This gene encodes a member of the phospholipase C family. Phospholipase C isozymes play critical roles in intracellular signal transduction by catalyzing the hydrolysis of phosphatidylinositol 4,5-bisphosphate (PIP2) into the second messengers diacylglycerol (DAG) and inositol triphosphate (IP3). The encoded protein functions as a tumor suppressor in several types of cancer, an... See more...

Aliases for PLCD1 Gene

Aliases for PLCD1 Gene

  • Phospholipase C Delta 1 2 3 5
  • 1-Phosphatidylinositol 4,5-Bisphosphate Phosphodiesterase Delta-1 2 3 4
  • Phosphoinositide Phospholipase C-Delta-1 3 4
  • Phospholipase C-III 3 4
  • PLC-Delta-1 3 4
  • EC 3.1.4.11 4 51
  • PLC-III 3 4
  • Epididymis Secretory Sperm Binding Protein 3
  • Phospholipase C, Delta 1 2
  • Phospholipase C-Delta-1 4
  • Phospholipase C I 1 3
  • Phospholipase C Δ1 2
  • NDNC3 3
  • PLCD1 5

External Ids for PLCD1 Gene

Previous GeneCards Identifiers for PLCD1 Gene

  • GC03M037350
  • GC03U900338
  • GC03M038009
  • GC03M038023

Summaries for PLCD1 Gene

Entrez Gene Summary for PLCD1 Gene

  • This gene encodes a member of the phospholipase C family. Phospholipase C isozymes play critical roles in intracellular signal transduction by catalyzing the hydrolysis of phosphatidylinositol 4,5-bisphosphate (PIP2) into the second messengers diacylglycerol (DAG) and inositol triphosphate (IP3). The encoded protein functions as a tumor suppressor in several types of cancer, and mutations in this gene are a cause of hereditary leukonychia. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Dec 2011]

GeneCards Summary for PLCD1 Gene

PLCD1 (Phospholipase C Delta 1) is a Protein Coding gene. Diseases associated with PLCD1 include Nail Disorder, Nonsyndromic Congenital, 3 and Ocular Tuberculosis. Among its related pathways are Sweet Taste Signaling and Calcium signaling pathway. Gene Ontology (GO) annotations related to this gene include calcium ion binding and phosphoric diester hydrolase activity. An important paralog of this gene is PLCD3.

UniProtKB/Swiss-Prot Summary for PLCD1 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. Essential for trophoblast and placental development.

Tocris Summary for PLCD1 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 PLCD1 Gene

No data available for CIViC Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for PLCD1 Gene

Genomics for PLCD1 Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for PLCD1 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
GH03J038028 Promoter/Enhancer 2.3 EPDnew FANTOM5 Ensembl ENCODE CraniofacialAtlas dbSUPER 610 -0.3 -319 4.6 IKZF1 KDM1A ZNF692 REST EZH2 JUND EGR1 CEBPB CHD2 RCOR1 PLCD1 DLEC1
GH03J038037 Promoter/Enhancer 1.9 EPDnew Ensembl ENCODE CraniofacialAtlas dbSUPER 5.9 -9.5 -9477 3 CTCF RFX1 REST RAD21 ZNF24 EZH2 HDAC1 NRF1 MGA SIN3A DLEC1 PLCD1 PPP2R2DP1 ACAA1
GH03J038147 Enhancer 1.5 FANTOM5 Ensembl ENCODE dbSUPER 5.4 -119.5 -119539 13 CEBPG CREB1 CTCF PRDM10 ZNF629 LEF1 IKZF1 JUND FOXA1 PRDM1 VILL MYD88 OXSR1 ACAA1 SLC22A13 PLCD1 MF281454 lnc-ACAA1-2
GH03J038164 Promoter/Enhancer 2.5 EPDnew FANTOM5 Ensembl ENCODE CraniofacialAtlas dbSUPER 3 -137.6 -137603 7.7 SP1 CREB1 GATAD2A ATF7 PRDM10 REST ZNF629 LEF1 IKZF1 NFKBIZ OXSR1 LOC101928234 lnc-ACAA1-2 GORASP1 C3orf35 ACAA1 MYD88 SLC22A13 ACVR2B-AS1 VILL
GH03J038015 Enhancer 0.9 dbSUPER 5 +11.6 11606 6.2 IKZF1 MTA2 ZIC2 MTA1 REST BRD9 ZNF24 DPF2 HDAC1 GABPA VILL CTDSPL ITGA9-AS1 PLCD1 ENSG00000200579 MF281438-016 lnc-ACAA1-4
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around PLCD1 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for PLCD1

Top Transcription factor binding sites by QIAGEN in the PLCD1 gene promoter:
  • NF-kappaB
  • NF-kappaB1
  • p53
  • RelA

Genomic Locations for PLCD1 Gene

Genomic Locations for PLCD1 Gene
chr3:38,007,496-38,029,762
(GRCh38/hg38)
Size:
22,267 bases
Orientation:
Minus strand
chr3:38,048,987-38,071,253
(GRCh37/hg19)
Size:
22,267 bases
Orientation:
Minus strand

Genomic View for PLCD1 Gene

Genes around PLCD1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
PLCD1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for PLCD1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for PLCD1 Gene

Proteins for PLCD1 Gene

  • Protein details for PLCD1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P51178-PLCD1_HUMAN
    Recommended name:
    1-phosphatidylinositol 4,5-bisphosphate phosphodiesterase delta-1
    Protein Accession:
    P51178
    Secondary Accessions:
    • B3KR14
    • Q86VN8

    Protein attributes for PLCD1 Gene

    Size:
    756 amino acids
    Molecular mass:
    85665 Da
    Cofactor:
    Name=Ca(2+); Xref=ChEBI:CHEBI:29108;
    Quaternary structure:
    No Data Available

    Alternative splice isoforms for PLCD1 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for PLCD1 Gene

Selected DME Specific Peptides for PLCD1 Gene

P51178:
  • KGCRCLE
  • CGYVLKP
  • SSTEAYIR
  • SSHNTYL
  • VALNFQT
  • KADKNKD
  • YPVILSLE
  • YHGYTFTSK
  • YAFKASPYP

Post-translational modifications for PLCD1 Gene

  • Glycosylation at Ser191 and Thr193
  • Modification sites at PhosphoSitePlus

Other Protein References for PLCD1 Gene

Domains & Families for PLCD1 Gene

Gene Families for PLCD1 Gene

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

Protein Domains for PLCD1 Gene

Suggested Antigen Peptide Sequences for PLCD1 Gene

GenScript: Design optimal peptide antigens:
  • cDNA FLJ33455 fis, clone BRAMY2000354, highly similar to 1-phosphatidylinositol-4,5-bisphosphatephosphodiesterase delta 1 (EC 3.1.4.11) (B3KR14_HUMAN)
  • Phospholipase C-delta-1 (PLCD1_HUMAN)
genes like me logo Genes that share domains with PLCD1: view

No data available for Graphical View of Domain Structure and UniProtKB/Swiss-Prot for PLCD1 Gene

Function for PLCD1 Gene

Molecular function for PLCD1 Gene

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. Essential for trophoblast and placental development.
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=a 1,2-diacyl-sn-glycero-3-phospho-(1D-myo-inositol-4,5-bisphosphate) + H2O = 1D-myo-inositol 1,4,5-trisphosphate + a 1,2-diacyl-sn-glycerol + H(+); Xref=Rhea:RHEA:33179, ChEBI:CHEBI:15377, ChEBI:CHEBI:15378, ChEBI:CHEBI:17815, ChEBI:CHEBI:58456, ChEBI:CHEBI:203600; EC=3.1.4.11;.
GENATLAS Biochemistry:
phospholipase C,delta 1,involved in signal transduction

Enzyme Numbers (IUBMB) for PLCD1 Gene

Phenotypes From GWAS Catalog for PLCD1 Gene

Gene Ontology (GO) - Molecular Function for PLCD1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0004435 phosphatidylinositol phospholipase C activity IBA 21873635
GO:0005509 calcium ion binding IEA --
GO:0005546 phosphatidylinositol-4,5-bisphosphate binding IDA 11001876
GO:0008081 phosphoric diester hydrolase activity IEA --
GO:0016787 hydrolase activity IEA --
genes like me logo Genes that share ontologies with PLCD1: view
genes like me logo Genes that share phenotypes with PLCD1: view

Human Phenotype Ontology for PLCD1 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for PLCD1 Gene

MGI Knock Outs for PLCD1:

Animal Model Products

  • Taconic Biosciences Mouse Models for PLCD1

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for PLCD1

No data available for Transcription Factor Targets and HOMER Transcription for PLCD1 Gene

Localization for PLCD1 Gene

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 PLCD1 gene
Compartment Confidence
plasma membrane 4
extracellular 4
cytosol 4
cytoskeleton 3
mitochondrion 2
nucleus 2
endoplasmic reticulum 1
endosome 1
lysosome 1
golgi apparatus 1
peroxisome 0

Subcellular locations from the

Human Protein Atlas (HPA)

Gene Ontology (GO) - Cellular Components for PLCD1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005623 cell IEA --
GO:0005737 cytoplasm IDA 15702972
GO:0005829 cytosol IEA --
GO:0005886 plasma membrane TAS --
GO:0070062 extracellular exosome HDA 19056867
genes like me logo Genes that share ontologies with PLCD1: view

No data available for Subcellular locations from UniProtKB/Swiss-Prot for PLCD1 Gene

Pathways & Interactions for PLCD1 Gene

PathCards logo

SuperPathways for PLCD1 Gene

SuperPathway Contained pathways
1 Inositol phosphate metabolism (KEGG)
2 Activation of cAMP-Dependent PKA
.77
.77
.71
.56
3 CREB Pathway
.68
.68
.63
.50
4 Sweet Taste Signaling
.72
.72
.46
.37
5 Neuropathic Pain-Signaling in Dorsal Horn Neurons
.47
.47
.40
genes like me logo Genes that share pathways with PLCD1: view

Pathways by source for PLCD1 Gene

4 GeneGo (Thomson Reuters) pathways for PLCD1 Gene
  • Anandamide biosynthesis and metabolism
  • Cytoskeleton remodeling_RalB regulation pathway
  • Development Activation of ERK by Alpha-1 adrenergic receptors
  • G-protein signaling_Rap1A regulation pathway
38 Qiagen pathways for PLCD1 Gene
  • 14-3-3 Induced Intracellular Signaling
  • Activation of cAMP-Dependent PKA
  • Activation of PKA through GPCR
  • Activation of PKC through GPCR
  • Aldosterone Signaling in Epithelial Cells
1 GeneTex pathway for PLCD1 Gene

Gene Ontology (GO) - Biological Process for PLCD1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001525 angiogenesis IEA --
GO:0006629 lipid metabolic process IEA --
GO:0006644 phospholipid metabolic process TAS 9588182
GO:0007165 signal transduction IEA --
GO:0016042 lipid catabolic process IEA --
genes like me logo Genes that share ontologies with PLCD1: view

No data available for SIGNOR curated interactions for PLCD1 Gene

Drugs & Compounds for PLCD1 Gene

(11) Drugs for PLCD1 Gene - From: DrugBank, HMDB, Tocris, and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Water Approved Pharma 0
1D-myo-inositol 1,4,5-trisphosphate Experimental Pharma Target 0
Inositol 2,4,5-trisphosphate Experimental Pharma Target 0
Calcium Nutra 6556
AACOCF3 Pharma Inhibitor of cPLA2/anandamide hydrolysis/FAAH, Phospholipase A2 inhibitor 0

(397) Additional Compounds for PLCD1 Gene - From: HMDB, Novoseek, and Tocris

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
Diglycerides Group A
  • (2R)-2-Hydroxy-3-(pentadecanoyloxy)propyl (5Z,8Z,11Z)-icosa-5,8,11,14-tetraenoic acid
  • DG(15:0/0:0/20:4n6)
  • Diacylglycerol(15:0/0:0/20:4)
  • DG(35:4)
  • DAG(15:0/0:0/20:4)
Diglycerides Group B
  • 1-Myristoyl-2-eicosadienoyl-sn-glycerol
  • DAG(14:0/20:2)
  • DAG(14:0/20:2N6)
  • DAG(14:0/20:2W6)
  • DAG(34:2)
Diglycerides Group C
  • 1-(9Z-Octadecenoyl)-2-hexadecanoyl-sn-glycerol
  • 1-O-Oleoyl-2-O-palmitoyl-sn-glycerol
  • DG (18:1(9Z)/16:0/0:0)
  • DG(18:1/16:0)
  • Diglyceride
Diglycerides Group D
  • 1,2-Di-(4Z,7Z,10Z,13Z,16Z,19Z-docosahexaenoyl)-sn-glycerol
  • 1,2-Didocosahexaenoyl-sn-glycerol
  • DAG(22:6/22:6)
  • DAG(22:6N3/22:6N3)
  • DAG(22:6OMEGA3/22:6OMEGA3)
Inositol 1,4,5-trisphosphate
  • 1,4,5-Insp3
  • D-myo-Inositol 1,4,5-trisphosphate
  • D-myo-INOSITOL-1,4,5-triphosphATE
  • Ins(1,4,5)P3
  • InsP3
88269-39-0

(5) Tocris Compounds for PLCD1 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 PLCD1: view

Transcripts for PLCD1 Gene

mRNA/cDNA for PLCD1 Gene

2 REFSEQ mRNAs :
12 NCBI additional mRNA sequence :
9 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for PLCD1

Alternative Splicing Database (ASD) splice patterns (SP) for PLCD1 Gene

ExUns: 1a · 1b · 1c ^ 2a · 2b · 2c ^ 3a · 3b · 3c · 3d ^ 4 ^ 5a · 5b · 5c ^ 6a · 6b ^ 7a · 7b · 7c · 7d ^ 8 ^ 9 ^ 10 ^ 11 ^ 12 ^ 13 ^
SP1: - - - -
SP2: - -
SP3:
SP4: - - - - -
SP5:
SP6: - - - - -
SP7: - - - - - - - - - - - -
SP8: - - -
SP9:
SP10:

ExUns: 14a · 14b ^ 15a · 15b ^ 16a · 16b ^ 17 ^ 18
SP1: -
SP2: -
SP3:
SP4:
SP5:
SP6:
SP7:
SP8:
SP9:
SP10:

Relevant External Links for PLCD1 Gene

GeneLoc Exon Structure for
PLCD1

Expression for PLCD1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for PLCD1 Gene

Protein differential expression in normal tissues from HIPED for PLCD1 Gene

This gene is overexpressed in Spinal cord (15.0) and Brain (6.7).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for PLCD1 Gene



Protein tissue co-expression partners for PLCD1 Gene

- Elite partner

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for PLCD1

SOURCE GeneReport for Unigene cluster for PLCD1 Gene:

Hs.80776

Evidence on tissue expression from TISSUES for PLCD1 Gene

  • Nervous system(4.8)
  • Liver(4.4)
  • Skin(2.3)
  • Kidney(2.2)
  • Muscle(2.1)

Phenotype-based relationships between genes and organs from Gene ORGANizer for PLCD1 Gene

Germ Layers:
  • ectoderm
  • mesoderm
Systems:
  • integumentary
  • nervous
  • urinary
Regions:
Head and neck:
  • brain
  • eye
  • eyelid
  • face
  • head
Abdomen:
  • kidney
Pelvis:
  • ureter
Limb:
  • digit
  • finger
  • foot
  • hand
  • lower limb
  • nail
  • toe
  • upper limb
General:
  • skin
genes like me logo Genes that share expression patterns with PLCD1: view

No data available for mRNA differential expression in normal tissues and mRNA Expression by UniProt/SwissProt for PLCD1 Gene

Orthologs for PLCD1 Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for PLCD1 Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
Mammalia PLCD1 30 31
  • 98.85 (n)
OneToOne
Dog
(Canis familiaris)
Mammalia PLCD1 30 31
  • 90.83 (n)
OneToOne
Cow
(Bos Taurus)
Mammalia PLCD1 30 31
  • 89.53 (n)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Plcd1 30
  • 86.67 (n)
Mouse
(Mus musculus)
Mammalia Plcd1 30 17 31
  • 86.44 (n)
OneToOne
Platypus
(Ornithorhynchus anatinus)
Mammalia PLCD1 31
  • 65 (a)
OneToOne
Chicken
(Gallus gallus)
Aves PLCD1 30 31
  • 68.56 (n)
OneToOne
Lizard
(Anolis carolinensis)
Reptilia PLCD1 31
  • 67 (a)
OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia plcd1 30
  • 66.58 (n)
Zebrafish
(Danio rerio)
Actinopterygii plcd1a 31
  • 55 (a)
OneToMany
plcd1b 31
  • 54 (a)
OneToMany
wufj78d10 30
Rice
(Oryza sativa)
Liliopsida Os05g0127200 30
  • 47.79 (n)
Sea Squirt
(Ciona savignyi)
Ascidiacea -- 31
  • 39 (a)
OneToMany
Species where no ortholog for PLCD1 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium 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)
  • Baker's yeast (Saccharomyces cerevisiae)
  • 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)
  • Oppossum (Monodelphis domestica)
  • Orangutan (Pongo pygmaeus)
  • Pig (Sus scrofa)
  • Rainbow Trout (Oncorhynchus mykiss)
  • Rice Blast Fungus (Magnaporthe grisea)
  • Schistosome Parasite (Schistosoma mansoni)
  • Sea Anemone (Nematostella vectensis)
  • Sea Vase (Ciona intestinalis)
  • 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)
  • Worm (Caenorhabditis elegans)

Evolution for PLCD1 Gene

ENSEMBL:
Gene Tree for PLCD1 (if available)
TreeFam:
Gene Tree for PLCD1 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for PLCD1: view image

Paralogs for PLCD1 Gene

(9) SIMAP similar genes for PLCD1 Gene using alignment to 1 proteins:

  • PLCD1_HUMAN
genes like me logo Genes that share paralogs with PLCD1: view

Variants for PLCD1 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for PLCD1 Gene

SNP ID Clinical significance and condition Chr 03 pos Variation AA Info Type
708751 Likely Benign: not provided 38,009,136(-) G/A NON_CODING_TRANSCRIPT_VARIANT,SYNONYMOUS_VARIANT
722257 Likely Benign: not provided 38,010,556(-) G/A MISSENSE_VARIANT,NON_CODING_TRANSCRIPT_VARIANT
722576 Likely Benign: not provided 38,016,680(-) C/T MISSENSE_VARIANT,NON_CODING_TRANSCRIPT_VARIANT
722932 Likely Benign: not provided 38,024,352(-) T/C MISSENSE_VARIANT,NON_CODING_TRANSCRIPT_VARIANT,INTRON_VARIANT
729308 Likely Benign: not provided 38,010,504(-) G/A NON_CODING_TRANSCRIPT_VARIANT,SYNONYMOUS_VARIANT

Additional dbSNP identifiers (rs#s) for PLCD1 Gene

Structural Variations from Database of Genomic Variants (DGV) for PLCD1 Gene

Variant ID Type Subtype PubMed ID
esv2759140 CNV loss 17122850
nsv428416 CNV loss 18775914
nsv508911 CNV insertion 20534489
nsv509821 OTHER sequence alteration 20534489
nsv522354 CNV loss 19592680
nsv590094 CNV loss 21841781
nsv590101 CNV loss 21841781
nsv822058 CNV gain 20364138

Variation tolerance for PLCD1 Gene

Residual Variation Intolerance Score: 24.4% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 6.17; 75.86% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for PLCD1 Gene

Human Gene Mutation Database (HGMD)
PLCD1
SNPedia medical, phenotypic, and genealogical associations of SNPs for
PLCD1

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for PLCD1 Gene

Disorders for PLCD1 Gene

MalaCards: The human disease database

(3) MalaCards diseases for PLCD1 Gene - From: UniProtKB/Swiss-Prot, OMIM, ClinVar, GTR, Orphanet, DISEASES, and GeneCards

- elite association - COSMIC cancer census association via MalaCards
Search PLCD1 in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

PLCD1_HUMAN
  • Nail disorder, non-syndromic congenital, 3 (NDNC3) [MIM:151600]: A nail disorder characterized by a white appearance of the nail plate (true leukonychia), the nail bed (pseudoleukonychia), or neither (apparent leukonychia). Leukonychia may involve all of the nail (leukonychia totalis) or only part of the nail (leukonychia partialis), or can appear as one or more transverse bands (leukonychia striata) or white spots (leukonychia punctata). {ECO:0000269 PubMed:21665001}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Additional Disease Information for PLCD1

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
Open Targets Platform
genes like me logo Genes that share disorders with PLCD1: view

No data available for Genatlas for PLCD1 Gene

Publications for PLCD1 Gene

  1. Genomic structure of the human PLCD1 (phospholipase C delta 1) locus on 3p22-->p21.3. (PMID: 9345909) Ishikawa S … Nakamura Y (Cytogenetics and cell genetics 1997) 2 3 23
  2. Cloning and identification of amino acid residues of human phospholipase C delta 1 essential for catalysis. (PMID: 7890667) Cheng HF … King K (The Journal of biological chemistry 1995) 3 4 23
  3. Hereditary leukonychia, or porcelain nails, resulting from mutations in PLCD1. (PMID: 21665001) Kiuru M … Christiano AM (American journal of human genetics 2011) 3 4
  4. The small GTPase Ral couples the angiotensin II type 1 receptor to the activation of phospholipase C-delta 1. (PMID: 20018811) Godin CM … Ferguson SS (Molecular pharmacology 2010) 3 23
  5. Variation at the NFATC2 locus increases the risk of thiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipril and rosiglitazone Medication (DREAM) study. (PMID: 20628086) Bailey SD … DREAM investigators (Diabetes care 2010) 3 41

Products for PLCD1 Gene

Sources for PLCD1 Gene