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. Alt... See more...

Aliases for PLD3 Gene

Aliases for PLD3 Gene

  • Phospholipase D Family Member 3 2 3 5
  • Phosphatidylcholine-Hydrolyzing Phospholipase D3 3 4
  • 5'-3' Exonuclease PLD3 3 4
  • Choline Phosphatase 3 3 4
  • HindIII K4L Homolog 3 4
  • Phospholipase D3 2 4
  • HU-K4 2 3
  • Phospholipase D Family, Member 3 2
  • EC 3.1.16.1 4
  • EC 3.1.4.4 51
  • EC 3.1.4 51
  • SCA46 3
  • Hu-K4 4
  • PLD 3 4
  • AD19 3
  • HUK4 3
  • PLD3 5

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 Spinocerebellar Ataxia 46 and Alzheimer Disease 19. Among its related pathways are Sweet Taste Signaling and Acyl chain remodelling of PE. Gene Ontology (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 Summary for PLD3 Gene

  • 5'->3' DNA exonuclease which digests single-stranded DNA (ssDNA) (PubMed:30312375). Regulates inflammatory cytokine responses via the degradation of nucleic acids, by reducing the concentration of ssDNA able to stimulate TLR9, a nucleotide-sensing receptor in collaboration with PLD4 (By similarity). May be important in myotube formation (PubMed:22428023). Plays a role in lysosomal homeostasis (PubMed:28128235). Involved in the regulation of endosomal protein sorting (PubMed:29368044).

No data available for CIViC Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for PLD3 Gene

Genomics for PLD3 Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for PLD3 Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around PLD3 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for PLD3

Top Transcription factor binding sites by QIAGEN in the PLD3 gene promoter:
  • AREB6
  • c-Myc
  • CBF(2)
  • CBF-A
  • CBF-B
  • CBF-C
  • CP1A
  • CP2
  • Max1
  • Pax-5

Genomic Locations for PLD3 Gene

Genomic Locations for PLD3 Gene
chr19:40,348,395-40,380,439
(GRCh38/hg38)
Size:
32,045 bases
Orientation:
Plus strand
chr19:40,854,332-40,886,346
(GRCh37/hg19)
Size:
32,015 bases
Orientation:
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:
    Q8IV08-PLD3_HUMAN
    Recommended name:
    5'-3' exonuclease PLD3
    Protein Accession:
    Q8IV08
    Secondary Accessions:
    • Q92853
    • Q9BW87

    Protein attributes for PLD3 Gene

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

neXtProt entry for PLD3 Gene

Selected DME Specific Peptides for PLD3 Gene

Q8IV08:
  • DTRYNQETPMEICLNGTPALAYLASAPPPLCP
  • YNCSCLA
  • DNHTHSDIQVKLFVVP
  • DIASFYW
  • YIGTSNWSG
  • LHTKFWVVD
  • VRLLISCW
  • KIFEAYW
  • GRTPDLKALL
  • IPYARVNHNKYMVT
  • GSANMDW
  • LARDLTK
  • SAQQGEEVLRQLQTLAP
  • ELPMNEIEAWKAAEKKARWVLLVLILAVVGFGALMTQLFL
  • LVESIPE

Post-translational modifications for PLD3 Gene

  • N-glycosylated.
  • Proteolytically processed to a soluble form that is stable within endosomes and lysosomes. During transport through the secretory pathway becomes proteolysed by cysteine proteases, thereby releasing a stable soluble lysosomal lumenal polypeptide, whereas the transmembrane-bound fragment is rapidly degraded. Its transport route to lysosomes involves ubiquitination and the ESCRT complex.
  • Ubiquitinated at N-terminus. Ubiquitination mediates sorting into lysosomes.
  • Glycosylation at Asn97, Asn132, Asn236, Asn284, and Asn387
  • Ubiquitination at Lys11, Lys157, and Lys309
  • Modification sites at PhosphoSitePlus
  • Glycosylation from GlyConnect

Antibody Products

  • Abcam antibodies for PLD3
  • Boster Bio Antibodies for PLD3

Domains & Families for PLD3 Gene

Gene Families for PLD3 Gene

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

Protein Domains for PLD3 Gene

InterPro:
Blocks:
  • Phospholipase D/viral envelope
ProtoNet:

Suggested Antigen Peptide Sequences for PLD3 Gene

GenScript: Design optimal peptide antigens:
  • cDNA FLJ59669, highly similar to Homo sapiens phospholipase D family, member 3 (PLD3), transcript variant 1, mRNA (B4DEL6_HUMAN)
  • Phosphatidylcholine-hydrolyzing phospholipase D3 (PLD3_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q8IV08

UniProtKB/Swiss-Prot:

PLD3_HUMAN :
  • Belongs to the phospholipase D family.
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 Function:
5'->3' DNA exonuclease which digests single-stranded DNA (ssDNA) (PubMed:30312375). Regulates inflammatory cytokine responses via the degradation of nucleic acids, by reducing the concentration of ssDNA able to stimulate TLR9, a nucleotide-sensing receptor in collaboration with PLD4 (By similarity). May be important in myotube formation (PubMed:22428023). Plays a role in lysosomal homeostasis (PubMed:28128235). Involved in the regulation of endosomal protein sorting (PubMed:29368044).
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=Exonucleolytic cleavage in the 5'- to 3'-direction to yield nucleoside 3'-phosphates.; EC=3.1.16.1; Evidence={ECO:0000269|PubMed:30312375};.

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:0003824 catalytic activity IEA --
GO:0004518 nuclease activity IEA --
GO:0004527 exonuclease activity IEA --
GO:0004630 phospholipase D activity TAS 9140189
GO:0005515 protein binding IPI 20195357
genes like me logo Genes that share ontologies with PLD3: view
genes like me logo Genes that share phenotypes with PLD3: view

Human Phenotype Ontology for PLD3 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for PLD3 Gene

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

Animal Model Products

CRISPR Products

miRNA for PLD3 Gene

miRTarBase miRNAs that target PLD3

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for PLD3

No data available for 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. Lysosome lumen. Early endosome membrane. Single-pass type II membrane protein. Late endosome membrane. Single-pass type II membrane protein. Golgi apparatus membrane. Single-pass type II membrane protein. Endosome membrane. Single-pass type II membrane protein. Note=Localizes to ER-associated vesicles in differentiating myotubes (PubMed:22428023). The soluble form in lysosome arises by proteolytic processing of the membrane-bound form (PubMed:29386126). Colocalizes with APP in endosomes (PubMed:29368044). {ECO:0000269 PubMed:22428023, ECO:0000269 PubMed:29368044, ECO:0000269 PubMed:29386126}.

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 PLD3 gene
Compartment Confidence
endoplasmic reticulum 5
endosome 5
lysosome 5
golgi apparatus 5
extracellular 4
plasma membrane 3
nucleus 2
cytosol 2
cytoskeleton 1
mitochondrion 1
peroxisome 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Endoplasmic reticulum (3)
  • Cytosol (2)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for PLD3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000139 Golgi membrane IEA,IDA 29368044
GO:0005764 lysosome IEA --
GO:0005765 lysosomal membrane IEA --
GO:0005768 endosome IEA --
GO:0005783 endoplasmic reticulum IEA --
genes like me logo Genes that share ontologies with PLD3: view

Pathways & Interactions for PLD3 Gene

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

Pathways by source for PLD3 Gene

8 Qiagen pathways for PLD3 Gene
  • Antioxidant Action of Vitamin-C
  • Endothelin-1 Signaling Pathway
  • FGF Pathway
  • G-AlphaQ Signaling
  • mTOR Pathway

SIGNOR curated interactions for PLD3 Gene

Activates:

Gene Ontology (GO) - Biological Process for PLD3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0002376 immune system process IEA --
GO:0006259 DNA metabolic process IEA --
GO:0006954 inflammatory response IEA --
GO:0014902 myotube differentiation IDA 22428023
GO:0090305 nucleic acid phosphodiester bond hydrolysis IEA --
genes like me logo Genes that share ontologies with PLD3: view

Drugs & Compounds for PLD3 Gene

(4) Drugs for PLD3 Gene - From: HMDB

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Water Approved Pharma 0
Choline Approved Nutra 223
Ethanolamine Experimental Pharma 0
PE(16:0/16:0) Experimental Pharma 0

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

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
PC(18:1(9Z)e/2:0)
  • (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)
PE(P-16:0e/16:0)
  • 1-(Hexadec-1-enyl)-2-palmitoyl-sn-glycero-3-phosphoethanolamine zwitterion
  • 1-[(1Z)-Hexadec-1-enyl]-2-hexadecanoyl-sn-glycero-3-phosphoethanolamine zwitterion
  • 1-[(1Z)-Hexadec-1-enyl]-2-palmitoyl-sn-glycero-3-phosphoethanolamine zwitterion
  • PE(P-16:0/16:0)
  • 2-Hexadecanoyl-1-(1Z-hexadecenyl)-sn-glycero-3-phosphoethanolamine
PEP-16:0/18:1(11Z))
  • 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
68737-67-7
Phosphatidylcholines Group B
  • 1-Hexadecyl-2-(9Z,12Z-octadecadienoyl)-sn-glycero-3-phosphocholine
  • 2-(9Z,12Z-Octadecadienoyl)-1-hexadecyl-sn-glycero-3-phosphocholine
  • PC Ae C34:2
  • PC(16:0E/18:2(9Z,12Z))
  • PC(O-34:2)
88542-95-4
genes like me logo Genes that share compounds with PLD3: view

Transcripts for PLD3 Gene

mRNA/cDNA for PLD3 Gene

3 REFSEQ mRNAs :
11 NCBI additional mRNA sequence :
24 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 PLD3

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: - -
SP9:
SP10: - - - -
SP11: - - -
SP12: - -
SP13: - -
SP14: - - - -
SP15:
SP16: -
SP17: - - -

ExUns: 14a · 14b ^ 15a · 15b · 15c ^ 16 ^ 17 ^ 18a · 18b · 18c
SP1: -
SP2: -
SP3:
SP4: - -
SP5:
SP6:
SP7:
SP8:
SP9: -
SP10:
SP11:
SP12:
SP13:
SP14:
SP15:
SP16:
SP17:

Relevant External Links for PLD3 Gene

GeneLoc Exon Structure for
PLD3

Expression for PLD3 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and 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, MaxQB, and MOPED for PLD3 Gene



Protein tissue co-expression partners for PLD3 Gene

- Elite partner

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for PLD3

SOURCE GeneReport for Unigene cluster for PLD3 Gene:

Hs.257008

mRNA Expression by UniProt/SwissProt for PLD3 Gene:

Q8IV08-PLD3_HUMAN
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(4.7)
  • Intestine(4.6)
  • Pancreas(3.6)
  • Eye(3.4)
  • Skin(2.9)
  • Kidney(2.6)
  • Blood(2.6)
  • Spleen(2.6)
  • Muscle(2.6)
  • Lymph node(2.4)
  • Heart(2.4)
  • Adrenal gland(2.3)
  • Stomach(2.3)
  • Bone(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
Chimpanzee
(Pan troglodytes)
Mammalia PLD3 30 31
  • 99.7 (n)
OneToOne
Dog
(Canis familiaris)
Mammalia PLD3 30 31
  • 93.61 (n)
OneToOne
Cow
(Bos Taurus)
Mammalia PLD3 30 31
  • 91.97 (n)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Pld3 30
  • 88.32 (n)
Mouse
(Mus musculus)
Mammalia Pld3 30 17 31
  • 88.18 (n)
OneToOne
Oppossum
(Monodelphis domestica)
Mammalia PLD3 31
  • 70 (a)
OneToOne
Platypus
(Ornithorhynchus anatinus)
Mammalia PLD3 31
  • 54 (a)
OneToOne
Chicken
(Gallus gallus)
Aves PLD3 31
  • 44 (a)
OneToOne
Lizard
(Anolis carolinensis)
Reptilia PLD3 31
  • 53 (a)
OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia pld3 30
  • 57.63 (n)
African clawed frog
(Xenopus laevis)
Amphibia MGC68676 30
Zebrafish
(Danio rerio)
Actinopterygii pld3 30 31
  • 63.72 (n)
OneToOne
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP000199 30
  • 57.48 (n)
Fruit Fly
(Drosophila melanogaster)
Insecta CG9248 30 31
  • 54.62 (n)
ManyToMany
CG43345 31
  • 37 (a)
ManyToMany
Worm
(Caenorhabditis elegans)
Secernentea F09G2.8 30 31
  • 47.28 (n)
ManyToMany
Rice
(Oryza sativa)
Liliopsida Os06g0649900 30
  • 41.56 (n)
Species where no ortholog for PLD3 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium 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 Vase (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

ENSEMBL:
Gene Tree for PLD3 (if available)
TreeFam:
Gene Tree for PLD3 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for PLD3: view image

Paralogs for PLD3 Gene

Paralogs for PLD3 Gene

(2) SIMAP similar genes for PLD3 Gene using alignment to 13 proteins:

  • PLD3_HUMAN
  • E2QRD3_HUMAN
  • E2QRG1_HUMAN
  • M0QX50_HUMAN
  • M0QX99_HUMAN
  • M0QY94_HUMAN
  • M0QYJ4_HUMAN
  • M0QZI4_HUMAN
  • M0QZK2_HUMAN
  • M0R1F7_HUMAN
  • M0R2E7_HUMAN
  • M0R2W7_HUMAN
  • M0R3G9_HUMAN
genes like me logo Genes that share paralogs with PLD3: view

Variants for PLD3 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for PLD3 Gene

SNP ID Clinical significance and condition Chr 19 pos Variation AA Info Type
637402 Pathogenic/Likely Pathogenic: Charcot-Marie-Tooth disease; SPINOCEREBELLAR ATAXIA 46; not provided 40,395,153(+) CA/C FRAMESHIFT_VARIANT,THREE_PRIME_UTR_VARIANT
777476 Benign: not provided 40,376,651(+) C/T SYNONYMOUS_VARIANT
789668 Benign: not provided 40,376,681(+) C/T SYNONYMOUS_VARIANT
803558 Pathogenic: SPINOCEREBELLAR ATAXIA 46 40,394,764(+) TC/T FRAMESHIFT_VARIANT,THREE_PRIME_UTR_VARIANT
803559 Pathogenic: SPINOCEREBELLAR ATAXIA 46 40,394,973(+) T/A NONSENSE,THREE_PRIME_UTR_VARIANT

Additional dbSNP identifiers (rs#s) for PLD3 Gene

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

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

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)

Additional Variant Information for PLD3 Gene

Human Gene Mutation Database (HGMD)
PLD3
SNPedia medical, phenotypic, and genealogical associations of SNPs for
PLD3

SNP Genotyping and Copy Number Assay Products

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

Disorders for PLD3 Gene

MalaCards: The human disease database

(19) MalaCards diseases for PLD3 Gene - From: OMIM, ClinVar, GTR, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
spinocerebellar ataxia 46
  • sca46
alzheimer disease 19
  • ad19
conjunctival folliculosis
  • acute follicular conjunctivitis
acute hemorrhagic conjunctivitis
  • apollo disease
shipyard eye
  • ekc
- elite association - COSMIC cancer census association via MalaCards
Search PLD3 in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

PLD3_HUMAN
  • Spinocerebellar ataxia 46 (SCA46) [MIM:617770]: A form of spinocerebellar ataxia, a clinically and genetically heterogeneous group of cerebellar disorders. Patients show progressive incoordination of gait and often poor coordination of hands, speech and eye movements, due to degeneration of the cerebellum with variable involvement of the brainstem and spinal cord. SCA46 is a slowly progressive, autosomal dominant form with onset in adulthood. {ECO:0000269 PubMed:29053796, ECO:0000269 PubMed:30312375}. Note=The disease may be caused by mutations affecting the gene represented in this entry. There is limited evidences for implication of PLD3 in SCA46. Knockout mice do not present signs of cerebellar degeneration or spinocerebellar ataxia at 9 months of age, challenging the interpretation of the suggested loss-of-function mechanism for PLD3 as the SCA46-causative gene. {ECO:0000269 PubMed:30312375}.
  • 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). Futhermore, it is controversial whether PLD3 plays a role in amyloid precursor protein processing (APP) or not (PubMed:24336208). In a relevant Alzheimer's disease mouse model PLD3 deficiency does not affect APP metabolism or amyloid plaque burden (PubMed:28128235). However one study shown that PLD3 influences APP processing (PubMed:24336208). {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, ECO:0000269 PubMed:28128235}.

Additional Disease Information for PLD3

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 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 23
  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
  3. Unconventional Trafficking of Mammalian Phospholipase D3 to Lysosomes. (PMID: 29386126) Gonzalez AC … Damme M (Cell reports 2018) 3 4
  4. Analysis of novel endosome-to-Golgi retrieval genes reveals a role for PLD3 in regulating endosomal protein sorting and amyloid precursor protein processing. (PMID: 29368044) Mukadam AS … Seaman MNJ (Cellular and molecular life sciences : CMLS 2018) 3 4
  5. PLD3 and spinocerebellar ataxia. (PMID: 30312375) Gonzalez AC … Damme M (Brain : a journal of neurology 2018) 3 4

Products for PLD3 Gene