FDPS (farnesyl diphosphate synthase)

Gene Gene information from NCBI Gene database.
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID 2224
Gene name Farnesyl diphosphate synthase
Gene symbol FDPS
Synonyms (NCBI Gene)
FPPSFPSPOROK9
Chromosome 1
Chromosome location 1q22
Summary 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 cholester
SNPs SNP information provided by dbSNP.
1
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
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SNP ID Visualize variation Clinical significance Consequence
rs2297480 T>A,G Drug-response Intron variant
miRNA miRNA information provided by mirtarbase database.
2
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
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miRTarBase ID miRNA Experiments Reference
MIRT051567 hsa-let-7e-5p CLASH 23622248
MIRT038702 hsa-miR-30c-2-3p CLASH 23622248
Transcription factors Transcription factors information provided by TRRUST V2 database.
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Transcription factor Regulation Reference
NFYC Unknown 20450493
SREBF1 Unknown 8798690
SREBF2 Unknown 20450493
YY1 Unknown 10318878
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
31
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
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GO ID Ontology Definition Evidence Reference
GO:0003723 Function RNA binding HDA 22658674
GO:0004161 Function Dimethylallyltranstransferase activity IBA
GO:0004161 Function Dimethylallyltranstransferase activity IEA
GO:0004337 Function (2E,6E)-farnesyl diphosphate synthase activity IBA
GO:0004337 Function (2E,6E)-farnesyl diphosphate synthase activity IEA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
MIM HGNC e!Ensembl
134629 3631 ENSG00000160752
Protein Protein information from UniProt database.
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
P14324
Protein name Farnesyl pyrophosphate synthase (FPP synthase) (FPS) (EC 2.5.1.10) ((2E,6E)-farnesyl diphosphate synthase) (Dimethylallyltranstransferase) (EC 2.5.1.1) (Farnesyl diphosphate synthase) (Geranyltranstransferase)
Protein 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
PDB 1YQ7 , 1YV5 , 1ZW5 , 2F7M , 2F89 , 2F8C , 2F8Z , 2F92 , 2F94 , 2F9K , 2OPM , 2OPN , 2QIS , 2RAH , 2VF6 , 3B7L , 3CP6 , 3N1V , 3N1W , 3N3L , 3N45 , 3N46 , 3N49 , 3N5H , 3N5J , 3N6K , 3RYE , 3S4J , 4DEM , 4GA3 , 4H5C , 4H5D , 4H5E , 4JVJ , 4KFA , 4KPD , 4KPJ , 4KQ5 , 4KQS , 4KQU , 4L2X , 4LFV , 4LPG , 4LPH , 4N1Z , 4N9U , 4NFI , 4NFJ , 4NFK , 4NG6 , 4NKE
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00348 polyprenyl_synt 108 → 374 Polyprenyl synthetase Domain
Sequence
Sequence length 419
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
  KEGG  Reactome
  Terpenoid backbone biosynthesis
Metabolic pathways
Influenza A
Human T-cell leukemia virus 1 infection 		  Cholesterol biosynthesis
Activation of gene expression by SREBF (SREBP)
Associated diseases Disease associations from ClinVar categorized as Causal (Pathogenic/Likely Pathogenic) or Unknown.
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Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide Causal Diseases (1)
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Porokeratosis 9, multiple types Pathogenic rs863225241, rs769193201 RCV000201791
RCV000201790
Show/Hide Unknown Diseases (1)
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
FDPS-related disorder Likely benign; Benign rs765430280, rs143038155, rs61729685, rs35362111, rs1650021408, rs41314549 RCV003896903
RCV003929812
RCV003911557
RCV003941486
RCV003976806
RCV003975362
Show/Hide Text Mining Associations (25)
Associations from Text MiningDisease associations identified through Pubtator
Disease Name Relationship Type References
Alzheimer Disease Associate 17387528
Bisphosphonate Associated Osteonecrosis of the Jaw Associate 21196316
Bone Diseases Associate 16698791
Brain Neoplasms Associate 28419419
Breast Neoplasms Associate 36634566, 37190091
Calcinosis Inhibit 39289624
Carcinoma Hepatocellular Associate 12824919
Carcinoma Renal Cell Associate 34513998
Cardiomyopathies Associate 34783037
Cardiomyopathy Dilated Associate 34783037