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PDSS2 (prenyl (decaprenyl) diphosphate synthase, subunit 2)

Written2014-07Ping Chen, Qi Chen
Department of genetics, Molecular Biology, Xi'an Jiaotong University School of Medicine, Xi'an 710061, China (PC); Department of Pharmacology, Toxicology,, Therapeutics, University of Kansas Medical Center, Kansas City, KS, 66160, USA (QC)

(Note : for Links provided by Atlas : click)

Identity

Alias_namesC6orf210
chromosome 6 open reading frame 210
Alias_symbol (synonym)bA59I9.3
Other aliasCOQ10D3
DLP1
hDLP1
HGNC (Hugo) PDSS2
LocusID (NCBI) 57107
Atlas_Id 890
Location 6q21  [Link to chromosome band 6q21]
Location_base_pair Starts at 107152557 and ends at 107459575 bp from pter ( according to hg19-Feb_2009)  [Mapping PDSS2.png]
Local_order According to NCBI Map Viewer, several genes flank PDSS2 in the order from centromere to telomere direction on chromosome: 6; NC_000006.11:
- C6orf203, chromosome 6 open reading frame 203, location: 6q21;
- BEND3, BEN domain containing 3, location: 6q21;
- RPS24P12, ribosomal protein S24 pseudogene 12, location: 6q21;
- PDSS2, 6q21;
- SOBP, sineoculis binding protein homolog (Drosophila), location: 6q21.
Fusion genes
(updated 2017)
Data from Atlas, Mitelman, Cosmic Fusion, Fusion Cancer, TCGA fusion databases with official HUGO symbols (see references in chromosomal bands)
AP1S3 (2q36.1) / PDSS2 (6q21)ATG5 (6q21) / PDSS2 (6q21)MAN1A1 (6q22.31) / PDSS2 (6q21)
PDSS2 (6q21) / PDSS2 (6q21)PDSS2 (6q21) / SMARCA4 (19p13.2)

DNA/RNA

 
  Diagram of the PDSS2 gene (isoform1/Dlp1). Exons are represented by open boxes (in yellow). Exons 1 to 8 are from the 5' to 3' direction.
Description PDSS2 gene has 307.02 kb of genomic DNA on the reverse strand, containing 8 exons.
Transcription The full transcript is a 3568 bp mRNA with 1200 bp open reading frame. This gene has 4 transcripts (splice variants, PDSS2-001 to 004). All transcripts are protein coding. The length of the 4 splice variants are 3540 bp (399 aa), 1338 bp (297 aa), 1236 bp (240 aa) and 241 bp (80 aa) respectively.

Protein

Note Human decaprenyl diphosphate synthase is a hetero-tetramer composed of DPS1 (PDSS1; NM_014317) and DLP1 (PDSS2) subunits that produces the ubiquinone coenzyme Q10.
The isoprenoid chain of ubiquinone (coenzyme Q) varies in length between species and is determined by trans-polyprenyl diphosphate synthase.
Other names: decaprenyl pyrophosphate synthetase subunit 2; prenyl diphosphate synthase, subunit 2; subunit 2 of decaprenyl diphosphate synthase.
 
  Diagram of 2 isoforms of PDSS2 protein (DLP1and DLP2).
Description The complete translation product is a 44 kDa protein containing 399 amino acids. It is the non-catalyzing subunit of prenyl diphosphate synthase, the first enzyme in CoQ10 biosynthesis. However it is essential for the activity of the enzyme. Its mutations could cause CoQ10 deficiency and contributes to nephritic and metabolic diseases and neuromuscular defects.
It is also a candidate tumor suppressor protein, and was found down-regulated in melanoma, gastric cancer and non-small-cell lung cancers.
A mutated protein was identified by Saiki et al. (2005) that contains the 7 conserved domains typically found in all trans-prenyl diphosphate synthases, but it lacks DDxxD motifs which could be involved in the catalytic mechanism and/or the binding of the substrates.
Expression According to AceView, this gene is expressed at high level, 2.1 times the average genes, observed from 226 cDNA clones.
Northern blot analysis shows PDSS2 expresses two transcripts: 3.5 and 1.2 kb. The 3.5-kb transcript was expressed strongly in heart, prostate, and testis; moderately in brain, kidney, liver, lung, spleen, duodenum, esophagus, pancreas, thymus, and thyroid; and weakly in colon, muscle, small intestine, salivary gland, and uterus, and was absent in stomach, peripheral blood lymphocyte, and urinary bladder. Expression of the 1.2-kb transcript was detected in heart, kidney, liver, pancreas, prostate, testis, thymus, and thyroid.
Localisation Cytoplasm, organelle, mitochondria.
Function It is the 2nd subunit of decaprenyl diphosphate synthase, which catalyzes the first and critical step in coenzyme Q biosynthesis: the formation of all trans-polyprenyl pyrophosphates from isopentyl diphosphate in the assembly of polyisoprenoid side chains. The step is critical in coenzyme Q biosynthesis. It is not the catalytic subunit but is essential for the catalytic activity.
Related super-pathways: Metabolic pathways, apoptosis, geranyldiphosphate biosynthesis, trans-octaprenyl transferase activity and protein heterodimerization activity.
Protein interaction: PDSS2 protein can interact with apoptotic protease-activating factor 1 (APAF1, DIP27624N), which mediates the cytochrome c-dependent autocatalytic activation of pro-caspase-9 (Apaf-3), leading to the ATP required activation of caspase-3 and apoptosis. Result from in silicon pathway analysis showed that PDSS2 protein could interact with hepatocyte nuclear factor 4 alpha (HNF4a), a nuclear transcription factor which regulates the expression of many genes involved in cell growth and proliferation.
Homology PDSS2 gene is conserved in human, Rhesus monkey, dog, cow, mouse, rat, chicken, zebrafish, fruit fly, and mosquito.

Mutations

Note PDSS2, GLN322TER [dbSNP:rs118203955]
PDSS2, SER382LEU [dbSNP:rs118203956]
Disease: Primary coenzyme Q10 deficiency-3 (COQ10D3; OMIM614652).
Two compound heterozygous mutations in the PDSS2 gene were identified by López et al. (2006) in an infant with fatal encephalomyopathy and nephrotic syndrome due to coenzyme Q10 deficiency-3 (COQ10D3; 614652): 2 mutations in the PDSS2 gene: a 964C-T transition resulting in a gln322-to-ter (Q322X,610564.0001) substitution inherited from the unaffected father; and a 1145C-T transition resulting in a ser382-to-leu (S382L; 610564.0002) substitution in the seventh conserved domain inherited from the unaffected mother (López et al., 2006).
In fibroblasts derived from the patient reported by López et al. (2006). CoQ10 levels were decreased to 22.4% of normal, and the cells showed reduced ATP levels (50% of controls), but no increase in reactive oxygen species, signs of oxidative stress, increased antioxidant defense markers,or oxidative stress-induced cell death (Quinzii et al., 2008; Quinzii et al., 2010). This suggested that the pathology caused by these PDSS2 mutations was related to the marked bioenergetic defect, but not to oxidative stress. The very low mitochondrial respiratory activity may even confer some resistance to stress-induced apoptosis.

PDSS2 polymorphisms
Disease: Leigh syndrome with nephropathy
A pair of proxy SNPs of PDSS2 was significantly associated with podocyte diseases, and patients homozygous for one PDSS2 haplotype had a strongly increased risk for podocyte disease. A deficiency of coenzyme Q10 is manifested in lymphoblastoid cell lines derived from focal segmental glomerulosclerosis patients (Gasser et al., 2013).

Implicated in

Note
  
Entity Gastric cancer
Note PDSS2 may be a potent gastric cancer growth suppressor in vitro acting through apoptosis pathways. By transfecting PDSS2 to gastric cancer cell line SGC7901, Chen et al. found that expression of PDSS2 can induce apoptosis in human gastric cancer SGC7901 cells, block cell at G0/G1 stage, and inhibit cell proliferation.
Expression of PDSS2 is downregulated in human gastric cancer (84.6%, 33/39), and the degree of expression degraded with the increase of malignant degree of tumor. In poorly differentiated gastric cancer, the negative or low expression of PDSS2 was 35% (7/20) or 55% (11/20) and in moderately differentiated gastric cancer, it was 10.5% (2/19) or 68.4% (13/19), respectively (Chen et al., 2009).
  
  
Entity Melanoma
Note Down-regulation of PDSS2 was observed in 59 of 87 (67.8%) primary melanomas, which was significantly higher than that in benign nevi (7 of 66, 10.6%). An overexpression of the PDSS2 in UACC-903 cells could inhibit tumor cell growth, decrease the colony-forming ability in soft agar, and totally abrogate the tumorigenicity of UACC-903 in nude mice. Fung et al. proposed that PDSS2 is a novel tumor suppressor gene that plays an important role in the development of malignant melanoma (Fung et al., 2009).
The sequence of PDSS2 (AF254956) was firstly submitted to National Cancer for Biotechnology Information by the authors in 2000 and was then named as C6orf210 by Human Genome Organization. Then C6orf210 was found to be important in determining the length of the side chain of ubiquinone in mammals and was named as PDSS2 (Saiki et al., 2005).
  
  
Entity Non-small cell lung cancer
Note Non-small cell carcinomas (NSCLC) are divided into non-small cell lung cancer accounts for approximately 85% of all lung cancers. It is divided further into three main categories: adenocarcinoma, squamous cell carcinoma (SCC), and large cell carcinoma histologies. 6q16.3-21 LOH has been found in 78% of SCLCs. PDSS2 gene is located in the frequent LOH region of 6q16.3-21, implying for its potential role as tumor suppressor. Loss of PDSS2 expression is associated with non-small cell lung cancer. Decrease in PDSS2 expression was more severe in poorly and poor-to-moderately differentiated lung cancers, more in higher pathological stage and in patients with lymph node metastasis. The decrease in PDSS2 expression in tumor tissues was not related to sex or histological type of NSCLC, but was related to smoking history (Chen et al., 2013).
The PDSS2 gene has low expression levels in human lung cancer cell lines. The forced PDSS2 overexpression caused massive cell death through apoptotic pathways and significantly inhibited colony formation in the NCI-H1299 lung cancer cell line. At the same time, repression of PDSS2 expression by siRNA enhanced the growth of a noncancerous lung epithelial cell line MRC-5. There was an inverse correlation between PDSS2 expression and gelsolin expression, which is known to inhibit apoptosis and enhance cell invasion and metastasis. The ability of PDSS2 to repress gelsolin might contribute to its tumor-suppressing activity. However, PDSS2 did not influence the sensitivity of the lung cancer cells to chemotherapeutic drugs. Taken together, PDSS2 has tumor-suppressing activity in human lung cancer cells by enhancing apoptosis and inhibiting tumorigenic capacity (Chen et al., 2014).
 
Diagram of PDSS2 possible pathway involved in produce lung cancer cells death through apoptosis.
  

Breakpoints

Note Studies have reported the potential of the PDSS2 gene as a tumor suppressor in gastric cancer, lung cancer, and melanoma. First, the PDSS2 gene is located in the chromosome region of 6q16.3-21, where frequent LOH occurs in lung cancers, implying the loss of PDSS2 expression and function in lung cancers. Second, PDSS2 protein is essential for the enzyme activity of prenyl diphosphate synthase, which is a critical enzyme in CoQ10 biosynthesis. Decreased PDSS2 level can lead to CoQ10 deficiency. CoQ10 is the predominant human form of endogenous ubiquinone, and plays a vital role in the mitochondrial respiratory chain as the carrier of electrons from complexes I and II to complex III. Its reduced form is one of the most potent lipophilic antioxidants in all cell membranes. CoQ10 also participates in pyrimidine nucleoside biosynthesis and may modulate apoptosis and the mitochondrial uncoupling protein. By depletion of CoQ10, decrease in PDSS2 may contribute toward the initiation and progression of tumor through deregulated mitochondria function and increased intracellular oxidative stress.
Overexpression of PDSS2 induced apoptosis in cancer cells. The mechanism is not clear. A possible mechanism could be that CoQs including CoQ10 can selectively inhibit DNA topoisomerase II (topo-II) activity and eukaryotic DNA polymerase-γ, which is a mitochondrial DNA polymerase, and thus inhibit DNA synthesis and mitochondrial proliferation and consequently induce cancer cell death.
An inverse correlation of PDSS2 expression and gelsolin expression was reported. Gelsolin has been shown to inhibit apoptosis by blocking mitochondrial membrane potential loss and cytochrome c release, thus stabilizing mitochondria. Repression of gelsolin by PDSS2 may counteract the mitochondrial stabilization, and thus induce apoptosis in cancer cells.
PDSS2 does not influence the chemosensitivity of lung cancer cells.

Bibliography

Decrease of PDSS2 expression, a novel tumor suppressor, in non-small cell lung cancer.
Chen P, Yu J, Knecht J, Chen Q.
Cancer Epidemiol. 2013 Apr;37(2):166-71. doi: 10.1016/j.canep.2012.12.004. Epub 2013 Jan 10.
PMID 23312889
 
The tumor-suppressing activity of the prenyl diphosphate synthase subunit 2 gene in lung cancer cells.
Chen P, Zhang Y, Polireddy K, Chen Q.
Anticancer Drugs. 2014 Aug;25(7):790-8. doi: 10.1097/CAD.0000000000000105.
PMID 24608273
 
Anticancer activity of PDSS2, prenyl diphosphate synthase, subunit 2, in gastric cancer tissue and the SGC7901 cell line.
Chen P, Zhao SH, Chu YL, Xu K, Zhu L, Wu Y, Song J, Cao CX, Xue X, Niu YY.
Anticancer Drugs. 2009 Feb;20(2):141-8. doi: 10.1097/CAD.0b013e32832016a9.
PMID 19209031
 
COQ2 nephropathy: a newly described inherited mitochondriopathy with primary renal involvement.
Diomedi-Camassei F, Di Giandomenico S, Santorelli FM, Caridi G, Piemonte F, Montini G, Ghiggeri GM, Murer L, Barisoni L, Pastore A, Muda AO, Valente ML, Bertini E, Emma F.
J Am Soc Nephrol. 2007 Oct;18(10):2773-80. Epub 2007 Sep 12.
PMID 17855635
 
Identification and characterization of a novel melanoma tumor suppressor gene on human chromosome 6q21.
Fung JM, Smith R, Brown MA, Lau SH, Xie D, Lau GK, Guan XY.
Clin Cancer Res. 2009 Feb 1;15(3):797-803. doi: 10.1158/1078-0432.CCR-08-1472.
PMID 19188149
 
Focal segmental glomerulosclerosis is associated with a PDSS2 haplotype and, independently, with a decreased content of coenzyme Q10.
Gasser DL, Winkler CA, Peng M, An P, McKenzie LM, Kirk GD, Shi Y, Xie LX, Marbois BN, Clarke CF, Kopp JB.
Am J Physiol Renal Physiol. 2013 Oct 15;305(8):F1228-38. doi: 10.1152/ajprenal.00143.2013. Epub 2013 Aug 7.
PMID 23926186
 
Characterization of a complex chromosome rearrangement involving 6q in a melanoma cell line by chromosome microdissection.
Guan XY, Zhang HE, Zhou H, Sham JS, Fung JM, Trent JM.
Cancer Genet Cytogenet. 2002 Apr 1;134(1):65-70.
PMID 11996799
 
Loci associated with N-glycosylation of human immunoglobulin G show pleiotropy with autoimmune diseases and haematological cancers.
Lauc G, Huffman JE, Pucic M, Zgaga L, Adamczyk B, Muzinic A, Novokmet M, Polasek O, Gornik O, Kristic J, Keser T, Vitart V, Scheijen B, Uh HW, Molokhia M, Patrick AL, McKeigue P, Kolcic I, Lukic IK, Swann O, van Leeuwen FN, Ruhaak LR, Houwing-Duistermaat JJ, Slagboom PE, Beekman M, de Craen AJ, Deelder AM, Zeng Q, Wang W, Hastie ND, Gyllensten U, Wilson JF, Wuhrer M, Wright AF, Rudd PM, Hayward C, Aulchenko Y, Campbell H, Rudan I.
PLoS Genet. 2013;9(1):e1003225. doi: 10.1371/journal.pgen.1003225. Epub 2013 Jan 31.
PMID 23382691
 
Leigh syndrome with nephropathy and CoQ10 deficiency due to decaprenyl diphosphate synthase subunit 2 (PDSS2) mutations.
Lopez LC, Schuelke M, Quinzii CM, Kanki T, Rodenburg RJ, Naini A, Dimauro S, Hirano M.
Am J Hum Genet. 2006 Dec;79(6):1125-9. Epub 2006 Oct 27.
PMID 17186472
 
Cerebellar defects in Pdss2 conditional knockout mice during embryonic development and in adulthood.
Lu S, Lu LY, Liu MF, Yuan QJ, Sham MH, Guan XY, Huang JD.
Neurobiol Dis. 2012 Jan;45(1):219-33. doi: 10.1016/j.nbd.2011.08.006. Epub 2011 Aug 10.
PMID 21871565
 
Genotype-phenotype correlations in non-Finnish congenital nephrotic syndrome.
Machuca E, Benoit G, Nevo F, Tete MJ, Gribouval O, Pawtowski A, Brandstrom P, Loirat C, Niaudet P, Gubler MC, Antignac C.
J Am Soc Nephrol. 2010 Jul;21(7):1209-17. doi: 10.1681/ASN.2009121309. Epub 2010 May 27.
PMID 20507940
 
Primary coenzyme Q deficiency in Pdss2 mutant mice causes isolated renal disease.
Peng M, Falk MJ, Haase VH, King R, Polyak E, Selak M, Yudkoff M, Hancock WW, Meade R, Saiki R, Lunceford AL, Clarke CF, Gasser DL.
PLoS Genet. 2008 Apr 25;4(4):e1000061. doi: 10.1371/journal.pgen.1000061.
PMID 18437205
 
Reactive oxygen species, oxidative stress, and cell death correlate with level of CoQ10 deficiency.
Quinzii CM, Lopez LC, Gilkerson RW, Dorado B, Coku J, Naini AB, Lagier-Tourenne C, Schuelke M, Salviati L, Carrozzo R, Santorelli F, Rahman S, Tazir M, Koenig M, DiMauro S, Hirano M.
FASEB J. 2010 Oct;24(10):3733-43. doi: 10.1096/fj.09-152728. Epub 2010 May 21.
PMID 20495179
 
Characterization of solanesyl and decaprenyl diphosphate synthases in mice and humans.
Saiki R, Nagata A, Kainou T, Matsuda H, Kawamukai M.
FEBS J. 2005 Nov;272(21):5606-22.
PMID 16262699
 

Citation

This paper should be referenced as such :
P Chen, Q Chen
PDSS2 (prenyl (decaprenyl) diphosphate synthase, subunit 2)
Atlas Genet Cytogenet Oncol Haematol. 2015;19(4):286-290.
Free journal version : [ pdf ]   [ DOI ]
On line version : http://AtlasGeneticsOncology.org/Genes/PDSS2ID890ch6q21.html


External links

Nomenclature
HGNC (Hugo)PDSS2   23041
Cards
AtlasPDSS2ID890ch6q21
Entrez_Gene (NCBI)PDSS2  57107  decaprenyl diphosphate synthase subunit 2
AliasesC6orf210; COQ10D3; DLP1; bA59I9.3; 
hDLP1
GeneCards (Weizmann)PDSS2
Ensembl hg19 (Hinxton)ENSG00000164494 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000164494 [Gene_View]  chr6:107152557-107459575 [Contig_View]  PDSS2 [Vega]
ICGC DataPortalENSG00000164494
TCGA cBioPortalPDSS2
AceView (NCBI)PDSS2
Genatlas (Paris)PDSS2
WikiGenes57107
SOURCE (Princeton)PDSS2
Genetics Home Reference (NIH)PDSS2
Genomic and cartography
GoldenPath hg38 (UCSC)PDSS2  -     chr6:107152557-107459575 -  6q21   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)PDSS2  -     6q21   [Description]    (hg19-Feb_2009)
EnsemblPDSS2 - 6q21 [CytoView hg19]  PDSS2 - 6q21 [CytoView hg38]
Mapping of homologs : NCBIPDSS2 [Mapview hg19]  PDSS2 [Mapview hg38]
OMIM610564   614652   
Gene and transcription
Genbank (Entrez)AB210839 AF086233 AF254956 AJ420575 AK000293
RefSeq transcript (Entrez)NM_020381
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)PDSS2
Cluster EST : UnigeneHs.745008 [ NCBI ]
CGAP (NCI)Hs.745008
Alternative Splicing GalleryENSG00000164494
Gene ExpressionPDSS2 [ NCBI-GEO ]   PDSS2 [ EBI - ARRAY_EXPRESS ]   PDSS2 [ SEEK ]   PDSS2 [ MEM ]
Gene Expression Viewer (FireBrowse)PDSS2 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevestigatorExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)57107
GTEX Portal (Tissue expression)PDSS2
Human Protein AtlasENSG00000164494-PDSS2 [pathology]   [cell]   [tissue]
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ86YH6   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ86YH6  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ86YH6
Splice isoforms : SwissVarQ86YH6
Catalytic activity : Enzyme2.5.1.91 [ Enzyme-Expasy ]   2.5.1.912.5.1.91 [ IntEnz-EBI ]   2.5.1.91 [ BRENDA ]   2.5.1.91 [ KEGG ]   
PhosPhoSitePlusQ86YH6
Domains : Interpro (EBI)Isoprenoid_synthase_dom    Polyprenyl_synt   
Domain families : Pfam (Sanger)polyprenyl_synt (PF00348)   
Domain families : Pfam (NCBI)pfam00348   
Conserved Domain (NCBI)PDSS2
DMDM Disease mutations57107
Blocks (Seattle)PDSS2
SuperfamilyQ86YH6
Human Protein Atlas [tissue]ENSG00000164494-PDSS2 [tissue]
Peptide AtlasQ86YH6
HPRD12879
IPIIPI00384708   IPI00643460   IPI00908713   IPI00641748   
Protein Interaction databases
DIP (DOE-UCLA)Q86YH6
IntAct (EBI)Q86YH6
FunCoupENSG00000164494
BioGRIDPDSS2
STRING (EMBL)PDSS2
ZODIACPDSS2
Ontologies - Pathways
QuickGOQ86YH6
Ontology : AmiGOtrans-hexaprenyltranstransferase activity  mitochondrial matrix  cytosol  ubiquinone biosynthetic process  ubiquinone biosynthetic process  ubiquinone biosynthetic process  isoprenoid biosynthetic process  protein heterodimerization activity  trans-octaprenyltranstransferase activity  regulation of body fluid levels  protein heterotetramerization  transferase complex  
Ontology : EGO-EBItrans-hexaprenyltranstransferase activity  mitochondrial matrix  cytosol  ubiquinone biosynthetic process  ubiquinone biosynthetic process  ubiquinone biosynthetic process  isoprenoid biosynthetic process  protein heterodimerization activity  trans-octaprenyltranstransferase activity  regulation of body fluid levels  protein heterotetramerization  transferase complex  
Pathways : KEGGTerpenoid backbone biosynthesis   
REACTOMEQ86YH6 [protein]
REACTOME PathwaysR-HSA-2142789 [pathway]   
NDEx NetworkPDSS2
Atlas of Cancer Signalling NetworkPDSS2
Wikipedia pathwaysPDSS2
Orthology - Evolution
OrthoDB57107
GeneTree (enSembl)ENSG00000164494
Phylogenetic Trees/Animal Genes : TreeFamPDSS2
HOVERGENQ86YH6
HOGENOMQ86YH6
Homologs : HomoloGenePDSS2
Homology/Alignments : Family Browser (UCSC)PDSS2
Gene fusions - Rearrangements
Fusion : MitelmanMAN1A1/PDSS2 [6q22.31/6q21]  [t(6;6)(q21;q22)]  
Fusion : MitelmanPDSS2/SMARCA4 [6q21/19p13.2]  [t(6;19)(q21;p13)]  
Fusion: TCGA_MDACCATG5 6q21 PDSS2 6q21 GBM
Fusion: TCGA_MDACCMAN1A1 6q22.31 PDSS2 6q21 BRCA
Fusion: TCGA_MDACCPDSS2 6q21 SMARCA4 19p13.2 BRCA
Tumor Fusion PortalPDSS2
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerPDSS2 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)PDSS2
dbVarPDSS2
ClinVarPDSS2
1000_GenomesPDSS2 
Exome Variant ServerPDSS2
ExAC (Exome Aggregation Consortium)ENSG00000164494
GNOMAD BrowserENSG00000164494
Genetic variants : HAPMAP57107
Genomic Variants (DGV)PDSS2 [DGVbeta]
DECIPHERPDSS2 [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisPDSS2 
Mutations
ICGC Data PortalPDSS2 
TCGA Data PortalPDSS2 
Broad Tumor PortalPDSS2
OASIS PortalPDSS2 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICPDSS2  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDPDSS2
LOVD (Leiden Open Variation Database)Whole genome datasets
LOVD (Leiden Open Variation Database)LOVD - Leiden Open Variation Database
LOVD (Leiden Open Variation Database)LOVD 3.0 shared installation
LOVD (Leiden Open Variation Database)MSeqDR-LSDB Mitochondrial Disease Locus Specific Database
BioMutasearch PDSS2
DgiDB (Drug Gene Interaction Database)PDSS2
DoCM (Curated mutations)PDSS2 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)PDSS2 (select a term)
intoGenPDSS2
NCG5 (London)PDSS2
Cancer3DPDSS2(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM610564    614652   
Orphanet19815   
DisGeNETPDSS2
MedgenPDSS2
Genetic Testing Registry PDSS2
NextProtQ86YH6 [Medical]
TSGene57107
GENETestsPDSS2
Target ValidationPDSS2
Huge Navigator PDSS2 [HugePedia]
snp3D : Map Gene to Disease57107
BioCentury BCIQPDSS2
ClinGenPDSS2
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD57107
Chemical/Pharm GKB GenePA134957167
Clinical trialPDSS2
Miscellaneous
canSAR (ICR)PDSS2 (select the gene name)
Probes
Litterature
PubMed26 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMinePDSS2
EVEXPDSS2
GoPubMedPDSS2
iHOPPDSS2
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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