Free for academic non-profit institutions. Other users need a Commercial license

Aliases for PLCE1 Gene

Aliases for PLCE1 Gene

  • Phospholipase C Epsilon 1 2 3 5
  • Phosphoinositide Phospholipase C-Epsilon-1 3 4
  • Pancreas-Enriched Phospholipase C 3 4
  • Phosphoinositide Phospholipase C 2 3
  • PLC-Epsilon-1 3 4
  • EC 3.1.4.11 4 56
  • PLCE 3 4
  • PPLC 3 4
  • 1-Phosphatidylinositol 4,5-Bisphosphate Phosphodiesterase Epsilon-1 3
  • Phosphoinositide-Specific Phospholipase C Epsilon-1 3
  • Phospholipase C, Epsilon 1 2
  • Phospholipase C-Epsilon-1 4
  • Nephrosis Type 3 2
  • KIAA1516 4
  • NPHS3 3

External Ids for PLCE1 Gene

Previous GeneCards Identifiers for PLCE1 Gene

  • GC10P094683
  • GC10P095024
  • GC10P095921
  • GC10P095455
  • GC10P095743
  • GC10P089380
  • GC10P095753

Summaries for PLCE1 Gene

Entrez Gene Summary for PLCE1 Gene

  • 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]

GeneCards Summary for PLCE1 Gene

PLCE1 (Phospholipase C Epsilon 1) is a Protein Coding gene. Diseases associated with PLCE1 include Nephrotic Syndrome, Type 3 and Sporadic Idiopathic Steroid-Resistant Nephrotic Syndrome With Diffuse Mesangial Sclerosis. Among its related pathways are NFAT and Cardiac Hypertrophy and Primary Focal Segmental Glomerulosclerosis FSGS. Gene Ontology (GO) annotations related to this gene include calcium ion binding and guanyl-nucleotide exchange factor activity. An important paralog of this gene is PLCG2.

UniProtKB/Swiss-Prot for PLCE1 Gene

  • The production of the second messenger molecules diacylglycerol (DAG) and inositol 1,4,5-trisphosphate (IP3) is mediated by activated phosphatidylinositol-specific phospholipase C enzymes. PLCE1 is a bifunctional enzyme which also regulates small GTPases of the Ras superfamily through its Ras guanine-exchange factor (RasGEF) activity. As an effector of heterotrimeric and small G-protein, it may play a role in cell survival, cell growth, actin organization and T-cell activation.

Tocris Summary for PLCE1 Gene

  • Phospholipases are a group of enzymes that hydrolyze phospholipids into fatty acids and other lipophilic molecules. There are four major classes; phospholipase A, phospholipase B, phosphoinositide-specific phospholipase C and phospholipase D.

Gene Wiki entry for PLCE1 Gene

Additional gene information for PLCE1 Gene

No data available for CIViC summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for PLCE1 Gene

Genomics for PLCE1 Gene

GeneHancer (GH) Regulatory Elements for PLCE1 Gene

Promoters and enhancers for PLCE1 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH10I093990 Promoter/Enhancer 1.6 EPDnew Ensembl ENCODE 565.4 -1.0 -965 4.8 KLF17 SIN3A MZF1 ZNF2 ZEB1 ZNF335 GLIS2 ZNF366 FOS ELF1 PLCE1 RPL17P34 ENSG00000273450 NOC3L LOC105378438
GH10I093998 Promoter/Enhancer 1.2 EPDnew Ensembl ENCODE 567.4 +7.4 7427 5.1 SCRT1 CTCF GATA3 SCRT2 REST NR2F2 PLCE1 GC10M094048 RNY4P26
GH10I094089 Promoter/Enhancer 1.2 EPDnew Ensembl 550.2 +95.2 95212 0.4 ZBTB21 ZNF449 ZIC2 ZNF2 GATA3 ZNF366 ZNF547 PRDM10 ZNF600 ZNF189 PLCE1 PLCE1-AS2 RNY4P26 GC10M094048
GH10I094005 Enhancer 0.9 Ensembl ENCODE 14.6 +12.8 12832 3.2 SMARCE1 KLF1 FOXA2 KLF17 FOXA1 SP1 ZFHX2 JUND GATA3 ZNF239 PLCE1 RNY4P26 GC10M094048
GH10I094361 Promoter/Enhancer 2.1 EPDnew Ensembl ENCODE 5.4 +368.4 368419 2.3 PKNOX1 CLOCK MLX ZFP64 ARID4B SIN3A FEZF1 DMAP1 ZNF2 YY1 NOC3L PIR55864 ENSG00000273450 FRA10AC1 PDE6C PIPSL PLCE1-AS1 PLCE1
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around PLCE1 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the PLCE1 gene promoter:

Genomic Locations for PLCE1 Gene

Genomic Locations for PLCE1 Gene
chr10:93,993,989-94,332,823
(GRCh38/hg38)
Size:
338,835 bases
Orientation:
Plus strand
chr10:95,753,746-96,092,580
(GRCh37/hg19)

Genomic View for PLCE1 Gene

Genes around PLCE1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
PLCE1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for PLCE1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for PLCE1 Gene

Proteins for PLCE1 Gene

  • Protein details for PLCE1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9P212-PLCE1_HUMAN
    Recommended name:
    1-phosphatidylinositol 4,5-bisphosphate phosphodiesterase epsilon-1
    Protein Accession:
    Q9P212
    Secondary Accessions:
    • A6NGW0
    • A6NLA1
    • A7MBN7
    • A8K1D7
    • B9EIJ6
    • Q1X6H8
    • Q5VWL4
    • Q5VWL5
    • Q9H9X8
    • Q9HBX6
    • Q9HC53
    • Q9UHV3

    Protein attributes for PLCE1 Gene

    Size:
    2302 amino acids
    Molecular mass:
    258715 Da
    Cofactor:
    Name=Ca(2+); Xref=ChEBI:CHEBI:29108;
    Quaternary structure:
    • Interacts with RHOA (By similarity). Interacts with IQGAP1, HRAS, RAP1A, RAP2A, RAP2B and RRAS.
    SequenceCaution:
    • Sequence=AAF22005.1; Type=Frameshift; Positions=1131; Evidence={ECO:0000305}; Sequence=AAG17145.2; Type=Frameshift; Positions=2296; Evidence={ECO:0000305}; Sequence=BAA96040.2; Type=Erroneous initiation; Evidence={ECO:0000305}; Sequence=BAB14090.1; Type=Erroneous initiation; Evidence={ECO:0000305}; Sequence=CAH70739.1; Type=Erroneous gene model prediction; Evidence={ECO:0000305}; Sequence=CAH73288.1; Type=Erroneous gene model prediction; Evidence={ECO:0000305}; Sequence=CAH73757.1; Type=Erroneous gene model prediction; Evidence={ECO:0000305}; Sequence=CAI16674.1; Type=Erroneous gene model prediction; Evidence={ECO:0000305};

    Three dimensional structures from OCA and Proteopedia for PLCE1 Gene

    Alternative splice isoforms for PLCE1 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for PLCE1 Gene

Selected DME Specific Peptides for PLCE1 Gene

Q9P212:
  • LSDLVIY
  • CGYVLKP
  • SSHNTYL
  • YHGHTLT

Post-translational modifications for PLCE1 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Domains & Families for PLCE1 Gene

Gene Families for PLCE1 Gene

HGNC:
IUPHAR :
Human Protein Atlas (HPA):
  • Disease related genes
  • Enzymes
  • Plasma proteins
  • Potential drug targets
  • Predicted intracellular proteins

Suggested Antigen Peptide Sequences for PLCE1 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q9P212

UniProtKB/Swiss-Prot:

PLCE1_HUMAN :
  • The Ras-associating domain 1 is degenerated and may not bind HRAS. The Ras-associating domain 2 mediates interaction with GTP-bound HRAS, RAP1A, RAP2A and RAP2B and recruitment of HRAS to the cell membrane.
Domain:
  • The Ras-associating domain 1 is degenerated and may not bind HRAS. The Ras-associating domain 2 mediates interaction with GTP-bound HRAS, RAP1A, RAP2A and RAP2B and recruitment of HRAS to the cell membrane.
  • The Ras-GEF domain has a GEF activity towards HRAS and RAP1A. Mediates activation of the mitogen-activated protein kinase pathway.
genes like me logo Genes that share domains with PLCE1: view

Function for PLCE1 Gene

Molecular function for PLCE1 Gene

UniProtKB/Swiss-Prot CatalyticActivity:
1-phosphatidyl-1D-myo-inositol 4,5-bisphosphate + H(2)O = 1D-myo-inositol 1,4,5-trisphosphate + diacylglycerol.
UniProtKB/Swiss-Prot EnzymeRegulation:
Activated by the heterotrimeric G-protein subunits GNA12, GNA13 and GNB1-GNG2. Activated by HRAS, RAP1A, RHOA, RHOB, RHOC, RRAS and RRAS2. Activated by the G(s)-coupled GPCRs ADRB2, PTGER1 and CHRM3 through cyclic-AMP formation and RAP2B activation. Inhibited by G(i)-coupled GPCRs.
UniProtKB/Swiss-Prot Function:
The production of the second messenger molecules diacylglycerol (DAG) and inositol 1,4,5-trisphosphate (IP3) is mediated by activated phosphatidylinositol-specific phospholipase C enzymes. PLCE1 is a bifunctional enzyme which also regulates small GTPases of the Ras superfamily through its Ras guanine-exchange factor (RasGEF) activity. As an effector of heterotrimeric and small G-protein, it may play a role in cell survival, cell growth, actin organization and T-cell activation.
UniProtKB/Swiss-Prot Induction:
Overexpressed during heart failure.

Enzyme Numbers (IUBMB) for PLCE1 Gene

Phenotypes From GWAS Catalog for PLCE1 Gene

Gene Ontology (GO) - Molecular Function for PLCE1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0004435 phosphatidylinositol phospholipase C activity TAS --
GO:0004629 phospholipase C activity IDA 11022047
GO:0004871 signal transducer activity IEA --
GO:0005057 signal transducer activity, downstream of receptor TAS 11022048
GO:0005085 guanyl-nucleotide exchange factor activity TAS 11022047
genes like me logo Genes that share ontologies with PLCE1: view
genes like me logo Genes that share phenotypes with PLCE1: view

Human Phenotype Ontology for PLCE1 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for PLCE1 Gene

MGI Knock Outs for PLCE1:

Animal Model Products

miRNA for PLCE1 Gene

miRTarBase miRNAs that target PLCE1

Clone Products

No data available for Transcription Factor Targets and HOMER Transcription for PLCE1 Gene

Localization for PLCE1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for PLCE1 Gene

Cytoplasm, cytosol. Cell membrane. Golgi apparatus membrane. Note=Recruited to plasma membrane by activated HRAS and RAP2. Recruited to perinuclear membrane by activated RAP1A. Isoform 1 and isoform 2 associates with Golgi membranes.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for PLCE1 gene
Compartment Confidence
plasma membrane 5
cytosol 5
golgi apparatus 5
nucleus 3
cytoskeleton 1
peroxisome 1

Subcellular locations from the

Human Protein Atlas (HPA)

Gene Ontology (GO) - Cellular Components for PLCE1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000139 Golgi membrane IEA --
GO:0005737 cytoplasm IEA --
GO:0005794 Golgi apparatus IEA --
GO:0005829 cytosol IDA,IEA 11022048
GO:0005886 plasma membrane TAS --
genes like me logo Genes that share ontologies with PLCE1: view

Pathways & Interactions for PLCE1 Gene

genes like me logo Genes that share pathways with PLCE1: view

Interacting Proteins for PLCE1 Gene

SIGNOR curated interactions for PLCE1 Gene

Activates:
Is activated by:

Gene Ontology (GO) - Biological Process for PLCE1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000187 activation of MAPK activity IDA 11022047
GO:0001558 regulation of cell growth TAS 11022047
GO:0006629 lipid metabolic process IEA --
GO:0006644 phospholipid metabolic process IC 11022048
GO:0006651 diacylglycerol biosynthetic process TAS 11022047
genes like me logo Genes that share ontologies with PLCE1: view

Drugs & Compounds for PLCE1 Gene

(3) Drugs for PLCE1 Gene - From: HMDB

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Water Approved Pharma 0
calcium Approved Nutra 0
Guanosine triphosphate Experimental Pharma 0

(386) Additional Compounds for PLCE1 Gene - From: HMDB and Tocris

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
Diglycerides Group A
  • 1-Myristoyl-2-pentadecanoyl-sn-glycerol
  • DAG(14:0/15:0)
  • DAG(29:0)
  • DG(14:0/15:0)
  • DG(29:0)
Diglycerides Group B
  • 1-Palmitoleoyl-2-arachidonoyl-sn-glycerol
  • DAG(16:1/20:4)
  • DAG(16:1n7/20:4n6)
  • DAG(16:1w7/20:4w6)
  • DAG(36:5)
Diglycerides Group C
  • 1-Pentadecanoyl-3-behenoyl-sn-glycerol
  • 1-Pentadecanoyl-3-docosanoyl-sn-glycerol
  • DAG(15:0/0:0/22:0)
  • DAG(37:0)
  • DG(37:0)
Diglycerides Group D
  • 1,2-Didocosahexaenoyl-rac-glycerol
  • DAG(22:6/22:6)
  • DAG(22:6n3/22:6n3)
  • DAG(22:6w3/22:6w3)
  • DAG(44:12)
Inositol 1,4,5-trisphosphate
  • 1D-Myo-Inositol 1,4,5-trisphosphate
  • D-Myo-Inositol 1,4,5-trisphosphate
  • Inositol 1,4,5-trisphosphate
88269-39-0

(5) Tocris Compounds for PLCE1 Gene

Compound Action Cas Number
AACOCF3 Phospholipase A2 inhibitor 149301-79-1
Edelfosine Selective PI-PLC inhibitor, also PAF receptor agonist 77286-66-9
m-3M3FBS Phospholipase C activator 200933-14-8
o-3M3FBS Inactive analog of m-3M3FBS (Cat. No. 1941) 313981-55-4
U 73122 Phospholipase C inhibitor 112648-68-7
genes like me logo Genes that share compounds with PLCE1: view

Transcripts for PLCE1 Gene

Unigene Clusters for PLCE1 Gene

Phospholipase C, epsilon 1:
Representative Sequences:

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for PLCE1 Gene

No ASD Table

Relevant External Links for PLCE1 Gene

GeneLoc Exon Structure for
PLCE1
ECgene alternative splicing isoforms for
PLCE1

Expression for PLCE1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for PLCE1 Gene

mRNA differential expression in normal tissues according to GTEx for PLCE1 Gene

This gene is overexpressed in Artery - Tibial (x4.0).

Protein differential expression in normal tissues from HIPED for PLCE1 Gene

This gene is overexpressed in Adipocyte (47.2) and Heart (12.6).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for PLCE1 Gene



Protein tissue co-expression partners for PLCE1 Gene

NURSA nuclear receptor signaling pathways regulating expression of PLCE1 Gene:

PLCE1

SOURCE GeneReport for Unigene cluster for PLCE1 Gene:

Hs.655033

mRNA Expression by UniProt/SwissProt for PLCE1 Gene:

Q9P212-PLCE1_HUMAN
Tissue specificity: Widely expressed. Isoform 1 is broadly expressed and only absent in peripheral blood leukocytes. Isoform 2 is specifically expressed in placenta, lung and spleen.

Evidence on tissue expression from TISSUES for PLCE1 Gene

  • Nervous system(4.3)
  • Heart(4.2)
  • Pancreas(4.2)
  • Kidney(2.1)

Phenotype-based relationships between genes and organs from Gene ORGANizer for PLCE1 Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
Systems:
  • cardiovascular
  • digestive
  • immune
  • integumentary
  • respiratory
  • urinary
Regions:
Head and neck:
  • ear
Thorax:
  • heart
  • lung
Abdomen:
  • kidney
General:
  • blood
  • blood vessel
  • coagulation system
  • red blood cell
  • skin
genes like me logo Genes that share expression patterns with PLCE1: view

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery for PLCE1 Gene

Orthologs for PLCE1 Gene

This gene was present in the common ancestor of animals and fungi.

Orthologs for PLCE1 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia PLCE1 33 34
  • 99.45 (n)
cow
(Bos Taurus)
Mammalia PLCE1 33 34
  • 88.85 (n)
dog
(Canis familiaris)
Mammalia PLCE1 33 34
  • 88.56 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia -- 34
  • 87 (a)
OneToMany
-- 34
  • 87 (a)
OneToMany
-- 34
  • 86 (a)
OneToMany
-- 34
  • 84 (a)
OneToMany
-- 34
  • 76 (a)
OneToMany
-- 34
  • 68 (a)
OneToMany
-- 34
  • 48 (a)
OneToMany
-- 34
  • 46 (a)
OneToMany
-- 34
  • 33 (a)
OneToMany
-- 34
  • 31 (a)
OneToMany
-- 34
  • 28 (a)
OneToMany
-- 34
  • 20 (a)
OneToMany
-- 34
  • 13 (a)
OneToMany
mouse
(Mus musculus)
Mammalia Plce1 33 16 34
  • 84.79 (n)
rat
(Rattus norvegicus)
Mammalia Plce1 33
  • 84.66 (n)
oppossum
(Monodelphis domestica)
Mammalia PLCE1 34
  • 77 (a)
OneToOne
chicken
(Gallus gallus)
Aves LOC425224 33
  • 73.67 (n)
PLCE1 34
  • 72 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia PLCE1 34
  • 72 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia plce1 33
  • 73.69 (n)
zebrafish
(Danio rerio)
Actinopterygii PLCE1 34
  • 70 (a)
OneToOne
plce1 33
  • 65.67 (n)
worm
(Caenorhabditis elegans)
Secernentea plc-1 33 34
  • 46.35 (n)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes PLC1 34
  • 26 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea -- 34
  • 56 (a)
OneToOne
Species where no ortholog for PLCE1 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • fruit fly (Drosophila melanogaster)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for PLCE1 Gene

ENSEMBL:
Gene Tree for PLCE1 (if available)
TreeFam:
Gene Tree for PLCE1 (if available)

Paralogs for PLCE1 Gene

Paralogs for PLCE1 Gene

Pseudogenes.org Pseudogenes for PLCE1 Gene

genes like me logo Genes that share paralogs with PLCE1: view

Variants for PLCE1 Gene

Sequence variations from dbSNP and Humsavar for PLCE1 Gene

SNP ID Clin Chr 10 pos Variation AA Info Type
rs1031405568 uncertain-significance, Nephrotic syndrome 94,328,333(+) A/G 3_prime_UTR_variant, genic_downstream_transcript_variant
rs1056165276 uncertain-significance, Nephrotic syndrome 94,262,555(+) G/A coding_sequence_variant, synonymous_variant
rs10882386 benign, Nephrotic syndrome 94,030,912(+) G/A 5_prime_UTR_variant, genic_upstream_transcript_variant
rs11187771 uncertain-significance, Nephrotic syndrome 94,031,000(+) A/G 5_prime_UTR_variant, genic_upstream_transcript_variant
rs11187870 likely-benign, Nephrotic syndrome 94,328,109(+) G/C 3_prime_UTR_variant, genic_downstream_transcript_variant

Structural Variations from Database of Genomic Variants (DGV) for PLCE1 Gene

Variant ID Type Subtype PubMed ID
dgv485e59 CNV tandem duplication 20981092
esv1967938 CNV deletion 18987734
esv275010 CNV gain+loss 21479260
esv2761616 CNV gain 21179565
esv3415964 CNV duplication 20981092
esv3624247 CNV loss 21293372
esv3624248 CNV loss 21293372
esv3624249 CNV loss 21293372
nsv1127133 CNV deletion 24896259
nsv825525 CNV loss 20364138
nsv831946 CNV loss 17160897

Variation tolerance for PLCE1 Gene

Residual Variation Intolerance Score: 5.84% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 23.42; 99.55% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for PLCE1 Gene

Human Gene Mutation Database (HGMD)
PLCE1
SNPedia medical, phenotypic, and genealogical associations of SNPs for
PLCE1

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for PLCE1 Gene

Disorders for PLCE1 Gene

MalaCards: The human disease database

(15) MalaCards diseases for PLCE1 Gene - From: HGMD, OMIM, ClinVar, GTR, Orphanet, Swiss-Prot, DISEASES, and GeneCards

UniProtKB/Swiss-Prot

PLCE1_HUMAN
  • Nephrotic syndrome 3 (NPHS3) [MIM:610725]: A form of nephrotic syndrome, a renal disease clinically characterized by severe proteinuria, resulting in complications such as hypoalbuminemia, hyperlipidemia and edema. Kidney biopsies show non-specific histologic changes such as focal segmental glomerulosclerosis and diffuse mesangial proliferation. Some affected individuals have an inherited steroid-resistant form and progress to end-stage renal failure. Most patients with NPHS3 show diffuse mesangial sclerosis on renal biopsy, which is a pathologic entity characterized by mesangial matrix expansion with no mesangial hypercellularity, hypertrophy of the podocytes, vacuolized podocytes, thickened basement membranes, and diminished patency of the capillary lumen. {ECO:0000269 PubMed:17086182}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Additional Disease Information for PLCE1

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
genes like me logo Genes that share disorders with PLCE1: view

No data available for Genatlas for PLCE1 Gene

Publications for PLCE1 Gene

  1. A novel bifunctional phospholipase c that is regulated by Galpha 12 and stimulates the Ras/mitogen-activated protein kinase pathway. (PMID: 11022047) Lopez I … Lomasney JW (The Journal of biological chemistry 2001) 2 3 4 58
  2. Regulation of a novel human phospholipase C, PLCepsilon, through membrane targeting by Ras. (PMID: 11022048) Song C … Kataoka T (The Journal of biological chemistry 2001) 2 3 4 58
  3. Genome-wide association study identifies six new loci influencing pulse pressure and mean arterial pressure. (PMID: 21909110) Wain LV … van Duijn CM (Nature genetics 2011) 3 44 58
  4. Genetic variants in novel pathways influence blood pressure and cardiovascular disease risk. (PMID: 21909115) International Consortium for Blood Pressure Genome-Wide Association Studies … Johnson T (Nature 2011) 3 44 58
  5. Genome-wide association study of personality traits in bipolar patients. (PMID: 21368711) Alliey-Rodriguez N … Gershon ES (Psychiatric genetics 2011) 3 44 58

Products for PLCE1 Gene

Sources for PLCE1 Gene

Content
Loading form....