MVK Gene
protein-coding GIFtS: 67
GCID: GC12P110012
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|
mevalonate kinase(Previous name: mevalonate kinase (mevalonic aciduria) )
| |
Aliases
for MVK gene
(According to
1HGNC,
2Entrez Gene,
3UniProtKB/Swiss-Prot,
4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc,
7Ensembl,
8DME,
9miRBase,
and/or 10fRNAdb)
About This Section
|
| Aliases |
|---|
| Mevalonate Kinase1 2 | | Mevalonate Kinase (Mevalonic Aciduria)1 | | MK1 2 3 | | POROK32 | | LRBP1 2 | | LH Receptor MRNA-Binding Protein2 | | EC 2.7.1.363 8 | | Mevalonate Kinase 12 | | MVLK2 5 | | |
Export aliases for MVK gene to outside databasesPrevious GC identifers: GC12P109069 GC12P109850 GC12P109904 GC12P108474 GC12P107029 |
Summaries
for MVK gene(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 MVK:
This gene encodes the peroxisomal enzyme mevalonate kinase. Mevalonate is a key intermediate, and mevalonate kinase akey early enzyme, in isoprenoid and sterol synthesis. Mevalonate kinase deficiency caused by mutation of this generesults 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 feversyndrome, 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 thisgene. (provided by RefSeq, Jul 2008)
UniProtKB/Swiss-Prot: KIME_HUMAN, Q03426Function: May be a regulatory site in cholesterol biosynthetic pathway
Gene Wiki entry for MVK (Mevalonate kinase)
|
Genomic Views
for MVK 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 69),
Regulatory elements and Epigenetics data according to
QIAGEN,
SABiosciences, and/or
SwitchGear Genomics)
About This Section
| RefSeq DNA sequence:- NC_000012.11 NC_018923.1 NT_009775.17
Regulatory elements:
 SABiosciences Regulatory transcription factor binding sites in the MVK gene promoter:
SREBP-1a SREBP-1c SREBP-1b
Other transcription factors
Search SABiosciences Chromatin IP Primers for MVK
Epigenetics:
| | QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays 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: 12q24MVK Gene in genomic location: bands according to Ensembl, locations according to
 (and/or Entrez Gene and/or Ensembl if different)
GeneLoc information about chromosome 12 GeneLoc Exon Structure GeneLoc location for GC12P110012: view genomic region
(about GC identifiers)
Start:
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110,011,060 bp from pter |
End:
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110,035,071 bp from pter |
Size:
|
24,012 bases |
Orientation:
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plus strand |
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Proteins
for MVK gene
(According to
1UniProtKB,
HORDE,
neXtProt,
Ensembl,
and/or Reactome,
Modification sites according to 2PhosphoSitePlus,
Specific Peptides from DME,
Protein expression images according to data from SPIRE MOPED and PaxDb,
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
Uscn,
Biochemical Assays by
EMD Millipore,
R&D Systems,
OriGene,
GenScript,
Cell Signaling Technology,
Enzo Life Sciences, and/or
Uscn,
Ontologies according to Gene
Ontology Consortium 01 Mar 2013 and
Entrez Gene,
Antibodies by
EMD Millipore,
R&D Systems,
GenScript,
Cell Signaling Technology,
OriGene,
Novus Biologicals,
Thermo Fisher Scientific,
Abcam, and/or
Uscn)
About This Section
|
UniProtKB/Swiss-Prot: KIME_HUMAN, Q03426 (See
protein sequence)Recommended Name: Mevalonate kinase Size: 396 amino acids; 42451 Da
Subunit: Homodimer
Subcellular location: Cytoplasm
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
Post-translational modifications:
View modification sites using PhosphoSitePlus2View neXtProt modification sites for NX_Q03426
2 DME Specific Peptides for MVK (Q03426)
MVK Protein expression data from MOPED and PaxDb: About this image 
REFSEQ proteins (2 alternative transcripts):
NP_000422.1 NP_001107657.1
ENSEMBL proteins: ENSP00000440379 ENSP00000438153 ENSP00000415555 ENSP00000439134 ENSP00000228510 ENSP00000445382 ENSP00000443978 ENSP00000376487 ENSP00000439326 ENSP00000443551 ENSP00000443182 Reactome Protein details: Q03426
Human Recombinant Protein Products:
Gene Ontology (GO): 3 cellular component terms (GO ID links to tree view): About this table
MVK for ontologies About GeneDecksing
MVK Antibody Products:
Assay Products for MVK: |
Protein
Domains /
Families
for MVK gene(According to InterPro, ProtoNet,
UniProtKB, and/or BLOCKS,
Sets of similar genes according to GeneDecks)
About This Section
|
MVK for domains About GeneDecksing
5/7 InterPro domains/families (see all 7):Graphical View of Domain Structure for InterPro Entry Q03426ProtoNet protein and cluster: Q03426 2 Blocks protein families: IPB006203 GHMP kinase IPB013750 GHMP kinase
UniProtKB/Swiss-Prot: KIME_HUMAN, Q03426Similarity: Belongs to the GHMP kinase family. Mevalonate kinase subfamily |
Function
for MVK gene
(According to 1UniProtKB,
Genatlas,
LifeMap Discovery™,
IUBMB, and/or
2DME,
Human phenotypes from GenomeRNAi,
Animal models from MGI Mar 06 2013,
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,
Clones from EMD Millipore,
OriGene,
SwitchGear Genomics,
GenScript,
Sino Biological,
DNA2.0,
and Vector BioLabs,
Cell Lines from GenScript,
LifeMap BioReagents,
In Situ Hybridization Assays from Advanced Cell Diagnostics,
Ontologies according to Gene Ontology Consortium 01 Mar 2013 via
Entrez Gene.)
About This Section
|
Function Summary:
UniProtKB/Swiss-Prot: KIME_HUMAN, Q03426Function: May be a regulatory site in cholesterol biosynthetic pathwayCatalytic activity: ATP + (R)-mevalonate = ADP + (R)-5-phosphomevalonateEnzyme 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 synthesisof 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
Clone
Products: |  | Browse Clones for the Expression of Recombinant Proteins Available from EMD Millipore | |  | OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for MVK (see all 4)
OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for MVK (see all 2)
OriGene custom cloning services – gene synthesis, subcloning, mutagenesis,
variant library, vector shuttling 
| |  | GenScript: all cDNA clones in your preferred vector (see all 2): MVK (NM_000431) | |  | Browse Sino Biological Human cDNA Clones | |  | DNA2.0 Custom Codon Optimized Gene
Synthesis Service for MVK | |  | Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat MVK |
In Situ Assay
Products: |
 | Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for MVK |
Gene Ontology (GO): 3 molecular function terms (GO ID links to tree view): About this table
MVK for ontologies About GeneDecksing
1 GenomeRNAi human phenotype for MVK:
|
Pathways & Interactions
for MVK gene
(Pathways according to
EMD Millipore,
R&D Systems,
Cell Signaling Technology,
KEGG,
PharmGKB,
BioSystems,
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 Mar 2013 via
Entrez Gene).
About This Section
|
Unified GeneCards pathways - 5/6 super-pathways (see all 6) About this table
See pathways by source
| Super-pathway | contained gene-specific pathways |
|---|
| 1 | Metabolism | | | 2 | superpathway of geranylgeranyldiphosphate biosynthesis I (via mevalonate) | | | 3 | Cholesterol biosynthesis | | | 4 | Regulation of Cholesterol Biosynthesis by SREBP (SREBF) | | | 5 | Expression of Mevalonate Kinase (MVK) | |
Pathway sources
See GeneCards unified pathways
Show all pathways
4  BioSystems Pathways for MVK
5/6 
Reactome Pathways for MVK (see all 6)
3 
Kegg Pathways (Kegg details for MVK):
UniProtKB/Swiss-Prot: KIME_HUMAN, Q03426Pathway: Isoprenoid biosynthesis; isopentenyl diphosphate biosynthesis via mevalonate pathway; isopentenyl diphosphatefrom (R)-mevalonate: step 1/3
MVK for pathways About GeneDecksing
Interactions:
SABiosciences Gene Network CentralTM Interacting Genes and Proteins Network for MVK
STRING Interaction
Network Preview (showing 5 interactants - click image to see 15)
5/52 Interacting proteins for MVK (Q034261, 2, 3 ENSP000002285104) via UniProtKB, MINT, STRING, and/or I2D (see all 52)
About this table
Gene Ontology (GO): 5 biological process terms (GO ID links to tree view): About this table | GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|
| GO:0006695 | cholesterol biosynthetic process |
TAS | -- | | GO:0008299 | isoprenoid biosynthetic process |
IDA | 14730012 | | GO:0019287 | isopentenyl diphosphate biosynthetic process, mevalonate pathway |
IEA | -- | | GO:0044281 | small molecule metabolic process |
TAS | -- | | GO:0050728 | negative regulation of inflammatory response |
IMP | 16732551 |
MVK for ontologies About GeneDecksing
|
Drugs & Compounds
for MVK gene(Chemical Compounds according to UniProtKB, Enzo Life Sciences,
EMD Millipore, Tocris Bioscience
HMDB,
BitterDB, and/or
Novoseek, and Drugs according to
DrugBank,
Enzo Life Sciences, and/or
PharmGKB, with drugs/clinical trials/news
search links to CenterWatch)
About This Section
|
MVK for compounds About GeneDecksing
 Browse Tocris compounds for MVK
4 HMDB Compounds for MVK About this table
1 DrugBank Compound for MVK About this table
10/30 Novoseek 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) |
Search CenterWatch for drugs/clinical trials and news about MVK / KIME
|
Transcripts
for MVK gene(Secondary structures according to
fRNAdb,
GenBank/EMBL/DDBJ Accessions according to
Unigene
(Build 235 Homo sapiens; Mar 10 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,
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,
Primers from
OriGene,
SABiosciences, and/or
QIAGEN
)
About This Section
|
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_00043113 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
Clone
Products: | | OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for MVK (see all 4)
OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for MVK (see all 2)
OriGene custom cloning services – gene synthesis, subcloning, mutagenesis,
variant library, vector shuttling
| | | GenScript: all cDNA clones in your preferred vector (see all 2): MVK (NM_000431) | | | DNA2.0 Custom Codon Optimized Gene
Synthesis Service for MVK | | | Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat MVK |
Additional cDNA 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 24/241 AceView cDNA sequences (see all 241): CR622040 BM923433 BQ677563 BU678260 BM792810 BQ057978 BI753669 BQ062266 BX335798 BG056052 BU148423 N40752 BM974416 BU552526 BU543288 BM918165 BI763169 BM263981 BQ919058 CR593675 BU168679 AK023087 BM264137 CB150594
GeneLoc Exon Structure
5/12 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
|
Expression
for MVK gene
(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
| MVK expression in normal human tissues (normalized intensities)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS
CGAP TAG: GTCTGCCCTC
About this image
See MVK Protein Expression from SPIRE MOPED and PaxDB
Genevestigator expression for MVK
SOURCE GeneReport for Unigene cluster: Hs.130607
SABiosciences Expression via Pathway-Focused PCR Array including MVK: | Lipoprotein Signaling & Cholesterol Metabolism in human mouse rat |
Primer
Products: | | OriGene genome-wide validated SYBR primer pairs in human, mouse, rat for MVK
Browse OriGene validated miRNA SYBR primer pairs
| | | SABiosciences RT2 qPCR Primer Assay in human, mouse, rat MVK | | | QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat MVK | | | QIAGEN QuantiFast Probe-based Assays in human, mouse, rat MVK | In Situ
Assay Products: |
| Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for MVK |
Orthologs
for MVK gene
(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 MVK gene from 9/28 species (see all 28) About this table
ENSEMBL Gene Tree for MVK (if available)
TreeFam Gene Tree for MVK (if available) |
Paralogs
for MVK gene(Paralogs according to
1HomoloGene,
2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
About This Section
| -- |
Genomic Variants
for MVK gene(SNPs/Variants according to the
1NCBI SNP Database,
2Ensembl,
3PupaSUITE,
UniProtKB, 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
|
| Genomic Data | Transcription Related Data | Allele Frequencies | | SNP ID | Valid | Clinical
significance | Chr 12 pos | Sequence | # | AA
Chg | Type | More | # | Allele
freq | Pop | Total
sample | More |
|---|
HapMap Linkage Disequilibrium report for MVK (110011060 - 110035071 bp)
Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
Database of Genomic Variants (DGV) variations for MVK: --
Human Gene Mutation Database (HGMD): MVK
Locus Specific Mutation Databases (LSDB): MVK
| SABiosciences Cancer Mutation PCR Assays |
| | QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing MVK |
|
Disorders
/ Diseases
for MVK gene
(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.)
About This Section
|
MVK for disorders About GeneDecksing
OMIM gene information: 251170
OMIM disorders: 610377 260920
UniProtKB/Swiss-Prot: KIME_HUMAN, Q03426
Defects in MVK are the cause of mevalonic aciduria (MEVA) [MIM:610377]. It is an accumulation of mevalonicacid which causes a variety of symptoms such as psychomotor retardation, dysmorphic features, cataracts,hepatosplenomegaly, lymphadenopathy, anemia, hypotonia, myopathy, and ataxia Defects in MVK are the cause of hyperimmunoglobulinemia D and periodic fever syndrome (HIDS) [MIM:260920].HIDS is an autosomal recessive disease characterized by recurrent episodes of unexplained high fever associated withskin rash, diarrhea, adenopathy (swollen, tender lymph nodes), athralgias and/or arthritis. Concentration of IgD, andoften IgA, are above normal
20/39  diseases for MVK (see all 39): About MalaCardsmevalonic aciduria periodic fever hyper-igd syndrome chondrodysplasia punctata
pyoderma gangrenosum rhizomelic chondrodysplasia punctata familial mediterranean fever anemia
relapsing fever cinca syndrome blau syndrome pyoderma
aphthous stomatitis cervical adenitis chondrodysplasia zellweger syndrome
autosomal recessive disease dyserythropoietic anemia metabolic disorders intestinal obstruction
4 diseases from the University of Copenhagen DISEASES database for MVK:Mevalonic aciduria Familial Mediterranean fever Cervical adenitis Aphthous stomatitis 10/21 Novoseek 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
|
Publications
for MVK gene (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 MVK gene, integrated from 9 sources (see all 178):
(articles sorted by number of sources associating them with MVK) | |  | Utopia: connect your pdf to the dynamic
world of online information |
- 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. (1992)
- Carrier frequency of the V377I (1129G>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. (2003)
- 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. (2001)
- 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. (1999)
- 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. (2001)
- 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. (1999)
- 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. (1994)
- 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. (2005)
- Mevalonate kinase is a cytosolic enzyme in humans. (PubMed id 14730012)1, 2, 9 Hogenboom S....Waterham H.R. (2004)
- Identification of a mutation cluster in mevalonate kinase deficiency, including a new mutation in a patient of Mennonite ancestry. (PubMed id 10417275)1, 2, 9 Hinson D.D.... Gibson K.M. (1999)
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External Searches for MVK gene
(in PubMed,
OMIM, and NCBI Bookshelf)
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Genome Databases showing MVK gene
(According to
Entrez Gene,
HGNC,
AceView,
euGenes,
Ensembl,
miRBase,
ECgene,
Kegg,
and/or
H-InvDB)
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Other Databases showing MVK gene
(According to HUGE)
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Specialized Databases showing MVK gene(According to PharmGKB,
ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
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|
| Name | Description |
| PharmGKB entry for MVK | Pharmacogenomics, SNPs, Pathways | | INFEVERS | http://fmf.igh.cnrs.fr/ISSAID/infevers/search.php?n=3 | | GeneReviews | http://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/MVK |
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About This Section
| 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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Products
for MVK gene(Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, SABiosciences, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Uscn, Thermo Fisher Scientific, Gene Editing from DNA2.0, Clones from EMD Millipore, OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Cell lines from GenScript and LifeMap BioReagents, PCR Arrays from SABiosciences, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, and/or
Enzo Life Sciences),
In Situ Hybridization Assays from
Advanced Cell Diagnostics
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| | |  | OriGene Antibodies for MVK | | OriGene shRNA RFP for MVK | | | OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for MVK | | OriGene genome-wide validated SYBR primer pairs in human, mouse, rat for MVK | | | OriGene Protein Over-expression Lysate for MVK | | Browse OriGene Fluorogenic Cell Assay Kits | | | OriGene siRNA for MVK | | OriGene 3'-UTR Clone for MVK | | | OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for MVK | | OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for MVK | | | Browse OriGene GFP tagged cDNA clones in CMV expression vector | | Browse OriGene MicroRNA Expression Plasmids | | | Browse OriGene basic RS shRNAs | | Browse OriGene validated miRNA SYBR primer pairs | | | OriGene Purified Protein for MVK | | OriGene custom cloning services - gene synthesis, subcloning, mutagenesis,
variant library, vector shuttling | | | OriGene Custom Antibody Services for MVK | | OriGene Custom Protein Services for MVK | | | OriGene Custom Immunoassay Development | | |
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| | | QIAGEN Custom miScript Target Protector blocks miRNA-binding site of in human, mouse, rat MVK | | | QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing MVK | | | QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat MVK | | | QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat MVK | | | QIAGEN QuantiFast Probe-based Assays in human, mouse, rat MVK | | | QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat MVK |
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| | | | Search Tocris compounds for MVK |
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 | | | MVK Proteins, Antibodies, CLIAs, and ELISAs |
| | | | | Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for MVK |
|  |  |  | | | | ThermoFisher Antibodies for MVK |
| | | Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat MVK |
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