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Aliases for PDSS2 Gene

Aliases for PDSS2 Gene

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

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 Ubiquinol 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 for PDSS2 Gene

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

Gene Wiki entry for PDSS2 Gene

Additional gene information for PDSS2 Gene

No data available for CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for PDSS2 Gene

Genomics for PDSS2 Gene

GeneHancer (GH) Regulatory Elements for PDSS2 Gene

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 650.7 +0.2 176 2.3 PKNOX1 FOXA2 SMAD1 ARID4B SIN3A DMAP1 ZNF2 ZBTB7B YY1 SLC30A9 PDSS2 PIR39325 ENSG00000227072 ENSG00000230248 LOC100506224 SOBP
GH06J107488 Promoter/Enhancer 2.4 EPDnew Ensembl ENCODE dbSUPER 10.7 -32.7 -32736 7.9 PKNOX1 FOXA2 ARID4B SIN3A FEZF1 DMAP1 ZNF2 YY1 SLC30A9 ZNF213 SOBP PDSS2 ENSG00000234206 GC06M107466
GH06J107220 Enhancer 0.7 ENCODE 8.4 +238.2 238184 1.3 FOXA2 USF1 MAX RAD21 YY1 EGR1 HNF4G IKZF2 RXRA NR2F1 PDSS2 GC06M107226 ENSG00000276620
GH06J107241 Enhancer 1 Ensembl ENCODE 4.6 +217.7 217743 1.8 FOXA2 RAD21 SCRT2 RXRA CEBPB TGIF2 ZNF217 NFIL3 SP1 RCOR2 SOBP PDSS2 GC06P107246 GC06P107237
GH06J107151 Enhancer 0.7 ENCODE 6.5 +306.3 306297 3.4 PKNOX1 SAP130 FEZF1 BMI1 ZIC2 ZNF335 HOMEZ MIXL1 RFX1 OVOL3 PDSS2 RNU6-1299P ENSG00000276620
- 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 UCSC Golden Path with GeneCards custom track

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

Genomic Locations for PDSS2 Gene

Genomic Locations for PDSS2 Gene
307,146 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; Positions=28; Evidence={ECO:0000305}; Sequence=CAH73572.1; Type=Erroneous gene model prediction; Evidence={ECO:0000305}; Sequence=CAI22355.1; Type=Erroneous gene model prediction; 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

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:
(2E,6E)-farnesyl diphosphate + 7 isopentenyl diphosphate = 7 diphosphate + all-trans-decaprenyl diphosphate.

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:0016740 transferase activity IEA --
GO:0046982 protein heterodimerization activity IDA 16262699
GO:0050347 trans-octaprenyltranstransferase 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<tm1b(EUCOMM)Hmgu>
  • Pdss2 Pdss2<tm1.1Dalg>

Animal Model Products

miRNA for PDSS2 Gene

miRTarBase miRNAs that target PDSS2

Clone Products

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

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 --
GO:0051290 protein heterotetramerization 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

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

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Isopentenyl pyrophosphate Experimental Pharma 0

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

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
all-trans-Decaprenyl diphosphate
Farnesyl pyrophosphate
  • (2E,6E)-Farnesol diphosphate
  • (2E,6E)-Farnesyl diphosphate
  • (2E,6E)-Farnesyl pyrophosphate
  • (all-e)-Farnesyl diphosphate
  • (e,e)-Farnesyl pyrophosphate
  • [(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

Unigene Clusters for PDSS2 Gene

Prenyl (decaprenyl) diphosphate synthase, subunit 2:
Representative Sequences:

Clone Products

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

No ASD Table

Relevant External Links for PDSS2 Gene

GeneLoc Exon Structure for
ECgene alternative splicing isoforms for

Expression for PDSS2 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP 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

NURSA nuclear receptor signaling pathways regulating expression of PDSS2 Gene:


SOURCE GeneReport for Unigene cluster for PDSS2 Gene:


Evidence on tissue expression from TISSUES for PDSS2 Gene

  • Nervous system(2.5)
  • Kidney(2)

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 34 33
  • 99.5 (n)
(Canis familiaris)
Mammalia PDSS2 34 33
  • 92.82 (n)
(Bos Taurus)
Mammalia PDSS2 34 33
  • 92.63 (n)
(Mus musculus)
Mammalia Pdss2 16 34 33
  • 87.64 (n)
(Rattus norvegicus)
Mammalia Pdss2 33
  • 85.88 (n)
(Ornithorhynchus anatinus)
Mammalia PDSS2 34
  • 73 (a)
(Monodelphis domestica)
Mammalia PDSS2 34
  • 67 (a)
(Gallus gallus)
Aves PDSS2 34 33
  • 75.58 (n)
(Anolis carolinensis)
Reptilia PDSS2 34
  • 67 (a)
tropical clawed frog
(Silurana tropicalis)
Amphibia pdss2 33
  • 68.09 (n)
Str.19088 33
(Danio rerio)
Actinopterygii pdss2 34 33
  • 66.2 (n)
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.3792 33
fruit fly
(Drosophila melanogaster)
Insecta CG10585 34 33
  • 49.72 (n)
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP006015 33
  • 49.24 (n)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes COQ1 34
  • 18 (a)
sea squirt
(Ciona savignyi)
Ascidiacea CSA.2932 34
  • 31 (a)
Species where no ortholog for PDSS2 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya 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 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 from dbSNP and Humsavar for PDSS2 Gene

SNP ID Clin Chr 06 pos Variation AA Info Type
rs1045159 likely-benign, Coenzyme Q10 deficiency, primary 107,152,933(-) C/G 3_prime_UTR_variant, genic_downstream_transcript_variant
rs11548249 uncertain-significance, Coenzyme Q10 deficiency, primary 107,153,033(-) A/T 3_prime_UTR_variant, genic_downstream_transcript_variant
rs116118550 uncertain-significance, Coenzyme Q10 deficiency, primary 107,153,284(-) C/T 3_prime_UTR_variant, genic_downstream_transcript_variant
rs118203955 pathogenic, Coenzyme Q10 deficiency, primary, 3 107,210,483(-) G/A/C coding_sequence_variant, genic_downstream_transcript_variant, intron_variant, missense_variant, stop_gained
rs118203956 pathogenic, Coenzyme Q10 deficiency, primary, 3, Coenzyme Q10 deficiency, primary, 3 (COQ10D3) [MIM:614652] 107,154,674(-) G/A coding_sequence_variant, genic_downstream_transcript_variant, missense_variant

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

(4) MalaCards diseases for PDSS2 Gene - From: HGMD, OMIM, ClinVar, GTR, Orphanet, Swiss-Prot, 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
multiple acyl-coa dehydrogenase deficiency
  • madd
leigh syndrome
  • ls
- 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
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 58
  2. 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 44 58
  3. 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 44 58
  4. Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression. (PMID: 20877624) Hendrickson SL … O'Brien SJ (PloS one 2010) 3 44 58
  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 22 58

Products for PDSS2 Gene

Sources for PDSS2 Gene

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