MVK (mevalonate kinase)

2014-11-01  

Identity

HGNC
LOCATION
12q24.11
LOCUSID
ALIAS
LRBP,MK,MVLK,POROK3
FUSION GENES

Other Information

Locus ID:

NCBI: 4598
MIM: 251170
HGNC: 7530
Ensembl: ENSG00000110921

Variants:

dbSNP: 4598
ClinVar: 4598
TCGA: ENSG00000110921
COSMIC: MVK

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000110921ENST00000228510Q03426
ENSG00000110921ENST00000228510B2RDU6
ENSG00000110921ENST00000392727F5H8H2
ENSG00000110921ENST00000447878F5H163
ENSG00000110921ENST00000537237F5H368
ENSG00000110921ENST00000539335F5GXC0
ENSG00000110921ENST00000539575Q03426
ENSG00000110921ENST00000539575B2RDU6
ENSG00000110921ENST00000539696A0A0B4J236
ENSG00000110921ENST00000545774F5H163
ENSG00000110921ENST00000546277F5H092
ENSG00000110921ENST00000625889F5H8H2
ENSG00000110921ENST00000629016F5H163
ENSG00000110921ENST00000636529A0A1B0GWF3
ENSG00000110921ENST00000636996A0A1B0GWC2
ENSG00000110921ENST00000639206A0A1W2PS16

Expression (GTEx)

0
5
10
15
20
25
30
35
40
45

Pathways

PathwaySourceExternal ID
Terpenoid backbone biosynthesisKEGGko00900
Terpenoid backbone biosynthesisKEGGhsa00900
PeroxisomeKEGGko04146
PeroxisomeKEGGhsa04146
Metabolic pathwaysKEGGhsa01100
C5 isoprenoid biosynthesis, mevalonate pathwayKEGGhsa_M00095
C5 isoprenoid biosynthesis, mevalonate pathwayKEGGM00095
MetabolismREACTOMER-HSA-1430728
Metabolism of lipids and lipoproteinsREACTOMER-HSA-556833
Cholesterol biosynthesisREACTOMER-HSA-191273
Regulation of cholesterol biosynthesis by SREBP (SREBF)REACTOMER-HSA-1655829
Activation of gene expression by SREBF (SREBP)REACTOMER-HSA-2426168

Protein levels (Protein atlas)

Not detected
Low
Medium
High

PharmGKB

Entity IDNameTypeEvidenceAssociationPKPDPMIDs
PA443532Bone DiseasesDiseaseClinicalAnnotationassociatedPD25223561
PA448082alendronateChemicalClinicalAnnotationassociatedPD25223561

References

Pubmed IDYearTitleCitations
181930432008Newly identified loci that influence lipid concentrations and risk of coronary artery disease.690
207143482010Common inherited variation in mitochondrial genes is not enriched for associations with type 2 diabetes or related glycemic traits.246
191482832009Genetic differences between the determinants of lipid profile phenotypes in African and European Americans: the Jackson Heart Study.56
194875392009Large scale replication analysis of loci associated with lipid concentrations in a Japanese population.35
185127932008A diagnostic score for molecular analysis of hereditary autoinflammatory syndromes with periodic fever in children.26
186604892008Multiple genetic variants along candidate pathways influence plasma high-density lipoprotein cholesterol concentrations.26
240643602013Regulation of LH receptor mRNA binding protein by miR-122 in rat ovaries.22
147493362004Isolation and characterization of a novel trans-factor for luteinizing hormone receptor mRNA from ovary.21
150377102004Mevalonate kinase deficiency: Evidence for a phenotypic continuum.20
209722502011Genetic loci associated with lipid concentrations and cardiovascular risk factors in the Korean population.20

Citation

Dessen P

MVK (mevalonate kinase)

Atlas Genet Cytogenet Oncol Haematol. 2014-11-01

Online version: http://atlasgeneticsoncology.org/gene/70590/mvk