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
  • All Trans-Polyprenyl-Diphosphate Synthase PDSS2 3 4
  • Decaprenyl Pyrophosphate Synthase Subunit 2 3 4
  • Solanesyl-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
  • Decaprenyl-Diphosphate Synthase Subunit 2 4
  • Chromosome 6 Open Reading Frame 210 2
  • Candidate Tumor Suppressor Protein 4
  • EC 2.5.1.91 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 Ubiquinol biosynthesis 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

  • Heterotetrameric enzyme that catalyzes the condensation of farnesyl diphosphate (FPP), which acts as a primer, and isopentenyl diphosphate (IPP) to produce prenyl diphosphates of varying chain lengths and participates in the determination of the side chain of ubiquinone (PubMed:16262699). Supplies nona and decaprenyl diphosphate, the precursors for the side chain of the isoprenoid quinones ubiquinone-9 (Q9) and ubiquinone-10 (Q10) respectively (PubMed:16262699). The enzyme adds isopentenyl diphosphate molecules sequentially to farnesyl diphosphate with trans stereochemistry (PubMed:16262699). May play a role during cerebellar development (By similarity). May regulate mitochondrial respiratory chain function (By similarity).

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
Score
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 250.7 +0.1 81 3.2 BCLAF1 SP1 ZNF207 MYC ZNF600 ZNF580 ZNF592 POLR2A ATF3 ZSCAN16 PDSS2 lnc-SOBP-3 piR-46326 SOBP BEND3
GH06J107488 Promoter/Enhancer 2.3 EPDnew Ensembl ENCODE CraniofacialAtlas dbSUPER 10.8 -32.6 -32565 8.1 EZH2 ZNF600 ZNF580 ATF2 CEBPA ZNF10 ZSCAN16 ZIC2 ZBTB10 YY1 SOBP PDSS2 HSALNG0052510 RF00017-5206 SCML4
GH06J107220 Enhancer 0.8 Ensembl ENCODE 8.4 +238.2 238163 1.3 YY1 FOXA2 RXRA ZBTB33 BHLHE40 JUND HNF4A FOXA1 NR2F1 RAD21 PDSS2 lnc-BEND3-1 HSALNG0052496 RF00017-5199 BEND3 RF00017-5196
GH06J107337 Enhancer 0.6 Ensembl 10.6 +122.6 122580 1 ZNF316 NFE2 MAFG MAFK MAFF ZNF133 DPF2 ARID1B SMARCE1 KDM1A PDSS2 SOBP HSALNG0052505 HSALNG0052504 HSALNG0052506 RF00017-5196 BEND3
GH06J107409 Enhancer 0.4 Ensembl 16.6 +49.6 49580 1 SPI1 SCRT1 SCRT2 PDSS2 RF00017-5196 HSALNG0052507 HSALNG0052506 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

Latest Assembly
chr6:107,152,557-107,459,681
(GRCh38/hg38)
Size:
307,125 bases
Orientation:
Minus strand

Previous Assembly
chr6:107,473,766-107,780,768
(GRCh37/hg19 by Entrez Gene)
Size:
307,003 bases
Orientation:
Minus strand

chr6:107,473,761-107,780,768
(GRCh37/hg19 by Ensembl)
Size:
307,008 bases
Orientation:
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:
    Q86YH6-DLP1_HUMAN
    Recommended name:
    All trans-polyprenyl-diphosphate synthase PDSS2
    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 composed of 2 PDSS1/DPS1 and 2 PDSS2/DLP1 subunits.
    SequenceCaution:
    • Sequence=AAH29491.1; Type=Frameshift; Evidence={ECO:0000305};

    Alternative splice isoforms for PDSS2 Gene

    UniProtKB/Swiss-Prot:

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

Q86YH6

UniProtKB/Swiss-Prot:

DLP1_HUMAN :
  • Belongs to the FPP/GGPP synthase family.
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:
Heterotetrameric enzyme that catalyzes the condensation of farnesyl diphosphate (FPP), which acts as a primer, and isopentenyl diphosphate (IPP) to produce prenyl diphosphates of varying chain lengths and participates in the determination of the side chain of ubiquinone (PubMed:16262699). Supplies nona and decaprenyl diphosphate, the precursors for the side chain of the isoprenoid quinones ubiquinone-9 (Q9) and ubiquinone-10 (Q10) respectively (PubMed:16262699). The enzyme adds isopentenyl diphosphate molecules sequentially to farnesyl diphosphate with trans stereochemistry (PubMed:16262699). May play a role during cerebellar development (By similarity). May regulate mitochondrial respiratory chain function (By similarity).
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=2.5.1.91; Evidence={ECO:0000269|PubMed:16262699};.
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=(2E,6E)-farnesyl diphosphate + 6 isopentenyl diphosphate = all-trans-nonaprenyl diphosphate + 6 diphosphate; Xref=Rhea:RHEA:55364, ChEBI:CHEBI:33019, ChEBI:CHEBI:58391, ChEBI:CHEBI:128769, ChEBI:CHEBI:175763; Evidence={ECO:0000250|UniProtKB:Q33DR3};.

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<tm1b(EUCOMM)Hmgu>
  • Pdss2 Pdss2<tm1.1Dalg>

miRNA for PDSS2 Gene

miRTarBase miRNAs that target PDSS2

Inhibitory RNAs for research

  • 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

Mitochondrion.

Subcellular locations from

COMPARTMENTS
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 IBA,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:0021549 cerebellum development ISS --
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 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
  • all-trans-Decaprenyl diphosphoric acid
  • Decaprenyl diphosphoric acid
pyrophosphate
  • [(HO)2P(O)OP(O)(OH)2]
  • Acide diphosphorique
  • Diphosphorsaeure
  • H4P2O7
  • Pyrophosphoric acid
14000-31-8
genes like me logo Genes that share compounds with PDSS2: view

Transcripts for PDSS2 Gene

mRNA/cDNA for PDSS2 Gene

1 REFSEQ mRNAs :
13 NCBI additional mRNA sequence :
3 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

Inhibitory RNAs for research

  • 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
PDSS2

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:

Hs.745008

Evidence on tissue expression from TISSUES for PDSS2 Gene

  • Nervous system(3.2)
  • Kidney(2.4)
  • Muscle(2.3)
  • Liver(2.2)
  • Heart(2)

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

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
Systems:
  • cardiovascular
  • digestive
  • endocrine
  • immune
  • integumentary
  • lymphatic
  • nervous
  • reproductive
  • respiratory
  • skeletal muscle
  • urinary
Regions:
Head and neck:
  • brain
  • cerebellum
  • cranial nerve
  • ear
  • eye
  • head
  • pituitary gland
Thorax:
  • breast
  • heart
  • heart valve
  • lung
Abdomen:
  • kidney
  • liver
Pelvis:
  • ovary
  • penis
  • prostate
  • testicle
  • uterus
  • vagina
  • vulva
General:
  • 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

Primer products for research

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
Chimpanzee
(Pan troglodytes)
Mammalia PDSS2 29 30
  • 99.5 (n)
OneToOne
Dog
(Canis familiaris)
Mammalia PDSS2 29 30
  • 92.82 (n)
OneToOne
Cow
(Bos Taurus)
Mammalia PDSS2 29 30
  • 92.63 (n)
OneToOne
Mouse
(Mus musculus)
Mammalia Pdss2 29 16 30
  • 87.64 (n)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Pdss2 29
  • 85.88 (n)
Platypus
(Ornithorhynchus anatinus)
Mammalia PDSS2 30
  • 73 (a)
OneToOne
Oppossum
(Monodelphis domestica)
Mammalia PDSS2 30
  • 67 (a)
OneToOne
Chicken
(Gallus gallus)
Aves PDSS2 29 30
  • 75.58 (n)
OneToOne
Lizard
(Anolis carolinensis)
Reptilia PDSS2 30
  • 67 (a)
OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia pdss2 29
  • 68.09 (n)
Str.19088 29
Zebrafish
(Danio rerio)
Actinopterygii pdss2 29 30
  • 66.2 (n)
OneToOne
Rainbow Trout
(Oncorhynchus mykiss)
Actinopterygii Omy.3792 29
Fruit Fly
(Drosophila melanogaster)
Insecta CG10585 29 30
  • 49.72 (n)
OneToOne
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP006015 29
  • 49.24 (n)
Baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes COQ1 30
  • 18 (a)
OneToMany
Sea Squirt
(Ciona savignyi)
Ascidiacea CSA.2932 30
  • 31 (a)
OneToOne
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

ENSEMBL:
Gene Tree for PDSS2 (if available)
TreeFam:
Gene Tree for PDSS2 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for PDSS2: view image
Alliance of Genome Resources:
Additional Orthologs for PDSS2

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, 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
1028164 Pathogenic: Coenzyme Q10 deficiency, primary, 3 107,459,156(-) T/TG
NM_020381.4(PDSS2):c.129dup (p.Lys44fs)
FRAMESHIFT
1030705 Uncertain Significance: Coenzyme Q10 deficiency, primary, 3 107,154,668(-) G/T
NM_020381.4(PDSS2):c.1151C>A (p.Ala384Asp)
MISSENSE
1032839 Uncertain Significance: Coenzyme Q10 deficiency, primary, 3 107,212,148(-) C/T
NM_020381.4(PDSS2):c.837G>A (p.Met279Ile)
MISSENSE
932592 Likely Benign: not provided 107,459,238(-) G/A
NM_020381.4(PDSS2):c.48C>T (p.Ala16=)
SYNONYMOUS
rs1057521366 Likely Benign: not specified 107,210,532(-) G/A
NM_020381.4(PDSS2):c.915C>T (p.Thr305=)
SYNONYMOUS

dbSNP identifiers (rs#s) for variants without ClinVar clinical significance for PDSS2 Gene

All consequence types are included: molecular consequences (e.g. missense, synonymous), and location-based (e.g. intron, upstream).

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)
PDSS2
SNPedia medical, phenotypic, and genealogical associations of SNPs for
PDSS2
Leiden Open Variation Database (LOVD)
PDSS2

SNP Genotyping and Copy Number Assays for research

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

Disorders for PDSS2 Gene

MalaCards: The human disease database

(20) MalaCards diseases for PDSS2 Gene - From: OMI, CVR, GTR, ORP, SWI, COP, and GCD

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
coenzyme q10 deficiency disease
  • coenzyme q10 deficiency, primary
- elite association - COSMIC cancer census association via MalaCards
Search PDSS2 in MalaCards View complete list of genes associated with diseases

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 variants affecting the gene represented in this entry.

Additional Disease Information for PDSS2

Human Genome Epidemiology Navigator
(HuGE)
Atlas
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
Open Targets Platform
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. Leigh syndrome with nephropathy and CoQ10 deficiency due to decaprenyl diphosphate synthase subunit 2 (PDSS2) mutations. (PMID: 17186472) López LC … Hirano M (American journal of human genetics 2006) 4 22 72
  2. Characterization of solanesyl and decaprenyl diphosphate synthases in mice and humans. (PMID: 16262699) Saiki R … Kawamukai M (The FEBS journal 2005) 2 3 4
  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 40
  4. Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression. (PMID: 20877624) Hendrickson SL … O'Brien SJ (PloS one 2010) 3 40
  5. 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 40

Products for PDSS2 Gene

Sources for PDSS2 Gene