PLCE1 Chromosome 10
Phospholipase C epsilon 1
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What This Gene Does
This gene encodes a phospholipase enzyme that catalyzes the hydrolysis of phosphatidylinositol-4,5-bisphosphate to generate two second messengers: inositol 1,4,5-triphosphate (IP3) and diacylglycerol (DAG). These second messengers subsequently regulate various processes affecting cell growth, differentiation, and gene expression. This enzyme is regulated by small monomeric GTPases of the Ras and Rho families and by heterotrimeric G proteins. In addition to its phospholipase C catalytic activity, this enzyme has an N-terminal domain with guanine nucleotide exchange (GEF) activity. Mutations in this gene cause early-onset nephrotic syndrome; characterized by proteinuria, edema, and diffuse mesangial sclerosis or focal and segmental glomerulosclerosis. Alternative splicing results in multiple transcript variants encoding distinct isoforms.[provided by RefSeq, Sep 2009]
Gene Info
Gene Group
"Phospholipases|C2 domain containing phospholipases"
Locus Type
gene with protein product
Location
10q23.33
Ensembl
ENSG00000138193
Associated Conditions (10)
Inborn genetic diseases
Nephrotic syndrome
type 3
Kidney disorder
Acute myeloid leukemia
PLCE1-related disorder
Focal segmental glomerulosclerosis
Proteinuria
Polycystic kidney disease
Finnish congenital nephrotic syndrome
Key Variants
RS117545428
Conflicting classifications of pathogenicity
Inborn genetic diseases, Nephrotic syndrome, type 3
Health Risk
RS1193230553
Conflicting classifications of pathogenicity
Nephrotic syndrome, type 3, Nephrotic syndrome
Health Risk
RS141639885
Conflicting classifications of pathogenicity
Nephrotic syndrome, type 3, Kidney disorder
Health Risk
RS148239915
Conflicting classifications of pathogenicity
Nephrotic syndrome, type 3, Nephrotic syndrome
Health Risk
RS149064632
Conflicting classifications of pathogenicity
Nephrotic syndrome, type 3, Inborn genetic diseases
Health Risk
RS149614492
Conflicting classifications of pathogenicity
Nephrotic syndrome, type 3, Acute myeloid leukemia
Health Risk
RS180753337
Conflicting classifications of pathogenicity
Nephrotic syndrome, type 3, Inborn genetic diseases
Health Risk
RS192084195
Conflicting classifications of pathogenicity
PLCE1-related disorder, Inborn genetic diseases, Nephrotic syndrome
Health Risk
RS192586920
Conflicting classifications of pathogenicity
Nephrotic syndrome, type 3, Nephrotic syndrome
Health Risk
RS199705167
Conflicting classifications of pathogenicity
Nephrotic syndrome, type 3, Nephrotic syndrome
Health Risk
RS199781223
Conflicting classifications of pathogenicity
Focal segmental glomerulosclerosis, Proteinuria, Kidney disorder
Health Risk
RS200380935
Conflicting classifications of pathogenicity
PLCE1-related disorder, PLCE1-related disorder
Health Risk
All Variants (107)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS767455902 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Nephrotic syndrome, type 3 |
| RS768100538 | Health Risk | Conflicting classifications of pathogenicity | Nephrotic syndrome, type 3, Nephrotic syndrome |
| RS771798085 | Health Risk | Conflicting classifications of pathogenicity | Nephrotic syndrome, type 3, Nephrotic syndrome |
| RS773286543 | Health Risk | Conflicting classifications of pathogenicity | Nephrotic syndrome, type 3, Nephrotic syndrome |
| RS774497694 | Health Risk | Conflicting classifications of pathogenicity | Nephrotic syndrome, type 3, Inborn genetic diseases |
| RS777436865 | Health Risk | Conflicting classifications of pathogenicity | PLCE1-related disorder, PLCE1-related disorder |
| RS78828338 | Health Risk | Conflicting classifications of pathogenicity | Nephrotic syndrome, type 3, PLCE1-related disorder |
| RS867246620 | Health Risk | Conflicting classifications of pathogenicity | Nephrotic syndrome, type 3, Nephrotic syndrome |
| RS958946520 | Health Risk | Conflicting classifications of pathogenicity | Nephrotic syndrome, type 3, Nephrotic syndrome |
| RS1372872177 | Health Risk | Likely pathogenic | — |
| RS1589433172 | Health Risk | Likely pathogenic | Nephrotic syndrome, type 3, Nephrotic syndrome |
| RS1589509476 | Health Risk | Likely pathogenic | Nephrotic syndrome, type 3, Nephrotic syndrome |
| RS2051495579 | Health Risk | Likely pathogenic | Nephrotic syndrome, Nephrotic syndrome |
| RS2132855762 | Health Risk | Likely pathogenic | Nephrotic syndrome, Nephrotic syndrome |
| RS2133127091 | Health Risk | Likely pathogenic | Nephrotic syndrome, type 3, Nephrotic syndrome |
| RS2133127123 | Health Risk | Likely pathogenic | Nephrotic syndrome, Nephrotic syndrome |
| RS2133612592 | Health Risk | Likely pathogenic | Nephrotic syndrome, Nephrotic syndrome |
| RS2133673643 | Health Risk | Likely pathogenic | Nephrotic syndrome, Nephrotic syndrome |
| RS2136320656 | Health Risk | Likely pathogenic | Nephrotic syndrome, Nephrotic syndrome |
| RS2137512478 | Health Risk | Likely pathogenic | Nephrotic syndrome, Nephrotic syndrome |
| RS2494255828 | Health Risk | Likely pathogenic | Nephrotic syndrome, type 3, Nephrotic syndrome |
| RS2495932389 | Health Risk | Likely pathogenic | PLCE1-related disorder, PLCE1-related disorder |
| RS2496086396 | Health Risk | Likely pathogenic | Nephrotic syndrome, type 3, Nephrotic syndrome |
| RS2496494951 | Health Risk | Likely pathogenic | Nephrotic syndrome, type 3, Nephrotic syndrome |
| RS747229979 | Health Risk | Likely pathogenic | Nephrotic syndrome, PLCE1-related disorder, Nephrotic syndrome |
| RS121912601 | Health Risk | Pathogenic | Nephrotic syndrome, type 3, Nephrotic syndrome |
| RS121912602 | Health Risk | Pathogenic | Nephrotic syndrome, type 3, Nephrotic syndrome |
| RS121912603 | Health Risk | Pathogenic | Nephrotic syndrome, type 3, Nephrotic syndrome |
| RS121912604 | Health Risk | Pathogenic | Nephrotic syndrome, type 3, Nephrotic syndrome |
| RS121912605 | Health Risk | Pathogenic | Nephrotic syndrome, type 3, Nephrotic syndrome |
| RS1437816828 | Health Risk | Pathogenic | — |
| RS1439063013 | Health Risk | Pathogenic | Nephrotic syndrome, type 3, Nephrotic syndrome |
| RS1589413498 | Health Risk | Pathogenic | Nephrotic syndrome, type 3, Nephrotic syndrome |
| RS2051691492 | Health Risk | Pathogenic | Nephrotic syndrome, type 3, Nephrotic syndrome |
| RS2053825782 | Health Risk | Pathogenic | — |
| RS2133104138 | Health Risk | Pathogenic | Nephrotic syndrome, type 3, Nephrotic syndrome |
| RS2133537931 | Health Risk | Pathogenic | Nephrotic syndrome, type 3, Nephrotic syndrome |
| RS2134504108 | Health Risk | Pathogenic | Nephrotic syndrome, type 3, Nephrotic syndrome |
| RS2493533817 | Health Risk | Pathogenic | Nephrotic syndrome, type 3, Nephrotic syndrome |
| RS2495460804 | Health Risk | Pathogenic | Finnish congenital nephrotic syndrome, Finnish congenital nephrotic syndrome |
| RS2496256205 | Health Risk | Pathogenic | Nephrotic syndrome, type 3, Nephrotic syndrome |
| RS2497049567 | Health Risk | Pathogenic | Nephrotic syndrome, type 3, Nephrotic syndrome |
| RS267606953 | Health Risk | Pathogenic | Nephrotic syndrome, type 3, Nephrotic syndrome |
| RS267606954 | Health Risk | Pathogenic | Nephrotic syndrome, type 3, Nephrotic syndrome |
| RS267606955 | Health Risk | Pathogenic | Nephrotic syndrome, type 3, Nephrotic syndrome |
| RS750815297 | Health Risk | Pathogenic | Nephrotic syndrome, type 3, Nephrotic syndrome |
| RS773902333 | Health Risk | Pathogenic | — |
| RS775052849 | Health Risk | Pathogenic | — |
| RS777787687 | Health Risk | Pathogenic | — |
| RS781068774 | Health Risk | Pathogenic | — |