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Aliases for PDSS2 Gene

Aliases for PDSS2 Gene

  • Prenyl (Decaprenyl) Diphosphate Synthase, Subunit 2 2 3
  • C6orf210 3 4 6
  • DLP1 3 4 6
  • All-Trans-Decaprenyl-Diphosphate Synthase Subunit 2 3 4
  • Decaprenyl Pyrophosphate Synthase Subunit 2 3 4
  • COQ10D3 3 6
  • 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 2.5.1.91 4
  • BA59I9.3 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 (Prenyl (Decaprenyl) Diphosphate Synthase, Subunit 2) is a Protein Coding gene. Diseases associated with PDSS2 include coenzyme q10 deficiency, primary, 3 and pdss2-related coenzyme q10 deficiency. Among its related pathways are Metabolism and Metabolism. 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

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

Genomics for PDSS2 Gene

Regulatory Elements for PDSS2 Gene

Epigenetics Products

  • DNA Methylation CpG Assay Predesigned for Pyrosequencing in human,mouse,rat

Genomic Location for PDSS2 Gene

Start:
107,152,557 bp from pter
End:
107,459,575 bp from pter
Size:
307,019 bases
Orientation:
Minus strand

Genomic View for PDSS2 Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
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:
    Q86YH6-DLP1_HUMAN
    Recommended name:
    Decaprenyl-diphosphate synthase subunit 2
    Protein Accession:
    Q86YH6
    Secondary Accessions:
    • Q33DR4
    • Q4G158
    • Q5VU38
    • Q5VU39
    • Q9NR58

    Protein attributes for PDSS2 Gene

    Size:
    399 amino acids
    Molecular mass:
    44129 Da
    Quaternary structure:
    • Heterotetramer of 2 DPS1/TPRT and 2 DLP1 subunits.
    SequenceCaution:
    • 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

    UniProtKB/Swiss-Prot:

neXtProt entry for PDSS2 Gene

Proteomics data for PDSS2 Gene at MOPED

Post-translational modifications for PDSS2 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for PDSS2 Gene

ENSEMBL proteins:
Reactome Protein details:
REFSEQ proteins:

No data available for DME Specific Peptides for PDSS2 Gene

Domains for PDSS2 Gene

Protein Domains for PDSS2 Gene

Graphical View of Domain Structure for InterPro Entry

Q86YH6

UniProtKB/Swiss-Prot:

DLP1_HUMAN :
  • Q86YH6
Family:
  • Belongs to the FPP/GGPP synthase family.
genes like me logo Genes that share domains with PDSS2: view

No data available for Gene Families for PDSS2 Gene

Function for PDSS2 Gene

Molecular function for PDSS2 Gene

UniProtKB/Swiss-Prot CatalyticActivity: (2E,6E)-farnesyl diphosphate + 7 isopentenyl diphosphate = 7 diphosphate + all-trans-decaprenyl diphosphate.
UniProtKB/Swiss-Prot Function: Supplies decaprenyl diphosphate, the precursor for the side chain of the isoprenoid quinones ubiquinone-10.

Enzyme Numbers (IUBMB) 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: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

Animal Models for PDSS2 Gene

MGI Knock Outs for PDSS2:

Animal Model Products

CRISPR Products

miRNA for PDSS2 Gene

miRTarBase miRNAs that target PDSS2

miRNA Products

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for PDSS2

In Situ Assay Products

Flow Cytometry Products

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

Localization for PDSS2 Gene

Subcellular locations from UniProtKB/Swiss-Prot for PDSS2 Gene

Mitochondrion.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for PDSS2 Gene COMPARTMENTS Subcellular localization image for PDSS2 gene
Compartment Confidence
cytosol 4
mitochondrion 4
peroxisome 2

Gene Ontology (GO) - Cellular Components for PDSS2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005737 cytoplasm IDA --
GO:0005739 mitochondrion --
GO:0005759 mitochondrial matrix TAS --
GO:1990234 transferase complex IDA 16262699
genes like me logo Genes that share ontologies with PDSS2: view

Pathways 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:0044281 small molecule metabolic process TAS --
GO:0050878 regulation of body fluid levels IEA --
GO:0051290 protein heterotetramerization IEA --
genes like me logo Genes that share ontologies with PDSS2: view

Compounds for PDSS2 Gene

(1) Novoseek inferred chemical compound relationships for PDSS2 Gene

Compound -log(P) Hits PubMed IDs
dimethylallyl diphosphate 92.5 3
genes like me logo Genes that share compounds with PDSS2: view

Transcripts for PDSS2 Gene

Unigene Clusters for PDSS2 Gene

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

CRISPR Products

miRNA Products

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for PDSS2

Primer Products

Flow Cytometry Products

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

No ASD Table

Relevant External Links for PDSS2 Gene

GeneLoc Exon Structure for
PDSS2
ECgene alternative splicing isoforms for
PDSS2

Expression for PDSS2 Gene

mRNA expression in normal human tissues for PDSS2 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Integrated Proteomics: protein expression from ProteomicsDB, PaxDb, MOPED, and MaxQB for PDSS2 Gene

SOURCE GeneReport for Unigene cluster for PDSS2 Gene Hs.745008

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

In Situ Assay Products

No data available for mRNA differential expression in normal tissues 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
chimpanzee
(Pan troglodytes)
Mammalia PDSS2 35
  • 99.5 (n)
  • 99 (a)
PDSS2 36
  • 99 (a)
OneToOne
cow
(Bos Taurus)
Mammalia PDSS2 35
  • 92.63 (n)
  • 91.84 (a)
PDSS2 36
  • 91 (a)
OneToOne
dog
(Canis familiaris)
Mammalia PDSS2 35
  • 92.82 (n)
  • 91.73 (a)
PDSS2 36
  • 81 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Pdss2 35
  • 87.64 (n)
  • 88.72 (a)
Pdss2 16
Pdss2 36
  • 87 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia PDSS2 36
  • 67 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia PDSS2 36
  • 73 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Pdss2 35
  • 85.88 (n)
  • 88.47 (a)
chicken
(Gallus gallus)
Aves PDSS2 35
  • 75.58 (n)
  • 77.27 (a)
PDSS2 36
  • 64 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia PDSS2 36
  • 67 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia pdss2 35
  • 68.09 (n)
  • 67.55 (a)
Str.19088 35
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.3792 35
zebrafish
(Danio rerio)
Actinopterygii pdss2 35
  • 66.2 (n)
  • 66.85 (a)
pdss2 36
  • 60 (a)
OneToOne
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP006015 35
  • 49.24 (n)
  • 44.5 (a)
fruit fly
(Drosophila melanogaster)
Insecta CG10585 35
  • 49.72 (n)
  • 42.33 (a)
CG10585 36
  • 33 (a)
OneToOne
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes COQ1 36
  • 18 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea CSA.2932 36
  • 31 (a)
OneToOne
Species with no ortholog for PDSS2:
  • 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

ENSEMBL:
Gene Tree for PDSS2 (if available)
TreeFam:
Gene Tree for PDSS2 (if available)

Paralogs for PDSS2 Gene

Paralogs for PDSS2 Gene

Pseudogenes.org 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 Sequence Context AA Info Type MAF
rs167633 -- 107,458,391(-) ttgtc(C/G)cccag intron-variant
rs186456 -- 107,412,548(+) TGCCC(A/C)TTTTT intron-variant
rs186457 -- 107,458,300(-) caccg(G/T)gttag intron-variant
rs191177 -- 107,391,803(-) GCTGG(C/T)GCATA intron-variant
rs223099 -- 107,420,335(+) TGCTG(C/T)GACTA intron-variant

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

Variant ID Type Subtype PubMed ID
esv2732546 CNV Deletion 23290073
dgv87n68 CNV Loss 17160897
nsv516771 CNV Loss 19592680
esv1000677 CNV Deletion 20482838
esv2669947 CNV Deletion 23128226
esv26284 CNV Loss 19812545
esv2676943 CNV Deletion 23128226
nsv830762 CNV Gain 17160897
esv2732549 CNV Deletion 23290073
esv1575074 CNV Insertion 17803354
esv2629723 CNV Deletion 19546169

Relevant External Links for PDSS2 Gene

HapMap Linkage Disequilibrium report
PDSS2
Human Gene Mutation Database (HGMD)
PDSS2

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

Disorders for PDSS2 Gene

(1) OMIM Diseases for PDSS2 Gene (610564)

UniProtKB/Swiss-Prot

DLP1_HUMAN
  • 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.

(1) University of Copenhagen DISEASES for PDSS2 Gene

(1) Novoseek inferred disease relationships for PDSS2 Gene

Disease -log(P) Hits PubMed IDs
tumors 18 5

Relevant External Links for PDSS2

Genetic Association Database (GAD)
PDSS2
Human Genome Epidemiology (HuGE) Navigator
PDSS2
genes like me logo Genes that share disorders with PDSS2: view

Publications for PDSS2 Gene

  1. Characterization of solanesyl and decaprenyl diphosphate synthases in mice and humans. (PMID: 16262699) Saiki R. … Kawamukai M. (FEBS J. 2005) 2 3 4
  2. The DNA sequence and analysis of human chromosome 6. (PMID: 14574404) Mungall A.J. … Beck S. (Nature 2003) 3 4
  3. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard D.S. … Malek J. (Genome Res. 2004) 3 4
  4. Leigh syndrome with nephropathy and CoQ10 deficiency due to decaprenyl diphosphate synthase subunit 2 (PDSS2) mutations. (PMID: 17186472) Lopez L.C. … Hirano M. (Am. J. Hum. Genet. 2006) 4 23
  5. Anticancer activity of PDSS2, prenyl diphosphate synthase, subunit 2, in gastric cancer tissue and the SGC7901 cell line. (PMID: 19209031) Chen P. … Niu Y.Y. (Anticancer Drugs 2009) 3 23

Products for PDSS2 Gene

Sources for PDSS2 Gene

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