PLCE1 (phospholipase C epsilon 1)

2006-10-01  

Identity

HGNC
PLCE1
LOCATION
10q23.33
LOCUSID
51196
ALIAS
NPHS3,PLCE,PPLC
FUSION GENES
Show Gene Fusions

Other Information

Locus ID:

NCBI: 51196
MIM: 608414
HGNC: 17175
Ensembl: ENSG00000138193

Variants:

dbSNP: 51196
ClinVar: 51196
TCGA: ENSG00000138193
COSMIC: PLCE1

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000138193ENST00000371375Q9P212
ENSG00000138193ENST00000371380Q9P212
ENSG00000138193ENST00000371385Q9P212

Expression (GTEx)

0
5
10
15
20
25
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
Inositol phosphate metabolismKEGGhsa00562
Calcium signaling pathwayKEGGhsa04020
Phosphatidylinositol signaling systemKEGGhsa04070
Metabolic pathwaysKEGGhsa01100
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
Proteoglycans in cancerKEGGhsa05205
Proteoglycans in cancerKEGGko05205
Ras signaling pathwayKEGGhsa04014
Rap1 signaling pathwayKEGGhsa04015
Rap1 signaling pathwayKEGGko04015
Thyroid hormone signaling pathwayKEGGhsa04919
cAMP signaling pathwayKEGGhsa04024
cAMP signaling pathwayKEGGko04024
MetabolismREACTOMER-HSA-1430728
Inositol phosphate metabolismREACTOMER-HSA-1483249
Synthesis of IP3 and IP4 in the cytosolREACTOMER-HSA-1855204
AGE-RAGE signaling pathway in diabetic complicationsKEGGko04933
AGE-RAGE signaling pathway in diabetic complicationsKEGGhsa04933

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 1
soft tissue 2
adipose tissue
skin 1
skin 2
appendix
spleen
lymph node
tonsil
bone marrow

PharmGKB

Entity IDNameTypeEvidenceAssociationPKPDPMIDs
PA26097CASRGenePathwayassociated
PA33759PRKCAGenePathwayassociated
PA33761PRKCBGenePathwayassociated
PA33766PRKCGGenePathwayassociated
PA33767PRKCHGenePathwayassociated
PA33768PRKCIGenePathwayassociated
PA33771PRKD1GenePathwayassociated
PA33775PRKCZGenePathwayassociated
PA444552HypertensionDiseaseClinicalAnnotationassociatedPD31327267
PA449899hydrochlorothiazideChemicalClinicalAnnotationassociatedPD31327267

References

Pubmed IDYearTitleCitations
376700832024Copy number variation analysis in 138 families with steroid-resistant nephrotic syndrome identifies causal homozygous deletions in PLCE1 and NPHS2 in two families.0
384510802024Phospholipase C epsilon-1 (PLCƐ1) mediates macrophage activation and protection against tuberculosis.0
376700832024Copy number variation analysis in 138 families with steroid-resistant nephrotic syndrome identifies causal homozygous deletions in PLCE1 and NPHS2 in two families.0
384510802024Phospholipase C epsilon-1 (PLCƐ1) mediates macrophage activation and protection against tuberculosis.0
366506882023Association between the Missense Variant of PLCE1 and the Risk of Colorectal Cancer.0
366506882023Association between the Missense Variant of PLCE1 and the Risk of Colorectal Cancer.0
350341932022A broad clinical spectrum of PLCε1-related kidney disease and intrafamilial variability.1
357659452022PLCE1 is a poor prognostic marker and may promote immune escape from osteosarcoma by the CD70-CD27 signaling pathway.4
360651332022PLCE1 as a diagnostic and prognostic biomarker by promoting the growth and progression of oral squamous cell carcinoma.1
363172202022[Association of GSTP1 and PLCE1 gene polymorphisms with primary esophageal cancer].0
363676902022Phospholipase Cε insufficiency causes ascending aortic aneurysm and dissection.1
350341932022A broad clinical spectrum of PLCε1-related kidney disease and intrafamilial variability.1
357659452022PLCE1 is a poor prognostic marker and may promote immune escape from osteosarcoma by the CD70-CD27 signaling pathway.4
360651332022PLCE1 as a diagnostic and prognostic biomarker by promoting the growth and progression of oral squamous cell carcinoma.1
363172202022[Association of GSTP1 and PLCE1 gene polymorphisms with primary esophageal cancer].0

Citation

Dessen P

PLCE1 (phospholipase C epsilon 1)

Atlas Genet Cytogenet Oncol Haematol. 2006-10-01

Online version: http://atlasgeneticsoncology.org/gene/43412/js/lib/popper.js