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Aliases for MVD Gene

Aliases for MVD Gene

  • Mevalonate Diphosphate Decarboxylase 2 3 5
  • Mevalonate Pyrophosphate Decarboxylase 2 3 4
  • Mevalonate (Diphospho) Decarboxylase 2 3
  • Diphosphomevalonate Decarboxylase 2 3
  • MDDase 3 4
  • MPD 3 4
  • Mevalonate (Diphospho)Decarboxylase 4
  • EC 4
  • FP17780 3
  • POROK7 3

External Ids for MVD Gene

Previous GeneCards Identifiers for MVD Gene

  • GC16M080154
  • GC16M089686
  • GC16M088421
  • GC16M088462
  • GC16M087245
  • GC16M088718
  • GC16M074412

Summaries for MVD Gene

Entrez Gene Summary for MVD Gene

  • The enzyme mevalonate pyrophosphate decarboxylase catalyzes the conversion of mevalonate pyrophosphate into isopentenyl pyrophosphate in one of the early steps in cholesterol biosynthesis. It decarboxylates and dehydrates its substrate while hydrolyzing ATP. [provided by RefSeq, Jul 2008]

GeneCards Summary for MVD Gene

MVD (Mevalonate Diphosphate Decarboxylase) is a Protein Coding gene. Diseases associated with MVD include Porokeratosis 7, Multiple Types and Porokeratosis. Among its related pathways are Regulation of cholesterol biosynthesis by SREBP (SREBF) and Terpenoid backbone biosynthesis. Gene Ontology (GO) annotations related to this gene include protein homodimerization activity and Hsp70 protein binding.

UniProtKB/Swiss-Prot for MVD Gene

  • Performs the first committed step in the biosynthesis of isoprenes.

Additional gene information for MVD Gene

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

Genomics for MVD Gene

GeneHancer (GH) Regulatory Elements for MVD Gene

Promoters and enhancers for MVD Gene
GeneHancer (GH) Identifier GH Type GH
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH16J088661 Promoter/Enhancer 2.1 EPDnew Ensembl ENCODE 655.4 +0.1 55 2.6 HDGF PKNOX1 ARID4B SIN3A FEZF1 DMAP1 ZBTB7B YY1 POLR2B E2F8 SNAI3-AS1 MVD ZNF778 ZC3H18 ANKRD11 ENSG00000259877 CTU2 KLHDC4 BANP LINC00304
GH16J088685 Promoter/Enhancer 2 EPDnew Ensembl ENCODE 12.4 -23.8 -23794 3.6 HDGF PKNOX1 MLX ARNT ARID4B SIN3A DMAP1 CBX5 FOS KLF13 PIR40856 SNAI3 SNORD68 ACSF3 RPL13 ANKRD11 BANP SNAI3-AS1 RNF166 MVD
GH16J088615 Enhancer 1.4 FANTOM5 ENCODE dbSUPER 12.2 +44.7 44669 5.5 PKNOX1 ATF1 FOXA2 MLX ARID4B SIN3A FEZF1 DMAP1 ZNF48 YY1 CYBA IL17C ZC3H18 SNAI3 MVD RNF166 ZFPM1
GH16J088649 Promoter/Enhancer 2.3 EPDnew Ensembl ENCODE dbSUPER 5 +11.6 11564 4.7 HDGF PKNOX1 FOXA2 MLX ARNT ZFP64 ARID4B SIN3A DMAP1 IRF4 CYBA ANKRD11 BANP LOC101927863 ZC3H18 ENSG00000268218 SNAI3-AS1 ACSF3 RPL13 SNORD68
GH16J088691 Enhancer 0.8 Ensembl ENCODE 12.5 -29.2 -29243 2 SMARCA5 STAT1 ZNF687 MAX EBF1 IKZF1 VEZF1 ZBTB33 MYC SPI1 RNF166 MVD CYBA SNAI3-AS1 PIEZO1 ENSG00000259813 PIR40856
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around MVD on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the MVD gene promoter:
  • p53
  • AP-1
  • Sp1
  • PPAR-alpha
  • AhR
  • Arnt
  • Pax-5

Genomic Locations for MVD Gene

Genomic Locations for MVD Gene
11,227 bases
Minus strand
11,227 bases
Minus strand

Genomic View for MVD Gene

Genes around MVD on UCSC Golden Path with GeneCards custom track

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

RefSeq DNA sequence for MVD Gene

Proteins for MVD Gene

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

    Protein Symbol:
    Recommended name:
    Diphosphomevalonate decarboxylase
    Protein Accession:
    Secondary Accessions:
    • Q53Y65

    Protein attributes for MVD Gene

    400 amino acids
    Molecular mass:
    43405 Da
    Quaternary structure:
    • Homodimer.

    Three dimensional structures from OCA and Proteopedia for MVD Gene

neXtProt entry for MVD Gene

Post-translational modifications for MVD Gene

  • Ubiquitination at isoforms=179, Lys58, and Lys22
  • Modification sites at PhosphoSitePlus

No data available for DME Specific Peptides for MVD Gene

Domains & Families for MVD Gene

Gene Families for MVD Gene

Human Protein Atlas (HPA):
  • Disease related genes
  • Enzymes
  • Plasma proteins
  • Potential drug targets
  • Predicted intracellular proteins
  • Predicted membrane proteins

Suggested Antigen Peptide Sequences for MVD Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry



  • Belongs to the diphosphomevalonate decarboxylase family.
  • Belongs to the diphosphomevalonate decarboxylase family.
genes like me logo Genes that share domains with MVD: view

Function for MVD Gene

Molecular function for MVD Gene

UniProtKB/Swiss-Prot Function:
Performs the first committed step in the biosynthesis of isoprenes.
UniProtKB/Swiss-Prot CatalyticActivity:
ATP + (R)-5-diphosphomevalonate = ADP + phosphate + isopentenyl diphosphate + CO(2).
UniProtKB/Swiss-Prot BiophysicochemicalProperties:
Kinetic parameters: KM=7.4 uM for (R)-5-diphosphomevalonate {ECO:0000269 PubMed:9392419}; KM=0.32 mM for ATP {ECO:0000269 PubMed:9392419};

Enzyme Numbers (IUBMB) for MVD Gene

Phenotypes From GWAS Catalog for MVD Gene

Gene Ontology (GO) - Molecular Function for MVD Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0004163 diphosphomevalonate decarboxylase activity TAS --
GO:0005524 ATP binding IEA --
GO:0016829 lyase activity IEA --
GO:0016831 carboxy-lyase activity IEA --
GO:0030544 Hsp70 protein binding IPI 12646231
genes like me logo Genes that share ontologies with MVD: view
genes like me logo Genes that share phenotypes with MVD: view

Human Phenotype Ontology for MVD Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Model Products

  • Taconic Biosciences Mouse Models for MVD

miRNA for MVD Gene

miRTarBase miRNAs that target MVD

Clone Products

  • Addgene plasmids for MVD

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

Localization for MVD Gene

Subcellular locations from

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 MVD gene
Compartment Confidence
cytosol 5
peroxisome 2
extracellular 1
mitochondrion 1
nucleus 1

Subcellular locations from the

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

Gene Ontology (GO) - Cellular Components for MVD Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005777 NOT peroxisome IDA 14972328
GO:0005829 cytosol TAS --
genes like me logo Genes that share ontologies with MVD: view

No data available for Subcellular locations from UniProtKB/Swiss-Prot for MVD Gene

Pathways & Interactions for MVD Gene

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

UniProtKB/Swiss-Prot P53602-MVD1_HUMAN

  • Pathway: Steroid biosynthesis; cholesterol biosynthesis.

Gene Ontology (GO) - Biological Process for MVD Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006489 dolichyl diphosphate biosynthetic process TAS --
GO:0006629 lipid metabolic process IEA --
GO:0006694 steroid biosynthetic process IEA --
GO:0006695 cholesterol biosynthetic process TAS --
GO:0008202 steroid metabolic process IEA --
genes like me logo Genes that share ontologies with MVD: view

No data available for SIGNOR curated interactions for MVD Gene

Drugs & Compounds for MVD Gene

(24) Drugs for MVD Gene - From: ClinicalTrials, DGIdb, IUPHAR, HMDB, and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Carbon dioxide Approved, Investigational, Vet_approved Pharma 0
Phosphoric acid Approved Pharma 0
Isopentenyl pyrophosphate Experimental Pharma 0
ATP Investigational Nutra Agonist, Activator, Full agonist, Antagonist, Potentiation, Pore Blocker 0
6-fluoromevalonate 5-diphosphate Pharma Competitive, Inhibitor 0

(10) Additional Compounds for MVD Gene - From: HMDB, IUPHAR, and Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
P-geranyl 2-fluoromevalonate 5-diphosphate
Competitive, Inhibitor
(R)-Mevalonic acid-5-pyrophosphate
  • (R)-5-Diphosphomevalonic acid
  • 1,1,3,7-Tetrahydroxy-7-methyl-2,4-dioxa-1,3-diphosphanonan-9-Oate
  • 1,1,3,7-Tetrahydroxy-7-methyl-2,4-dioxa-1,3-diphosphanonan-9-Oic acid
  • 1,1,3,7-Tetrahydroxy-7-methyl-2,4-dioxa-1,3-diphosphanonan-9-Oic acid 1,3-dioxide
  • 5-Pyrophosphomevalonate
(S)-5-Diphosphomevalonic acid
  • (R)-5-Diphosphomevalonate
  • (R)-5-Diphosphomevalonic acid
  • (S)-5-Diphosphomevalonate
  • (S)-Mevalonic acid-5-pyrophosphate
  • 1,1,3,7-Tetrahydroxy-7-methyl-2,4-dioxa-1,3-diphosphanonan-9-Oate
  • 5'-Adenylphosphoric acid
  • Adenosine 5'-diphosphate
  • ADENOSINE-5'-diphosphATE
  • H3ADP
  • 5'-Adenylphosphate
Full agonist, Agonist, Partial agonist, Antagonist, Gating inhibitor 58-64-0
  • [po(OH)3]
  • Acide phosphorique
  • Acidum phosphoricum
  • H3PO4
  • Orthophosphoric acid
genes like me logo Genes that share compounds with MVD: view

Transcripts for MVD Gene

Unigene Clusters for MVD Gene

Mevalonate (diphospho) decarboxylase:
Representative Sequences:

Clone Products

  • Addgene plasmids for MVD

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

ExUns: 1a · 1b · 1c · 1d · 1e · 1f ^ 2a · 2b ^ 3a · 3b ^ 4 ^ 5 ^ 6a · 6b ^ 7 ^ 8a · 8b ^ 9a · 9b · 9c ^ 10 ^ 11 ^ 12a · 12b · 12c ^ 13a ·
SP1: - - - - - - - - - - - -
SP2: - - - - - - - - - -
SP3: - - - - - - - - - - -
SP4: - - - - - - - - - - -
SP5: - - - - - - - - - -
SP6: - - - - -
SP7: - - - - - - - - - - -
SP8: - - - - - - - - - - -
SP9: - - - -
SP11: - - - - - - - - - - - - - -
SP12: - - - - - - - - - - - -
SP13: - - - - - - - - - -
SP14: - - - - - - - - - -
SP15: - -
SP16: - - - -
SP17: - - -
SP18: - - - -
SP19: - - -
SP20: -

ExUns: 13b · 13c ^ 14a · 14b ^ 15a · 15b · 15c ^ 16 ^ 17a · 17b ^ 18
SP1: -
SP2: -
SP3: -
SP4: -
SP8: -
SP9: -
SP10: - -
SP11: -
SP17: -

Relevant External Links for MVD Gene

GeneLoc Exon Structure for
ECgene alternative splicing isoforms for

Expression for MVD Gene

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

Protein differential expression in normal tissues from HIPED for MVD Gene

This gene is overexpressed in Fetal testis (32.3).

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

Protein tissue co-expression partners for MVD Gene

NURSA nuclear receptor signaling pathways regulating expression of MVD Gene:


SOURCE GeneReport for Unigene cluster for MVD Gene:


mRNA Expression by UniProt/SwissProt for MVD Gene:

Tissue specificity: Expressed in heart, skeletal muscle, lung, liver, brain, pancreas, kidney and placenta.

Evidence on tissue expression from TISSUES for MVD Gene

  • Liver(4.4)
  • Nervous system(3.7)

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

Germ Layers:
  • ectoderm
  • integumentary
  • nail
  • hair
  • skin
  • sweat gland
genes like me logo Genes that share expression patterns with MVD: view

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery and mRNA differential expression in normal tissues for MVD Gene

Orthologs for MVD Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for MVD Gene

Organism Taxonomy Gene Similarity Type Details
(Pan troglodytes)
Mammalia MVD 34 33
  • 99.33 (n)
(Canis familiaris)
Mammalia MVD 34 33
  • 85.25 (n)
(Bos Taurus)
Mammalia MVD 34 33
  • 84.33 (n)
(Rattus norvegicus)
Mammalia Mvd 33
  • 83.38 (n)
(Mus musculus)
Mammalia Mvd 16 34 33
  • 82.7 (n)
(Ornithorhynchus anatinus)
Mammalia MVD 34
  • 77 (a)
(Monodelphis domestica)
Mammalia MVD 34
  • 77 (a)
(Gallus gallus)
Aves MVD 34 33
  • 73.35 (n)
(Anolis carolinensis)
Reptilia MVD 34
  • 68 (a)
tropical clawed frog
(Silurana tropicalis)
Amphibia mvd 33
  • 65.22 (n)
LOC394871 33
(Danio rerio)
Actinopterygii mvda 34 33
  • 65.56 (n)
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP001611 33
  • 57.05 (n)
fruit fly
(Drosophila melanogaster)
Insecta CG8239 34 35 33
  • 54.16 (n)
(Caenorhabditis elegans)
Secernentea Y48B6A.13 34
  • 40 (a)
Y48B6A.13b 35
  • 40 (a)
Y48B6A.13a 35
  • 39 (a)
A. gosspyii yeast
(Ashbya gossypii)
Saccharomycetes AGOS_AGL232C 33
  • 58.09 (n)
K. lactis yeast
(Kluyveromyces lactis)
Saccharomycetes KLLA0F10285g 33
  • 50.13 (n)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes MVD1 36 34 33
  • 49.09 (n)
thale cress
(Arabidopsis thaliana)
eudicotyledons AT3G54250 33
  • 52.79 (n)
(Glycine max)
eudicotyledons Gma.7599 33
(Oryza sativa)
Liliopsida Os02g0109100 33
  • 61.2 (n)
Os.10543 33
(Zea mays)
Liliopsida Zm.14376 33
(Hordeum vulgare)
Liliopsida Hv.5909 33
bread mold
(Neurospora crassa)
Ascomycetes NCU11381 33
  • 54.27 (n)
fission yeast
(Schizosaccharomyces pombe)
Schizosaccharomycetes mvd1 33
  • 51.05 (n)
Species where no ortholog for MVD was found in the sources mined by GeneCards:
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • beta proteobacteria (Neisseria meningitidis)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • 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)
  • rainbow trout (Oncorhynchus mykiss)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for MVD Gene

Gene Tree for MVD (if available)
Gene Tree for MVD (if available)
Evolutionary constrained regions (ECRs) for MVD: view image

Paralogs for MVD Gene

No data available for Paralogs for MVD Gene

Variants for MVD Gene

Sequence variations from dbSNP and Humsavar for MVD Gene

SNP ID Clin Chr 16 pos Variation AA Info Type
rs144010349 Porokeratosis 7, multiple types (POROK7) [MIM:614714] 88,656,226(-) C/T coding_sequence_variant, missense_variant
rs200033380 Porokeratosis 7, multiple types (POROK7) [MIM:614714] 88,657,537(-) G/A/C 5_prime_UTR_variant, coding_sequence_variant, missense_variant
rs546127665 Porokeratosis 7, multiple types (POROK7) [MIM:614714] 88,652,602(-) C/G/T coding_sequence_variant, missense_variant
rs755948940 pathogenic, Porokeratosis 7, multiple types, Porokeratosis 7, multiple types (POROK7) [MIM:614714] 88,655,221(-) T/C coding_sequence_variant, missense_variant
rs761991070 pathogenic, Porokeratosis 7, multiple types, Porokeratosis 7, multiple types (POROK7) [MIM:614714] 88,655,350(-) A/G coding_sequence_variant, missense_variant

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

Variant ID Type Subtype PubMed ID
nsv952070 CNV deletion 24416366
nsv833325 CNV loss 17160897
nsv482951 CNV loss 15286789
nsv471113 CNV loss 18288195
nsv1926 CNV insertion 18451855
nsv1065973 CNV loss 25217958
esv3639554 CNV loss 21293372

Variation tolerance for MVD Gene

Residual Variation Intolerance Score: 75.8% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 2.34; 41.60% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for MVD Gene

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

SNP Genotyping and Copy Number Assay Products

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

Disorders for MVD Gene

MalaCards: The human disease database

(9) MalaCards diseases for MVD Gene - From: HGMD, OMIM, ClinVar, Orphanet, Swiss-Prot, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
porokeratosis 7, multiple types
  • porok7
  • porokeratosis of mibelli
linear porokeratosis
  • congenital facial linear porokeratosis
punctate porokeratosis
  • porokeratosis punctata palmaris et plantaris
waterhouse-friderichsen syndrome
  • wfs
- elite association - COSMIC cancer census association via MalaCards
Search MVD in MalaCards View complete list of genes associated with diseases


  • Porokeratosis 7, multiple types (POROK7) [MIM:614714]: 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:18823933, ECO:0000269 PubMed:26202976}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Additional Disease Information for MVD

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

No data available for Genatlas for MVD Gene

Publications for MVD Gene

  1. Molecular cloning and expression of the cDNAs encoding human and yeast mevalonate pyrophosphate decarboxylase. (PMID: 8626466) Toth MJ … Huwyler L (The Journal of biological chemistry 1996) 2 3 4 22 58
  2. 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 44 58
  3. Multiple genetic variants along candidate pathways influence plasma high-density lipoprotein cholesterol concentrations. (PMID: 18660489) Lu Y … Boer JM (Journal of lipid research 2008) 3 44 58
  4. Human mevalonate diphosphate decarboxylase: characterization, investigation of the mevalonate diphosphate binding site, and crystal structure. (PMID: 18823933) Voynova NE … Miziorko HM (Archives of biochemistry and biophysics 2008) 3 4 58
  5. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard DS … MGC Project Team (Genome research 2004) 3 4 58

Products for MVD Gene

Sources for MVD Gene

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