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... See more...

Aliases for MVK Gene

Aliases for MVK Gene

  • Mevalonate Kinase 2 3 4 5
  • MK 2 3 4
  • LH Receptor MRNA-Binding Protein 2 3
  • EC 2.7.1.36 4 51
  • LRBP 2 3
  • Mevalonate Kinase (Mevalonic Aciduria) 2
  • Mevalonate Kinase 1 3
  • Mevalonic Aciduria 2
  • POROK3 3
  • MVLK 3
  • MVK 5

External Ids for MVK Gene

Previous GeneCards Identifiers for MVK Gene

  • GC12P109069
  • GC12P109850
  • GC12P109904
  • GC12P108474
  • GC12P110012
  • GC12P107029

Summaries for MVK Gene

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. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2014]

GeneCards Summary for MVK Gene

MVK (Mevalonate Kinase) is a Protein Coding gene. Diseases associated with MVK include Mevalonic Aciduria and Hyper-Igd Syndrome. Among its related pathways are Terpenoid backbone biosynthesis and Metabolism. Gene Ontology (GO) annotations related to this gene include identical protein binding and mevalonate kinase activity. An important paralog of this gene is GALK1.

UniProtKB/Swiss-Prot Summary for MVK Gene

  • Catalyzes the phosphorylation of mevalonate to mevalonate 5-phosphate, a key step in isoprenoid and cholesterol biosynthesis (PubMed:9325256, PubMed:18302342, PubMed:9392419, PubMed:11278915).

Gene Wiki entry for MVK Gene

No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for MVK Gene

Genomics for MVK Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for MVK Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH12J109571 Promoter/Enhancer 2.3 EPDnew Ensembl ENCODE CraniofacialAtlas 609.1 +0.2 234 3.8 BRCA1 SP1 CREB1 GATAD2A ATF7 PRDM10 ZNF629 TFE3 RFX1 IKZF1 MVK HSALNG0093900 MMAB lnc-KCTD10-2 KCTD10 UBE3B ANAPC7 RNU4-32P GPN3 MYO1H
GH12J109713 Promoter/Enhancer 2 Ensembl ENCODE CraniofacialAtlas dbSUPER 10.9 +144.0 144024 8.2 SP1 HNRNPL CREB1 GATAD2A CTCF ZBTB33 ZNF629 TFE3 RFX1 SIX5 MMAB MVK RNU4-32P TRPV4 GLTP HVCN1 FAM222A lnc-MVK-2 piR-50443-091
GH12J109517 Enhancer 1 Ensembl ENCODE dbSUPER 19.8 -54.0 -53971 3.4 CTCF REST RAD21 TRIM22 SMC3 POLR2A RCOR1 ZNF654 BHLHE40 YY1 KCTD10 MVK FAM222A-AS1 RNU4-32P MMAB ENSG00000255655 piR-41954 piR-30922 UBE3B
GH12J109540 Enhancer 0.9 Ensembl ENCODE dbSUPER 20.8 -31.1 -31087 3 ZNF23 ZBTB17 RCOR1 CTCF NR2C2 SMAD4 RARA CHD2 GATA2 MLLT1 HSALNG0093893 KCTD10 MVK MMAB RNU4-32P MYO1H piR-41954 UBE3B
GH12J109457 Promoter/Enhancer 2 FANTOM5 Ensembl ENCODE CraniofacialAtlas dbSUPER 8.5 -110.2 -110238 11.2 CEBPG TEAD4 PRDM10 ZNF629 LEF1 IKZF1 JUND GABPA PRDM1 ZIC2 KCTD10 MYO1H TRPV4 UBE3B MVK ENSG00000255655
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around MVK on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for MVK

Top Transcription factor binding sites by QIAGEN in the MVK gene promoter:
  • SREBP-1a
  • SREBP-1b
  • SREBP-1c

Genomic Locations for MVK Gene

Genomic Locations for MVK Gene
chr12:109,573,255-109,598,125
(GRCh38/hg38)
Size:
24,871 bases
Orientation:
Plus strand
chr12:110,011,060-110,035,071
(GRCh37/hg19)
Size:
24,012 bases
Orientation:
Plus strand

Genomic View for MVK Gene

Genes around MVK on UCSC Golden Path with GeneCards custom track

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

RefSeq DNA sequence for MVK Gene

Proteins for MVK Gene

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

    Protein Symbol:
    Q03426-KIME_HUMAN
    Recommended name:
    Mevalonate kinase
    Protein Accession:
    Q03426

    Protein attributes for MVK Gene

    Size:
    396 amino acids
    Molecular mass:
    42451 Da
    Cofactor:
    Name=Mg(2+); Xref=ChEBI:CHEBI:18420;
    Quaternary structure:
    • Homodimer.
    SequenceCaution:
    • Sequence=CAA53059.1; Type=Erroneous initiation; Note=Extended N-terminus.; Evidence={ECO:0000305};

    Three dimensional structures from OCA and Proteopedia for MVK Gene

neXtProt entry for MVK Gene

Selected DME Specific Peptides for MVK Gene

Q03426:
  • TGAGGGGC
  • LLVSAPGKVILHGEHAVVHGKVALA

Post-translational modifications for MVK Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Domains & Families for MVK Gene

Gene Families for MVK Gene

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

Protein Domains for MVK Gene

Suggested Antigen Peptide Sequences for MVK Gene

GenScript: Design optimal peptide antigens:
  • cDNA, FLJ96772, Homo sapiens mevalonate kinase (mevalonic aciduria) (MVK), mRNA (B2RDU6_HUMAN)
  • cDNA FLJ57872, highly similar to Mevalonate kinase (EC 2.7.1.36) (B7Z1C2_HUMAN)
  • Mevalonate kinase (KIME_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q03426

UniProtKB/Swiss-Prot:

KIME_HUMAN :
  • Belongs to the GHMP kinase family. Mevalonate kinase subfamily.
Family:
  • Belongs to the GHMP kinase family. Mevalonate kinase subfamily.
genes like me logo Genes that share domains with MVK: view

Function for MVK Gene

Molecular function for MVK Gene

UniProtKB/Swiss-Prot Function:
Catalyzes the phosphorylation of mevalonate to mevalonate 5-phosphate, a key step in isoprenoid and cholesterol biosynthesis (PubMed:9325256, PubMed:18302342, PubMed:9392419, PubMed:11278915).
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=(R)-mevalonate + ATP = (R)-5-phosphomevalonate + ADP + H(+); Xref=Rhea:RHEA:17065, ChEBI:CHEBI:15378, ChEBI:CHEBI:30616, ChEBI:CHEBI:36464, ChEBI:CHEBI:58146, ChEBI:CHEBI:456216; EC=2.7.1.36; Evidence={ECO:0000269|PubMed:11278915, ECO:0000269|PubMed:18302342, ECO:0000269|PubMed:9325256, ECO:0000269|PubMed:9392419};.
UniProtKB/Swiss-Prot BiophysicochemicalProperties:
Kinetic parameters: KM=74 uM for ATP {ECO:0000269|PubMed:9325256}; KM=178 uM for ATP {ECO:0000269|PubMed:18302342}; KM=12.2 uM for adenosine 5-O-[S-(acetamidoproxyl)-3-thiotriphosphate] {ECO:0000269|PubMed:11278915}; KM=24 uM for (R)-mevalonate {ECO:0000269|PubMed:9325256}; KM=40 uM for (R)-mevalonate {ECO:0000269|PubMed:18302342}; Vmax=37 umol/min/mg enzyme with (R)-mevalonate as substrate {ECO:0000269|PubMed:9325256}; Vmax=28 umol/min/mg enzyme with (R)-mevalonate as substrate {ECO:0000269|PubMed:18302342};
UniProtKB/Swiss-Prot EnzymeRegulation:
Farnesyl pyrophosphate and geranyl pyrophosphate inhibit mevalonate kinase activity by binding competitively at the ATP-binding sites.
GENATLAS Biochemistry:
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 Numbers (IUBMB) for MVK Gene

Phenotypes From GWAS Catalog for MVK Gene

Gene Ontology (GO) - Molecular Function for MVK Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000166 nucleotide binding IEA --
GO:0000287 magnesium ion binding ISS --
GO:0004496 mevalonate kinase activity IBA,IMP 10369261
GO:0005515 protein binding IPI 21044950
GO:0005524 ATP binding ISS --
genes like me logo Genes that share ontologies with MVK: view
genes like me logo Genes that share phenotypes with MVK: view

Human Phenotype Ontology for MVK Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Model Products

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for MVK

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

Localization for MVK Gene

Subcellular locations from UniProtKB/Swiss-Prot for MVK Gene

Cytoplasm. Peroxisome.

Subcellular locations from

COMPARTMENTS
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 MVK gene
Compartment Confidence
cytosol 5
peroxisome 4
extracellular 3
plasma membrane 2
mitochondrion 2
nucleus 2
endoplasmic reticulum 2
cytoskeleton 1
endosome 1
lysosome 1
golgi apparatus 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Cytosol (3)
  • Vesicles (2)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for MVK Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005737 cytoplasm IEA --
GO:0005777 peroxisome ISS --
GO:0005829 cytosol TAS --
GO:0043231 intracellular membrane-bounded organelle IDA --
genes like me logo Genes that share ontologies with MVK: view

Pathways & Interactions for MVK Gene

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

UniProtKB/Swiss-Prot Q03426-KIME_HUMAN

  • Pathway: Isoprenoid biosynthesis; isopentenyl diphosphate biosynthesis via mevalonate pathway; isopentenyl diphosphate from (R)-mevalonate: step 1/3.

Gene Ontology (GO) - Biological Process for MVK Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006629 lipid metabolic process IEA --
GO:0006694 steroid biosynthetic process IEA --
GO:0006695 cholesterol biosynthetic process IBA,TAS --
GO:0008202 steroid metabolic process IEA --
GO:0008203 cholesterol metabolic process IEA --
genes like me logo Genes that share ontologies with MVK: view

No data available for SIGNOR curated interactions for MVK Gene

Drugs & Compounds for MVK Gene

(27) Drugs for MVK Gene - From: DrugBank, PharmGKB, DGIdb, IUPHAR, HMDB, and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Alendronate Approved Pharma Inhibitor, Inhibition Bone resorption inhibitor, Osteoclast function modifiers (important in bone metastasis) 175
farnesol Experimental Pharma Inhibitor, Competitive 0
DIMETHYLALLYL DIPHOSPHATE Experimental Pharma Inhibitor, Competitive 0
geranyl diphosphate Experimental Pharma Inhibitor, Feedback inhibition 0
geranylgeranyl diphosphate Experimental Pharma Inhibitor, Feedback inhibition 0

(14) Additional Compounds for MVK Gene - From: HMDB and Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
ADP
  • 5'-Adenylphosphoric acid
  • Adenosine 5'-diphosphate
  • ADENOSINE-5'-diphosphATE
  • H3ADP
  • 5'-Adenylphosphate
Agonist, Full agonist, Partial agonist, Gating inhibitor, Antagonist 58-64-0
Mevalonic acid-5P
  • (R)-5-Phosphomevalonate
  • (R)-5-Phosphomevaloonic acid
  • (R)-Mevalonic acid 5-phosphate
  • (R)-5-Phosphomevalonic acid
  • Mevalonate-5P
73566-35-5
genes like me logo Genes that share compounds with MVK: view

Transcripts for MVK Gene

mRNA/cDNA for MVK Gene

3 REFSEQ mRNAs :
12 NCBI additional mRNA sequence :
17 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for MVK

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

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: - - - - - - -
SP6: - - - - - -
SP7: - - - - - - - - - - - - -
SP8: - -
SP9:
SP10: - - - - -
SP11:
SP12:

ExUns: 12a · 12b
SP1:
SP2:
SP3:
SP4:
SP5:
SP6:
SP7:
SP8:
SP9:
SP10:
SP11:
SP12:

Relevant External Links for MVK Gene

GeneLoc Exon Structure for
MVK

Expression for MVK Gene

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

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for MVK Gene

This gene is overexpressed in Liver (x4.1).

Protein differential expression in normal tissues from HIPED for MVK Gene

This gene is overexpressed in Fetal testis (11.5), Breast (8.9), Bone (8.8), and Testis (8.5).

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



Protein tissue co-expression partners for MVK Gene

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for MVK

SOURCE GeneReport for Unigene cluster for MVK Gene:

Hs.130607

Evidence on tissue expression from TISSUES for MVK Gene

  • Skin(4.5)
  • Nervous system(3.9)
  • Liver(2.6)
  • Blood(2.4)
  • Kidney(2.3)
  • Intestine(2.2)

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

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
Systems:
  • cardiovascular
  • digestive
  • immune
  • integumentary
  • lymphatic
  • nervous
  • skeletal muscle
  • skeleton
  • urinary
Regions:
Head and neck:
  • brain
  • cerebellum
  • cheek
  • chin
  • cranial nerve
  • ear
  • eye
  • eyelid
  • face
  • head
  • jaw
  • mandible
  • maxilla
  • meninges
  • mouth
  • neck
  • outer ear
  • skull
Thorax:
  • chest wall
  • clavicle
  • esophagus
  • rib
  • rib cage
  • scapula
  • sternum
Abdomen:
  • intestine
  • kidney
  • large intestine
  • liver
  • small intestine
  • spleen
  • stomach
Pelvis:
  • pelvis
Limb:
  • ankle
  • arm
  • digit
  • elbow
  • femur
  • fibula
  • finger
  • foot
  • forearm
  • hand
  • hip
  • humerus
  • knee
  • lower limb
  • nail
  • radius
  • shin
  • shoulder
  • thigh
  • tibia
  • toe
  • ulna
  • upper limb
  • wrist
General:
  • blood
  • blood vessel
  • coagulation system
  • hair
  • lymph node
  • peripheral nervous system
  • red blood cell
  • skin
  • spinal column
  • sweat gland
  • vertebrae
  • white blood cell
genes like me logo Genes that share expression patterns with MVK: view

No data available for mRNA Expression by UniProt/SwissProt for MVK Gene

Orthologs for MVK Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for MVK Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
Mammalia MVK 30 31
  • 99.49 (n)
OneToOne
Dog
(Canis familiaris)
Mammalia MVK 30 31
  • 85.44 (n)
OneToOne
Cow
(Bos Taurus)
Mammalia MVK 30 31
  • 84.34 (n)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Mvk 30
  • 83.38 (n)
Mouse
(Mus musculus)
Mammalia Mvk 30 17 31
  • 82.1 (n)
OneToOne
Oppossum
(Monodelphis domestica)
Mammalia MVK 31
  • 72 (a)
OneToOne
Platypus
(Ornithorhynchus anatinus)
Mammalia -- 31
  • 53 (a)
OneToMany
-- 31
  • 45 (a)
OneToMany
Chicken
(Gallus gallus)
Aves -- 31
  • 65 (a)
OneToMany
MVK 30
  • 64.69 (n)
-- 31
  • 56 (a)
OneToMany
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia mvk 30
  • 60.72 (n)
African clawed frog
(Xenopus laevis)
Amphibia Xl.16053 30
Zebrafish
(Danio rerio)
Actinopterygii mvk 30 31
  • 59.18 (n)
OneToOne
Dr.14909 30
Fruit Fly
(Drosophila melanogaster)
Insecta CG33671 31
  • 32 (a)
OneToOne
Worm
(Caenorhabditis elegans)
Secernentea mvk-1 30 31
  • 46.36 (n)
OneToOne
A. gosspyii yeast
(Eremothecium gossypii)
Saccharomycetes AGOS_AER335W 30
  • 49.44 (n)
K. Lactis Yeast
(Kluyveromyces lactis)
Saccharomycetes KLLA0C07469g 30
  • 46.46 (n)
Baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes ERG12 30 31 33
  • 44.47 (n)
OneToOne
Thale Cress
(Arabidopsis thaliana)
eudicotyledons MK 30
  • 48.49 (n)
Rice
(Oryza sativa)
Liliopsida Os10g0329300 30
  • 48.19 (n)
Bread mold
(Neurospora crassa)
Ascomycetes NCU03633 30
  • 48.61 (n)
Fission Yeast
(Schizosaccharomyces pombe)
Schizosaccharomycetes erg12 30
  • 42.49 (n)
Species where no ortholog for MVK was found in the sources mined by GeneCards:
  • Actinobacteria (Mycobacterium tuberculosis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • Alpha proteobacteria (Wolbachia pipientis)
  • Amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • Barley (Hordeum vulgare)
  • Beta proteobacteria (Neisseria meningitidis)
  • Chromalveolata (Phytophthora infestans)
  • Common water flea (Daphnia pulex)
  • Corn (Zea mays)
  • E. coli (Escherichia coli)
  • Filamentous fungi (Aspergillus nidulans)
  • Firmicute Bacteria (Streptococcus pneumoniae)
  • Green Algae (Chlamydomonas reinhardtii)
  • Honey Bee (Apis mellifera)
  • Lizard (Anolis carolinensis)
  • 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 Vase (Ciona intestinalis)
  • Sea Squirt (Ciona savignyi)
  • Sea Urchin (Strongylocentrotus purpuratus)
  • Sorghum (Sorghum bicolor)
  • Soybean (Glycine max)
  • Stem Rust Fungus (Puccinia graminis)
  • Sugarcane (Saccharum officinarum)
  • Tomato (Lycopersicon esculentum)
  • Toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • Wheat (Triticum aestivum)

Evolution for MVK Gene

ENSEMBL:
Gene Tree for MVK (if available)
TreeFam:
Gene Tree for MVK (if available)
Aminode:
Evolutionary constrained regions (ECRs) for MVK: view image

Paralogs for MVK Gene

Paralogs for MVK Gene

(22) SIMAP similar genes for MVK Gene using alignment to 8 proteins:

  • KIME_HUMAN
  • B2RDU6_HUMAN
  • B7Z1C2_HUMAN
  • F5GXC0_HUMAN
  • F5H092_HUMAN
  • F5H163_HUMAN
  • F5H368_HUMAN
  • F5H8H2_HUMAN
genes like me logo Genes that share paralogs with MVK: view

Variants for MVK Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for MVK Gene

SNP ID Clinical significance and condition Chr 12 pos Variation AA Info Type
636630 Uncertain Significance: Porokeratosis 3, disseminated superficial actinic type; Hyperimmunoglobulin D with periodic fever; Mevalonic aciduria; not provided 109,591,346(+) C/T MISSENSE_VARIANT
636691 Likely Pathogenic: not provided 109,579,923(+) CCT/C FRAMESHIFT_VARIANT
639662 Uncertain Significance: Porokeratosis 3, disseminated superficial actinic type; Hyperimmunoglobulin D with periodic fever; Mevalonic aciduria 109,586,785(+) T/G MISSENSE_VARIANT
641952 Uncertain Significance: Porokeratosis 3, disseminated superficial actinic type; Hyperimmunoglobulin D with periodic fever; Mevalonic aciduria 109,579,946(+) G/GGT SPLICE_DONOR_VARIANT
642096 Uncertain Significance: Porokeratosis 3, disseminated superficial actinic type; Hyperimmunoglobulin D with periodic fever; Mevalonic aciduria 109,579,802(+) A/G MISSENSE_VARIANT

Additional dbSNP identifiers (rs#s) for MVK Gene

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

Variant ID Type Subtype PubMed ID
esv3630719 CNV gain 21293372
esv3630722 CNV gain 21293372
esv3630723 CNV gain 21293372
nsv560118 CNV loss 21841781

Variation tolerance for MVK Gene

Residual Variation Intolerance Score: 34.9% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 3.67; 57.05% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for MVK Gene

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

SNP Genotyping and Copy Number Assay Products

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

Disorders for MVK Gene

MalaCards: The human disease database

(42) MalaCards diseases for MVK Gene - From: UniProtKB/Swiss-Prot, OMIM, ClinVar, GTR, Orphanet, DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
mevalonic aciduria
  • periodic fever, dutch type
hyper-igd syndrome
  • hids
porokeratosis 3, multiple types
  • porok3
porokeratosis
  • porokeratosis of mibelli
porokeratosis 1, multiple types
  • porok1
- elite association - COSMIC cancer census association via MalaCards
Search MVK in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

KIME_HUMAN
  • 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. {ECO:0000269 PubMed:10401001, ECO:0000269 PubMed:10417275, ECO:0000269 PubMed:11313768, ECO:0000269 PubMed:11313769, ECO:0000269 PubMed:1377680}. 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. {ECO:0000269 PubMed:10369261, ECO:0000269 PubMed:10369262, ECO:0000269 PubMed:11313768, ECO:0000269 PubMed:11313769, ECO:0000269 PubMed:15536479}. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • Porokeratosis 3, multiple types (POROK3) [MIM:175900]: 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:22983302, ECO:0000269 PubMed:24781643}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Additional Disease Information for MVK

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
Open Targets Platform
genes like me logo Genes that share disorders with MVK: view

No data available for Genatlas for MVK Gene

Publications for MVK Gene

  1. Molecular cloning of human mevalonate kinase and identification of a missense mutation in the genetic disease mevalonic aciduria. (PMID: 1377680) Schafer BL … Tanaka RD (The Journal of biological chemistry 1992) 2 3 4 23
  2. Biochemical and structural basis for feedback inhibition of mevalonate kinase and isoprenoid metabolism. (PMID: 18302342) Fu Z … Kim JJ (Biochemistry 2008) 3 4 23
  3. Autoinflammatory gene mutations in Behçet's disease. (PMID: 17213252) Koné-Paut I … Touitou I (Annals of the rheumatic diseases 2007) 3 23 41
  4. Approach to genetic analysis in the diagnosis of hereditary autoinflammatory syndromes. (PMID: 16234278) Simon A … International HIDS Study Group (Rheumatology (Oxford, England) 2006) 3 23 41
  5. MVK mutations and associated clinical features in Italian patients affected with autoinflammatory disorders and recurrent fever. (PMID: 15536479) D'Osualdo A … Ceccherini I (European journal of human genetics : EJHG 2005) 3 4 23

Products for MVK Gene

  • Signalway Proteins for MVK

Sources for MVK Gene