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MVK Gene

protein-coding   GIFtS: 72
GCID: GC12P110012

Mevalonate Kinase

(Previous name: mevalonate kinase (mevalonic aciduria))
  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)
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Aliases
Mevalonate Kinase1 2     POROK32 5
LH Receptor MRNA-Binding Protein1 2     Mevalonate Kinase (Mevalonic Aciduria)1
MK2 3     Mevalonic Aciduria1
EC 2.7.1.363 8     LRBP2
MVLK2 5     Mevalonate Kinase 12

External Ids:    HGNC: 75301   Entrez Gene: 45982   Ensembl: ENSG000001109217   OMIM: 2511705   UniProtKB: Q034263   

Export aliases for MVK gene to outside databases

Previous GC identifers: GC12P109069 GC12P109850 GC12P109904 GC12P108474 GC12P107029


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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Entrez Gene summary for MVK Gene:
This gene encodes the peroxisomal enzyme mevalonate kinase. Mevalonate is a key intermediate, and mevalonate
kinase a key early enzyme, in isoprenoid and sterol synthesis. Mevalonate kinase deficiency caused by mutation of
this gene results in mevalonic aciduria, a disease characterized psychomotor retardation, failure to thrive,
hepatosplenomegaly, anemia and recurrent febrile crises. Defects in this gene also cause hyperimmunoglobulinaemia
D and periodic fever syndrome, a disorder characterized by recurrent episodes of fever associated with
lymphadenopathy, arthralgia, gastrointestinal dismay and skin rash. Two transcript variants that encode the same
protein have been found for this gene. (provided by RefSeq, Jul 2008)

GeneCards Summary for MVK Gene:
MVK (mevalonate kinase) is a protein-coding gene. Diseases associated with MVK include relapsing fever, and porokeratosis 3, disseminated superficial actinic. GO annotations related to this gene include mevalonate kinase activity and identical protein binding.

UniProtKB/Swiss-Prot: KIME_HUMAN, Q03426
Function: May be a regulatory site in cholesterol biosynthetic pathway

Gene Wiki entry for MVK (Mevalonate kinase) Gene


(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 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence:
NC_000012.12  NT_029419.13  NC_018923.2  
Regulatory elements:
   Regulatory transcription factor binding sites in the MVK gene promoter:
         SREBP-1a   SREBP-1c   SREBP-1b   
         Other transcription factors

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

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat MVK


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

Entrez Gene cytogenetic band: 12q24   Ensembl cytogenetic band:  12q24.11   HGNC cytogenetic band: 12q24

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

GeneLoc information about chromosome 12         GeneLoc Exon Structure

GeneLoc location for GC12P110012:  view genomic region     (about GC identifiers)

Start:
110,011,060 bp from pter      End:
110,035,071 bp from pter
Size:
24,012 bases      Orientation:
plus strand

(According to 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, 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., Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, Cloud-Clone Corp, and/or others.)
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UniProtKB/Swiss-Prot: KIME_HUMAN, Q03426 (See protein sequence)
Recommended Name: Mevalonate kinase  
Size: 396 amino acids; 42451 Da
Subunit: Homodimer
Sequence caution: Sequence=CAA53059.1; Type=Erroneous initiation; Note=Translation N-terminally shortened;
1 PDB 3D structure from and Proteopedia for MVK:
2R3V (3D)    

Explore the universe of human proteins at neXtProt for MVK: NX_Q03426

Explore proteomics data for MVK at MOPED

Post-translational modifications: 

  • Modification sites at neXtProt
  • Modification sites at PhosphoSitePlus
  • 2 DME Specific Peptides for MVK (Q03426)
     TGAGGGGC  LLVSAPGKVILHGEHAVVHGKVALA 


    See MVK Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins (2 alternative transcripts): 
    NP_000422.1  NP_001107657.1  

    ENSEMBL proteins: 
     ENSP00000440379   ENSP00000438153   ENSP00000415555   ENSP00000439134   ENSP00000228510  
     ENSP00000445382   ENSP00000443978   ENSP00000376487   ENSP00000443551   ENSP00000443182  
    Reactome Protein details: Q03426

    MVK Human Recombinant Protein Products:

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    Novus Biologicals MVK Proteins
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    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    IUPHAR Guide to PHARMACOLOGY protein family classification: mevalonate kinase
    Lanosterol biosynthesis pathway

    Selected InterPro protein domains (see all 7):
     IPR006206 Mevalonate/galactokinase
     IPR020568 Ribosomal_S5_D2-typ_fold
     IPR006203 GHMP_knse_ATP-bd_CS
     IPR006204 GHMP_kinase_N_dom
     IPR006205 Mev_gal_kin

    Graphical View of Domain Structure for InterPro Entry Q03426

    ProtoNet protein and cluster: Q03426

    2 Blocks protein domains:
    IPB006203 GHMP kinase
    IPB013750 GHMP kinase


    UniProtKB/Swiss-Prot: KIME_HUMAN, Q03426
    Similarity: Belongs to the GHMP kinase family. Mevalonate kinase subfamily


    MVK 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,
    transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Molecular Function:

         UniProtKB/Swiss-Prot Summary: KIME_HUMAN, Q03426
    Function: May be a regulatory site in cholesterol biosynthetic pathway
    Catalytic activity: ATP + (R)-mevalonate = ADP + (R)-5-phosphomevalonate
    Enzyme regulation: Farnesyl- and geranyl-pyrophosphates are competitive inhibitors

         Genatlas biochemistry entry for MVK:
    mevalonate kinase,homodimeric enzyme,peroxisomal,catalyzing an early step in the mevalonate pathway for the
    synthesis of isoprenoids and cholesterol,a structural component of membranes and precursor for bile acids and
    steroid hormones

         Enzyme Number (IUBMB): EC 2.7.1.361 2

         Gene Ontology (GO): 3 molecular function terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0004496mevalonate kinase activity TAS--
    GO:0005524ATP binding IEA--
    GO:0042802identical protein binding IPI16189514
         
    MVK for ontologies           About GeneDecksing


    Phenotypes:
         1 GenomeRNAi human phenotype for MVK:
     Decreased telomerase activity 

    Animal Models:
       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for MVK
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       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for MVK

    miRNA
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    miRTarBase miRNAs that target MVK:
    hsa-mir-124-3p (MIRT022207)

    Block miRNA regulation of human, mouse, rat MVK using miScript Target Protectors
    6 qRT-PCR Assays for microRNAs that regulate MVK:
    hsa-miR-920 hsa-miR-4254 hsa-miR-4300 hsa-miR-516a-3p hsa-miR-765 hsa-miR-516b*
    SwitchGear 3'UTR luciferase reporter plasmidMVK 3' UTR sequence
    Inhib. RNA
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    Predesigned siRNA for gene silencing in human, mouse, rat MVK

    Gene Editing
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    GenScript: all cDNA clones in your preferred vector (see all 2): MVK (NM_000431)
    Sino Biological Human cDNA Clone for MVK
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for MVK


    (According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Subcellular locations from UniProtKB/Swiss-Prot
    KIME_HUMAN, Q03426: Cytoplasm
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    cytosol5
    extracellular2
    peroxisome2
    endoplasmic reticulum1
    mitochondrion1
    nucleus1

    Gene Ontology (GO): 3 cellular component terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005737cytoplasm ----
    GO:0005777NOT peroxisome IDA14730012
    GO:0005829cytosol TAS--

    MVK for ontologies           About GeneDecksing


    (SuperPaths according to PathCards, Pathways according to 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 QIAGEN, 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 Apr 2014 via Entrez Gene).
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    SuperPaths for MVK About    
    See pathways by source

    SuperPathContained pathways About
    1superpathway of cholesterol biosynthesis
    superpathway of cholesterol biosynthesis0.85
    Terpenoid backbone biosynthesis0.34
    Cholesterol biosynthesis0.85
    superpathway of geranylgeranyldiphosphate biosynthesis I (via mevalonate)0.00
    Cholesterol biosynthesis0.62
    mevalonate pathway I0.00
    2Metabolism
    Metabolism0.38
    Metabolism of lipids and lipoproteins0.37
    Metabolic pathways0.38
    3Regulation of Cholesterol Biosynthesis by SREBP (SREBF)
    Regulation of Cholesterol Biosynthesis by SREBP (SREBF)0.75
    Activation of Gene Expression by SREBP (SREBF)0.75
    4Peroxisome
    Peroxisome

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways


    4 BioSystems Pathways for MVK
        Cholesterol biosynthesis
    mevalonate pathway I
    superpathway of cholesterol biosynthesis
    superpathway of geranylgeranyldiphosphate biosynthesis I (via mevalonate)


    2 Reactome Pathways for MVK
        Cholesterol biosynthesis
    Activation of gene expression by SREBF (SREBP)


    3 Kegg Pathways  (Kegg details for MVK):
        Terpenoid backbone biosynthesis
    Metabolic pathways
    Peroxisome

    UniProtKB/Swiss-Prot: KIME_HUMAN, Q03426
    Pathway: Isoprenoid biosynthesis; isopentenyl diphosphate biosynthesis via mevalonate pathway; isopentenyl
    diphosphate from (R)-mevalonate: step 1/3


    MVK for pathways           About GeneDecksing

        Pathway & Disease-focused RT2 Profiler PCR Array including MVK: 

              Lipoprotein Signaling & Cholesterol Metabolism in human mouse rat

    Interactions:

        GeneGlobe Interaction Network for MVK

    STRING Interaction Network Preview (showing 5 interactants - click image to see 17)

    Selected Interacting proteins for MVK (Q034261, 2, 3 ENSP000002285104) via UniProtKB, MINT, STRING, and/or I2D (see all 57)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    MVKQ034261, 2EBI-740630,EBI-740630 MINT-66092
    ENSG00000096150P622693I2D: score=2 
    ENSG00000223367P622693I2D: score=2 
    ENSG00000226225P622693I2D: score=2 
    ENSG00000235650P622693I2D: score=2 
    About this table

    Gene Ontology (GO): 5 biological process terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006695cholesterol biosynthetic process TAS--
    GO:0008299isoprenoid biosynthetic process IDA14680974
    GO:0019287isopentenyl diphosphate biosynthetic process, mevalonate pathway IEA--
    GO:0044281small molecule metabolic process TAS--
    GO:0050728negative regulation of inflammatory response IMP16732551

    MVK for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
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    Browse Small Molecules at EMD Millipore
       Browse drugs & compounds from Enzo Life Sciences
      Browse compounds at ApexBio 

    Browse Tocris compounds for MVK (KIME)

    4 HMDB Compounds for MVK    About this table
    CompoundSynonyms CAS #PubMed Ids
    ADPadenosindiphosphorsaeure (see all 8)58-64-0--
    Adenosine triphosphate5'-(tetrahydrogen triphosphate) Adenosine (see all 24)56-65-5--
    Mevalonic acid(3RS)-Mevalonate (see all 24)150-97-0--
    Mevalonic acid-5P(R)-5-phosphomevalonate (see all 11)73566-35-5--

    1 DrugBank Compound for MVK    About this table
    CompoundSynonyms CAS #TypeActionsPubMed Ids
    FARNESYL THIOPYROPHOSPHATE-- --target--10592235

    8 IUPHAR Ligands for MVK (mevalonate kinase)    About this table
    LigandTypeActionAffinityPubmed IDs
    farnesyl thiodiphosphate
    InhibitorInhibition7.5414679225
    trans,trans-farnesyl diphosphate
    InhibitorFeedback inhibition7.4718302342
    geranylgeranyl diphosphate
    InhibitorFeedback inhibition7.239392419
    geranyl diphosphate
    InhibitorFeedback inhibition6.949392419
    isopentenyl diphosphate
    InhibitorFeedback inhibition4.89392419
    dimethylallyl diphosphate
    InhibitorCompetitive4.79392419
    farnesol
    InhibitorCompetitive4.149392419
    dolichol phosphate
    InhibitorCompetitive4.089392419

    Selected Novoseek inferred chemical compound relationships for MVK gene (see all 30)    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    mevalonate 97.4 412 1331607 (9), 12509999 (7), 11111075 (6), 7904598 (6) (see all 99)
    phosphomevalonate 97.2 30 1713501 (2), 8576183 (2), 9647750 (1), 10449533 (1) (see all 25)
    mevalonate pyrophosphate 84 4 16524256 (2), 14680974 (1), 11188689 (1)
    geranylgeraniol 79.1 1 12384940 (1)
    isopentenyl diphosphate 78.4 8 10449533 (1), 8188698 (1), 8576183 (1), 10082320 (1) (see all 7)
    farnesyl diphosphate 78.4 14 8576183 (2), 11577991 (1), 10082320 (1), 7887956 (1) (see all 8)
    homoserine 77.5 3 15169949 (1), 19509290 (1), 19509296 (1)
    anakinra 74.8 2 17261617 (1), 17965046 (1)
    3-hydroxy-3-methylglutaryl-coa 72.6 8 2154659 (1), 12444096 (1), 15116060 (1), 18242710 (1) (see all 6)
    farnesol 72.2 1 12384940 (1)



    MVK for compounds           About GeneDecksing



    (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,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
    Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, and/or QIAGEN )
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    REFSEQ mRNAs for MVK gene (2 alternative transcripts): 
    NM_000431.2  NM_001114185.1  

    Unigene Cluster for MVK:

    Mevalonate kinase
    Hs.130607  [show with all ESTs]
    Unigene Representative Sequence: NM_000431
    13 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000539335 ENST00000546277 ENST00000535044 ENST00000447878 ENST00000539696
    ENST00000228510(uc001toy.4 uc009zvk.3 uc010sxr.2 uc001toz.4 uc021rdo.1 uc001tpc.4)
    ENST00000537237 ENST00000545774 ENST00000392727 ENST00000545516 ENST00000540353
    ENST00000539575 ENST00000541384
    miRNA
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    SwitchGear 3'UTR luciferase reporter plasmidMVK 3' UTR sequence
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    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat MVK
    Primer
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    Pre-validated RT2 qPCR Primer Assay in human, mouse, rat MVK
      QuantiTect SYBR Green Assays in human, mouse, rat MVK
      QuantiFast Probe-based Assays in human, mouse, rat MVK

    Additional mRNA sequence: 

    AB209722.1 AK293130.1 AK295338.1 AK315678.1 BC016140.1 M88468.1 

    11 DOTS entries:

    DT.95302612  DT.100821536  DT.100821547  DT.95302625  DT.448779  DT.91742299  DT.100821539  DT.100760289 
    DT.99952302  DT.102829748  DT.40119174 

    Selected AceView cDNA sequences (see all 241):

    BM923433 AA351436 BQ062266 BM848256 BQ057120 BU148423 BC016140 BQ677563 
    BX335798 CR593675 BQ218740 BM264283 CR596805 BI763169 BQ066678 BM263981 
    BG056052 CA866891 CK824740 BI753669 CB150594 BM918165 BM848139 CB265859 

    GeneLoc Exon Structure

    Selected Alternative Splicing Database (ASD) splice patterns (SP) for MVK (see all 12)    About this scheme

    ExUns: 1a · 1b · 1c · 1d ^ 2a · 2b · 2c ^ 3 ^ 4 ^ 5 ^ 6a · 6b · 6c ^ 7a · 7b ^ 8a · 8b · 8c ^ 9a · 9b · 9c ^ 10a · 10b ^ 11a · 11b · 11c ^
    SP1:                                                  -                                               -     -     -                                             
    SP2:                                                                                                  -     -     -     -     -                                 
    SP3:                                                  -     -     -     -     -                       -     -     -                                             
    SP4:                                                  -           -     -     -                       -     -     -                                             
    SP5:                                                  -           -     -     -                       -     -     -                                             

    ExUns: 12a · 12b
    SP1:            
    SP2:            
    SP3:            
    SP4:            
    SP5:            


    ECgene alternative splicing isoforms for MVK

    (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™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

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


    MVK expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 2) fully expand
     
     Brain (Nervous System)    fully expand to see all 4 entries
             Cerebral Cortex
     
     Neural Tube (Nervous System)    fully expand to see all 3 entries
             Metencephalon
    MVK Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    MVK Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.130607
        Pathway & Disease-focused RT2 Profiler PCR Array including MVK: 
              Lipoprotein Signaling & Cholesterol Metabolism in human mouse rat

    Primer
    Products:
    OriGene qPCR primer pairs and template standards for MVK
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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)
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    This gene was present in the common ancestor of eukaryotes.

    Orthologs for MVK gene from Selected species (see all 21)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Mvk1 , 5 mevalonate kinase1, 5 82.1(n)1
    81.17(a)1
      5 (55.99 cM)5
    178551  NM_023556.21  NP_076045.11 
     1144442695 
    chicken
    (Gallus gallus)
    Aves MVK1 mevalonate kinase 64.69(n)
    63.76(a)
      768555  XM_001231561.3  XP_001231562.3 
    African clawed frog
    (Xenopus laevis)
    Amphibia Xl.160532 Xenopus laevis transcribed sequence with weak similarity more 75.23(n)    BJ625293.1 
    zebrafish
    (Danio rerio)
    Actinopterygii Dr.149092 Transcribed sequence with weak similarity to protein more 77.62(n)    BM859711.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta CG336716
    --
    32(a)
    1 ↔ 1
    2R(8521671-8523646)
    worm
    (Caenorhabditis elegans)
    Secernentea mvk-11 mvk-1 46.36(n)
    40.16(a)
      175863  NM_001027698.3  NP_001022869.1 
    baker's yeast
    (Saccharomyces cerevisiae)
    Saccharomycetes ERG12(YMR208W)4
    ERG121
    Mevalonate kinase, acts in the biosynthesis of isoprenoids more4
    ERG121
    44.47(n)1
    35.01(a)1
      13(684467-685798)4
    8552481, 4  NP_013935.11, 4 
    thale cress
    (Arabidopsis thaliana)
    eudicotyledons MK1 MK 48.49(n)
    42.09(a)
      832804  NM_122627.5  NP_198097.1 
    rice
    (Oryza sativa)
    Liliopsida Os10g03293001 Os10g0329300 48.19(n)
    39.95(a)
      4348331  NM_001070895.1  NP_001064360.1 


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

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for MVK gene
    Selected SIMAP similar genes for MVK using alignment to 8 protein entries:     KIME_HUMAN (see all proteins) (see all similar genes):
    UBIAD1    NPLOC4    TSEN2    UTY    ZNF564    ZNF737
    SHANK2    ZNF283    AURA2    TMEM14B    QRICH2    ZNF738
    GLT8D2    FAM175A    TCF4    ZNF28    SEPT2    ERBB2

    MVK for paralogs           About GeneDecksing



    (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), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
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    Selected SNPs for MVK (see all 732)    About this table    
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 12 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs289348971,2,,4
    C,FHyperimmunoglobulinemia D and periodic fever syndrome (HIDS)4 pathogenic1109831740(+) CCGGCG/ATCTCC 4 /I /V mis1 ese32Minor allele frequency- A:0.00NS NA 4910
    VAR_0109614
    Hyperimmunoglobulinemia D and periodic fever syndrome (HIDS)4--see VAR_0109612 S L mis40--------
    VAR_0040244
    Mevalonic aciduria (MEVA)4--see VAR_0040242 I T mis40--------
    VAR_0295234
    Hyperimmunoglobulinemia D and periodic fever syndrome (HIDS)4--see VAR_0295232 V I mis40--------
    VAR_0295224
    Hyperimmunoglobulinemia D and periodic fever syndrome (HIDS)4--see VAR_0295222 G E mis40--------
    VAR_0295214
    Hyperimmunoglobulinemia D and periodic fever syndrome (HIDS)4--see VAR_0295212 G R mis40--------
    VAR_0040224
    Mevalonic aciduria (MEVA)4--see VAR_0040222 H P mis40--------
    VAR_0295274
    Hyperimmunoglobulinemia D and periodic fever syndrome (HIDS)4--see VAR_0295272 G V mis40--------
    VAR_0109644
    Mevalonic aciduria (MEVA)4--see VAR_0109642 T I mis40--------
    VAR_0109574
    Hyperimmunoglobulinemia D and periodic fever syndrome (HIDS)4--see VAR_0109572 L P mis40--------

    HapMap Linkage Disequilibrium report for MVK (110011060 - 110035071 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 2 variations for MVK:    About this table    
    Variant IDTypeSubtypePubMed ID
    dgv1490n71CNV Loss21882294
    nsv899514CNV Loss21882294

    Human Gene Mutation Database (HGMD): MVK
    Locus Specific Mutation Databases (LSDB): MVK

    Site Specific Mutation Identification with PCR Assays
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    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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    OMIM gene information: 251170   
    OMIM disorders: 610377  260920  175900  
    UniProtKB/Swiss-Prot: KIME_HUMAN, Q03426
  • Mevalonic aciduria (MEVA) [MIM:610377]: Accumulation of mevalonic acid which causes a variety of symptoms
    such as psychomotor retardation, dysmorphic features, cataracts, hepatosplenomegaly, lymphadenopathy, anemia,
    hypotonia, myopathy, and ataxia. Note=The disease is caused by mutations affecting the gene represented in this
    entry
  • Hyperimmunoglobulinemia D and periodic fever syndrome (HIDS) [MIM:260920]: Autosomal recessive disease
    characterized by recurrent episodes of unexplained high fever associated with skin rash, diarrhea, adenopathy
    (swollen, tender lymph nodes), arthralgias and/or arthritis. Concentration of IgD, and often IgA, are above
    normal. Note=The disease is caused by mutations affecting the gene represented in this entry

  • Selected diseases for MVK (see all 40):    
    About MalaCards
    relapsing fever    porokeratosis 3, disseminated superficial actinic    mevalonic aciduria    hyper-igd syndrome
    pyoderma    pyoderma gangrenosum    porokeratosis, disseminated superficial actinic 1    cervical adenitis
    blau syndrome    intestinal obstruction    porokeratosis    aphthous stomatitis
    stomatitis    familial mediterranean fever    rhizomelic chondrodysplasia punctata    autosomal recessive disease
    peroxisome disorders    zellweger syndrome    phenylketonuria    chondrodysplasia

    4 diseases from the University of Copenhagen DISEASES database for MVK:
    Mevalonic aciduria     Familial Mediterranean fever     Zellweger syndrome     Cervical adenitis

    MVK for disorders           About GeneDecksing

    Selected Novoseek inferred disease relationships for MVK gene (see all 21)    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    hyper-igd syndrome 93.3 5 18008182 (2), 10949735 (1), 15116060 (1), 15037710 (1)
    tumor necrosis factor receptor-associated periodic syndrome 86 4 19644432 (1), 19786432 (1), 15059033 (1)
    familial mediterranean fever 83.7 10 19028365 (1), 19644432 (1), 18368292 (1), 19786432 (1) (see all 9)
    relapsing fever 82.4 7 15536479 (2), 19644432 (1), 17804452 (1), 19531764 (1) (see all 5)
    blau syndrome 80.5 4 19644432 (1), 15059033 (1), 16466630 (1)
    cinca syndrome 76.3 1 19804406 (1)
    zellweger syndrome 67.9 5 8188698 (1), 9686383 (1), 8739963 (1)
    deficiency diseases 67.6 1 8188698 (1)
    lymphadenopathy 64.2 2 12563048 (1), 18368292 (1)
    pyoderma gangrenosum 61 6 17213252 (1), 16466630 (1)

    Genetic Association Database (GAD): MVK
    Human Genome Epidemiology (HuGE) Navigator: MVK (18 documents)

    Export disorders for MVK 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)
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    PubMed articles for MVK gene, integrated from 10 sources (see all 185):
    (articles sorted by number of sources associating them with MVK)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Molecular cloning of human mevalonate kinase and identification of a missense mutation in the genetic disease mevalonic aciduria. (PubMed id 1377680)1, 2, 3, 9 Schafer B.L.... Tanaka R.D. (J. Biol. Chem. 1992)
    2. Carrier frequency of the V377I (1129G&gt;A) MVK mutation, associated with Hyper-IgD and periodic fever syndrome, in the Netherlands. (PubMed id 12634869)1, 4, 9 Houten S.M....Waterham H.R. (Eur. J. Hum. Genet. 2003)
    3. Molecular analysis of MVK mutations and enzymatic activity in hyper- IgD and periodic fever syndrome. (PubMed id 11313769)1, 2, 9 Cuisset L....Delpech M. (Eur. J. Hum. Genet. 2001)
    4. Mutations in MVK, encoding mevalonate kinase, cause hyperimmunoglobulinaemia D and periodic fever syndrome. (PubMed id 10369261)1, 2, 9 Houten S.M....Poll-The B.T. (Nat. Genet. 1999)
    5. Organization of the mevalonate kinase (MVK) gene and identification of novel mutations causing mevalonic aciduria and hyperimmunoglobulinaemia D and periodic fever syndrome. (PubMed id 11313768)1, 2, 9 Houten S.M.... Waterham H.R. (Eur. J. Hum. Genet. 2001)
    6. Mutations in the gene encoding mevalonate kinase cause hyper-IgD and periodic fever syndrome. (PubMed id 10369262)1, 2, 9 Drenth J.P.H.... Delpech M. (Nat. Genet. 1999)
    7. Insertional activation of mevalonate kinase by hepatitis B virus DNA in a human hepatoma cell line. (PubMed id 8302606)1, 2, 9 Graef E.... Koshy R. (Oncogene 1994)
    8. MVK mutations and associated clinical features in Italian patients affected with autoinflammatory disorders and recurrent fever. (PubMed id 15536479)1, 2, 9 D'Osualdo A.... Ceccherini I. (Eur. J. Hum. Genet. 2005)
    9. Mevalonate kinase is a cytosolic enzyme in humans. (PubMed id 14730012)1, 2, 9 Hogenboom S....Waterham H.R. (J. Cell Sci. 2004)
    10. Autoinflammatory gene mutations in BehAset's disease. (PubMed id 17213252)1, 4, 9 KonAc-Paut I....Touitou I. (Ann. Rheum. Dis. 2007)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     ANDOR
    Aliases
    Disorders
    Free Text  

      Query String
    PubMed
    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)
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    Entrez Gene: 4598 HGNC: 7530 AceView: MVK Ensembl:ENSG00000110921 euGenes: HUgn4598
    ECgene: MVK Kegg: 4598 H-InvDB: MVK

    (According to HUGE)
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      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
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    NameDescription
    PharmGKB entry for MVK Pharmacogenomics, SNPs, Pathways
    INFEVERShttp://fmf.igh.cnrs.fr/ISSAID/infevers/search.php?n=3
    GeneReviewshttp://www.ncbi.nlm.nih.gov/books/NBK1116/?term=MVK[genesymbol]

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

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



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