Atlas of Genetics and Cytogenetics in Oncology and Haematology


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MVK (mevalonate kinase)

Identity

Alias_namesmevalonate kinase (mevalonic aciduria)
Alias_symbol (synonym)LRBP
MK
Other aliasMVLK
POROK3
HGNC (Hugo) MVK
LocusID (NCBI) 4598
Atlas_Id 70590
Location 12q24.11  [Link to chromosome band 12q24]
Location_base_pair Starts at 109573695 and ends at 109597270 bp from pter ( according to hg38-Dec_2013)
Fusion genes
(updated 2016)
TP63 (3q28) / MVK (12q24.11)

Note

Non-annotated gene. Preliminary data : if you are an author
who wish to write a full paper/card on this gene, go to  How to contribute

DNA/RNA

 


External links

Nomenclature
HGNC (Hugo)MVK   7530
LRG (Locus Reference Genomic)LRG_156
Cards
Entrez_Gene (NCBI)MVK  4598  mevalonate kinase
AliasesLRBP; MK; MVLK; POROK3
GeneCards (Weizmann)MVK
Ensembl hg19 (Hinxton)ENSG00000110921 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000110921 [Gene_View]  chr12:109573695-109597270 [Contig_View]  MVK [Vega]
ICGC DataPortalENSG00000110921
TCGA cBioPortalMVK
AceView (NCBI)MVK
Genatlas (Paris)MVK
WikiGenes4598
SOURCE (Princeton)MVK
Genetics Home Reference (NIH)MVK
Genomic and cartography
GoldenPath hg38 (UCSC)MVK  -     chr12:109573695-109597270 +  12q24.11   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)MVK  -     12q24.11   [Description]    (hg19-Feb_2009)
EnsemblMVK - 12q24.11 [CytoView hg19]  MVK - 12q24.11 [CytoView hg38]
Mapping of homologs : NCBIMVK [Mapview hg19]  MVK [Mapview hg38]
OMIM175900   251170   260920   610377   
Gene and transcription
Genbank (Entrez)AB209722 AF217536 AK023087 AK293130 AK295338
RefSeq transcript (Entrez)NM_000431 NM_001114185 NM_001301182
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)MVK
Cluster EST : UnigeneHs.130607 [ NCBI ]
CGAP (NCI)Hs.130607
Alternative Splicing GalleryENSG00000110921
Gene ExpressionMVK [ NCBI-GEO ]   MVK [ EBI - ARRAY_EXPRESS ]   MVK [ SEEK ]   MVK [ MEM ]
Gene Expression Viewer (FireBrowse)MVK [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)4598
GTEX Portal (Tissue expression)MVK
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ03426   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ03426  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ03426
Splice isoforms : SwissVarQ03426
PhosPhoSitePlusQ03426
Domaine pattern : Prosite (Expaxy)GHMP_KINASES_ATP (PS00627)   
Domains : Interpro (EBI)GHMP_kinase_C_dom    GHMP_kinase_N_dom    GHMP_knse_ATP-bd_CS    Mev_gal_kin    Mevalonate/galactokinase    Ribosomal_S5_D2-typ_fold    Ribosomal_S5_D2-typ_fold_subgr   
Domain families : Pfam (Sanger)GHMP_kinases_C (PF08544)    GHMP_kinases_N (PF00288)   
Domain families : Pfam (NCBI)pfam08544    pfam00288   
Conserved Domain (NCBI)MVK
DMDM Disease mutations4598
Blocks (Seattle)MVK
PDB (SRS)2R3V   
PDB (PDBSum)2R3V   
PDB (IMB)2R3V   
PDB (RSDB)2R3V   
Structural Biology KnowledgeBase2R3V   
SCOP (Structural Classification of Proteins)2R3V   
CATH (Classification of proteins structures)2R3V   
SuperfamilyQ03426
Human Protein AtlasENSG00000110921
Peptide AtlasQ03426
HPRD02015
IPIIPI00010717   IPI00922513   IPI01014580   IPI01014999   IPI01011964   IPI01011493   IPI01010641   
Protein Interaction databases
DIP (DOE-UCLA)Q03426
IntAct (EBI)Q03426
FunCoupENSG00000110921
BioGRIDMVK
STRING (EMBL)MVK
ZODIACMVK
Ontologies - Pathways
QuickGOQ03426
Ontology : AmiGOmevalonate kinase activity  mevalonate kinase activity  mevalonate kinase activity  protein binding  ATP binding  peroxisome  cytosol  cytosol  cholesterol biosynthetic process  cholesterol biosynthetic process  isoprenoid biosynthetic process  phosphorylation  isopentenyl diphosphate biosynthetic process, mevalonate pathway  isopentenyl diphosphate biosynthetic process, mevalonate pathway  identical protein binding  negative regulation of inflammatory response  extracellular exosome  
Ontology : EGO-EBImevalonate kinase activity  mevalonate kinase activity  mevalonate kinase activity  protein binding  ATP binding  peroxisome  cytosol  cytosol  cholesterol biosynthetic process  cholesterol biosynthetic process  isoprenoid biosynthetic process  phosphorylation  isopentenyl diphosphate biosynthetic process, mevalonate pathway  isopentenyl diphosphate biosynthetic process, mevalonate pathway  identical protein binding  negative regulation of inflammatory response  extracellular exosome  
Pathways : KEGGTerpenoid backbone biosynthesis    Peroxisome   
NDEx NetworkMVK
Atlas of Cancer Signalling NetworkMVK
Wikipedia pathwaysMVK
Orthology - Evolution
OrthoDB4598
GeneTree (enSembl)ENSG00000110921
Phylogenetic Trees/Animal Genes : TreeFamMVK
HOVERGENQ03426
HOGENOMQ03426
Homologs : HomoloGeneMVK
Homology/Alignments : Family Browser (UCSC)MVK
Gene fusions - Rearrangements
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerMVK [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)MVK
dbVarMVK
ClinVarMVK
1000_GenomesMVK 
Exome Variant ServerMVK
ExAC (Exome Aggregation Consortium)MVK (select the gene name)
Genetic variants : HAPMAP4598
Genomic Variants (DGV)MVK [DGVbeta]
DECIPHERMVK [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisMVK 
Mutations
ICGC Data PortalMVK 
TCGA Data PortalMVK 
Broad Tumor PortalMVK
OASIS PortalMVK [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICMVK  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDMVK
LOVD (Leiden Open Variation Database)Whole genome datasets
LOVD (Leiden Open Variation Database)LOVD - Leiden Open Variation Database
LOVD (Leiden Open Variation Database)LOVD 3.0 shared installation
LOVD (Leiden Open Variation Database)**PUBLIC** CCHMC Molecular Genetics Laboratory Mutation Database
BioMutasearch MVK
DgiDB (Drug Gene Interaction Database)MVK
DoCM (Curated mutations)MVK (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)MVK (select a term)
intoGenMVK
Cancer3DMVK(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM175900    251170    260920    610377   
Orphanet403    3276    8653    11178   
MedgenMVK
Genetic Testing Registry MVK
NextProtQ03426 [Medical]
TSGene4598
GENETestsMVK
Target ValidationMVK
Huge Navigator MVK [HugePedia]
snp3D : Map Gene to Disease4598
BioCentury BCIQMVK
ClinGenMVK
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD4598
Chemical/Pharm GKB GenePA31331
Clinical trialMVK
Miscellaneous
canSAR (ICR)MVK (select the gene name)
Probes
Litterature
PubMed88 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineMVK
EVEXMVK
GoPubMedMVK
iHOPMVK
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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© Atlas of Genetics and Cytogenetics in Oncology and Haematology
indexed on : Wed May 31 15:31:58 CEST 2017

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