The protein encoded by this gene is an enzyme that synthesizes the prenyl side-chain of coenzyme Q, or ubiquinone, one of the key elements in the respiratory chain. The gene product catalyzes the formation of all trans-polyprenyl pyrophosphates from isopentyl diphosphate in the assembly of polyisoprenoid side chains, the first step in coenzyme Q biosynthesis. Defects in this ge... See more...

Aliases for PDSS2 Gene

Aliases for PDSS2 Gene

  • Decaprenyl Diphosphate Synthase Subunit 2 2 3 5
  • Prenyl (Decaprenyl) Diphosphate Synthase, Subunit 2 2 3
  • All-Trans-Decaprenyl-Diphosphate Synthase Subunit 2 3 4
  • Decaprenyl Pyrophosphate Synthase Subunit 2 3 4
  • Decaprenyl-Diphosphate Synthase Subunit 2 3 4
  • C6orf210 3 4
  • BA59I9.3 2 3
  • COQ1B 2 3
  • DLP1 3 4
  • Decaprenyl Pyrophosphate Synthetase Subunit 2 3
  • Subunit 2 Of Decaprenyl Diphosphate Synthase 3
  • Chromosome 6 Open Reading Frame 210 2
  • Candidate Tumor Suppressor Protein 4
  • EC 4
  • COQ10D3 3
  • HDLP1 3
  • PDSS2 5

External Ids for PDSS2 Gene

Previous HGNC Symbols for PDSS2 Gene

  • C6orf210

Previous GeneCards Identifiers for PDSS2 Gene

  • GC06M107581
  • GC06M107473
  • GC06M105044

Summaries for PDSS2 Gene

Entrez Gene Summary for PDSS2 Gene

  • The protein encoded by this gene is an enzyme that synthesizes the prenyl side-chain of coenzyme Q, or ubiquinone, one of the key elements in the respiratory chain. The gene product catalyzes the formation of all trans-polyprenyl pyrophosphates from isopentyl diphosphate in the assembly of polyisoprenoid side chains, the first step in coenzyme Q biosynthesis. Defects in this gene are a cause of coenzyme Q10 deficiency.[provided by RefSeq, Oct 2009]

GeneCards Summary for PDSS2 Gene

PDSS2 (Decaprenyl Diphosphate Synthase Subunit 2) is a Protein Coding gene. Diseases associated with PDSS2 include Coenzyme Q10 Deficiency, Primary, 3 and Leigh Syndrome With Nephrotic Syndrome. Among its related pathways are Metabolism and Terpenoid backbone biosynthesis. Gene Ontology (GO) annotations related to this gene include protein heterodimerization activity and trans-octaprenyltranstransferase activity. An important paralog of this gene is PDSS1.

UniProtKB/Swiss-Prot Summary for PDSS2 Gene

  • Supplies decaprenyl diphosphate, the precursor for the side chain of the isoprenoid quinones ubiquinone-10.

Gene Wiki entry for PDSS2 Gene

No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for PDSS2 Gene

Genomics for PDSS2 Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for PDSS2 Gene
GeneHancer (GH) Identifier GH Type GH
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH06J107458 Promoter/Enhancer 2.1 EPDnew Ensembl ENCODE CraniofacialAtlas 600.7 +0.1 81 3.2 ZNF221 SP1 HNRNPL GATAD2A CTCF TEAD4 PRDM10 ZNF629 REST RFX1 PDSS2 lnc-SOBP-3 piR-46326 SOBP BEND3
GH06J107488 Promoter/Enhancer 2.3 EPDnew Ensembl ENCODE CraniofacialAtlas dbSUPER 10.7 -32.6 -32565 8.1 HNRNPL GATAD2A PRDM10 ZNF629 SOX13 ZNF692 RCOR2 ZHX2 PRDM1 ZIC2 SOBP PDSS2 RF00017-5714 SCML4
GH06J107220 Enhancer 0.8 Ensembl ENCODE 8.4 +238.2 238163 1.3 IKZF2 SP1 FOXA2 USF1 YY1 ZBTB33 JUND NR2F2 NR2F1 HNF4A PDSS2 lnc-BEND3-1 RF00017-5711 RF00017-5707 BEND3 RF00017-5704
GH06J107337 Enhancer 0.6 Ensembl 10.6 +122.5 122480 1.6 DPF2 SOX13 NFE2 ZNF316 MAFG MAFK KDM1A SMARCE1 MAFF ZNF133 PDSS2 SOBP FJ601684-409 piR-42172-005 RF00017-5704 BEND3
GH06J107409 Enhancer 0.4 Ensembl 16.6 +49.6 49580 1 SCRT2 SCRT1 SPI1 PDSS2 RF00017-5704 piR-46424 BEND3
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around PDSS2 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for PDSS2

Top Transcription factor binding sites by QIAGEN in the PDSS2 gene promoter:
  • AML1a
  • AREB6
  • ARP-1
  • Egr-1
  • Egr-2
  • MEF-2A
  • NF-kappaB
  • NF-kappaB1
  • S8
  • TBP

Genomic Locations for PDSS2 Gene

Genomic Locations for PDSS2 Gene
307,125 bases
Minus strand
307,019 bases
Minus strand

Genomic View for PDSS2 Gene

Genes around PDSS2 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
PDSS2 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for PDSS2 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for PDSS2 Gene

Proteins for PDSS2 Gene

  • Protein details for PDSS2 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Recommended name:
    Decaprenyl-diphosphate synthase subunit 2
    Protein Accession:
    Secondary Accessions:
    • Q33DR4
    • Q4G158
    • Q5VU38
    • Q5VU39
    • Q9NR58

    Protein attributes for PDSS2 Gene

    399 amino acids
    Molecular mass:
    44129 Da
    Quaternary structure:
    • Heterotetramer of 2 DPS1/TPRT and 2 DLP1 subunits.
    • Sequence=AAH29491.1; Type=Frameshift; Evidence={ECO:0000305};

    Alternative splice isoforms for PDSS2 Gene


neXtProt entry for PDSS2 Gene

Post-translational modifications for PDSS2 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

No data available for DME Specific Peptides for PDSS2 Gene

Domains & Families for PDSS2 Gene

Gene Families for PDSS2 Gene

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

Protein Domains for PDSS2 Gene

Suggested Antigen Peptide Sequences for PDSS2 Gene

GenScript: Design optimal peptide antigens:
  • cDNA FLJ56514, highly similar to Decaprenyl-diphosphate synthase subunit 2 (EC 2.5.1.-) (B4DKU5_HUMAN)
  • Decaprenyl pyrophosphate synthase subunit 2 (DLP1_HUMAN)
  • Prenyl (Decaprenyl) diphosphate synthase, subunit 2 (Q5JRD6_HUMAN)

Graphical View of Domain Structure for InterPro Entry



  • Belongs to the FPP/GGPP synthase family.
  • Belongs to the FPP/GGPP synthase family.
genes like me logo Genes that share domains with PDSS2: view

Function for PDSS2 Gene

Molecular function for PDSS2 Gene

UniProtKB/Swiss-Prot Function:
Supplies decaprenyl diphosphate, the precursor for the side chain of the isoprenoid quinones ubiquinone-10.
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=(2E,6E)-farnesyl diphosphate + 7 isopentenyl diphosphate = all-trans-decaprenyl diphosphate + 7 diphosphate; Xref=Rhea:RHEA:27802, ChEBI:CHEBI:33019, ChEBI:CHEBI:60721, ChEBI:CHEBI:128769, ChEBI:CHEBI:175763; EC=; Evidence={ECO:0000269|PubMed:16262699};.

Enzyme Numbers (IUBMB) for PDSS2 Gene

Phenotypes From GWAS Catalog for PDSS2 Gene

Gene Ontology (GO) - Molecular Function for PDSS2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000010 contributes_to trans-hexaprenyltranstransferase activity IDA 16262699
GO:0004659 prenyltransferase activity IBA 21873635
GO:0005515 protein binding IPI 16262699
GO:0016740 transferase activity IEA --
GO:0046982 protein heterodimerization activity IEA --
genes like me logo Genes that share ontologies with PDSS2: view
genes like me logo Genes that share phenotypes with PDSS2: view

Human Phenotype Ontology for PDSS2 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for PDSS2 Gene

MGI Knock Outs for PDSS2:
  • Pdss2 Pdss2<tm1.2Jdhu>
  • Pdss2 Pdss2<tm1.1Dalg>
  • Pdss2 Pdss2<tm1b(EUCOMM)Hmgu>

Animal Model Products

CRISPR Products

miRNA for PDSS2 Gene

miRTarBase miRNAs that target PDSS2

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for PDSS2

No data available for Transcription Factor Targets and HOMER Transcription for PDSS2 Gene

Localization for PDSS2 Gene

Subcellular locations from UniProtKB/Swiss-Prot for PDSS2 Gene


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 PDSS2 gene
Compartment Confidence
mitochondrion 5
cytosol 5
peroxisome 2
plasma membrane 1
extracellular 1
cytoskeleton 1
nucleus 1
endoplasmic reticulum 1
lysosome 1

Subcellular locations from the

Human Protein Atlas (HPA)

Gene Ontology (GO) - Cellular Components for PDSS2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005739 mitochondrion IEA --
GO:0005759 mitochondrial matrix TAS --
GO:0005829 cytosol IDA --
GO:1990234 transferase complex IDA 16262699
genes like me logo Genes that share ontologies with PDSS2: view

Pathways & Interactions for PDSS2 Gene

genes like me logo Genes that share pathways with PDSS2: view

Pathways by source for PDSS2 Gene

1 BioSystems pathway for PDSS2 Gene
1 KEGG pathway for PDSS2 Gene

UniProtKB/Swiss-Prot Q86YH6-DLP1_HUMAN

  • Pathway: Cofactor biosynthesis; ubiquinone biosynthesis.

Gene Ontology (GO) - Biological Process for PDSS2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006744 ubiquinone biosynthetic process TAS --
GO:0008299 isoprenoid biosynthetic process IDA 16262699
GO:0050878 regulation of body fluid levels IEA --
genes like me logo Genes that share ontologies with PDSS2: view

No data available for SIGNOR curated interactions for PDSS2 Gene

Drugs & Compounds for PDSS2 Gene

(3) Drugs for PDSS2 Gene - From: HMDB and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
farnesyl diphosphate Experimental Pharma Antagonist, Agonist 0
Isopentenyl pyrophosphate Experimental Pharma 0

(2) Additional Compounds for PDSS2 Gene - From: HMDB

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
all-trans-Decaprenyl diphosphate
  • [(ho)2P(O)OP(O)(OH)2]
  • Acide diphosphorique
  • Diphosphorsaeure
  • H4P2O7
  • PYROphosphATE
genes like me logo Genes that share compounds with PDSS2: view

Transcripts for PDSS2 Gene

mRNA/cDNA for PDSS2 Gene

13 NCBI additional mRNA sequence :
3 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 PDSS2

Alternative Splicing Database (ASD) splice patterns (SP) for PDSS2 Gene

No ASD Table

Relevant External Links for PDSS2 Gene

GeneLoc Exon Structure for

Expression for PDSS2 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for PDSS2 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for PDSS2 Gene

This gene is overexpressed in Bone (52.8) and NK cells (7.5).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for PDSS2 Gene

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for PDSS2

SOURCE GeneReport for Unigene cluster for PDSS2 Gene:


Evidence on tissue expression from TISSUES for PDSS2 Gene

  • Nervous system(3.3)
  • Kidney(2.6)
  • Muscle(2.5)
  • Skin(2.4)
  • Liver(2.3)
  • Heart(2.2)
  • Intestine(2.1)

Phenotype-based relationships between genes and organs from Gene ORGANizer for PDSS2 Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
  • cardiovascular
  • digestive
  • endocrine
  • immune
  • integumentary
  • lymphatic
  • nervous
  • reproductive
  • respiratory
  • skeletal muscle
  • urinary
Head and neck:
  • brain
  • cerebellum
  • cranial nerve
  • ear
  • eye
  • head
  • pituitary gland
  • breast
  • heart
  • heart valve
  • lung
  • kidney
  • liver
  • ovary
  • penis
  • prostate
  • testicle
  • uterus
  • vagina
  • vulva
  • blood
  • blood vessel
  • bone marrow
  • coagulation system
  • hair
  • peripheral nerve
  • peripheral nervous system
  • red blood cell
  • skin
  • spinal cord
  • white blood cell
genes like me logo Genes that share expression patterns with PDSS2: view

No data available for mRNA differential expression in normal tissues , Protein tissue co-expression partners and mRNA Expression by UniProt/SwissProt for PDSS2 Gene

Orthologs for PDSS2 Gene

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

Orthologs for PDSS2 Gene

Organism Taxonomy Gene Similarity Type Details
(Pan troglodytes)
Mammalia PDSS2 30 31
  • 99.5 (n)
(Canis familiaris)
Mammalia PDSS2 30 31
  • 92.82 (n)
(Bos Taurus)
Mammalia PDSS2 30 31
  • 92.63 (n)
(Mus musculus)
Mammalia Pdss2 30 17 31
  • 87.64 (n)
(Rattus norvegicus)
Mammalia Pdss2 30
  • 85.88 (n)
(Ornithorhynchus anatinus)
Mammalia PDSS2 31
  • 73 (a)
(Monodelphis domestica)
Mammalia PDSS2 31
  • 67 (a)
(Gallus gallus)
Aves PDSS2 30 31
  • 75.58 (n)
(Anolis carolinensis)
Reptilia PDSS2 31
  • 67 (a)
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia pdss2 30
  • 68.09 (n)
Str.19088 30
(Danio rerio)
Actinopterygii pdss2 30 31
  • 66.2 (n)
Rainbow Trout
(Oncorhynchus mykiss)
Actinopterygii Omy.3792 30
Fruit Fly
(Drosophila melanogaster)
Insecta CG10585 30 31
  • 49.72 (n)
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP006015 30
  • 49.24 (n)
Baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes COQ1 31
  • 18 (a)
Sea Squirt
(Ciona savignyi)
Ascidiacea CSA.2932 31
  • 31 (a)
Species where no ortholog for PDSS2 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • 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)
  • 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)
  • Rice (Oryza sativa)
  • 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 PDSS2 Gene

Gene Tree for PDSS2 (if available)
Gene Tree for PDSS2 (if available)
Evolutionary constrained regions (ECRs) for PDSS2: view image

Paralogs for PDSS2 Gene

Paralogs for PDSS2 Gene Pseudogenes for PDSS2 Gene

genes like me logo Genes that share paralogs with PDSS2: view

Variants for PDSS2 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for PDSS2 Gene

SNP ID Clinical significance and condition Chr 06 pos Variation AA Info Type
671542 Benign: not provided 107,155,014(-) T/C INTRON_VARIANT
671641 Benign: not provided 107,212,061(-) G/A INTRON_VARIANT
673512 Likely Benign: not provided 107,273,777(-) GATTTAACCCTATCCT INTRON_VARIANT
673752 Likely Benign: not provided 107,212,587(-) C/T INTRON_VARIANT
674100 Likely Benign: not provided 107,459,824(-) G/A

Additional dbSNP identifiers (rs#s) for PDSS2 Gene

Structural Variations from Database of Genomic Variants (DGV) for PDSS2 Gene

Variant ID Type Subtype PubMed ID
dgv6135n100 CNV gain 25217958
dgv87n68 CNV loss 17160897
esv1000677 CNV deletion 20482838
esv1575074 CNV insertion 17803354
esv26284 CNV loss 19812545
esv2629723 CNV deletion 19546169
esv2669947 CNV deletion 23128226
esv2676943 CNV deletion 23128226
esv2732546 CNV deletion 23290073
esv2732549 CNV deletion 23290073
esv3610293 CNV loss 21293372
esv3610294 CNV loss 21293372
esv3610295 CNV gain 21293372
esv3610296 CNV loss 21293372
esv3610297 CNV loss 21293372
esv3610298 CNV loss 21293372
esv3610300 CNV loss 21293372
nsv1030534 CNV gain 25217958
nsv1114861 CNV deletion 24896259
nsv1151050 CNV deletion 26484159
nsv516771 CNV loss 19592680
nsv830762 CNV gain 17160897

Variation tolerance for PDSS2 Gene

Residual Variation Intolerance Score: 35.2% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 3.75; 57.82% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for PDSS2 Gene

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

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for PDSS2 Gene

Disorders for PDSS2 Gene

MalaCards: The human disease database

(18) MalaCards diseases for PDSS2 Gene - From: UniProtKB/Swiss-Prot, OMIM, ClinVar, GTR, Orphanet, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
coenzyme q10 deficiency, primary, 3
  • coq10d3
leigh syndrome with nephrotic syndrome
  • infantile subacute necrotizing encephalopathy with nephrotic syndrome
nephrotic syndrome
  • finnish congenital nephrotic syndrome
leigh syndrome
  • ls
periodic limb movement disorder
  • nocturnal myoclonus
- elite association - COSMIC cancer census association via MalaCards
Search PDSS2 in MalaCards View complete list of genes associated with diseases


  • Coenzyme Q10 deficiency, primary, 3 (COQ10D3) [MIM:614652]: A fatal encephalomyopathic form of coenzyme Q10 deficiency with nephrotic syndrome. Coenzyme Q10 deficiency is an autosomal recessive disorder with variable manifestations consistent with 5 major phenotypes. The phenotypes include an encephalomyopathic form with seizures and ataxia; a multisystem infantile form with encephalopathy, cardiomyopathy and renal failure; a predominantly cerebellar form with ataxia and cerebellar atrophy; Leigh syndrome with growth retardation; and an isolated myopathic form. {ECO:0000269 PubMed:17186472}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Additional Disease Information for PDSS2

Genetic Association Database
Human Genome Epidemiology Navigator
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
Open Targets Platform
genes like me logo Genes that share disorders with PDSS2: view

No data available for Genatlas for PDSS2 Gene

Publications for PDSS2 Gene

  1. Characterization of solanesyl and decaprenyl diphosphate synthases in mice and humans. (PMID: 16262699) Saiki R … Kawamukai M (The FEBS journal 2005) 2 3 4
  2. 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
  3. Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression. (PMID: 20877624) Hendrickson SL … O'Brien SJ (PloS one 2010) 3 41
  4. Genotype-phenotype correlations in non-Finnish congenital nephrotic syndrome. (PMID: 20507940) Machuca E … Antignac C (Journal of the American Society of Nephrology : JASN 2010) 3 41
  5. Anticancer activity of PDSS2, prenyl diphosphate synthase, subunit 2, in gastric cancer tissue and the SGC7901 cell line. (PMID: 19209031) Chen P … Niu YY (Anti-cancer drugs 2009) 3 23

Products for PDSS2 Gene

Sources for PDSS2 Gene