MVK (mevalonate kinase)

2014-11-01  

Identity

HGNC
MVK
LOCATION
12q24.11
LOCUSID
4598
ALIAS
LRBP,MK,MVLK,POROK3
FUSION GENES
Show Gene Fusions

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
Adipose - Subcutaneous
Adipose - Visceral
Adrenal Gland
Artery - Aorta
Artery - Tibial
Bladder
Brain - Amygdala
Brain - Anterior cingulate cortex
Brain - Caudate
Brain - Cerebellar Hemisphere
Brain - Cerebellum
Brain - Cortex
Brain - Frontal Cortex
Brain - Hippocampus
Brain - Hypothalamus
Brain - Nucleus accumbens
Brain - Putamen
Brain - Spinal cord
Brain - Substantia nigra
Breast - Mammary Tissue
Cells - Cultured fibroblasts
Cells - EBV - transformed lymphocytes
Cervix - Ectocervix
Cervix - Endocervix
Colon - Sigmoid
Colon - Transverse
Esophagus - Gastroesophageal Junction
Esophagus - Mucosa
Esophagus - Muscularis
Fallopian Tube
Heart - Atrial Appendage
Heart - Left Ventricle
Kidney - Cortex
Kidney - Medulla
Liver
Lung
Minor Salivary Gland
Muscle - Skeletal
Nerve - Tibial
Ovary
Pancreas
Pituitary
Prostate
Skin - Not Sun Exposed
Skin - Sun Exposed
Small Intestine - Terminal Ileum
Spleen
Stomach
Testis
Thyroid
Uterus
Vagina
Whole Blood

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
cerebral cortex
cerebellum
hippocampus
caudate
thyroid gland
parathyroid gland
adrenal gland
nasopharynx
bronchus
lung
oral mucosa
salivary gland
esophagus
stomach 1
stomach 2
duodenum
small intestine
colon
rectum
liver
gallbladder
pancreas
kidney
urinary bladder
testis
epididymis
seminal vesicle
prostate
vagina
ovary
fallopian tube
endometrium 1
endometrium 2
cervix, uterine
placenta
breast
heart muscle
smooth muscle
skeletal muscle
soft tissue 1
soft tissue 2
adipose tissue
skin 2
appendix
spleen
lymph node
tonsil
bone marrow

PharmGKB

Entity IDNameTypeEvidenceAssociationPKPDPMIDs
PA443532Bone DiseasesDiseaseClinicalAnnotationassociatedPD25223561
PA448082alendronateChemicalClinicalAnnotationassociatedPD25223561

References

Pubmed IDYearTitleCitations
385505962024Mevalonate kinase-deficient THP-1 cells show a disease-characteristic pro-inflammatory phenotype.0
385505962024Mevalonate kinase-deficient THP-1 cells show a disease-characteristic pro-inflammatory phenotype.0
363716812023A novel missense mutation in the MVK gene is associated with disseminated superficial porokeratosis.1
363716812023A novel missense mutation in the MVK gene is associated with disseminated superficial porokeratosis.1
341456132021Phenotypic diversity, disease progression, and pathogenicity of MVK missense variants in mevalonic aciduria.10
347511462021Novel missense mutations of MVK and FDPS gene in Chinese patients with disseminated superficial actinic porokeratosis.2
341456132021Phenotypic diversity, disease progression, and pathogenicity of MVK missense variants in mevalonic aciduria.10
347511462021Novel missense mutations of MVK and FDPS gene in Chinese patients with disseminated superficial actinic porokeratosis.2
328224272020Spectrum of clinical features and genetic variants in mevalonate kinase (MVK) gene of South Indian families suffering from Hyperimmunoglobulin D Syndrome.7
328224272020Spectrum of clinical features and genetic variants in mevalonate kinase (MVK) gene of South Indian families suffering from Hyperimmunoglobulin D Syndrome.7
305975342019Novel mutations in mevalonate kinase cause disseminated superficial actinic porokeratosis.6
311350832019Molecular genetic evaluation of NLRP3, MVK and TNFRSF1A associated periodic fever syndromes.4
312072272019Clonal Expansion of Second-Hit Cells with Somatic Recombinations or C>T Transitions Form Porokeratosis in MVD or MVK Mutant Heterozygotes.19
314749852019Defective Protein Prenylation in a Spectrum of Patients With Mevalonate Kinase Deficiency.11
305975342019Novel mutations in mevalonate kinase cause disseminated superficial actinic porokeratosis.6

Citation

Dessen P

MVK (mevalonate kinase)

Atlas Genet Cytogenet Oncol Haematol. 2014-11-01

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