Identity
HGNC
LOCATION
10q23.33
LOCUSID
ALIAS
NPHS3,PLCE,PPLC
FUSION GENES
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)
Pathways
Protein levels (Protein atlas)
PharmGKB
| Entity ID | Name | Type | Evidence | Association | PK | 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 |
|---|---|---|---|
| 37670083 | 2024 | Copy number variation analysis in 138 families with steroid-resistant nephrotic syndrome identifies causal homozygous deletions in PLCE1 and NPHS2 in two families. | 0 |
| 38451080 | 2024 | Phospholipase C epsilon-1 (PLCƐ1) mediates macrophage activation and protection against tuberculosis. | 0 |
| 37670083 | 2024 | Copy number variation analysis in 138 families with steroid-resistant nephrotic syndrome identifies causal homozygous deletions in PLCE1 and NPHS2 in two families. | 0 |
| 38451080 | 2024 | Phospholipase C epsilon-1 (PLCƐ1) mediates macrophage activation and protection against tuberculosis. | 0 |
| 36650688 | 2023 | Association between the Missense Variant of PLCE1 and the Risk of Colorectal Cancer. | 0 |
| 36650688 | 2023 | Association between the Missense Variant of PLCE1 and the Risk of Colorectal Cancer. | 0 |
| 35034193 | 2022 | A broad clinical spectrum of PLCε1-related kidney disease and intrafamilial variability. | 1 |
| 35765945 | 2022 | PLCE1 is a poor prognostic marker and may promote immune escape from osteosarcoma by the CD70-CD27 signaling pathway. | 4 |
| 36065133 | 2022 | PLCE1 as a diagnostic and prognostic biomarker by promoting the growth and progression of oral squamous cell carcinoma. | 1 |
| 36317220 | 2022 | [Association of GSTP1 and PLCE1 gene polymorphisms with primary esophageal cancer]. | 0 |
| 36367690 | 2022 | Phospholipase Cε insufficiency causes ascending aortic aneurysm and dissection. | 1 |
| 35034193 | 2022 | A broad clinical spectrum of PLCε1-related kidney disease and intrafamilial variability. | 1 |
| 35765945 | 2022 | PLCE1 is a poor prognostic marker and may promote immune escape from osteosarcoma by the CD70-CD27 signaling pathway. | 4 |
| 36065133 | 2022 | PLCE1 as a diagnostic and prognostic biomarker by promoting the growth and progression of oral squamous cell carcinoma. | 1 |
| 36317220 | 2022 | [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/plce1
