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Category   Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21
GIFtS

MVD Gene

protein-coding   GIFtS: 63
GCID: GC16M088718

Mevalonate (Diphospho) Decarboxylase

Microbiology & Infectious Diseases Congress
  See related diseases
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
About This Section

Aliases
Mevalonate (Diphospho) Decarboxylase1 2     FP177802
Mevalonate Pyrophosphate Decarboxylase1 2 3     Diphosphomevalonate Decarboxylase2
MDDase2 3     EC 4.1.1.333
MPD2 3     Mevalonate (Diphospho)Decarboxylase3

External Ids:    HGNC: 75291   Entrez Gene: 45972   Ensembl: ENSG000001675087   OMIM: 6032365   UniProtKB: P536023   

Export aliases for MVD gene to outside databases

Previous GC identifers: GC16M080154 GC16M089686 GC16M088421 GC16M088462 GC16M087245 GC16M074412


(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

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 (diphospho) decarboxylase) is a protein-coding gene. Diseases associated with MVD include 3-methylglutaconic aciduria, and adrenoleukodystrophy, and among its related super-pathways are Cholesterol biosynthesis and superpathway of geranylgeranyldiphosphate biosynthesis I (via mevalonate). GO annotations related to this gene include diphosphomevalonate decarboxylase activity and protein homodimerization activity.

UniProtKB/Swiss-Prot: MVD1_HUMAN, P53602
Function: Performs the first committed step in the biosynthesis of isoprenes




(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 73), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000016.9  NT_010542.15  NC_018927.2  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the MVD gene promoter:
         AhR   PPAR-alpha   Pax-5   Sp1   AP-1   p53   Arnt   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmids (see all 2): MVD promoter sequence
   Search SABiosciences Chromatin IP Primers for MVD

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat MVD


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 16q24.3   Ensembl cytogenetic band:  16q24.3   HGNC cytogenetic band: 16q24.3

MVD Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
MVD gene location

GeneLoc information about chromosome 16         GeneLoc Exon Structure

GeneLoc location for GC16M088718:  view genomic region     (about GC identifiers)

Start:
88,718,343 bp from pter      End:
88,729,569 bp from pter
Size:
11,227 bases      Orientation:
minus strand

(According to UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MAXQB RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Ontologies according to Gene Ontology Consortium 01 Oct 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
About This Section

UniProtKB/Swiss-Prot: MVD1_HUMAN, P53602 (See protein sequence)
Recommended Name: Diphosphomevalonate decarboxylase  
Size: 400 amino acids; 43405 Da
Subunit: Homodimer
1 PDB 3D structure from and Proteopedia for MVD:
3D4J (3D)    
Secondary accessions: Q53Y65

Explore the universe of human proteins at neXtProt for MVD: NX_P53602

Explore proteomics data for MVD at MOPED 

Post-translational modifications:

  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_P53602

  • MVD Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    MVD Protein Expression
    REFSEQ proteins: NP_002452.1  
    ENSEMBL proteins: 
     ENSP00000301012   ENSP00000455131   ENSP00000458049   ENSP00000455602   ENSP00000456465  
    Reactome Protein details: P53602
    Human Recombinant Protein Products for MVD: 
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    Novus Biologicals MVD Proteins
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    Browse Sino Biological Cell Lysates 
    ProSpec Recombinant Protein for MVD
    Cloud-Clone Corp. Proteins for MVD 

    Gene Ontology (GO): 2 cellular component terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005777NOT peroxisome IDA14972328
    GO:0005829cytosol TAS--

    MVD for ontologies           About GeneDecksing



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    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    IUPHAR Guide to PHARMACOLOGY protein family classification: diphosphomevalonate decarboxylase 
    Lanosterol biosynthesis pathway

    4 InterPro protein domains:
     IPR005935 Mev_diP_decarb
     IPR020568 Ribosomal_S5_D2-typ_fold
     IPR006204 GHMP_kinase_N_dom
     IPR014721 Ribosomal_S5_D2-typ_fold_subgr

    Graphical View of Domain Structure for InterPro Entry P53602

    ProtoNet protein and cluster: P53602

    UniProtKB/Swiss-Prot: MVD1_HUMAN, P53602
    Similarity: Belongs to the diphosphomevalonate decarboxylase family


    MVD for domains           About GeneDecksing


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
    bound targets from SABiosciences, miRNA Gene Targets from miRTarBase, shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Sirion Biotech, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, Vector BioLabs, and Sirion Biotech, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene.)
    About This Section

    Molecular Function:

         UniProtKB/Swiss-Prot Summary: MVD1_HUMAN, P53602
    Function: Performs the first committed step in the biosynthesis of isoprenes
    Catalytic activity: ATP + (R)-5-diphosphomevalonate = ADP + phosphate + isopentenyl diphosphate + CO(2)
    Biophysicochemical properties: Kinetic parameters: KM=7.4 uM for (R)-5-diphosphomevalonate; KM=0.32 mM for ATP;

         Enzyme Number (IUBMB): EC 4.1.1.331

         Gene Ontology (GO): 5 molecular function terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0004163diphosphomevalonate decarboxylase activity TAS--
    GO:0005524ATP binding IEA--
    GO:0016301kinase activity ----
    GO:0030544Hsp70 protein binding IPI12646231
    GO:0042803protein homodimerization activity IDA8626466
         
    MVD for ontologies           About GeneDecksing


    Phenotypes:
         1 GenomeRNAi human phenotype for MVD:
     Decreased Hepatitis C virus re 

         1 MGI phenotypic allele for Mvd (no phenotypes)

    MVD for phenotypes           About GeneDecksing

    Animal Models:
       inGenious Targeting Laboratory - Custom generated mouse model solutions for MVD 
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    Inhib. RNA
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    (Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene).
    About This Section

    SuperPaths for MVD About                                                                                                See pathways by source

    SuperPathContained pathways About
    1cholesterol biosynthesis III (via desmosterol)
    Cholesterol biosynthesis0.85
    Cholesterol biosynthesis0.62
    superpathway of cholesterol biosynthesis0.85
    2superpathway of geranylgeranyldiphosphate biosynthesis I (via mevalonate)
    superpathway of geranylgeranyldiphosphate biosynthesis I (via mevalonate)0.85
    Terpenoid backbone biosynthesis0.55
    mevalonate pathway I0.85
    3Regulation of Cholesterol Biosynthesis by SREBP (SREBF)
    Regulation of Cholesterol Biosynthesis by SREBP (SREBF)0.67
    SREBP signalling0.37
    Activation of Gene Expression by SREBP (SREBF)0.67
    4Metabolism
    Metabolism0.40
    Metabolism of lipids and lipoproteins0.34
    Metabolic pathways0.40

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways


    5 BioSystems Pathways for MVD
        Cholesterol biosynthesis
    SREBP signalling
    superpathway of cholesterol biosynthesis
    mevalonate pathway I
    superpathway of geranylgeranyldiphosphate biosynthesis I (via mevalonate)

    5        Reactome Pathways for MVD
        Metabolism
    Cholesterol biosynthesis
    Activation of Gene Expression by SREBP (SREBF)
    Metabolism of lipids and lipoproteins
    Regulation of Cholesterol Biosynthesis by SREBP (SREBF)


    2         Kegg Pathways  (Kegg details for MVD):
        Terpenoid backbone biosynthesis
    Metabolic pathways

    UniProtKB/Swiss-Prot: MVD1_HUMAN, P53602
    Pathway: Steroid biosynthesis; cholesterol biosynthesis


    MVD for pathways           About GeneDecksing

    Interactions:

        SABiosciences Gene Network CentralTM Interacting Genes and Proteins Network for MVD

    STRING Interaction Network Preview (showing 5 interactants - click image to see 18)

    5/87 Interacting proteins for MVD (P536022, 3 ENSP000003010124) via UniProtKB, MINT, STRING, and/or I2D (see all 87)

    InteractantInteraction Details
    GeneCardExternal ID(s)
    HIST1H4AP628053I2D: score=1 
    HIST1H4BP628053I2D: score=1 
    HIST1H4CP628053I2D: score=1 
    HIST1H4DP628053I2D: score=1 
    HIST1H4EP628053I2D: score=1 
    About this table

    Gene Ontology (GO): 4 biological process terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006695cholesterol biosynthetic process TAS--
    GO:0008284positive regulation of cell proliferation IMP9270019
    GO:0008299isoprenoid biosynthetic process IDA11792727
    GO:0044281small molecule metabolic process TAS--

    MVD for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
    About This Section

    MVD for compounds           About GeneDecksing

    Browse Small Molecules at EMD Millipore
    Browse drugs & compounds from Enzo Life Sciences

    Browse Tocris compounds for MVD (MVD1)

    7 HMDB Compounds for MVD    About this table
    CompoundSynonyms CAS #PubMed Ids
    (R)-Mevalonic acid-5-pyrophosphate1,1,3,7-tetrahydroxy-7-methyl-2,4-Dioxa-1,3-diphosphanonan-9-oic acid 1,3-dioxide (see all 15)1492-08-6--
    5-Diphosphomevalonic acid(R)-5-Diphosphomevalonate (see all 9)----
    ADPadenosindiphosphorsaeure (see all 8)58-64-0--
    Adenosine triphosphate5'-(tetrahydrogen triphosphate) Adenosine (see all 24)56-65-5--
    Carbon dioxideCarbon oxide (see all 5)124-38-9--
    Isopentenyl pyrophosphate3-Methyl-3-butenyl pyrophosphate (see all 13)358-71-4--
    PhosphateNFB Orthophosphate (see all 13)14265-44-2--

    3 IUPHAR Ligands for MVD (diphosphomevalonate decarboxylase)    About this table 
    LigandTypeActionAffinityPubmed IDs
    diphosphoglycolyl proline
    InhibitorCompetitive8.6418823933
    6-fluoromevalonate 5-diphosphate
    InhibitorCompetitive7.2118823933
    P'-geranyl 2-fluoromevalonate 5-diphosphate
    InhibitorCompetitive5.3818823933

    8 Novoseek inferred chemical compound relationships for MVD gene    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    mevalonate pyrophosphate 98.2 18 14972328 (3), 8626466 (2), 7947744 (2), 9600263 (1) (see all 9)
    6-fluoromevalonate 95.4 4 7712482 (1), 9270019 (1)
    phosphomevalonate 93.2 3 14680974 (1), 11188689 (1), 19485344 (1)
    mevalonate 83.7 9 7712482 (1), 9270019 (1), 14680974 (1), 11188689 (1) (see all 7)
    isopentenyl diphosphate 81.9 1 14680974 (1)
    lovastatin 76.4 4 9270019 (1), 9600263 (1), 15166627 (1)
    sterol 52.3 1 10344201 (1)
    cholesterol 34 3 8626466 (1), 15166627 (1), 15994924 (1)

    Search CenterWatch for drugs/clinical trials and news about MVD / MVD1

    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    Conferences by KenesGroup, exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    RNAi Products from EMD Millipore,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
    Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Sirion Biotech, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section

    REFSEQ mRNAs for MVD gene: 
    NM_002461.1  

    Unigene Cluster for MVD:

    Mevalonate (diphospho) decarboxylase
    Hs.252457  [show with all ESTs]
    Unigene Representative Sequence: AB209229
    17 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000565149(uc002flf.1) ENST00000301012(uc002flg.1) ENST00000562981
    ENST00000561895 ENST00000569177 ENST00000567064 ENST00000568133 ENST00000563785
    ENST00000568709 ENST00000563170 ENST00000566636 ENST00000565720 ENST00000562651
    ENST00000565610 ENST00000563463 ENST00000562741 ENST00000565842
    Congresses - knowledge worth sharing:  
    European Congress of Clinical Microbiology and Infectious Diseases (ECCMID) 10 - 13 May 2014

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    Additional mRNA sequence: 

    AB209229.1 AY203927.1 BC000011.2 BT006930.1 U49260.1 

    14 DOTS entries:

    DT.87016603  DT.75135260  DT.95087273  DT.100807303  DT.97847795  DT.95151588  DT.95151587  DT.101975975 
    DT.95151590  DT.100807305  DT.100807311  DT.102830477  DT.120668778  DT.120668799 

    24/268 AceView cDNA sequences (see all 268):

    BM823763 BG106398 BX340321 BX331219 BQ710385 BI825999 AI864951 AI201391 
    AW075275 T09119 BQ956062 BI759022 AI658536 AI336835 BQ641769 BU539564 
    BX458350 CA775934 BU538505 BF589947 BM910669 BM904107 AW103760 CD674084 

    GeneLoc Exon Structure

    5/20 Alternative Splicing Database (ASD) splice patterns (SP) for MVD (see all 20)    About this scheme

    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:                                      -     -     -                 -     -                       -     -                 -     -     -                     

    ExUns: 13b · 13c ^ 14a · 14b ^ 15a · 15b · 15c ^ 16 ^ 17a · 17b ^ 18
    SP1:        -                                                         
    SP2:        -                                                         
    SP3:        -                                                         
    SP4:        -                                                         
    SP5:                                                                  


    ECgene alternative splicing isoforms for MVD

    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

    MVD expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: GGGAATAAAC
    MVD Expression
    About this image


    See MVD Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for MVD

    SOURCE GeneReport for Unigene cluster: Hs.252457

    UniProtKB/Swiss-Prot: MVD1_HUMAN, P53602
    Tissue specificity: Expressed in heart, skeletal muscle, lung, liver, brain, pancreas, kidney and placenta

        SABiosciences Expression via Pathway-Focused PCR Array including MVD: 
              Lipoprotein Signaling & Cholesterol Metabolism in human mouse rat

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    In Situ
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    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
    About This Section

    This gene was present in the common ancestor of eukaryotes.

    Orthologs for MVD gene from 10/24 species (see all 24)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Mvd1 , 5 mevalonate (diphospho) decarboxylase1, 5 82.7(n)1
    84.63(a)1
      8 (71.05 cM)5
    1921561  NM_138656.21  NP_619597.21 
     1224335965 
    chicken
    (Gallus gallus)
    Aves MVD1 mevalonate (diphospho) decarboxylase 73.35(n)
    72.34(a)
      425359  XM_423130.3  XP_423130.3 
    lizard
    (Anolis carolinensis)
    Reptilia MVD6
    Uncharacterized protein
    68(a)
    1 ↔ 1
    GL343670.1(114376-128760)
    tropical clawed frog
    (Xenopus tropicalis)
    Amphibia LOC3948712 hypothetical protein LOC394871 75.54(n)    BC063907.1 
    zebrafish
    (Danio rerio)
    Actinopterygii zgc:1008241 zgc:100824 65.47(n)
    67.52(a)
      492781  NM_001007422.1  NP_001007423.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta CG82391 , 3 diphosphomevalonate decarboxylase3
    CG82391
    48(a)3
    54.27(n)1
    50.66(a)1
      13E143
    325201  NM_132840.41  NP_573068.31 
    worm
    (Caenorhabditis elegans)
    Secernentea Y48B6A.13b3   -- 40(a)
    (best of 2)
      II(14220908-14226145)   --
    baker's yeast
    (Saccharomyces cerevisiae)
    Saccharomycetes MVD1(YNR043W)4
    MVD11
    Mevalonate pyrophosphate decarboxylase, essential enzyme more4
    Mvd1p1
    48.99(n)1
    48.82(a)1
      14(701895-703085)4
    8557791, 4  NP_014441.11, 4 
    thale cress
    (Arabidopsis thaliana)
    eudicotyledons AT3G542501 diphosphomevalonate decarboxylase 52.79(n)
    53.05(a)
      824592  NM_115285.2  NP_566995.1 
    rice
    (Oryza sativa)
    Liliopsida Os.105432 Transcribed sequence with moderate similarity to protein more 75.21(n)    CB622472.1 


    ENSEMBL Gene Tree for MVD (if available)
    TreeFam Gene Tree for MVD (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
      --

    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
    About This Section

    10/436 SNPs in MVD are shown (see all 436)    About this table     
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 16 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs732586811,2
    C,F--88730861(+) CACGCG/CTGTAA 2 -- int11Minor allele frequency- C:0.50WA 2
    rs765320231,2
    C,F--89721511(+) GCTCTG/AAGCAT 1 -- int13Minor allele frequency- A:0.22WA NA EA 358
    rs1492487941,2
    C--89721526(+) AGTGGC/TCTGTA 1 -- int10--------
    rs1894712701,2
    --89721533(+) TGTAAG/TGTCCA 1 -- int10--------
    rs791718311,2
    F--89721591(+) GACACG/AGTAGG 1 -- int11Minor allele frequency- A:0.05WA 118
    rs1444208361,2
    C--89721596(+) GGTAGG/TGACAG 1 -- int10--------
    rs116489501,2
    C,F,A,H--89721614(+) CGCTTA/TGCCTT 1 -- int16Minor allele frequency- T:0.11NA WA EA 364
    rs1484825571,2
    C--89721669(+) ACCCCA/GGGGTA 1 -- int10--------
    rs1488334711,2
    C,F--89721715(+) ATGTAT/CTTGAC 2 /K syn12Minor allele frequency- C:0.00NA EU 5151
    rs1134972581,2
    C,F--89721726(+) CCCACC/TGGGGG 2 S G mis13Minor allele frequency- T:0.00CSA NA EU 5307

    HapMap Linkage Disequilibrium report for MVD (88718343 - 88729569 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 10/15 variations for MVD (see all 15):    About this table     
    Variant IDTypeSubtypePubMed ID
    nsv1926CNV Insertion18451855
    nsv907283CNV Loss21882294
    nsv471113CNV Loss18288195
    dgv2980n71CNV Loss21882294
    nsv907278CNV Loss21882294
    dgv2977n71CNV Loss21882294
    nsv907268CNV Loss21882294
    nsv907264CNV Loss21882294
    nsv907255CNV Loss21882294
    dgv2978n71CNV Loss21882294

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    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section
    OMIM gene information: 603236    OMIM disorders: --

    5 diseases for MVD:    About MalaCards
    3-methylglutaconic aciduria    adrenoleukodystrophy    pneumonia    glioblastoma
    pancreatitis

    1 disease from the University of Copenhagen DISEASES database for MVD:
    Waterhouse-Friderichsen syndrome

    MVD for disorders           About GeneDecksing

    Genetic Association Database (GAD): MVD
    Human Genome Epidemiology (HuGE) Navigator: MVD (19 documents)

    Export disorders for MVD gene to outside databases

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
    About This Section

    PubMed articles for MVD gene, integrated from 9 sources (see all 35):
    (articles sorted by number of sources associating them with MVD)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Molecular cloning and expression of the cDNAs encoding human and yeast mevalonate pyrophosphate decarboxylase. (PubMed id 8626466)1, 2, 3, 9 Toth M.J. and Huwyler L. (1996)
    2. Variation at the NFATC2 locus increases the risk of t hiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipr il and rosiglitazone Medication (DREAM) study. (PubMed id 20628086)1, 4 Bailey S.D....Anand S. (2010)
    3. Human mevalonate diphosphate decarboxylase: characterization, investigation of the mevalonate diphosphate binding site, and crystal structure. (PubMed id 18823933)1, 2 Voynova N.E....Miziorko H.M. (2008)
    4. Multiple genetic variants along candidate pathways influence plasma high-density lipoprotein cholesterol concentrations. (PubMed id 18660489)1, 4 Lu Y....Boer J.M. (2008)
    5. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)1, 2 Gerhard D.S....Malek J. (2004)
    6. Human mevalonate pyrophosphate decarboxylase is localized in the cytosol. (PubMed id 14972328)1, 9 Hogenboom S....Waterham H.R. (2004)
    7. Cholesterol biosynthesis is not defective in peroxisome biogenesis defective fibroblasts. (PubMed id 14680974)1, 9 Hogenboom S....Waterham H.R. (2003)
    8. Regulation of proliferation and Ras localization in transformed cells by products of mevalonate metabolism. (PubMed id 9270019)1, 9 Cuthbert J.A. and Lipsky P.E. (1997)
    9. Methods for quantification of in vivo changes in prote in ubiquitination following proteasome and deubiquitinase inhibition. (PubMed id 22505724)1 Udeshi N.D....Carr S.A. (2012)
    10. A high-throughput approach for measuring temporal chan ges in the interactome. (PubMed id 22863883)1 Kristensen A.R....Foster L.J. (2012)

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     ANDOR
    Aliases
    Free Text  

      Query String
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    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section
    Entrez Gene: 4597 HGNC: 7529 AceView: MVD Ensembl:ENSG00000167508 euGenes: HUgn4597
    ECgene: MVD Kegg: 4597 H-InvDB: MVD

    (According to HUGE)
    About This Section
      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
    Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
    About This Section
    NameDescription
    PharmGKB entry for MVD Pharmacogenomics, SNPs, Pathways

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section
    Patent Information for MVD gene:
    Search GeneIP for patents involving MVD

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



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    About This Section

     
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    GeneCards Homepage - Last full update: 23 Oct 2013 - Incrementals: 4 Nov 2013 , 7 Nov 2013 , 23 Jan 2014

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