PLCE1 (phospholipase C epsilon 1)

2006-10-01 Affiliation

Identity

HGNC

PLCE1

LOCATION

10q23.33

LOCUSID

51196

ALIAS

NPHS3,PLCE,PPLC

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: 51196
MIM: 608414
HGNC: 17175
Ensembl: ENSG00000138193

Variants:

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

RNA/Proteins

Gene ID	Transcript ID	Uniprot
ENSG00000138193	ENST00000371375	Q9P212
ENSG00000138193	ENST00000371380	Q9P212
ENSG00000138193	ENST00000371385	Q9P212

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
Inositol phosphate metabolism	KEGG	hsa00562
Calcium signaling pathway	KEGG	hsa04020
Phosphatidylinositol signaling system	KEGG	hsa04070
Metabolic pathways	KEGG	hsa01100
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
Proteoglycans in cancer	KEGG	hsa05205
Proteoglycans in cancer	KEGG	ko05205
Ras signaling pathway	KEGG	hsa04014
Rap1 signaling pathway	KEGG	hsa04015
Rap1 signaling pathway	KEGG	ko04015
Thyroid hormone signaling pathway	KEGG	hsa04919
cAMP signaling pathway	KEGG	hsa04024
cAMP signaling pathway	KEGG	ko04024
Metabolism	REACTOME	R-HSA-1430728
Inositol phosphate metabolism	REACTOME	R-HSA-1483249
Synthesis of IP3 and IP4 in the cytosol	REACTOME	R-HSA-1855204
AGE-RAGE signaling pathway in diabetic complications	KEGG	ko04933
AGE-RAGE signaling pathway in diabetic complications	KEGG	hsa04933

Protein levels (Protein atlas)

Not detected

Low

Medium

High

PharmGKB

Entity ID	Name	Type	Evidence	Association	PD	PMIDs
PA26097	CASR	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
PA444552	Hypertension	Disease	ClinicalAnnotation	associated	PD	31327267
PA449899	hydrochlorothiazide	Chemical	ClinicalAnnotation	associated	PD	31327267

References

Pubmed ID	Year	Title	Citations
20729852	2010	A shared susceptibility locus in PLCE1 at 10q23 for gastric adenocarcinoma and esophageal squamous cell carcinoma.	193
20729852	2010	A shared susceptibility locus in PLCE1 at 10q23 for gastric adenocarcinoma and esophageal squamous cell carcinoma.	193
20729853	2010	Genome-wide association study of esophageal squamous cell carcinoma in Chinese subjects identifies susceptibility loci at PLCE1 and C20orf54.	155
20729853	2010	Genome-wide association study of esophageal squamous cell carcinoma in Chinese subjects identifies susceptibility loci at PLCE1 and C20orf54.	155
27322543	2016	Meta-analysis of 375,000 individuals identifies 38 susceptibility loci for migraine.	108
22001756	2011	Genome-wide association study identifies susceptibility loci for dengue shock syndrome at MICB and PLCE1.	86
16565089	2006	Hyaluronan-CD44 interaction with leukemia-associated RhoGEF and epidermal growth factor receptor promotes Rho/Ras co-activation, phospholipase C epsilon-Ca2+ signaling, and cytoskeleton modification in head and neck squamous cell carcinoma cells.	85
16385451	2006	A scan of chromosome 10 identifies a novel locus showing strong association with late-onset Alzheimer disease.	69
20379614	2010	Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.	62
20201926	2010	Human variation in alcohol response is influenced by variation in neuronal signaling genes.	45

Citation

Dessen P

PLCE1 (phospholipase C epsilon 1)

Atlas Genet Cytogenet Oncol Haematol. 2006-10-01

Online version: http://atlasgeneticsoncology.org/gene/43412/plce1