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FDPS Gene(Protein Coding)

Farnesyl Diphosphate Synthase

GCID:
GC01P155278
GIFtS:
64
Genes Participants
UDN Logo

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
  • FPP Synthase 3 4
  • FPS 3 4
  • Farnesyl Pyrophosphate Synthase 3
  • 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
  • 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 HTLV-I infection. GO annotations related to this gene include poly(A) RNA binding and geranyltranstransferase activity. An important paralog of this gene is RUSC2.

UniProtKB/Swiss-Prot 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.

No data available for CIViC summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for FDPS Gene

Genomics for FDPS Gene

Products:

  1. Regulatory Element

Regulatory Elements for FDPS Gene

Enhancers for FDPS Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH01G155242 1.5 ENCODE dbSUPER 11.7 -64.5 -64506 2.9 CREB3L1 FEZF1 YBX1 YY1 ZNF416 ZNF143 ZNF548 ZNF263 SP3 TBX21 KIAA0907 ENSG00000271267 RUSC1-AS1 MSTO2P ASH1L THBS3 PYGO2 LOC101928120 GBA BGLAP
GH01G155240 1.3 ENCODE dbSUPER 11.7 -67.3 -67330 1.6 PKNOX1 ARNT ARID4B SIN3A DMAP1 YY1 ZNF143 FOS SP3 ZHX2 HCN3 KRTCAP2 TRIM46 PKLR FDPS RUSC1 RUSC1-AS1 MIR555 ASH1L MUC1
GH01G155272 1.1 ENCODE 12.2 -35.3 -35330 2.3 HDGF PKNOX1 MLX CREB3L1 ARNT WRNIP1 ARID4B SIN3A DMAP1 YY1 GBA PKLR FDPS RUSC1 RUSC1-AS1 MIR555 ASH1L THBS3 MUC1 HCN3
GH01G155499 1.3 FANTOM5 Ensembl ENCODE 10 +191.3 191298 1.6 NFIB INSM2 ZNF384 CHD7 ARID3A ZNF366 ZBTB48 PRDM10 YY2 ZNF394 ASH1L RNU6-1297P MIR555 RUSC1 RUSC1-AS1 FDPS ARHGEF2 RIT1 MTX1 YY1AP1
GH01G155598 1.2 FANTOM5 Ensembl ENCODE 10.6 +290.3 290261 0.8 CTCF ZNF384 DPF2 RAD21 EP300 ZNF585B IKZF1 ZBTB33 TCF7L2 ASH1L ASH1L-AS1 RUSC1-AS1 RUSC1 RNU6-1297P FDPS MIR555 LOC284620 MSTO1
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around FDPS on UCSC Golden Path with GeneCards custom track

Promoters for FDPS Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000014061 352 1801 CREB3L1 DMAP1 YY1 SLC30A9 ZNF143 SP3 NFYC TBX21 ZNF610 GLIS1

Transcription factor binding sites by QIAGEN in the FDPS gene promoter:

Genomic Location for FDPS Gene

Chromosome:
1
Start:
155,308,748 bp from pter
End:
155,320,666 bp from pter
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 Structure • Gene Density

RefSeq DNA sequence for FDPS Gene

Proteins for FDPS Gene

Products:

  1. Antibody
  2. Protein
  3. Assay

  • 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. Interacts with HTLV-1 protein p13(II).
    SequenceCaution:
    • Sequence=BAA03523.2; Type=Erroneous initiation; Note=Translation N-terminally shortened.; 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

Protein Expression for FDPS Gene

See protein expression from ProteomicsDB, MOPED, PaxDb, and MaxQB

Post-translational modifications for FDPS Gene

  • Ubiquitination at isoforms=2112, isoforms=2142, isoforms=2187, isoforms=2210, Lys332, isoforms=2353, and Lys359
  • Modification sites at PhosphoSitePlus

Other Protein References for FDPS Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for FDPS Gene

Domains & Families for FDPS Gene

Gene Families for FDPS Gene

IUPHAR :

Protein Domains for FDPS Gene

InterPro:
Blocks:
ProtoNet:

Suggested Antigen Peptide Sequences for FDPS Gene

GenScript: Design optimal peptide antigens:

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

Products:

  1. Animal Model
  2. CRISPR
  3. miRNA
  4. Inhibitory RNA
  5. Clone
  6. Cell Line
  7. Flow Cytometry

Molecular function for FDPS Gene

UniProtKB/Swiss-Prot CatalyticActivity:
Dimethylallyl diphosphate + isopentenyl diphosphate = diphosphate + geranyl diphosphate.
UniProtKB/Swiss-Prot CatalyticActivity:
Geranyl diphosphate + isopentenyl diphosphate = diphosphate + (2E,6E)-farnesyl diphosphate.
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.
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.

Enzyme Numbers (IUBMB) for FDPS Gene

Gene Ontology (GO) - Molecular Function for FDPS Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003723 RNA binding IDA 22658674
GO:0004161 dimethylallyltranstransferase activity TAS --
GO:0004337 geranyltranstransferase activity TAS --
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

Flow Cytometry 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
extracellular 2
endoplasmic reticulum 1

Gene Ontology (GO) - Cellular Components for FDPS Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005654 nucleoplasm IDA --
GO:0005737 cytoplasm IEA,IBA --
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

Products:

  1. Drug

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

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Zoledronic acid Approved Pharma Inhibition, Inhibitor, inhibitor, Target Potent nitrogen-containing bisphosphonates, Osteoclast function modifiers (important in bone metastasis) 294
Alendronate Approved Pharma Inhibition, Inhibitor, inhibitor, Target Bone resorption inhibitor, Osteoclast function modifiers (important in bone metastasis) 162
Risedronate Approved, Investigational Pharma Inhibition, Inhibitor, inhibitor, Target 0
Pamidronate Approved Pharma inhibitor, Target 44
Ibandronate Approved, Investigational Pharma inhibitor, Target 0

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

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
NE97221
Inhibition, Inhibitor
Farnesyl pyrophosphate
  • (2E,6E)-Farnesyl diphosphate
  • (2E,6E)-Farnesyl pyrophosphate
  • (all-E)-Farnesyl diphosphate
  • (E,E)-Farnesyl diphosphate
  • (E,E)-Farnesyl pyrophosphate
 13058-04-3
Geranyl-PP
  • (2E)-3,7-dimethylocta-2,6-dien-1-yl trihydrogen diphosphate
  • Geranyl diphosphate
  • Geranyl-diphosphate
  • Geranyl-PP
  • Geranyl-pyrophosphate
 763-10-0
pyrophosphate
  • (4-)Diphosphoric acid ion
  • (P2O74-)Diphosphate
  • Diphosphate
  • Diphosphoric acid
  • PPi
 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

Transcripts for FDPS Gene

Products:

  1. CRISPR
  2. miRNA
  3. Inhibitory RNA
  4. Clone
  5. Flow Cytometry

mRNA/cDNA for FDPS Gene

(7) REFSEQ mRNAs :
(5) Additional mRNA sequences :
(785) Selected AceView cDNA sequences:
(21) Ensembl transcripts including schematic representations, and UCSC links where relevant :

Unigene Clusters for FDPS Gene

Farnesyl diphosphate synthase:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

Flow Cytometry 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
ECgene alternative splicing isoforms for
FDPS

Expression for FDPS Gene

Products:

  1. Primer

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

mRNA expression in normal human tissues for FDPS Gene
mRNA expression by BioGPS for FDPS GenemRNA expression by GTEx 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, PaxDb, MaxQB, and MOPED for FDPS Gene



Protein tissue co-expression partners for FDPS Gene

NURSA nuclear receptor signaling pathways regulating expression of FDPS Gene:

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(2.8)
  • Bone(2.4)
  • Heart(2.2)

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

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

Primer Products

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 34 35
  • 99.76 (n)
cow
(Bos Taurus)
 Mammalia FDPS 34 35
  • 87.91 (n)
-- 35
  • 85 (a)
 OneToMany
dog
(Canis familiaris)
 Mammalia FDPS 34 35
  • 87.03 (n)
mouse
(Mus musculus)
 Mammalia Fdps 34 16 35
  • 85.6 (n)
rat
(Rattus norvegicus)
 Mammalia Fdps 34
  • 84.51 (n)
oppossum
(Monodelphis domestica)
 Mammalia -- 35
  • 79 (a)
 OneToMany
-- 35
  • 51 (a)
 OneToMany
chicken
(Gallus gallus)
 Aves FDPS 34 35
  • 71.72 (n)
lizard
(Anolis carolinensis)
 Reptilia FDPS 35
  • 26 (a)
 OneToOne
tropical clawed frog
(Silurana tropicalis)
 Amphibia fdps 34
  • 71.04 (n)
African clawed frog
(Xenopus laevis)
 Amphibia Xl.25257 34
zebrafish
(Danio rerio)
 Actinopterygii fdps 34 35
  • 62.49 (n)
fruit fly
(Drosophila melanogaster)
 Insecta Fpps 36 34 35
  • 54.47 (n)
African malaria mosquito
(Anopheles gambiae)
 Insecta AgaP_AGAP007104 34
  • 54.13 (n)
worm
(Caenorhabditis elegans)
 Secernentea R06C1.2 36
  • 35 (a)
fdps-1 35
  • 32 (a)
 OneToOne
A. gosspyii yeast
(Ashbya gossypii)
 Saccharomycetes AGOS_AEL122W 34
  • 56.51 (n)
baker's yeast
(Saccharomyces cerevisiae)
 Saccharomycetes ERG20 34 35 37
  • 52.66 (n)
K. lactis yeast
(Kluyveromyces lactis)
 Saccharomycetes KLLA0A06732g 34
  • 51.75 (n)
thale cress
(Arabidopsis thaliana)
 eudicotyledons FPS2 34
  • 52.82 (n)
rice
(Oryza sativa)
 Liliopsida Os05g0543400 34
  • 52.89 (n)
bread mold
(Neurospora crassa)
 Ascomycetes NCU01175 34
  • 58.63 (n)
fission yeast
(Schizosaccharomyces pombe)
 Schizosaccharomycetes fps1 34
  • 52.99 (n)
sea squirt
(Ciona savignyi)
 Ascidiacea -- 35
  • 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)

Paralogs for FDPS Gene

Variants for FDPS Gene

Sequence variations from dbSNP and Humsavar for FDPS Gene

SNP ID Clin Chr 01 pos Sequence Context AA Info Type
rs2297480 drug-response 155,309,691(-) ACCCC(A/C)GCCTT intron-variant
rs863225241 Pathogenic, Porokeratosis 9, multiple types (POROK9) [MIM:616631] 155,317,996(+) CCGCC(A/G)GGGAC reference, missense
rs769193201 Pathogenic 155,318,292(+) TGCAG(A/G/T)TGTAT splice-donor-variant
rs1000809053 -- 155,314,299(+) TTCCA(C/T)CGCCT intron-variant
rs1000841666 -- 155,314,475(+) CGCCT(A/G)GTCTA intron-variant

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)

Relevant External Links for FDPS Gene

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

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

Disorders for FDPS Gene

MalaCards: The human disease database

(15) MalaCards diseases for FDPS Gene - From: ClinVar, Orphanet, Swiss-Prot, DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
porokeratosis 9, multiple types
  • porok9
porokeratosis
  • disseminated superficial actinic porokeratosis
linear porokeratosis
  • congenital facial linear porokeratosis
punctate porokeratosis
  • porokeratosis punctata palmaris et plantaris
osteonecrosis of the jaw
- 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.

Relevant External Links for FDPS

Genetic Association Database (GAD)
FDPS
Human Genome Epidemiology (HuGE) Navigator
FDPS
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
FDPS
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 D.J. … Edwards P.A. (J. Biol. Chem. 1990) 2 3 4 22 64
  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 M.L. (Curr Med Res Opin 2008) 3 22 46 64
  3. Higher farnesyl diphosphate synthase activity in human colorectal cancer inhibition of cellular apoptosis. (PMID: 15713990) Notarnicola M. … Caruso M.G. (Oncology 2004) 3 22 25 64
  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) Lefebvre L. … Willems L. (J. Virol. 2002) 3 4 22 64
  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 J.E. … Rogers M.J. (J. Pharmacol. Exp. Ther. 2001) 3 22 25 64

Products for FDPS Gene

  • Cloud-Clone Corp. Antibodies for FDPS
  • Cloud-Clone Corp. Proteins for FDPS
  • Cloud-Clone Corp Assay Kits for FDPS

Sources for FDPS Gene

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