This gene encodes an enzyme that catalyzes the production of geranyl pyrophosphate and farnesyl pyrophosphate from isopentenyl pyrophosphate and dimethylallyl pyrophosphate. The resulting product, farnesyl pyrophosphate, is a key intermediate in cholesterol and sterol biosynthesis, a substrate for protein farnesylation and geranylgeranylation, and a ligand or agonist for certai... See more...

Aliases for FDPS Gene

Aliases for FDPS Gene

  • Farnesyl Diphosphate Synthase 2 3 4 5
  • Farnesyl Pyrophosphate Synthetase, Dimethylallyltranstransferase, Geranyltranstransferase 2 3
  • (2E,6E)-Farnesyl Diphosphate Synthase 3 4
  • Farnesyl Pyrophosphate Synthase 3 4
  • FPP Synthase 3 4
  • FPS 3 4
  • Dimethylallyltranstransferase 4
  • Geranyltranstransferase 4
  • FPP Synthetase 3
  • EC 2.5.1.10 4
  • EC 2.5.1.1 4
  • KIAA1293 4
  • POROK9 3
  • FPPS 3

External Ids for FDPS Gene

Previous GeneCards Identifiers for FDPS Gene

  • GC01P153136
  • GC01P151019
  • GC01P152056
  • GC01P152495
  • GC01P152091
  • GC01P153545
  • GC01P155278
  • GC01P126640

Summaries for FDPS Gene

Entrez Gene Summary for FDPS Gene

  • This gene encodes an enzyme that catalyzes the production of geranyl pyrophosphate and farnesyl pyrophosphate from isopentenyl pyrophosphate and dimethylallyl pyrophosphate. The resulting product, farnesyl pyrophosphate, is a key intermediate in cholesterol and sterol biosynthesis, a substrate for protein farnesylation and geranylgeranylation, and a ligand or agonist for certain hormone receptors and growth receptors. Drugs that inhibit this enzyme prevent the post-translational modifications of small GTPases and have been used to treat diseases related to bone resorption. Multiple pseudogenes have been found on chromosomes 1, 7, 14, 15, 21 and X. Multiple transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, Oct 2008]

GeneCards Summary for FDPS Gene

FDPS (Farnesyl Diphosphate Synthase) is a Protein Coding gene. Diseases associated with FDPS include Porokeratosis 9, Multiple Types and Porokeratosis. Among its related pathways are Bisphosphonate Pathway, Pharmacodynamics and Terpenoid backbone biosynthesis. Gene Ontology (GO) annotations related to this gene include geranyltranstransferase activity.

UniProtKB/Swiss-Prot Summary for FDPS Gene

  • Key enzyme in isoprenoid biosynthesis which catalyzes the formation of farnesyl diphosphate (FPP), a precursor for several classes of essential metabolites including sterols, dolichols, carotenoids, and ubiquinones. FPP also serves as substrate for protein farnesylation and geranylgeranylation. Catalyzes the sequential condensation of isopentenyl pyrophosphate with the allylic pyrophosphates, dimethylallyl pyrophosphate, and then with the resultant geranylpyrophosphate to the ultimate product farnesyl pyrophosphate.

Additional gene information for FDPS Gene

No data available for CIViC Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for FDPS Gene

Genomics for FDPS Gene

GeneHancer (GH) Regulatory Elements for FDPS Gene

Promoters and enhancers for FDPS 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
GH01J155307 Promoter/Enhancer 2.3 EPDnew Ensembl ENCODE CraniofacialAtlas 500.7 +0.4 447 4 ZBTB40 ZNF217 EP300 CTCF SIN3A NRF1 MYC POLR2G USF1 SP1 FDPS PKLR lnc-PKLR-1 GBA GON4L HCN3 CLK2 FAM189B THBS3 KHDC4
GH01J155304 Promoter/Enhancer 1.1 EPDnew ENCODE 500.7 -2.9 -2940 2.1 POLR2G TGIF2 SKI POLR2A NFIC SAP130 MBD1 DRAP1 SMAD4 BCL6 FDPS lnc-FDPS-1 piR-52079-018 HCN3 GBA PKLR
GH01J155240 Promoter/Enhancer 2.5 EPDnew Ensembl ENCODE CraniofacialAtlas dbSUPER 11.7 -65.8 -65805 5.5 RXRA ZBTB40 ZNF217 EP300 CTCF ZSCAN5C SIN3A NRF1 TCF12 POLR2G GBA lnc-FAM189B-2 KHDC4 GON4L ENSG00000271267 CLK2 MSTO1 MSTO2P RUSC1-AS1 THBS3
GH01J155272 Promoter/Enhancer 2.2 EPDnew Ensembl ENCODE CraniofacialAtlas 12.3 -35.5 -35547 2.8 HNRNPK ZBTB40 EP300 SIN3A NRF1 MYC POLR2G USF1 NCOR1 PHF8 lnc-HCN3-2 CLK2 GBA PKLR FDPS RUSC1 RUSC1-AS1 MIR555 ASH1L THBS3
GH01J155206 Promoter/Enhancer 2.4 EPDnew Ensembl ENCODE CraniofacialAtlas dbSUPER 10.4 -99.6 -99578 5.5 EP300 ZBTB40 ZNF217 CTCF SIN3A NRF1 TCF12 POLR2G NCOR1 GTF2E2 THBS3 MTX1 KRTCAP2 TRIM46 FAM189B SCAMP3 LMNA DAP3 FDPS POU5F1P4
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around FDPS on UCSC Golden Path with GeneCards custom track

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for FDPS

Top Transcription factor binding sites by QIAGEN in the FDPS gene promoter:
  • NF-kappaB
  • NF-kappaB1
  • SEF-1 (1)
  • YY1

Genomic Locations for FDPS Gene

Genomic Locations for FDPS Gene
chr1:155,308,748-155,320,666
(GRCh38/hg38)
Size:
11,919 bases
Orientation:
Plus strand
chr1:155,278,539-155,290,457
(GRCh37/hg19)
Size:
11,919 bases
Orientation:
Plus strand

Genomic View for FDPS Gene

Genes around FDPS on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
FDPS Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for FDPS Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for FDPS Gene

Proteins for FDPS Gene

  • Protein details for FDPS Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P14324-FPPS_HUMAN
    Recommended name:
    Farnesyl pyrophosphate synthase
    Protein Accession:
    P14324
    Secondary Accessions:
    • D3DV91
    • E9PCI9
    • Q96G29

    Protein attributes for FDPS Gene

    Size:
    419 amino acids
    Molecular mass:
    48275 Da
    Cofactor:
    Name=Mg(2+); Xref=ChEBI:CHEBI:18420;
    Quaternary structure:
    • Homodimer. Interacts with RSAD2.
    • (Microbial infection) Interacts with HTLV-1 protein p13(II).
    SequenceCaution:
    • Sequence=BAA03523.2; Type=Erroneous initiation; Note=Extended N-terminus.; Evidence={ECO:0000305};

    Three dimensional structures from OCA and Proteopedia for FDPS Gene

    Alternative splice isoforms for FDPS Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for FDPS Gene

Post-translational modifications for FDPS Gene

  • Ubiquitination at Lys80, Lys112, Lys123, Lys142, Lys187, Lys210, Lys332, Lys353, and Lys359
  • Modification sites at PhosphoSitePlus

No data available for DME Specific Peptides for FDPS Gene

Domains & Families for FDPS Gene

Gene Families for FDPS Gene

IUPHAR :
Human Protein Atlas (HPA):
  • Disease related genes
  • Enzymes
  • FDA approved drug targets
  • Plasma proteins
  • Predicted intracellular proteins

Protein Domains for FDPS Gene

Blocks:
  • Polyprenyl synthetase
InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for FDPS Gene

GenScript: Design optimal peptide antigens:
  • Geranyltranstransferase (FPPS_HUMAN)

Graphical View of Domain Structure for InterPro Entry

P14324

UniProtKB/Swiss-Prot:

FPPS_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 FDPS: view

Function for FDPS Gene

Molecular function for FDPS Gene

UniProtKB/Swiss-Prot Function:
Key enzyme in isoprenoid biosynthesis which catalyzes the formation of farnesyl diphosphate (FPP), a precursor for several classes of essential metabolites including sterols, dolichols, carotenoids, and ubiquinones. FPP also serves as substrate for protein farnesylation and geranylgeranylation. Catalyzes the sequential condensation of isopentenyl pyrophosphate with the allylic pyrophosphates, dimethylallyl pyrophosphate, and then with the resultant geranylpyrophosphate to the ultimate product farnesyl pyrophosphate.
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=dimethylallyl diphosphate + isopentenyl diphosphate = (2E)-geranyl diphosphate + diphosphate; Xref=Rhea:RHEA:22408, ChEBI:CHEBI:33019, ChEBI:CHEBI:57623, ChEBI:CHEBI:58057, ChEBI:CHEBI:128769; EC=2.5.1.1; Evidence=. ;.
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=(2E)-geranyl diphosphate + isopentenyl diphosphate = (2E,6E)-farnesyl diphosphate + diphosphate; Xref=Rhea:RHEA:19361, ChEBI:CHEBI:33019, ChEBI:CHEBI:58057, ChEBI:CHEBI:128769, ChEBI:CHEBI:175763; EC=2.5.1.10; Evidence=. ;.
UniProtKB/Swiss-Prot EnzymeRegulation:
Inactivated by interferon-induced RSAD2. This inactivation may result of disruption of lipid rafts at the plasma membrane, and thus have an antiviral effect since many enveloped viruses need lipid rafts to bud efficiently out of the cell.

Enzyme Numbers (IUBMB) for FDPS Gene

Phenotypes From GWAS Catalog for FDPS Gene

Gene Ontology (GO) - Molecular Function for FDPS Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003723 RNA binding HDA 22658674
GO:0004161 dimethylallyltranstransferase activity IBA 21873635
GO:0004337 geranyltranstransferase activity IBA 21873635
GO:0016740 transferase activity IEA --
GO:0046872 metal ion binding IEA --
genes like me logo Genes that share ontologies with FDPS: view
genes like me logo Genes that share phenotypes with FDPS: view

Human Phenotype Ontology for FDPS Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Model Products

CRISPR Products

miRNA for FDPS Gene

miRTarBase miRNAs that target FDPS

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for FDPS

Clone Products

No data available for Animal Models , Transcription Factor Targets and HOMER Transcription for FDPS Gene

Localization for FDPS Gene

Subcellular locations from UniProtKB/Swiss-Prot for FDPS Gene

Cytoplasm.

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 FDPS gene
Compartment Confidence
nucleus 5
cytosol 5
mitochondrion 4
peroxisome 3
plasma membrane 2
extracellular 2
cytoskeleton 2
endoplasmic reticulum 2
golgi apparatus 2
endosome 1
lysosome 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Cytosol (2)
  • Nucleoplasm (2)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for FDPS Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005654 nucleoplasm IDA --
GO:0005737 cytoplasm IBA 21873635
GO:0005829 cytosol TAS --
GO:0016020 membrane IEA --
GO:0016021 integral component of membrane IEA --
genes like me logo Genes that share ontologies with FDPS: view

Pathways & Interactions for FDPS Gene

genes like me logo Genes that share pathways with FDPS: view

UniProtKB/Swiss-Prot P14324-FPPS_HUMAN

  • Pathway: Isoprenoid biosynthesis; farnesyl diphosphate biosynthesis; farnesyl diphosphate from geranyl diphosphate and isopentenyl diphosphate: step 1/1.
  • Pathway: Isoprenoid biosynthesis; geranyl diphosphate biosynthesis; geranyl diphosphate from dimethylallyl diphosphate and isopentenyl diphosphate: step 1/1.

Gene Ontology (GO) - Biological Process for FDPS Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006629 lipid metabolic process IEA --
GO:0006694 steroid biosynthetic process IEA --
GO:0006695 cholesterol biosynthetic process TAS --
GO:0008202 steroid metabolic process IEA --
GO:0008203 cholesterol metabolic process IEA --
genes like me logo Genes that share ontologies with FDPS: view

No data available for SIGNOR curated interactions for FDPS Gene

Drugs & Compounds for FDPS Gene

(41) Drugs for FDPS Gene - From: DrugBank, PharmGKB, ApexBio, DGIdb, IUPHAR, HMDB, and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Zoledronic Acid Approved Pharma Inhibition, Inhibitor, Target, inhibitor Potent nitrogen-containing bisphosphonates, Potent farnesyl diphosphate (FPP) synthase inhibitor, Osteoclast function modifiers (important in bone metastasis) 326
Alendronate Approved Pharma Inhibition, Inhibitor, Target, inhibitor Bone resorption inhibitor, Osteoclast function modifiers (important in bone metastasis) 173
Risedronate Approved, Investigational Pharma Inhibition, Inhibitor, Target, inhibitor 109
Pamidronate Approved Pharma Target, inhibitor 45
Ibandronate Approved, Investigational Pharma Target, inhibitor 0

(9) Additional Compounds for FDPS Gene - From: IUPHAR, Novoseek, and HMDB

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
NE97221
Inhibition, Inhibitor
Geranyl-PP
  • Geranyl pyrophosphate
  • Geranyl pyrophosphoric acid
  • (2E)-3,7-Dimethylocta-2,6-dien-1-yl trihydrogen diphosphate
  • Geranyl diphosphate
  • Geranyl-diphosphate
763-10-0
pyrophosphate
  • [(ho)2P(O)OP(O)(OH)2]
  • Acide diphosphorique
  • Diphosphorsaeure
  • H4P2O7
  • PYROphosphATE
14000-31-8

(2) ApexBio Compounds for FDPS Gene

Compound Action Cas Number
Alendronate Bone resorption inhibitor 121268-17-5
Risedronate Sodium FPP synthase inhibitor 115436-72-1
genes like me logo Genes that share compounds with FDPS: view

Drug Products

Transcripts for FDPS Gene

mRNA/cDNA for FDPS Gene

5 REFSEQ mRNAs :
12 NCBI additional mRNA sequence :
21 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for FDPS

Clone Products

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

ExUns: 1a · 1b · 1c · 1d · 1e · 1f · 1g · 1h ^ 2a · 2b · 2c ^ 3a · 3b · 3c ^ 4a · 4b ^ 5 ^ 6 ^ 7a · 7b · 7c ^ 8a · 8b · 8c · 8d ^ 9a ·
SP1: - - - - - - - - - - -
SP2: - - - - - - - - - -
SP3: - - - - - - - - - - - - -
SP4: - - - - - - - -
SP5: - - - - - - -
SP6: - - - - - - - -
SP7: - - - -
SP8: - - -
SP9: - - - - -
SP10: - - -
SP11: - - - - - - -
SP12: - - - - - - - -
SP13: - - - - -
SP14: - - - - - - - - - -
SP15: - - - - - - - - - -
SP16: - - - - - - - - - -
SP17: - - - - - - - - - -
SP18: - - - - - - - -
SP19: - - - -
SP20: - - - - - -
SP21: - - - - - - -
SP22: - - - - - - - - - - - -
SP23: -

ExUns: 9b · 9c ^ 10a · 10b ^ 11 ^ 12a · 12b · 12c ^ 13a · 13b
SP1: -
SP2: -
SP3: -
SP4: -
SP5: -
SP6: -
SP7: -
SP8: -
SP9: -
SP10: -
SP11:
SP12:
SP13:
SP14:
SP15:
SP16:
SP17:
SP18:
SP19:
SP20:
SP21:
SP22:
SP23:

Relevant External Links for FDPS Gene

GeneLoc Exon Structure for
FDPS

Expression for FDPS Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for FDPS Gene

Protein differential expression in normal tissues from HIPED for FDPS Gene

This gene is overexpressed in Fetal testis (11.2) and Adrenal (6.0).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for FDPS Gene



Protein tissue co-expression partners for FDPS Gene

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for FDPS

SOURCE GeneReport for Unigene cluster for FDPS Gene:

Hs.335918

Evidence on tissue expression from TISSUES for FDPS Gene

  • Liver(4.9)
  • Muscle(4.6)
  • Nervous system(4.6)
  • Bone marrow(4.3)
  • Lung(4.3)
  • Skin(4.1)
  • Pancreas(3.8)
  • Eye(3.5)
  • Intestine(3.2)
  • Blood(3.1)
  • Kidney(2.9)
  • Bone(2.4)
  • Heart(2.3)

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

Germ Layers:
  • ectoderm
Systems:
  • integumentary
Regions:
Limb:
  • nail
General:
  • hair
  • skin
  • sweat gland
genes like me logo Genes that share expression patterns with FDPS: view

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues and mRNA Expression by UniProt/SwissProt for FDPS Gene

Orthologs for FDPS Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for FDPS Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia FDPS 31 30
  • 99.76 (n)
OneToOne
cow
(Bos Taurus)
Mammalia FDPS 31 30
  • 87.91 (n)
OneToMany
-- 31
  • 85 (a)
OneToMany
dog
(Canis familiaris)
Mammalia FDPS 31 30
  • 87.03 (n)
OneToOne
mouse
(Mus musculus)
Mammalia Fdps 17 31 30
  • 85.6 (n)
rat
(Rattus norvegicus)
Mammalia Fdps 30
  • 84.51 (n)
oppossum
(Monodelphis domestica)
Mammalia -- 31
  • 79 (a)
OneToMany
-- 31
  • 51 (a)
OneToMany
chicken
(Gallus gallus)
Aves FDPS 31 30
  • 71.72 (n)
OneToOne
lizard
(Anolis carolinensis)
Reptilia FDPS 31
  • 26 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia fdps 30
  • 71.04 (n)
African clawed frog
(Xenopus laevis)
Amphibia Xl.25257 30
zebrafish
(Danio rerio)
Actinopterygii fdps 31 30
  • 62.49 (n)
OneToOne
fruit fly
(Drosophila melanogaster)
Insecta Fpps 31 32 30
  • 54.47 (n)
OneToOne
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP007104 30
  • 54.13 (n)
worm
(Caenorhabditis elegans)
Secernentea R06C1.2 32
  • 35 (a)
fdps-1 31
  • 32 (a)
OneToOne
A. gosspyii yeast
(Ashbya gossypii)
Saccharomycetes AGOS_AEL122W 30
  • 56.51 (n)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes ERG20 33 31 30
  • 52.66 (n)
K. lactis yeast
(Kluyveromyces lactis)
Saccharomycetes KLLA0A06732g 30
  • 51.75 (n)
thale cress
(Arabidopsis thaliana)
eudicotyledons FPS2 30
  • 52.82 (n)
rice
(Oryza sativa)
Liliopsida Os05g0543400 30
  • 52.89 (n)
bread mold
(Neurospora crassa)
Ascomycetes NCU01175 30
  • 58.63 (n)
fission yeast
(Schizosaccharomyces pombe)
Schizosaccharomycetes fps1 30
  • 52.99 (n)
sea squirt
(Ciona savignyi)
Ascidiacea -- 31
  • 48 (a)
OneToOne
Species where no ortholog for FDPS was found in the sources mined by GeneCards:
  • Actinobacteria (Mycobacterium tuberculosis)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • platypus (Ornithorhynchus anatinus)
  • rainbow trout (Oncorhynchus mykiss)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for FDPS Gene

ENSEMBL:
Gene Tree for FDPS (if available)
TreeFam:
Gene Tree for FDPS (if available)
Aminode:
Evolutionary constrained regions (ECRs) for FDPS: view image

Paralogs for FDPS Gene

No data available for Paralogs for FDPS Gene

Variants for FDPS Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for FDPS Gene

SNP ID Clinical significance and condition Chr 01 pos Variation AA Info Type
684523 Not Provided: not provided 155,320,440(+) T/C MISSENSE_VARIANT,NON_CODING_TRANSCRIPT_VARIANT
753832 Likely Benign: not provided 155,310,115(+) C/T SYNONYMOUS_VARIANT,INTRON_VARIANT
rs2297480 Drug Response: Bisphosphonates response - Efficacy 155,309,691(+) T/G INTRON_VARIANT
rs769193201 Pathogenic: Porokeratosis 9, multiple types 155,318,292(+) G/A SPLICE_DONOR_VARIANT,NON_CODING_TRANSCRIPT_VARIANT
rs863225241 Pathogenic: Porokeratosis 9, multiple types. Porokeratosis 9, multiple types (POROK9) [MIM:616631] 155,317,996(+) G/Ap.Arg179Gln MISSENSE_VARIANT,NON_CODING_TRANSCRIPT_VARIANT

Additional dbSNP identifiers (rs#s) for FDPS Gene

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

Variant ID Type Subtype PubMed ID
dgv3n68 CNV loss 17160897
esv2758971 CNV gain 17122850
esv33869 CNV loss 17666407
nsv3032 CNV insertion 18451855
nsv831636 CNV loss 17160897
nsv946413 CNV duplication 23825009

Variation tolerance for FDPS Gene

Residual Variation Intolerance Score: 28.1% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 2.45; 43.07% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for FDPS Gene

Human Gene Mutation Database (HGMD)
FDPS
SNPedia medical, phenotypic, and genealogical associations of SNPs for
FDPS

SNP Genotyping and Copy Number Assay Products

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

Disorders for FDPS Gene

MalaCards: The human disease database

(14) MalaCards diseases for FDPS Gene - From: UniProtKB/Swiss-Prot, OMIM, ClinVar, GTR, Orphanet, DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
porokeratosis 9, multiple types
  • porok9
porokeratosis
  • porokeratosis of mibelli
linear porokeratosis
  • congenital facial linear porokeratosis
punctate porokeratosis
  • porokeratosis punctata palmaris et plantaris
osteonecrosis
  • aseptic necrosis
- elite association - COSMIC cancer census association via MalaCards
Search FDPS in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

FPPS_HUMAN
  • Porokeratosis 9, multiple types (POROK9) [MIM:616631]: A form of porokeratosis, a disorder of faulty keratinization characterized by one or more atrophic patches surrounded by a distinctive hyperkeratotic ridgelike border called the cornoid lamella. The keratotic lesions can progress to overt cutaneous neoplasms, typically squamous cell carcinomas. Multiple clinical variants of porokeratosis are recognized, including porokeratosis of Mibelli, linear porokeratosis, disseminated superficial actinic porokeratosis, palmoplantar porokeratosis, and punctate porokeratosis. Different clinical presentations can be observed among members of the same family. Individuals expressing more than one variant have also been reported. {ECO:0000269 PubMed:26202976}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Additional Disease Information for FDPS

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
genes like me logo Genes that share disorders with FDPS: view

No data available for Genatlas for FDPS Gene

Publications for FDPS Gene

  1. Isolation and sequence of the human farnesyl pyrophosphate synthetase cDNA. Coordinate regulation of the mRNAs for farnesyl pyrophosphate synthetase, 3-hydroxy-3-methylglutaryl coenzyme A reductase, and 3-hydroxy-3-methylglutaryl coenzyme A synthase by phorbol ester. (PMID: 1968462) Wilkin DJ … Edwards PA (The Journal of biological chemistry 1990) 2 3 4 23 54
  2. Modulatory effect of farnesyl pyrophosphate synthase (FDPS) rs2297480 polymorphism on the response to long-term amino-bisphosphonate treatment in postmenopausal osteoporosis. (PMID: 18687167) Marini F … Brandi ML (Current medical research and opinion 2008) 3 23 41 54
  3. Higher farnesyl diphosphate synthase activity in human colorectal cancer inhibition of cellular apoptosis. (PMID: 15713990) Notarnicola M … Caruso MG (Oncology 2004) 3 23 26 54
  4. Oncoviral bovine leukemia virus G4 and human T-cell leukemia virus type 1 p13(II) accessory proteins interact with farnesyl pyrophosphate synthetase. (PMID: 11773414) Lefèbvre L … Willems L (Journal of virology 2002) 3 4 23 54
  5. Structure-activity relationships for inhibition of farnesyl diphosphate synthase in vitro and inhibition of bone resorption in vivo by nitrogen-containing bisphosphonates. (PMID: 11160603) Dunford JE … Rogers MJ (The Journal of pharmacology and experimental therapeutics 2001) 3 23 26 54

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