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

Aliases for PLD3 Gene

Aliases for PLD3 Gene

  • Phospholipase D Family Member 3 2 3 5
  • Phosphatidylcholine-Hydrolyzing Phospholipase D3 3 4
  • Choline Phosphatase 3 3 4
  • HindIII K4L Homolog 3 4
  • Phospholipase D3 2 3
  • EC 4 58
  • HU-K4 3 4
  • Phospholipase D Family, Member 3 2
  • EC 3.1.4 58
  • PLD 3 4
  • AD19 3
  • HUK4 3

External Ids for PLD3 Gene

Previous GeneCards Identifiers for PLD3 Gene

  • GC19P041505
  • GC19P041257
  • GC19P045530
  • GC19P045546
  • GC19P045557
  • GC19P040854
  • GC19P037290

Summaries for PLD3 Gene

Entrez Gene Summary for PLD3 Gene

  • This gene encodes a member of the phospholipase D (PLD) family of enzymes that catalyze the hydrolysis of membrane phospholipids. The encoded protein is a single-pass type II membrane protein and contains two PLD phosphodiesterase domains. This protein influences processing of amyloid-beta precursor protein. Mutations in this gene are associated with Alzheimer disease risk. Alternatively spliced transcript variants encoding the same protein have been found for this gene. [provided by RefSeq, Apr 2014]

GeneCards Summary for PLD3 Gene

PLD3 (Phospholipase D Family Member 3) is a Protein Coding gene. Diseases associated with PLD3 include Acute Conjunctivitis and Acute Hemorrhagic Conjunctivitis. Among its related pathways are Phospholipase-C Pathway and Metabolism. GO annotations related to this gene include phospholipase D activity and N-acylphosphatidylethanolamine-specific phospholipase D activity. An important paralog of this gene is PLD4.

UniProtKB/Swiss-Prot for PLD3 Gene

  • May be involved in APP processing.

Additional gene information for PLD3 Gene

No data available for CIViC summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for PLD3 Gene

Genomics for PLD3 Gene

Regulatory Elements for PLD3 Gene

Enhancers for PLD3 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
GH19H040347 1.2 ENCODE 13.9 +0.2 160 2.2 MLX ZFP64 FEZF1 DMAP1 YY1 SLC30A9 ZNF143 ZNF548 SP3 NFYC ZNF780B SNRPA HNRNPUL1 ENSG00000269843 CYP2G1P ZNF780A CCDC97 COQ8B NUMBL FBL
GH19H040219 1.6 FANTOM5 Ensembl ENCODE 9.9 -128.4 -128354 1.5 SIN3A ZNF2 GLIS2 FOS SP3 YY2 REST ZNF518A MAFF SMARCA4 ENSG00000269843 SNRPA FBL ITPKC RPS16 ZNF780A ZNF780B LGALS14 ENSG00000269792 LOC105372399
GH19H040441 1.4 ENCODE dbSUPER 10.9 +95.8 95824 5.4 MLX ZFP64 FEZF1 DMAP1 YY1 ZNF143 SP3 NFYC SSRP1 ZNF610 HNRNPUL1 SERTAD3 SNRPA ENSG00000269843 CYP2F2P CCDC97 FBL PSMC4 ZNF780B ENSG00000271299
GH19H040340 1.1 FANTOM5 Ensembl ENCODE 12.5 -6.2 -6221 3.3 ZNF121 ZNF747 ZNF341 FEZF1 ZEB1 PLD3 ENSG00000269843 SNRPA PSMC4 C19orf47 SERTAD3 ENSG00000207281 GC19P040343
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around PLD3 on UCSC Golden Path with GeneCards custom track

Promoters for PLD3 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000109511 75 1801 MLX ZFP64 FEZF1 DMAP1 YY1 SLC30A9 ZNF143 ZNF548 SP3 NFYC

Genomic Locations for PLD3 Gene

Genomic Locations for PLD3 Gene
32,015 bases
Plus strand

Genomic View for PLD3 Gene

Genes around PLD3 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
PLD3 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for PLD3 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for PLD3 Gene

Proteins for PLD3 Gene

  • Protein details for PLD3 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Recommended name:
    Phospholipase D3
    Protein Accession:
    Secondary Accessions:
    • Q92853
    • Q9BW87

    Protein attributes for PLD3 Gene

    490 amino acids
    Molecular mass:
    54705 Da
    Quaternary structure:
    • Interacts with APP.
    • Sequence=AAB16799.1; Type=Frameshift; Positions=52; Evidence={ECO:0000305};

neXtProt entry for PLD3 Gene

Selected DME Specific Peptides for PLD3 Gene


Post-translational modifications for PLD3 Gene

  • Glycosylated.
  • Ubiquitination at posLast=1111, posLast=157157, and posLast=309309
  • Glycosylation at posLast=9797, posLast=132132, Asn236, and Asn387
  • Modification sites at PhosphoSitePlus

Domains & Families for PLD3 Gene

Gene Families for PLD3 Gene

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

Protein Domains for PLD3 Gene

Graphical View of Domain Structure for InterPro Entry



  • Belongs to the phospholipase D family.
  • Belongs to the phospholipase D family.
genes like me logo Genes that share domains with PLD3: view

Function for PLD3 Gene

Molecular function for PLD3 Gene

UniProtKB/Swiss-Prot CatalyticActivity:
A phosphatidylcholine + H(2)O = choline + a phosphatidate.
UniProtKB/Swiss-Prot Function:
May be involved in APP processing.

Enzyme Numbers (IUBMB) for PLD3 Gene

Phenotypes From GWAS Catalog for PLD3 Gene

Gene Ontology (GO) - Molecular Function for PLD3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0004630 phospholipase D activity TAS,IEA --
GO:0005515 protein binding IPI 20195357
GO:0016787 hydrolase activity IEA --
GO:0070290 N-acylphosphatidylethanolamine-specific phospholipase D activity IEA --
genes like me logo Genes that share ontologies with PLD3: view
genes like me logo Genes that share phenotypes with PLD3: view

Animal Models for PLD3 Gene

MGI Knock Outs for PLD3:
  • Pld3 tm1e(EUCOMM)Wtsi

Animal Model Products

miRNA for PLD3 Gene

Inhibitory RNA Products

Clone Products

No data available for Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for PLD3 Gene

Localization for PLD3 Gene

Subcellular locations from UniProtKB/Swiss-Prot for PLD3 Gene

Endoplasmic reticulum membrane; Single-pass type II membrane protein.

Subcellular locations from

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 PLD3 gene
Compartment Confidence
extracellular 5
endoplasmic reticulum 4
plasma membrane 3
nucleus 2
cytosol 2

Gene Ontology (GO) - Cellular Components for PLD3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005783 endoplasmic reticulum IEA --
GO:0005789 endoplasmic reticulum membrane IEA --
GO:0016020 membrane IEA --
GO:0016021 integral component of membrane IEA --
GO:0070062 extracellular exosome IDA 19056867
genes like me logo Genes that share ontologies with PLD3: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for PLD3 Gene

Pathways & Interactions for PLD3 Gene

genes like me logo Genes that share pathways with PLD3: view

Gene Ontology (GO) - Biological Process for PLD3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006629 lipid metabolic process IEA --
GO:0016042 lipid catabolic process IEA --
genes like me logo Genes that share ontologies with PLD3: view

No data available for SIGNOR curated interactions for PLD3 Gene

Drugs & Compounds for PLD3 Gene

(3) Drugs for PLD3 Gene - From: HMDB

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Water Approved Pharma 0
Choline Approved Nutra 166
Ethanolamine Experimental Pharma 0

(8) Additional Compounds for PLD3 Gene - From: HMDB

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
  • (2-acetyloxy-3-octadec-9-enoxypropyl) 2-trimethylazaniumylethyl phosphate
  • 2-Acetyl-1-(9Z-octadecenyl)-sn-glycero-3-phosphocholine
  • PC(O-18:1(9Z)/2:0)
  • 2-Hexadecanoyl-1-(1Z-hexadecenyl)-sn-glycero-3-phosphoethanolamine
  • 1-(1-Enyl-palmitoyl)-2-vaccenoyl-sn-glycero-3-phosphoethanolamine
  • GPEtn(16:0/18:1)
  • GPEtn(16:0/18:1n7)
  • GPEtn(16:0/18:1w7)
  • GPEtn(34:1)
Phosphatidylcholines Group A
  • (Z,Z)-(1)-(7-Oleoyl-4-oxido-10-oxo-3,5,9-trioxa-4-phosphaheptacos-18-enyl)trimethylammonium 4-oxide
  • (Z,Z)-4-hydroxy-N,N,N-trimethyl-10-oxo-7-[(1-oxo-9-octadecenyl)oxy]-3,5,9-Trioxa-4-phosphaheptacos-18-en-1-aminium 4-oxide hydroxide inner salt
  • 1,2-Dioleoyl-rac-glycero-3-phosphocholine
  • 1,2-Dioleoylglycerol-3-phosphorylcholine
  • 1,2-Dioleoylglyceryl-3-phosphorylcholine
Phosphatidylcholines Group B
  • 1-(1-Enyl-palmitoyl)-2-a-linolenoyl-sn-glycero-3-phosphocholine
  • 1-(1-Enyl-palmitoyl)-2-alpha-linolenoyl-sn-glycero-3-phosphocholine
  • GPCho(16:0/18:3)
  • GPCho(16:0/18:3n3)
  • GPCho(16:0/18:3w3)
genes like me logo Genes that share compounds with PLD3: view

Transcripts for PLD3 Gene

Unigene Clusters for PLD3 Gene

Phospholipase D family, member 3:
Representative Sequences:

Inhibitory RNA Products

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for PLD3 Gene

ExUns: 1a · 1b · 1c ^ 2 ^ 3 ^ 4a · 4b · 4c · 4d · 4e ^ 5 ^ 6a · 6b ^ 7 ^ 8a · 8b ^ 9a · 9b · 9c ^ 10a · 10b ^ 11a · 11b ^ 12 ^ 13a · 13b ^
SP1: - - - - -
SP2: - - - - - - - -
SP3: - - - - - - - - - -
SP4: - - - - - - -
SP5: - - - - - - - -
SP6: - - - - - - - - -
SP7: - -
SP8: - -
SP10: - - - -
SP11: - - -
SP12: - -
SP13: - -
SP14: - - - -
SP16: -
SP17: - - -

ExUns: 14a · 14b ^ 15a · 15b · 15c ^ 16 ^ 17 ^ 18a · 18b · 18c
SP1: -
SP2: -
SP4: - -
SP9: -

Relevant External Links for PLD3 Gene

GeneLoc Exon Structure for
ECgene alternative splicing isoforms for

Expression for PLD3 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for PLD3 Gene

Protein differential expression in normal tissues from HIPED for PLD3 Gene

This gene is overexpressed in Amniocyte (16.3) and Adrenal (6.8).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for PLD3 Gene

Protein tissue co-expression partners for PLD3 Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of PLD3 Gene:


SOURCE GeneReport for Unigene cluster for PLD3 Gene:


mRNA Expression by UniProt/SwissProt for PLD3 Gene:

Tissue specificity: Widely expressed. In the brain, high levels of expression are detected in the frontal, temporal and occipital cortices and hippocampus. Expressed at low level in corpus callosum.

Evidence on tissue expression from TISSUES for PLD3 Gene

  • Nervous system(5)
  • Lung(4.8)
  • Liver(4.6)
  • Intestine(4.5)
  • Eye(3.4)
  • Pancreas(3.3)
  • Stomach(2.3)
  • Adrenal gland(2)
  • Muscle(2)
  • Skin(2)
  • Spleen(2)
genes like me logo Genes that share expression patterns with PLD3: view

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues and Phenotype-based relationships between genes and organs from Gene ORGANizer for PLD3 Gene

Orthologs for PLD3 Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for PLD3 Gene

Organism Taxonomy Gene Similarity Type Details
(Pan troglodytes)
Mammalia PLD3 34 33
  • 99.7 (n)
(Canis familiaris)
Mammalia PLD3 33 34
  • 93.61 (n)
(Bos Taurus)
Mammalia PLD3 33 34
  • 91.97 (n)
(Rattus norvegicus)
Mammalia Pld3 33
  • 88.32 (n)
(Mus musculus)
Mammalia Pld3 16 34 33
  • 88.18 (n)
(Monodelphis domestica)
Mammalia PLD3 34
  • 70 (a)
(Ornithorhynchus anatinus)
Mammalia PLD3 34
  • 54 (a)
(Gallus gallus)
Aves PLD3 34
  • 44 (a)
(Anolis carolinensis)
Reptilia PLD3 34
  • 53 (a)
tropical clawed frog
(Silurana tropicalis)
Amphibia pld3 33
  • 57.63 (n)
African clawed frog
(Xenopus laevis)
Amphibia MGC68676 33
(Danio rerio)
Actinopterygii pld3 33 34
  • 63.72 (n)
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP000199 33
  • 57.48 (n)
fruit fly
(Drosophila melanogaster)
Insecta CG9248 33 34
  • 54.62 (n)
CG43345 34
  • 37 (a)
(Caenorhabditis elegans)
Secernentea F09G2.8 33 34
  • 47.28 (n)
(Oryza sativa)
Liliopsida Os06g0649900 33
  • 41.56 (n)
Species where no ortholog for PLD3 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • 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)
  • 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 blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • 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 PLD3 Gene

Gene Tree for PLD3 (if available)
Gene Tree for PLD3 (if available)

Paralogs for PLD3 Gene

Paralogs for PLD3 Gene

genes like me logo Genes that share paralogs with PLD3: view

Variants for PLD3 Gene

Sequence variations from dbSNP and Humsavar for PLD3 Gene

SNP ID Clin Chr 19 pos Sequence Context AA Info Type
rs145999145 Uncertain significance 40,371,688(+) TGGGC(A/G)TGGTC reference, missense
rs1000300232 -- 40,362,497(+) GTGGT(A/G)CGATC intron-variant
rs1000355452 -- 40,352,100(+) AACCT(C/T)ATCTC intron-variant
rs1000394675 -- 40,356,117(+) AGCAA(A/G)GTGTG intron-variant
rs1000409623 -- 40,351,896(+) AGGCA(C/G)CCTTA intron-variant

Structural Variations from Database of Genomic Variants (DGV) for PLD3 Gene

Variant ID Type Subtype PubMed ID
nsv833831 CNV loss 17160897
nsv476934 CNV novel sequence insertion 20440878
esv3644346 CNV loss 21293372
esv2665673 CNV deletion 23128226
esv1638921 CNV insertion 17803354

Variation tolerance for PLD3 Gene

Residual Variation Intolerance Score: 33% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 1.39; 27.41% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for PLD3 Gene

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

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for PLD3 Gene

Disorders for PLD3 Gene

MalaCards: The human disease database

(7) MalaCards diseases for PLD3 Gene - From: HGMD, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
acute conjunctivitis
acute hemorrhagic conjunctivitis
  • apollo disease
conjunctival folliculosis
  • acute follicular conjunctivitis
shipyard eye
  • ekc
conjunctival disease
  • conjunctival diseases
- elite association - COSMIC cancer census association via MalaCards
Search PLD3 in MalaCards View complete list of genes associated with diseases


  • Note=Genetic variants in PLD3 have been suggested to be associated with an increased risk for Alzheimer disease (PubMed:24336208, PubMed:25832409). Further studies, however, did not support PLD3 involvement in this disease (PubMed:25832408, PubMed:25832411, PubMed:25832413, PubMed:25832410, PubMed:26411346). {ECO:0000269 PubMed:24336208, ECO:0000269 PubMed:25832408, ECO:0000269 PubMed:25832409, ECO:0000269 PubMed:25832410, ECO:0000269 PubMed:25832411, ECO:0000269 PubMed:25832413, ECO:0000269 PubMed:26411346}.

Relevant External Links for PLD3

Genetic Association Database (GAD)
Human Genome Epidemiology (HuGE) Navigator
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
genes like me logo Genes that share disorders with PLD3: view

No data available for Genatlas for PLD3 Gene

Publications for PLD3 Gene

  1. Hu-K4 is a ubiquitously expressed type 2 transmembrane protein associated with the endoplasmic reticulum. (PMID: 15794758) Munck A … Hampe W (The FEBS journal 2005) 2 3 4 22 60
  2. A human homolog of the vaccinia virus HindIII K4L gene is a member of the phospholipase D superfamily. (PMID: 9140189) Cao JX … Upton C (Virus research 1997) 2 3 4 60
  3. Rare Variants in PLD3 Do Not Affect Risk for Early-Onset Alzheimer Disease in a European Consortium Cohort. (PMID: 26411346) Cacace R … Belgium Neurology (BELNEU) Consortium and the European Early-Onset Dementia (EU EOD) Consortium (Human mutation 2015) 3 4 60
  4. Rare coding variants in the phospholipase D3 gene confer risk for Alzheimer's disease. (PMID: 24336208) Cruchaga C … Goate AM (Nature 2014) 3 4 60
  5. [Over-expression of phospholipase D3 inhibits Akt phosphorylation in C2C12 myoblasts]. (PMID: 20112697) Zhang J … Wang H (Sheng wu gong cheng xue bao = Chinese journal of biotechnology 2009) 3 22 60

Products for PLD3 Gene