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PDSS2 Gene

protein-coding   GIFtS: 53
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)
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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
COQ10D32 5     EC 2.5.1.913
Chromosome 6 Open Reading Frame 2101     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, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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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, primary, 3. 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 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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Regulatory elements:
   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 Chromatin IP Primers for PDSS2

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing 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 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, 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., Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
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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
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


See PDSS2 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

REFSEQ proteins: NP_065114.3  
ENSEMBL proteins: 
 ENSP00000358033   ENSP00000392613   ENSP00000358027   ENSP00000399691  
Reactome Protein details: Q86YH6

PDSS2 Human Recombinant Protein Products:

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PDSS2 Assay Products:

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Cloud-Clone Corp. CLIAs for PDSS2


(According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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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,
transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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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:    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/body 
 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: Let us create your new Knockout/Knockin mouse model for PDSS2
   inGenious Targeting Laboratory: Contact us about creating complex and humanized mouse models 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
Products:
    
miRTarBase miRNAs that target PDSS2:
hsa-mir-26b-5p (MIRT029379)

Block miRNA regulation of human, mouse, rat PDSS2 using miScript Target Protectors
Selected qRT-PCR 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:
    
OriGene RNAi products in human, mouse, rat for PDSS2
Predesigned siRNA for gene silencing in human, mouse, rat PDSS2

Gene Editing
Products:
DNA2.0 Custom Protein Engineering Service for PDSS2

Clone
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OriGene clones in human, mouse for PDSS2 (see all 7)
OriGene ORF clones in mouse, rat for PDSS2
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GenScript: all cDNA clones in your preferred vector: PDSS2 (NM_020381)
Browse Sino Biological Human cDNA Clones
DNA2.0 Custom Codon Optimized Gene Synthesis Service for PDSS2
Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat PDSS2

Cell Line
Products:
     
GenScript Custom overexpressing Cell Line Services for PDSS2
Browse ESI BIO Cell Lines and PureStem Progenitors for PDSS2 
In Situ Assay
Products:
   

 
Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for PDSS2


(According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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Subcellular locations from UniProtKB/Swiss-Prot
DLP1_HUMAN, Q86YH6: Mitochondrion (Potential)
Subcellular locations from COMPARTMENTS: 

CompartmentConfidence
cytosol4
mitochondrion4
peroxisome2

Gene Ontology (GO): 3 cellular component terms:    About this table

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

PDSS2 for ontologies           About GeneDecksing


(SuperPaths according to PathCards, Pathways according to 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 QIAGEN, 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 Apr 2014 via Entrez Gene).
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SuperPaths for PDSS2 About                                                                                                See pathways by source

SuperPathContained pathways About
1Ubiquinol biosynthesis
Ubiquinol biosynthesis0.42
all-trans-decaprenyl diphosphate biosynthesis0.00
2Metabolism
Metabolism0.38
Metabolism of lipids and lipoproteins0.37
3superpathway of cholesterol biosynthesis
Terpenoid backbone biosynthesis0.34

Pathways by source                                                                                                                                                                 See SuperPaths
Show all pathways


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

1 Reactome Pathway for PDSS2
    Ubiquinol biosynthesis


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

    Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for PDSS2
Interactions:

    Search GeneGlobe Interaction Network for PDSS2

STRING Interaction Network Preview (showing 5 interactants - click image to see 25)

Selected Interacting proteins for PDSS2 (Q86YH62, 3 ENSP000003580334) via UniProtKB, MINT, STRING, and/or I2D (see all 37)

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
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Gene Ontology (GO): 5 biological process terms:    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, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
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Browse Small Molecules at EMD Millipore
   Browse drugs & compounds from Enzo Life Sciences
  Browse compounds at ApexBio 

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)



PDSS2 for compounds           About GeneDecksing



(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,
siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, and/or QIAGEN )
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REFSEQ mRNAs for PDSS2 gene: 
NM_020381.3  

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
Products:
     
Block miRNA regulation of human, mouse, rat PDSS2 using miScript Target Protectors
Selected qRT-PCR 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:
     
OriGene RNAi products in human, mouse, rat for PDSS2
Predesigned siRNA for gene silencing in human, mouse, rat PDSS2
Clone
Products:
     
OriGene clones in human, mouse for PDSS2 (see all 7)
OriGene ORF clones in mouse, rat for PDSS2
OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
GenScript: all cDNA clones in your preferred vector: PDSS2 (NM_020381)
DNA2.0 Custom Codon Optimized Gene Synthesis Service for PDSS2
Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat PDSS2
Primer
Products:
    
OriGene qPCR primer pairs and template standards for PDSS2
OriGene qSTAR qPCR primer pairs in human, mouse for PDSS2
Pre-validated RT2 qPCR Primer Assay in human, mouse, rat PDSS2
  QuantiTect SYBR Green Assays in human, mouse, rat PDSS2
  QuantiFast Probe-based Assays in human, mouse, rat PDSS2

Selected AceView cDNA sequences (see all 124):

AW006282 CD630093 AA370499 N95678 BU197370 CB161246 CA425704 AF086233 
BQ717193 BI335846 AA226990 BF594439 CA423080 AI241634 AA314404 BX951249 
BP338626 BE669777 CA443260 H49565 BU608449 BX119736 AI678112 AI453717 

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™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
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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
 selected tissues (see all 2) fully expand
 
 Bone (Muscoskeletal System)
         Zeugopod Growth Plate
 
 Gall Bladder (Hepatobiliary System)
PDSS2 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

PDSS2 Protein Expression
    Custom PCR Arrays for PDSS2
Primer
Products:
OriGene qPCR primer pairs and template standards for PDSS2
OriGene qSTAR qPCR primer pairs in human, mouse for PDSS2
Pre-validated RT2 qPCR Primer Assay in human, mouse, rat PDSS2
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QuantiFast Probe-based Assays in human, mouse, rat PDSS2
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)
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This gene was present in the common ancestor of animals and fungi.

Orthologs for PDSS2 gene from Selected 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_419804.4  XP_419804.1 
lizard
(Anolis carolinensis)
Reptilia PDSS26
prenyl (decaprenyl) diphosphate synthase, subunit ...
67(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 66.2(n)
66.85(a)
  436624  NM_001002351.1  NP_001002351.1 
fruit fly
(Drosophila melanogaster)
Insecta CG105851 CG10585 49.72(n)
42.33(a)
  40323  NM_141020.4  NP_649277.1 
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes COQ16
Hexaprenyl pyrophosphate synthetase, catalyzes the...
18(a)
1 → many
II(242809-244230) YBR003W


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)
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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), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
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Selected SNPs for PDSS2 (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) Selected 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
Site Specific Mutation Identification with 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.)
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OMIM gene information: 610564   
OMIM disorders: 614652  
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

  • 16 diseases for PDSS2:    About MalaCards
    pdss2-related coenzyme q10 deficiency    coenzyme q10 deficiency, primary, 3    coenzyme q10 deficiency, primary, 1    coenzyme q10 deficiency disease
    complex regional pain syndrome    encephalomyopathy    paine syndrome    nephrotic syndrome
    cleft lip    ataxia    tuberculosis    melanoma
    lung cancer    multiple myeloma    myeloma    malaria

    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)
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    PubMed articles for PDSS2 gene, integrated from 10 sources (see all 23):
    (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. (FEBS J. 2005)
    2. Genotype-phenotype correlations in non-Finnish congenital nephrotic syndrome. (PubMed id 20507940)1, 4 Machuca E....Antignac C. (J. Am. Soc. Nephrol. 2010)
    3. Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression. (PubMed id 20877624)1, 4 Hendrickson S.L....O'Brien S.J. (PLoS ONE 2010)
    4. Variation at the NFATC2 locus increases the risk of thiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipril and rosiglitazone Medication (DREAM) study. (PubMed id 20628086)1, 4 Bailey S.D....Anand S. (Diabetes Care 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. (Genet. Med. 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. (Genome Res. 2004)
    7. The DNA sequence and analysis of human chromosome 6. (PubMed id 14574404)1, 2 Mungall A.J.... Beck S. (Nature 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. (Anticancer Drugs 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. (Am. J. Hum. Genet. 2006)
    10. Focal segmental glomerulosclerosis is associated with a PDSS2 haplotype and, independently, with a decreased content of coenzyme Q10. (PubMed id 23926186)1 Gasser D.L....Kopp J.B. (Am. J. Physiol. Renal Physiol. 2013)

    (in PubMed, OMIM, and NCBI Bookshelf)
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    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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    Entrez Gene: 57107 HGNC: 23041 AceView: C6orf210 Ensembl:ENSG00000164494 euGenes: HUgn57107
    ECgene: PDSS2 Kegg: 57107 H-InvDB: PDSS2

    (According to HUGE)
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      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
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    NameDescription
    PharmGKB entry for PDSS2 Pharmacogenomics, SNPs, Pathways
    GeneReviewshttp://www.ncbi.nlm.nih.gov/books/NBK1116/?term=PDSS2[genesymbol]

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
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    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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