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HMGCS2 (3-hydroxy-3-methylglutaryl-CoA synthase 2)

Identity

Alias_names3-hydroxy-3-methylglutaryl-Coenzyme A synthase 2 (mitochondrial)
3-hydroxy-3-methylglutaryl-CoA synthase 2 (mitochondrial)
Other alias-
HGNC (Hugo) HMGCS2
LocusID (NCBI) 3158
Atlas_Id 55366
Location 1p12  [Link to chromosome band 1p12]
Location_base_pair Starts at 119747996 and ends at 119768932 bp from pter ( according to hg38-Dec_2013)

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)HMGCS2   5008
LRG (Locus Reference Genomic)LRG_447
Cards
Entrez_Gene (NCBI)HMGCS2  3158  3-hydroxy-3-methylglutaryl-CoA synthase 2
Aliases
GeneCards (Weizmann)HMGCS2
Ensembl hg19 (Hinxton)ENSG00000134240 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000134240 [Gene_View]  chr1:119747996-119768932 [Contig_View]  HMGCS2 [Vega]
ICGC DataPortalENSG00000134240
TCGA cBioPortalHMGCS2
AceView (NCBI)HMGCS2
Genatlas (Paris)HMGCS2
WikiGenes3158
SOURCE (Princeton)HMGCS2
Genetics Home Reference (NIH)HMGCS2
Genomic and cartography
GoldenPath hg38 (UCSC)HMGCS2  -     chr1:119747996-119768932 -  1p12   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)HMGCS2  -     1p12   [Description]    (hg19-Feb_2009)
EnsemblHMGCS2 - 1p12 [CytoView hg19]  HMGCS2 - 1p12 [CytoView hg38]
Mapping of homologs : NCBIHMGCS2 [Mapview hg19]  HMGCS2 [Mapview hg38]
OMIM600234   605911   
Gene and transcription
Genbank (Entrez)AI215948 AK301594 AK302276 AK303777 AK313590
RefSeq transcript (Entrez)NM_001166107 NM_005518
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)HMGCS2
Cluster EST : UnigeneHs.59889 [ NCBI ]
CGAP (NCI)Hs.59889
Alternative Splicing GalleryENSG00000134240
Gene ExpressionHMGCS2 [ NCBI-GEO ]   HMGCS2 [ EBI - ARRAY_EXPRESS ]   HMGCS2 [ SEEK ]   HMGCS2 [ MEM ]
Gene Expression Viewer (FireBrowse)HMGCS2 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)3158
GTEX Portal (Tissue expression)HMGCS2
Protein : pattern, domain, 3D structure
UniProt/SwissProtP54868   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtP54868  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProP54868
Splice isoforms : SwissVarP54868
Catalytic activity : Enzyme2.3.3.10 [ Enzyme-Expasy ]   2.3.3.102.3.3.10 [ IntEnz-EBI ]   2.3.3.10 [ BRENDA ]   2.3.3.10 [ KEGG ]   
PhosPhoSitePlusP54868
Domaine pattern : Prosite (Expaxy)HMG_COA_SYNTHASE (PS01226)   
Domains : Interpro (EBI)HMG_CoA_synt_AS    HMG_CoA_synt_C_dom    HMG_CoA_synth_N    HMG_CoA_synthase_euk    Thiolase-like   
Domain families : Pfam (Sanger)HMG_CoA_synt_C (PF08540)    HMG_CoA_synt_N (PF01154)   
Domain families : Pfam (NCBI)pfam08540    pfam01154   
Conserved Domain (NCBI)HMGCS2
DMDM Disease mutations3158
Blocks (Seattle)HMGCS2
PDB (SRS)2WYA   
PDB (PDBSum)2WYA   
PDB (IMB)2WYA   
PDB (RSDB)2WYA   
Structural Biology KnowledgeBase2WYA   
SCOP (Structural Classification of Proteins)2WYA   
CATH (Classification of proteins structures)2WYA   
SuperfamilyP54868
Human Protein AtlasENSG00000134240
Peptide AtlasP54868
HPRD02580
IPIIPI00008934   IPI00945760   
Protein Interaction databases
DIP (DOE-UCLA)P54868
IntAct (EBI)P54868
FunCoupENSG00000134240
BioGRIDHMGCS2
STRING (EMBL)HMGCS2
ZODIACHMGCS2
Ontologies - Pathways
QuickGOP54868
Ontology : AmiGOhydroxymethylglutaryl-CoA synthase activity  hydroxymethylglutaryl-CoA synthase activity  mitochondrion  mitochondrial inner membrane  mitochondrial matrix  cholesterol biosynthetic process  isoprenoid biosynthetic process  ketone body biosynthetic process  
Ontology : EGO-EBIhydroxymethylglutaryl-CoA synthase activity  hydroxymethylglutaryl-CoA synthase activity  mitochondrion  mitochondrial inner membrane  mitochondrial matrix  cholesterol biosynthetic process  isoprenoid biosynthetic process  ketone body biosynthetic process  
Pathways : KEGGSynthesis and degradation of ketone bodies    Valine, leucine and isoleucine degradation    Butanoate metabolism    Terpenoid backbone biosynthesis    PPAR signaling pathway   
NDEx NetworkHMGCS2
Atlas of Cancer Signalling NetworkHMGCS2
Wikipedia pathwaysHMGCS2
Orthology - Evolution
OrthoDB3158
GeneTree (enSembl)ENSG00000134240
Phylogenetic Trees/Animal Genes : TreeFamHMGCS2
HOVERGENP54868
HOGENOMP54868
Homologs : HomoloGeneHMGCS2
Homology/Alignments : Family Browser (UCSC)HMGCS2
Gene fusions - Rearrangements
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerHMGCS2 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)HMGCS2
dbVarHMGCS2
ClinVarHMGCS2
1000_GenomesHMGCS2 
Exome Variant ServerHMGCS2
ExAC (Exome Aggregation Consortium)HMGCS2 (select the gene name)
Genetic variants : HAPMAP3158
Genomic Variants (DGV)HMGCS2 [DGVbeta]
DECIPHERHMGCS2 [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisHMGCS2 
Mutations
ICGC Data PortalHMGCS2 
TCGA Data PortalHMGCS2 
Broad Tumor PortalHMGCS2
OASIS PortalHMGCS2 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICHMGCS2  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDHMGCS2
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)MSeqDR-LSDB Mitochondrial Disease Locus Specific Database
BioMutasearch HMGCS2
DgiDB (Drug Gene Interaction Database)HMGCS2
DoCM (Curated mutations)HMGCS2 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)HMGCS2 (select a term)
intoGenHMGCS2
Cancer3DHMGCS2(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM600234    605911   
Orphanet10391   
MedgenHMGCS2
Genetic Testing Registry HMGCS2
NextProtP54868 [Medical]
TSGene3158
GENETestsHMGCS2
Target ValidationHMGCS2
Huge Navigator HMGCS2 [HugePedia]
snp3D : Map Gene to Disease3158
BioCentury BCIQHMGCS2
ClinGenHMGCS2
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD3158
Chemical/Pharm GKB GenePA29338
Clinical trialHMGCS2
Miscellaneous
canSAR (ICR)HMGCS2 (select the gene name)
Probes
Litterature
PubMed26 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineHMGCS2
EVEXHMGCS2
GoPubMedHMGCS2
iHOPHMGCS2
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

Search in all EBI   NCBI

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indexed on : Tue Aug 1 17:03:10 CEST 2017

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