardiomyocytesKEGGko04261
Thyroid hormone signaling pathwayKEGGhsa04919
Inflammatory mediator regulation of TRP channelsKEGGhsa04750
Inflammatory mediator regulation of TRP channelsKEGGko04750
Platelet activationKEGGhsa04611
Oxytocin signaling pathwayKEGGhsa04921
Oxytocin signaling pathwayKEGGko04921
cGMP-PKG signaling pathwayKEGGhsa04022
cGMP-PKG signaling pathwayKEGGko04022
Sphingolipid signaling pathwayKEGGhsa04071
Glucagon signaling pathwayKEGGhsa04922
Sphingolipid signaling pathwayKEGGko04071
Glucagon signaling pathwayKEGGko04922
Renin secretionKEGGhsa04924
Renin secretionKEGGko04924
Neuronal SystemREACTOMER-HSA-112316
Transmission across Chemical SynapsesREACTOMER-HSA-112315
Neurotransmitter Receptor Binding And Downstream Transmission In The Postsynaptic CellREACTOMER-HSA-112314
Activation of Kainate Receptors upon glutamate bindingREACTOMER-HSA-451326
Presynaptic function of Kainate receptorsREACTOMER-HSA-500657
Signal TransductionREACTOMER-HSA-162582
Signaling by GPCRREACTOMER-HSA-372790
GPCR downstream signalingREACTOMER-HSA-388396
G alpha (q) signalling eventsREACTOMER-HSA-416476
G-protein beta:gamma signallingREACTOMER-HSA-397795
G beta:gamma signalling through PLC betaREACTOMER-HSA-418217
Opioid SignallingREACTOMER-HSA-111885
G-protein mediated eventsREACTOMER-HSA-112040
PLC beta mediated eventsREACTOMER-HSA-112043
Gastrin-CREB signalling pathway via PKC and MAPKREACTOMER-HSA-881907
Signaling by WntREACTOMER-HSA-195721
Beta-catenin independent WNT signalingREACTOMER-HSA-3858494
Ca2+ pathwayREACTOMER-HSA-4086398
MetabolismREACTOMER-HSA-1430728
Inositol phosphate metabolismREACTOMER-HSA-1483249
Synthesis of IP3 and IP4 in the cytosolREACTOMER-HSA-1855204
Integration of energy metabolismREACTOMER-HSA-163685
Regulation of insulin secretionREACTOMER-HSA-422356
Acetylcholine regulates insulin secretionREACTOMER-HSA-399997
Free fatty acids regulate insulin secretionREACTOMER-HSA-400451
Fatty Acids bound to GPR40 (FFAR1) regulate insulin secretionREACTOMER-HSA-434316
Aldosterone synthesis and secretionKEGGhsa04925
Aldosterone synthesis and secretionKEGGko04925
Phospholipase D signaling pathwayKEGGko04072
Phospholipase D signaling pathwayKEGGhsa04072
AGE-RAGE signaling pathway in diabetic complicationsKEGGko04933
AGE-RAGE signaling pathway in diabetic complicationsKEGGhsa04933
Apelin signaling pathwayKEGGhsa04371

Protein levels (Protein atlas)

Not detected
Low
Medium
High
cerebral cortex
cerebellum
hippocampus
caudate
thyroid gland
parathyroid gland
adrenal gland
nasopharynx
bronchus
lung
oral mucosa
salivary gland
esophagus
stomach 1
stomach 2
duodenum
small intestine
colon
rectum
liver
gallbladder
pancreas
kidney
urinary bladder
testis
epididymis
seminal vesicle
prostate
vagina
ovary
fallopian tube
endometrium 1
endometrium 2
cervix, uterine
placenta
breast
heart muscle
smooth muscle
skeletal muscle
soft tissue 2
adipose tissue
skin 1
skin 2
appendix
spleen
lymph node
tonsil
bone marrow

PharmGKB

Entity IDNameTypeEvidenceAssociationPKPDPMIDs
PA134864200GNB4GenePathwayassociated
PA174GNAQGenePathwayassociated19741567
PA176GNB3GenePathwayassociated
PA26097CASRGenePathwayassociated
PA28776GNB1GenePathwayassociated
PA28777GNB1LGenePathwayassociated
PA28778GNB2GenePathwayassociated
PA28784GNG2GenePathwayassociated
PA28785GNG3GenePathwayassociated
PA28786GNG4GenePathwayassociated
PA28787GNG5GenePathwayassociated
PA28789GNG7GenePathwayassociated
PA33759PRKCAGenePathwayassociated
PA33761PRKCBGenePathwayassociated
PA33766PRKCGGenePathwayassociated
PA33767PRKCHGenePathwayassociated
PA33768PRKCIGenePathwayassociated
PA33771PRKD1GenePathwayassociated
PA33775PRKCZGenePathwayassociated
PA39ADRB2GenePathwayassociated

References

Pubmed IDYearTitleCitations
332369212021Phospholipase C controls chloride-dependent short-circuit current in human bronchial epithelial cells.1
332369212021Phospholipase C controls chloride-dependent short-circuit current in human bronchial epithelial cells.1
312546042019Intramolecular electrostatic interactions contribute to phospholipase Cβ3 autoinhibition.9
312546042019Intramolecular electrostatic interactions contribute to phospholipase Cβ3 autoinhibition.9
291229262018Defect in phosphoinositide signalling through a homozygous variant in PLCB3 causes a new form of spondylometaphyseal dysplasia with corneal dystrophy.4
296682972018PLCB3 Loss of Function Reduces Pseudomonas aeruginosa-Dependent IL-8 Release in Cystic Fibrosis.9
302371642018OSBP-related protein 4L promotes phospholipase Cβ3 translocation from the nucleus to the plasma membrane in Jurkat T-cells.9
291229262018Defect in phosphoinositide signalling through a homozygous variant in PLCB3 causes a new form of spondylometaphyseal dysplasia with corneal dystrophy.4
296682972018PLCB3 Loss of Function Reduces Pseudomonas aeruginosa-Dependent IL-8 Release in Cystic Fibrosis.9
302371642018OSBP-related protein 4L promotes phospholipase Cβ3 translocation from the nucleus to the plasma membrane in Jurkat T-cells.9
288424972017The binding of activated Gα(q) to phospholipase C-β exhibits anomalous affinity.6
289453502017Phospholipase Cβ3 Membrane Adsorption and Activation Are Regulated by Its C-Terminal Domains and Phosphatidylinositol 4,5-Bisphosphate.6
288424972017The binding of activated Gα(q) to phospholipase C-β exhibits anomalous affinity.6
289453502017Phospholipase Cβ3 Membrane Adsorption and Activation Are Regulated by Its C-Terminal Domains and Phosphatidylinositol 4,5-Bisphosphate.6
264682292016Gnb 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/js/js/lib/humanGenome