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Aliases for PLCD4 Gene

Aliases for PLCD4 Gene

  • Phospholipase C Delta 4 2 3 5
  • EC 3.1.4.11 4 58
  • Phosphoinositide Phospholipase C-Delta-4 4
  • Phospholipase C, Delta 4 2
  • Phospholipase C-Delta-4 4
  • PLC-Delta-4 4
  • HPLCD4 4

External Ids for PLCD4 Gene

Previous GeneCards Identifiers for PLCD4 Gene

  • GC02U990230
  • GC02P218193
  • GC02P219436
  • GC02P219675
  • GC02P219298
  • GC02P219180
  • GC02P211325
  • GC02P219473

Summaries for PLCD4 Gene

Entrez Gene Summary for PLCD4 Gene

  • This gene encodes a member of the delta class of phospholipase C enzymes. Phospholipase C enzymes play a critical role in many cellular processes by hydrolyzing phosphatidylinositol 4,5-bisphosphate into two intracellular second messengers, inositol 1,4,5-trisphosphate and diacylglycerol. Expression of this gene may be a marker for cancer. [provided by RefSeq, Jan 2011]

GeneCards Summary for PLCD4 Gene

PLCD4 (Phospholipase C Delta 4) is a Protein Coding gene. Diseases associated with PLCD4 include Obstructive Hydrocephalus. Among its related pathways are Calcium signaling pathway and Phospholipase-C Pathway. 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 for PLCD4 Gene

  • Hydrolyzes the phosphatidylinositol 4,5-bisphosphate (PIP2) to generate 2 second messenger molecules diacylglycerol (DAG) and inositol 1,4,5-trisphosphate (IP3). DAG mediates the activation of protein kinase C (PKC), while IP3 releases Ca(2+) from intracellular stores. Required for acrosome reaction in sperm during fertilization, probably by acting as an important enzyme for intracellular Ca(2+) mobilization in the zona pellucida-induced acrosome reaction. May play a role in cell growth. Modulates the liver regeneration in cooperation with nuclear PKC. Overexpression up-regulates the Erk signaling pathway and proliferation.

Tocris Summary for PLCD4 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 PLCD4 Gene

Additional gene information for PLCD4 Gene

No data available for CIViC summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for PLCD4 Gene

Genomics for PLCD4 Gene

Regulatory Elements for PLCD4 Gene

Enhancers for PLCD4 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH02H218566 1.8 FANTOM5 ENCODE dbSUPER 21.5 -38.4 -38448 4 HDGF PKNOX1 MLX ARNT ARID4B SIN3A FEZF1 DMAP1 ZNF2 ZBTB7B AAMP CNOT9 USP37 PLCD4 BCS1L NHEJ1 CNPPD1 SLC23A3 ZNF142 RNF25
GH02H218730 2 FANTOM5 Ensembl ENCODE dbSUPER 18.4 +124.9 124925 4 FOXA2 MLX ARNT ARID4B SIN3A YY1 SLC30A9 FOS SP5 MXD4 SLC11A1 BCS1L CYP27A1 PLCD4 NHEJ1 ANKZF1 SLC23A3 AAMP GMPPA RNF25
GH02H218743 1.5 Ensembl ENCODE dbSUPER 19.2 +137.3 137319 3 HDGF PKNOX1 ATF1 ARNT ARID4B DMAP1 ATF7 RUNX3 NCOA1 JUNB CYP27A1 PLCD4 TTLL4 PRKAG3 RNF25 STK36 GC02P218766
GH02H218781 1.6 FANTOM5 Ensembl ENCODE 17.2 +175.8 175849 5 PKNOX1 FOXA2 MLX ZFP64 ARID4B DMAP1 YY1 FOS SP5 MXD4 CYP27A1 PLCD4 TTLL4 PRKAG3 PNKD SLC11A1 RNF25 TMBIM1 ENSG00000272555
GH02H218443 1 ENCODE 21.5 -161.9 -161930 4 PKNOX1 FOXA2 ATF1 MLX ARID4B SIN3A DMAP1 YY1 TCF12 FOS CNOT9 PLCD4 USP37 VIL1 RN7SKP38
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around PLCD4 on UCSC Golden Path with GeneCards custom track

Genomic Location for PLCD4 Gene

Chromosome:
2
Start:
218,607,765 bp from pter
End:
218,637,186 bp from pter
Size:
29,422 bases
Orientation:
Plus strand

Genomic View for PLCD4 Gene

Genes around PLCD4 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
PLCD4 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for PLCD4 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for PLCD4 Gene

Proteins for PLCD4 Gene

  • Protein details for PLCD4 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9BRC7-PLCD4_HUMAN
    Recommended name:
    1-phosphatidylinositol 4,5-bisphosphate phosphodiesterase delta-4
    Protein Accession:
    Q9BRC7
    Secondary Accessions:
    • Q53FS8

    Protein attributes for PLCD4 Gene

    Size:
    762 amino acids
    Molecular mass:
    87585 Da
    Cofactor:
    Name=Ca(2+); Xref=ChEBI:CHEBI:29108;
    Quaternary structure:
    • Interacts with GRIP1.

    Alternative splice isoforms for PLCD4 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for PLCD4 Gene

Selected DME Specific Peptides for PLCD4 Gene

Q9BRC7:
  • FYEISSFSE
  • SSFSETKA
  • PLNHYFI
  • GYRHIHLLS
  • DTARQET
  • NQDGKMS
  • GYVLKPDFLRD
  • AKPSFSISDV
  • DGFLSYLCS
  • QERLDQWLSDWFQRGDKNQDG
  • HLTEILGEQLLSTTLDG
  • CGYVLKP
  • CLPIYQDMTQPL
  • SIVDPLV
  • TDQDLLLMQEG
  • DYDWKSRNDF
  • GCQMVAMNMQTAG
  • SGTLEGEEFV
  • LMNVEMD
  • MRKVRSKSWKKLR
  • DGMTVWH
  • SSHNTYL
  • EGYIRALKRGCRCVEVD
  • SGKLRHVLSMDGFL
  • VDPLVKV
  • EYAFSLFQ
  • YPVILSLE
  • LTKRAEVQELFE
  • RVYPSGLRTDSSN
  • YHGHTLT
  • SSVEGYIR
  • ILCPALS

Post-translational modifications for PLCD4 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Domains & Families for PLCD4 Gene

Gene Families for PLCD4 Gene

Suggested Antigen Peptide Sequences for PLCD4 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q9BRC7

UniProtKB/Swiss-Prot:

PLCD4_HUMAN :
  • The PDZ-binding motif mediates the interaction with GRIP1.
Domain:
  • The PDZ-binding motif mediates the interaction with GRIP1.
  • The C2 domain mediates pre-localization to the membrane prior to Ca(2+) import and non-selective Ca(2+)-mediated targeting to various cellular membranes.
  • The PH domain is not a critical determinant of the membrane localization.
genes like me logo Genes that share domains with PLCD4: view

Function for PLCD4 Gene

Molecular function for PLCD4 Gene

GENATLAS Biochemistry:
phospholipase C,delta 4,involved in signal transduction
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 Function:
Hydrolyzes the phosphatidylinositol 4,5-bisphosphate (PIP2) to generate 2 second messenger molecules diacylglycerol (DAG) and inositol 1,4,5-trisphosphate (IP3). DAG mediates the activation of protein kinase C (PKC), while IP3 releases Ca(2+) from intracellular stores. Required for acrosome reaction in sperm during fertilization, probably by acting as an important enzyme for intracellular Ca(2+) mobilization in the zona pellucida-induced acrosome reaction. May play a role in cell growth. Modulates the liver regeneration in cooperation with nuclear PKC. Overexpression up-regulates the Erk signaling pathway and proliferation.

Enzyme Numbers (IUBMB) for PLCD4 Gene

Phenotypes From GWAS Catalog for PLCD4 Gene

Gene Ontology (GO) - Molecular Function for PLCD4 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0004435 phosphatidylinositol phospholipase C activity TAS --
GO:0004629 phospholipase C activity IEA --
GO:0004871 signal transducer activity IEA --
GO:0005509 calcium ion binding IEA --
GO:0008081 phosphoric diester hydrolase activity IEA --
genes like me logo Genes that share ontologies with PLCD4: view
genes like me logo Genes that share phenotypes with PLCD4: view

Animal Models for PLCD4 Gene

MGI Knock Outs for PLCD4:

Animal Model Products

  • Taconic Biosciences Mouse Models for PLCD4

CRISPR Products

Inhibitory RNA Products

Clone Products

  • Applied Biological Materials Clones for PLCD4
  • Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more

No data available for Human Phenotype Ontology , miRNA , Transcription Factor Targets and HOMER Transcription for PLCD4 Gene

Localization for PLCD4 Gene

Subcellular locations from UniProtKB/Swiss-Prot for PLCD4 Gene

Membrane; Peripheral membrane protein. Nucleus. Cytoplasm. Endoplasmic reticulum. Note=Localizes primarily to intracellular membranes mostly to the endoplasmic reticulum.

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 PLCD4 gene
Compartment Confidence
plasma membrane 5
nucleus 5
cytosol 5
endoplasmic reticulum 4

Subcellular locations from the

Human Protein Atlas (HPA)
  • Cytosol (2)
  • Nuclear membrane (2)
  • Plasma membrane (2)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for PLCD4 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005622 intracellular IEA --
GO:0005634 nucleus IEA --
GO:0005737 cytoplasm IEA --
GO:0005783 endoplasmic reticulum IEA --
GO:0005789 endoplasmic reticulum membrane TAS --
genes like me logo Genes that share ontologies with PLCD4: view

Pathways & Interactions for PLCD4 Gene

genes like me logo Genes that share pathways with PLCD4: view

Gene Ontology (GO) - Biological Process for PLCD4 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006629 lipid metabolic process IEA --
GO:0007165 signal transduction IEA --
GO:0007340 acrosome reaction IEA --
GO:0016042 lipid catabolic process IEA --
GO:0035556 intracellular signal transduction IEA --
genes like me logo Genes that share ontologies with PLCD4: view

No data available for SIGNOR curated interactions for PLCD4 Gene

Drugs & Compounds for PLCD4 Gene

(2) Drugs for PLCD4 Gene - From: HMDB

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

(387) Additional Compounds for PLCD4 Gene - From: HMDB and Tocris

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
1-Phosphatidyl-D-myo-inositol
  • (3-Phosphatidyl)-1-D-inositol
  • 1,2-Diacyl-sn-glycero-3-phosphoinositol
  • 1-Phosphatidyl-1D-myo-inositol
  • 1-Phosphatidyl-myo-inositol
  • Phosphatidyl-1D-myo-inositol
Diglycerides Group A
  • 1,2-Dimyristoyl-rac-glycerol
  • DAG(14:0/14:0)
  • DAG(28:0)
  • DG(14:0/14:0)
  • DG(28:0)
Diglycerides Group B
  • 1-Palmitoleoyl-2-arachidonyl-sn-glycerol
  • DAG(16:1/20:0)
  • DAG(16:1n7/20:0)
  • DAG(16:1w7/20:0)
  • DAG(36:1)
Diglycerides Group C
  • 1-Myristoyl-3-behenoyl-sn-glycerol
  • 1-Tetradecanoyl-3-docosanoyl-sn-glycerol
  • DAG(14:0/0:0/22:0)
  • DAG(36:0)
  • DG(36:0)
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)

(2) Tocris Compounds for PLCD4 Gene

Compound Action Cas Number
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 PLCD4: view

Transcripts for PLCD4 Gene

Unigene Clusters for PLCD4 Gene

Phospholipase C, delta 4:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

Clone Products

  • Applied Biological Materials Clones for PLCD4
  • Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more

Alternative Splicing Database (ASD) splice patterns (SP) for PLCD4 Gene

ExUns: 1a · 1b · 1c ^ 2 ^ 3 ^ 4 ^ 5a · 5b ^ 6a · 6b · 6c · 6d ^ 7 ^ 8 ^ 9a · 9b ^ 10a · 10b ^ 11 ^ 12 ^ 13a · 13b · 13c · 13d ^ 14 ^ 15a ·
SP1: - - - - - -
SP2: - - - - - -
SP3: - - - - - - - -
SP4: - - -
SP5: - - - -
SP6:
SP7: -
SP8:
SP9: -
SP10:

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

Relevant External Links for PLCD4 Gene

GeneLoc Exon Structure for
PLCD4
ECgene alternative splicing isoforms for
PLCD4

Expression for PLCD4 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for PLCD4 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for PLCD4 Gene

This gene is overexpressed in Muscle - Skeletal (x13.1).

Protein differential expression in normal tissues from HIPED for PLCD4 Gene

This gene is overexpressed in Retina (39.6) and Tonsil (10.9).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, and MOPED for PLCD4 Gene



NURSA nuclear receptor signaling pathways regulating expression of PLCD4 Gene:

PLCD4

SOURCE GeneReport for Unigene cluster for PLCD4 Gene:

Hs.632528

mRNA Expression by UniProt/SwissProt for PLCD4 Gene:

Q9BRC7-PLCD4_HUMAN
Tissue specificity: Highly expressed in skeletal muscle and kidney tissues, and at moderate level in intestinal tissue. Expressed in corneal epithelial cells.

Evidence on tissue expression from TISSUES for PLCD4 Gene

  • Nervous system(4.2)
  • Kidney(4.1)
genes like me logo Genes that share expression patterns with PLCD4: view

Primer Products

No data available for Protein tissue co-expression partners and Phenotype-based relationships between genes and organs from Gene ORGANizer for PLCD4 Gene

Orthologs for PLCD4 Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for PLCD4 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia PLCD4 33 34
  • 99.39 (n)
dog
(Canis familiaris)
Mammalia PLCD4 34 33
  • 86.47 (n)
OneToOne
cow
(Bos Taurus)
Mammalia PLCD4 33 34
  • 85.72 (n)
rat
(Rattus norvegicus)
Mammalia Plcd4 33
  • 79.59 (n)
mouse
(Mus musculus)
Mammalia Plcd4 33 16 34
  • 79.15 (n)
oppossum
(Monodelphis domestica)
Mammalia PLCD4 34
  • 71 (a)
OneToOne
chicken
(Gallus gallus)
Aves LOC424214 33
  • 67.12 (n)
PLCD4 34
  • 57 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia PLCD4 34
  • 58 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia plcd4 33
  • 63.64 (n)
zebrafish
(Danio rerio)
Actinopterygii plcd4a 33 34
  • 61.99 (n)
K. lactis yeast
(Kluyveromyces lactis)
Saccharomycetes KLLA0D00638g 33
  • 46.26 (n)
A. gosspyii yeast
(Ashbya gossypii)
Saccharomycetes AGOS_ACR024W 33
  • 45.14 (n)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes PLC1 33
  • 43.92 (n)
thale cress
(Arabidopsis thaliana)
eudicotyledons PLC4 33
  • 45.12 (n)
bread mold
(Neurospora crassa)
Ascomycetes NCU01266 33
  • 46.89 (n)
fission yeast
(Schizosaccharomyces pombe)
Schizosaccharomycetes plc1 33
  • 44.49 (n)
sea squirt
(Ciona savignyi)
Ascidiacea -- 34
  • 39 (a)
OneToMany
Species where no ortholog for PLCD4 was found in the sources mined by GeneCards:
  • 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)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fruit fly (Drosophila melanogaster)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • platypus (Ornithorhynchus anatinus)
  • 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)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for PLCD4 Gene

ENSEMBL:
Gene Tree for PLCD4 (if available)
TreeFam:
Gene Tree for PLCD4 (if available)

Paralogs for PLCD4 Gene

Paralogs for PLCD4 Gene

genes like me logo Genes that share paralogs with PLCD4: view

Variants for PLCD4 Gene

Sequence variations from dbSNP and Humsavar for PLCD4 Gene

SNP ID Clin Chr 02 pos Sequence Context AA Info Type
rs1000099409 -- 218,625,129(+) AAAAA(A/G)AAAGA intron-variant
rs1000148666 -- 218,621,604(+) GGTGA(A/G)TCTGT intron-variant
rs1000203590 -- 218,616,227(+) ATAAG(G/T)CTGTT intron-variant
rs1000275132 -- 218,605,252(+) TTCTG(A/T)ACTCA upstream-variant-2KB
rs1000456869 -- 218,612,272(+) TGCAT(C/T)CCCAC intron-variant

Variation tolerance for PLCD4 Gene

Residual Variation Intolerance Score: 34.7% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 2.69; 46.22% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for PLCD4 Gene

Human Gene Mutation Database (HGMD)
PLCD4
SNPedia medical, phenotypic, and genealogical associations of SNPs for
PLCD4

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot and Structural Variations from Database of Genomic Variants (DGV) for PLCD4 Gene

Disorders for PLCD4 Gene

MalaCards: The human disease database

(1) MalaCards diseases for PLCD4 Gene - From: HGMD and DISEASES

Disorder Aliases PubMed IDs
obstructive hydrocephalus
- elite association - COSMIC cancer census association via MalaCards
Search PLCD4 in MalaCards View complete list of genes associated with diseases

Relevant External Links for PLCD4

Genetic Association Database (GAD)
PLCD4
Human Genome Epidemiology (HuGE) Navigator
PLCD4
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
PLCD4
genes like me logo Genes that share disorders with PLCD4: view

No data available for UniProtKB/Swiss-Prot and Genatlas for PLCD4 Gene

Publications for PLCD4 Gene

  1. Assignment of the human PLC delta4 gene (PLCD4) to human chromosome band 2q35 by fluorescence in situ hybridization. (PMID: 10702683) Kim H … Park SH (Cytogenetics and cell genetics 1999) 2 3 4 22 60
  2. Phospholipase C delta-4 overexpression upregulates ErbB1/2 expression, Erk signaling pathway, and proliferation in MCF-7 cells. (PMID: 15140260) Leung DW … Singer JW (Molecular cancer 2004) 3 4 22 60
  3. Polymorphisms in innate immunity genes and patients response to dendritic cell-based HIV immuno-treatment. (PMID: 20056178) Segat L … Crovella S (Vaccine 2010) 3 45 60
  4. 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 45 60
  5. Identification of new putative susceptibility genes for several psychiatric disorders by association analysis of regulatory and non-synonymous SNPs of 306 genes involved in neurotransmission and neurodevelopment. (PMID: 19086053) Gratacòs M … Psychiatric Genetics Network Group (American journal of medical genetics. Part B, Neuropsychiatric genetics : the official publication of the International Society of Psychiatric Genetics 2009) 3 45 60

Products for PLCD4 Gene

Sources for PLCD4 Gene

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