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Category   Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21
GIFtS

PDSS2 Gene

protein-coding   GIFtS: 57
GCID: GC06M107473

Prenyl (Decaprenyl) Diphosphate Synthase, Subunit 2

(Previous name: chromosome 6 open reading frame 210)
(Previous symbol: C6orf210)
  See related diseases
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
About This Section

Aliases
Prenyl (Decaprenyl) Diphosphate Synthase, Subunit 21 2     bA59I9.32
C6orf2101 2 3 5     Decaprenyl Pyrophosphate Synthetase Subunit 22
DLP12 3 5     Decaprenyl-Diphosphate Synthase Subunit 22
All-Trans-Decaprenyl-Diphosphate Synthase Subunit 22 3     hDLP12
Decaprenyl Pyrophosphate Synthase Subunit 22 3     Subunit 2 Of Decaprenyl Diphosphate Synthase2
Chromosome 6 Open Reading Frame 2101     EC 2.5.1.913
COQ10D32     Candidate Tumor Suppressor Protein3

External Ids:    HGNC: 230411   Entrez Gene: 571072   Ensembl: ENSG000001644947   OMIM: 6105645   UniProtKB: Q86YH63   

Export aliases for PDSS2 gene to outside databases

Previous GC identifers: GC06M107581 GC06M105044


(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

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 pdss2-related coenzyme q10 deficiency, and coenzyme q10 deficiency disease, and among its related super-pathways are Metabolic pathways and superpathway of geranylgeranyldiphosphate biosynthesis I (via mevalonate). GO annotations related to this gene include trans-octaprenyltranstransferase activity and protein heterodimerization activity. An important paralog of this gene is PDSS1.

UniProtKB/Swiss-Prot: DLP1_HUMAN, Q86YH6
Function: Supplies decaprenyl diphosphate, the precursor for the side chain of the isoprenoid quinones
ubiquinone-10

Gene Wiki entry for PDSS2 Gene


(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 73), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000006.11  NT_025741.15  NC_018917.2  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the PDSS2 gene promoter:
         TBP   AML1a   Egr-1   NF-kappaB   MEF-2A   AREB6   Egr-2   S8   ARP-1   NF-kappaB1   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidPDSS2 promoter sequence
   Search SABiosciences Chromatin IP Primers for PDSS2

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat PDSS2


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 6q21   Ensembl cytogenetic band:  6q21   HGNC cytogenetic band: 6q21

PDSS2 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
PDSS2 gene location

GeneLoc information about chromosome 6         GeneLoc Exon Structure

GeneLoc location for GC06M107473:  view genomic region     (about GC identifiers)

Start:
107,473,761 bp from pter      End:
107,780,779 bp from pter
Size:
307,019 bases      Orientation:
minus strand

(According to UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MAXQB RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Ontologies according to Gene Ontology Consortium 01 Oct 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
About This Section

UniProtKB/Swiss-Prot: DLP1_HUMAN, Q86YH6 (See protein sequence)
Recommended Name: Decaprenyl-diphosphate synthase subunit 2  
Size: 399 amino acids; 44129 Da
Subunit: Heterotetramer of 2 DPS1/TPRT and 2 DLP1 subunits
Subcellular location: Mitochondrion (Potential)
Sequence caution: Sequence=AAH29491.1; Type=Frameshift; Positions=28; Sequence=CAH73572.1; Type=Erroneous gene
model prediction; Sequence=CAI22355.1; Type=Erroneous gene model prediction;
Secondary accessions: Q33DR4 Q4G158 Q5VU38 Q5VU39 Q9NR58
Alternative splicing: 2 isoforms:  Q86YH6-1   Q86YH6-2   

Explore the universe of human proteins at neXtProt for PDSS2: NX_Q86YH6

Explore proteomics data for PDSS2 at MOPED 

Post-translational modifications:

  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_Q86YH6

  • PDSS2 Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    PDSS2 Protein Expression
    REFSEQ proteins: NP_065114.3  
    ENSEMBL proteins: 
     ENSP00000358033   ENSP00000392613   ENSP00000358027   ENSP00000399691  
    Reactome Protein details: Q86YH6
    Human Recombinant Protein Products for PDSS2: 
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    Novus Biologicals PDSS2 Protein
    Novus Biologicals PDSS2 Lysates
    Browse Sino Biological Recombinant Proteins
    Browse Sino Biological Cell Lysates 
    Browse ProSpec Recombinant Proteins
    Cloud-Clone Corp. Proteins for PDSS2 

    Gene Ontology (GO): 3 cellular component terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005737cytoplasm IDA--
    GO:0005739mitochondrion ----
    GO:0005759mitochondrial matrix TAS--

    PDSS2 for ontologies           About GeneDecksing



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    Cloud-Clone Corp. ELISAs for PDSS2 
    Cloud-Clone Corp. CLIAs for PDSS2


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    3 InterPro protein domains:
     IPR000092 Polyprenyl_synt
     IPR017446 Polyprenyl_synth-rel
     IPR008949 Terpenoid_synth

    Graphical View of Domain Structure for InterPro Entry Q86YH6

    ProtoNet protein and cluster: Q86YH6

    UniProtKB/Swiss-Prot: DLP1_HUMAN, Q86YH6
    Similarity: Belongs to the FPP/GGPP synthase family


    PDSS2 for domains           About GeneDecksing


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
    bound targets from SABiosciences, miRNA Gene Targets from miRTarBase, shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Sirion Biotech, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, Vector BioLabs, and Sirion Biotech, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene.)
    About This Section

    Molecular Function:

         UniProtKB/Swiss-Prot Summary: DLP1_HUMAN, Q86YH6
    Function: Supplies decaprenyl diphosphate, the precursor for the side chain of the isoprenoid quinones
    ubiquinone-10
    Catalytic activity: (2E,6E)-farnesyl diphosphate + 7 isopentenyl diphosphate = 7 diphosphate +
    all-trans-decaprenyl diphosphate

         Enzyme Number (IUBMB): EC 2.5.1.911

         Gene Ontology (GO): 3 molecular function terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000010contributes to trans-hexaprenyltranstransferase activity IDA16262699
    GO:0046982protein heterodimerization activity IDA16262699
    GO:0050347trans-octaprenyltranstransferase activity IEA--
         
    PDSS2 for ontologies           About GeneDecksing


    Phenotypes:
         2 GenomeRNAi human phenotypes for PDSS2:
     Decreased TP53 protein express  Synthetic lethal with Ras 

         14 MGI mutant phenotypes (inferred from 6 alleles(MGI details for Pdss2):
     behavior/neurological  cellular  craniofacial  digestive/alimentary  growth/size 
     homeostasis/metabolism  immune system  mortality/aging  muscle  nervous system 
     no phenotypic analysis  renal/urinary system  respiratory system  skeleton 

    PDSS2 for phenotypes           About GeneDecksing

    Animal Models:
         MGI mouse knock-outs for PDSS2: Pdss2tm1.2Jdhu Pdss2tm1.1Dalg

       inGenious Targeting Laboratory - Custom generated mouse model solutions for PDSS2 
       inGenious Targeting Laboratory - Custom generated inducible mouse model solutions for PDSS2

       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for PDSS2 
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for PDSS2 

    miRNA
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    8/49 QIAGEN miScript miRNA Assays for microRNAs that regulate PDSS2 (see all 49):
    hsa-miR-411* hsa-miR-379* hsa-miR-3655 hsa-miR-513a-5p hsa-miR-30d hsa-miR-578 hsa-miR-766 hsa-miR-218
    SwitchGear 3'UTR luciferase reporter plasmidPDSS2 3' UTR sequence
    Inhib. RNA
    Products:
        
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    Gene Editing
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for PDSS2


    (Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene).
    About This Section

    SuperPaths for PDSS2 About                                                                                                See pathways by source

    SuperPathContained pathways About
    1Metabolism
    Metabolism0.40
    Metabolism of lipids and lipoproteins0.34
    2superpathway of geranylgeranyldiphosphate biosynthesis I (via mevalonate)
    Terpenoid backbone biosynthesis0.55
    3Ubiquinone and other terpenoid-quinone biosynthesis
    Ubiquinol biosynthesis0.42
    4all-trans-decaprenyl diphosphate biosynthesis
    all-trans-decaprenyl diphosphate biosynthesis

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways


    1 BioSystems Pathway for PDSS2
        all-trans-decaprenyl diphosphate biosynthesis

    3        Reactome Pathways for PDSS2
        Metabolism
    Ubiquinol biosynthesis
    Metabolism of lipids and lipoproteins


    1         Kegg Pathway  (Kegg details for PDSS2):
        Terpenoid backbone biosynthesis

    UniProtKB/Swiss-Prot: DLP1_HUMAN, Q86YH6
    Pathway: Cofactor biosynthesis; ubiquinone biosynthesis


    PDSS2 for pathways           About GeneDecksing

    Interactions:

        Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for PDSS2

    STRING Interaction Network Preview (showing 5 interactants - click image to see 16)

    5/18 Interacting proteins for PDSS2 (Q86YH62, 3 ENSP000003580334) via UniProtKB, MINT, STRING, and/or I2D (see all 18)

    InteractantInteraction Details
    GeneCardExternal ID(s)
    ABL1P005192, 3, ENSP000003614234MINT-8110239 I2D: score=1 STRING: ENSP00000361423
    FYNP062412, 3, ENSP000003576564MINT-8111115 I2D: score=1 STRING: ENSP00000357656
    PIK3R1P279862, 3, ENSP000002743354MINT-8111823 I2D: score=1 STRING: ENSP00000274335
    PLCG1P191742, 3, ENSP000002440074MINT-8112447 I2D: score=1 STRING: ENSP00000244007
    SRCP129312, 3, ENSP000003509414MINT-8112975 I2D: score=1 STRING: ENSP00000350941
    About this table

    Gene Ontology (GO): 5 biological process terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006744ubiquinone biosynthetic process TAS--
    GO:0008299isoprenoid biosynthetic process IDA16262699
    GO:0044281small molecule metabolic process TAS--
    GO:0050878regulation of body fluid levels IEA--
    GO:0051290protein heterotetramerization IEA--

    PDSS2 for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
    About This Section

    PDSS2 for compounds           About GeneDecksing

    Browse Small Molecules at EMD Millipore
    Browse drugs & compounds from Enzo Life Sciences

    Browse Tocris compounds for PDSS2 (DLP1)

    1 Novoseek inferred chemical compound relationship for PDSS2 gene    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    dimethylallyl diphosphate 92.5 8 19209031 (2), 19188149 (1)

    Search CenterWatch for drugs/clinical trials and news about PDSS2 / DLP1

    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    Conferences by KenesGroup, exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    RNAi Products from EMD Millipore,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
    Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Sirion Biotech, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section

    REFSEQ mRNAs for PDSS2 gene: 
    NM_020381.3  

    Unigene Cluster for PDSS2:

    Prenyl (decaprenyl) diphosphate synthase, subunit 2
    Hs.745008  [show with all ESTs]
    Unigene Representative Sequence: NM_020381
    4 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000369037(uc011eak.1 uc003prt.2 uc011eal.1 uc003pru.3)
    ENST00000449027 ENST00000369031(uc003prv.3) ENST00000453874
    miRNA
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    8/49 QIAGEN miScript miRNA Assays for microRNAs that regulate PDSS2 (see all 49):
    hsa-miR-411* hsa-miR-379* hsa-miR-3655 hsa-miR-513a-5p hsa-miR-30d hsa-miR-578 hsa-miR-766 hsa-miR-218
    SwitchGear 3'UTR luciferase reporter plasmidPDSS2 3' UTR sequence
    Inhib. RNA
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      QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat PDSS2
      QIAGEN QuantiFast Probe-based Assays in human, mouse, rat PDSS2

    Additional mRNA sequence: 

    AB210839.1 AF086233.1 AJ420575.1 AK225629.1 AK296717.1 AK301480.1 AK315804.1 AL832290.1 
    BC029491.1 BC039906.1 

    11 DOTS entries:

    DT.211653  DT.441803  DT.101978539  DT.107838  DT.91719219  DT.92423138  DT.407691  DT.102827977 
    DT.91987470  DT.95308376  DT.101971395 

    24/124 AceView cDNA sequences (see all 124):

    AW006282 BU197370 AA633846 CA425704 H49565 BI335846 BU608449 BU690109 
    AI678112 AA370499 N95678 AF086233 BX951249 BP338626 BE669777 CA443260 
    AI453717 BQ717193 AA226990 BF594439 CA423080 AI241634 AA314404 CB161246 

    GeneLoc Exon Structure


    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

    PDSS2 expression in normal human tissues (normalized intensities)      PDSS2 embryonic expression: see
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: --
    PDSS2 Expression
    About this image


    PDSS2 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database 
     5/4 selected tissues (see all 4) fully expand
     
     Blood (Hematopoietic System)    fully expand to see all 2 entries
             monocyte-derived macrophage   
     
     Ovary (Reproductive System)
             oocyte   
     
     Bone (Muscoskeletal System)
             Zeugopod Growth Plate
     
     Epithelium (Respiratory System)
             bronchial epithelial cells   

    See PDSS2 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for PDSS2

    SOURCE GeneReport for Unigene cluster: Hs.745008
        SABiosciences Custom PCR Arrays for PDSS2
    Primer
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    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for PDSS2

    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
    About This Section

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

    Orthologs for PDSS2 gene from 7/16 species (see all 16)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Pdss21 , 5 prenyl (solanesyl) diphosphate synthase, subunit 21, 5 87.64(n)1
    88.72(a)1
      10 (22.91 cM)5
    713651  NM_027772.21  NP_082048.21 
     432214865 
    chicken
    (Gallus gallus)
    Aves PDSS21 prenyl (decaprenyl) diphosphate synthase, subunit 2 75.58(n)
    77.27(a)
      421777  XM_419804.3  XP_419804.1 
    lizard
    (Anolis carolinensis)
    Reptilia PDSS26
    prenyl (decaprenyl) diphosphate synthase, subunit ...
    69(a)
    1 ↔ 1
    1(189662573-189780615)
    tropical clawed frog
    (Xenopus tropicalis)
    Amphibia Str.190882 Transcribed sequences 85.78(n)    AL888078.2 
    zebrafish
    (Danio rerio)
    Actinopterygii pdss21 prenyl (decaprenyl) diphosphate synthase, subunit 2 66.57(n)
    66.95(a)
      436624  NM_001002351.1  NP_001002351.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta CG105851 CG10585 48.86(n)
    42.23(a)
      40323  NM_141020.3  NP_649277.1 
    baker's yeast
    (Saccharomyces cerevisiae)
    Saccharomycetes COQ16
    Hexaprenyl pyrophosphate synthetase, catalyzes the...
    17(a)
    1 → many
    II(242809-244230)


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

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for PDSS2 gene
    PDSS12  

    PDSS2 for paralogs           About GeneDecksing


    1 Pseudogenes.org Pseudogene for PDSS2
    PGOHUM00000235599


    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
    About This Section

    10/5838 SNPs in PDSS2 are shown (see all 5838)    About this table     
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 6 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    VAR_0553984
    Coenzyme Q10 deficiency, primary, 3 (COQ10D3)4--see VAR_0553982 S L mis40--------
    rs1182039561,2
    Cpathogenic1107474020(-) TCCCTC/TGGAGG 2 S L mis11Minor allele frequency- T:0.00NA 4550
    rs608406561,2
    C--105048156(+) TTTTT-/T/TT  
      TTTTTT
    GAGAC
    1 -- int11NA 2
    rs94865451,2
    F--105058661(+) gtctcA/Cctctg 1 -- int11Minor allele frequency- C:0.00NA 2
    rs113065021,2
    C--105113619(+) TTTCC-/TTTTTT 1 -- int1 trp33Minor allele frequency- T:0.17NA CSA 6
    rs2007997091,2
    C--105113619(+) TTTCCC/TTTTTT 1 -- int10--------
    rs93739291,2
    C--105117307(+) TATATA/TTTTTT 1 -- int1 trp32Minor allele frequency- T:0.25NA 4
    rs586206471,2
    C--105153952(+) TTTTC-/TTTTTT 1 -- int11Minor allele frequency- T:0.00NA 2
    rs1997439761,2
    --105166549(+) TCTCT-/CTTTTT 1 -- int10--------
    rs675173891,2
    C--105183311(+) TATAA-/TTTTTTT 1 -- int11Minor allele frequency- TT:0.00NA 2

    HapMap Linkage Disequilibrium report for PDSS2 (107473761 - 107723761 bp, first 250kb of PDSS2)

    Structural Variations
         Database of Genomic Variants (DGV) 10/11 variations for PDSS2 (see all 11):    About this table     
    Variant IDTypeSubtypePubMed ID
    esv2629723CNV Deletion19546169
    esv2732546CNV Deletion23290073
    esv1000677CNV Deletion20482838
    esv2732549CNV Deletion23290073
    esv2676943CNV Deletion23128226
    esv2669947CNV Deletion23128226
    esv1575074CNV Insertion17803354
    esv26284CNV Loss19812545
    dgv87n68CNV Loss17160897
    nsv516771CNV Loss19592680


    Human Gene Mutation Database (HGMD): PDSS2
    SABiosciences Cancer Mutation PCR Assays
    SeqTarget long-range PCR primers for resequencing PDSS2
    DNA2.0 Custom Variant and Variant Library Synthesis for PDSS2

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section
    OMIM gene information: 610564   
    OMIM disorders: 607426  
    UniProtKB/Swiss-Prot: DLP1_HUMAN, Q86YH6
  • 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. Note=The disease is caused by mutations affecting the gene represented in this entry

  • 9 diseases for PDSS2:    About MalaCards
    pdss2-related coenzyme q10 deficiency    coenzyme q10 deficiency disease    encephalomyopathy    cleft lip
    nephrotic syndrome    ataxia    tuberculosis    gastric cancer
    melanoma

    1 disease from the University of Copenhagen DISEASES database for PDSS2:
    Complex regional pain syndrome

    PDSS2 for disorders           About GeneDecksing

    1 Novoseek inferred disease relationship for PDSS2 gene    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    tumors 18 12 19188149 (3), 19209031 (2)

    Genetic Association Database (GAD): PDSS2
    Human Genome Epidemiology (HuGE) Navigator: PDSS2 (7 documents)

    Export disorders for PDSS2 gene to outside databases

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
    About This Section

    PubMed articles for PDSS2 gene, integrated from 9 sources (see all 22):
    (articles sorted by number of sources associating them with PDSS2)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Characterization of solanesyl and decaprenyl diphosphate synthases in mice and humans. (PubMed id 16262699)1, 2, 3 Saiki R.... Kawamukai M. (2005)
    2. Genotype-phenotype correlations in non-Finnish congen ital nephrotic syndrome. (PubMed id 20507940)1, 4 Machuca E....Antignac C. (2010)
    3. Genetic variants in nuclear-encoded mitochondrial gen es influence AIDS progression. (PubMed id 20877624)1, 4 Hendrickson S.L....O'Brien S.J. (2010)
    4. Variation at the NFATC2 locus increases the risk of t hiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipr il and rosiglitazone Medication (DREAM) study. (PubMed id 20628086)1, 4 Bailey S.D....Anand S. (2010)
    5. Candidate gene/loci studies in cleft lip/palate and dental anomalies finds novel susceptibility genes for clefts. (PubMed id 18978678)1, 4 Vieira A.R....Marazita M.L. (2008)
    6. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)1, 2 Gerhard D.S....Malek J. (2004)
    7. The DNA sequence and analysis of human chromosome 6. (PubMed id 14574404)1, 2 Mungall A.J.... Beck S. (2003)
    8. Anticancer activity of PDSS2, prenyl diphosphate synthase, subunit 2, in gastric cancer tissue and the SGC7901 cell line. (PubMed id 19209031)1, 9 Chen P....Niu Y.Y. (2009)
    9. Leigh syndrome with nephropathy and CoQ10 deficiency due to decaprenyl diphosphate synthase subunit 2 (PDSS2) mutations. (PubMed id 17186472)2, 9 Lopez L.C.... Hirano M. (2006)
    10. Loci associated with N-glycosylation of human immunogl obulin G show pleiotropy with autoimmune diseases and haematological cancers. (PubMed id 23382691)1 Lauc G....Rudan I. (2013)

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     ANDOR
    Aliases
    Disorders
    Free Text  

      Query String
    PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section
    Entrez Gene: 57107 HGNC: 23041 AceView: C6orf210 Ensembl:ENSG00000164494 euGenes: HUgn57107
    ECgene: PDSS2 Kegg: 57107 H-InvDB: PDSS2

    (According to HUGE)
    About This Section
      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
    Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
    About This Section
    NameDescription
    PharmGKB entry for PDSS2 Pharmacogenomics, SNPs, Pathways
    GeneReviewshttp://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/PDSS2

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section
    Patent Information for PDSS2 gene:
    Search GeneIP for patents involving PDSS2

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



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