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MCEE (methylmalonyl-CoA epimerase)

Identity

Alias_symbol (synonym)GLOD2
Other alias
HGNC (Hugo) MCEE
LocusID (NCBI) 84693
Atlas_Id 68842
Location 2p13.3  [Link to chromosome band 2p13]
Location_base_pair Starts at 71109676 and ends at 71130264 bp from pter ( according to hg38-Dec_2013)
Fusion genes
(updated 2016)
MCEE (2p13.3) / ANXA4 (2p13.3)MCEE (2p13.3) / METTL8 (2q31.1)

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)MCEE   16732
Cards
Entrez_Gene (NCBI)MCEE  84693  methylmalonyl-CoA epimerase
AliasesGLOD2
GeneCards (Weizmann)MCEE
Ensembl hg19 (Hinxton)ENSG00000124370 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000124370 [Gene_View]  chr2:71109676-71130264 [Contig_View]  MCEE [Vega]
ICGC DataPortalENSG00000124370
TCGA cBioPortalMCEE
AceView (NCBI)MCEE
Genatlas (Paris)MCEE
WikiGenes84693
SOURCE (Princeton)MCEE
Genetics Home Reference (NIH)MCEE
Genomic and cartography
GoldenPath hg38 (UCSC)MCEE  -     chr2:71109676-71130264 -  2p13.3   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)MCEE  -     2p13.3   [Description]    (hg19-Feb_2009)
EnsemblMCEE - 2p13.3 [CytoView hg19]  MCEE - 2p13.3 [CytoView hg38]
Mapping of homologs : NCBIMCEE [Mapview hg19]  MCEE [Mapview hg38]
OMIM251120   608419   
Gene and transcription
Genbank (Entrez)AB209469 AF364547 AI033764 BC020825 BM271757
RefSeq transcript (Entrez)NM_032601
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)MCEE
Cluster EST : UnigeneHs.94949 [ NCBI ]
CGAP (NCI)Hs.94949
Alternative Splicing GalleryENSG00000124370
Gene ExpressionMCEE [ NCBI-GEO ]   MCEE [ EBI - ARRAY_EXPRESS ]   MCEE [ SEEK ]   MCEE [ MEM ]
Gene Expression Viewer (FireBrowse)MCEE [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)84693
GTEX Portal (Tissue expression)MCEE
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ96PE7   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ96PE7  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ96PE7
Splice isoforms : SwissVarQ96PE7
Catalytic activity : Enzyme5.1.99.1 [ Enzyme-Expasy ]   5.1.99.15.1.99.1 [ IntEnz-EBI ]   5.1.99.1 [ BRENDA ]   5.1.99.1 [ KEGG ]   
PhosPhoSitePlusQ96PE7
Domaine pattern : Prosite (Expaxy)VOC (PS51819)   
Domains : Interpro (EBI)Glyas_Bleomycin-R_OHBP_Dase    MeMalonyl-CoA_epimerase   
Domain families : Pfam (Sanger)
Domain families : Pfam (NCBI)
Conserved Domain (NCBI)MCEE
DMDM Disease mutations84693
Blocks (Seattle)MCEE
PDB (SRS)3RMU   
PDB (PDBSum)3RMU   
PDB (IMB)3RMU   
PDB (RSDB)3RMU   
Structural Biology KnowledgeBase3RMU   
SCOP (Structural Classification of Proteins)3RMU   
CATH (Classification of proteins structures)3RMU   
SuperfamilyQ96PE7
Human Protein AtlasENSG00000124370
Peptide AtlasQ96PE7
HPRD12229
IPIIPI00107722   IPI00925113   IPI01009493   
Protein Interaction databases
DIP (DOE-UCLA)Q96PE7
IntAct (EBI)Q96PE7
FunCoupENSG00000124370
BioGRIDMCEE
STRING (EMBL)MCEE
ZODIACMCEE
Ontologies - Pathways
QuickGOQ96PE7
Ontology : AmiGOmethylmalonyl-CoA epimerase activity  methylmalonyl-CoA epimerase activity  protein binding  mitochondrial matrix  short-chain fatty acid catabolic process  L-methylmalonyl-CoA metabolic process  metal ion binding  
Ontology : EGO-EBImethylmalonyl-CoA epimerase activity  methylmalonyl-CoA epimerase activity  protein binding  mitochondrial matrix  short-chain fatty acid catabolic process  L-methylmalonyl-CoA metabolic process  metal ion binding  
Pathways : KEGGValine, leucine and isoleucine degradation    Glyoxylate and dicarboxylate metabolism    Propanoate metabolism   
NDEx NetworkMCEE
Atlas of Cancer Signalling NetworkMCEE
Wikipedia pathwaysMCEE
Orthology - Evolution
OrthoDB84693
GeneTree (enSembl)ENSG00000124370
Phylogenetic Trees/Animal Genes : TreeFamMCEE
HOVERGENQ96PE7
HOGENOMQ96PE7
Homologs : HomoloGeneMCEE
Homology/Alignments : Family Browser (UCSC)MCEE
Gene fusions - Rearrangements
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerMCEE [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)MCEE
dbVarMCEE
ClinVarMCEE
1000_GenomesMCEE 
Exome Variant ServerMCEE
ExAC (Exome Aggregation Consortium)MCEE (select the gene name)
Genetic variants : HAPMAP84693
Genomic Variants (DGV)MCEE [DGVbeta]
DECIPHERMCEE [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisMCEE 
Mutations
ICGC Data PortalMCEE 
TCGA Data PortalMCEE 
Broad Tumor PortalMCEE
OASIS PortalMCEE [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICMCEE  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDMCEE
LOVD (Leiden Open Variation Database)Whole genome datasets
LOVD (Leiden Open Variation Database)LOVD 3.0 shared installation
LOVD (Leiden Open Variation Database)Zhejiang University Center for Genetic and Genomic Medicine (ZJU-CGGM)
LOVD (Leiden Open Variation Database)MSeqDR-LSDB Mitochondrial Disease Locus Specific Database
BioMutasearch MCEE
DgiDB (Drug Gene Interaction Database)MCEE
DoCM (Curated mutations)MCEE (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)MCEE (select a term)
intoGenMCEE
Cancer3DMCEE(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM251120    608419   
Orphanet21311   
MedgenMCEE
Genetic Testing Registry MCEE
NextProtQ96PE7 [Medical]
TSGene84693
GENETestsMCEE
Target ValidationMCEE
Huge Navigator MCEE [HugePedia]
snp3D : Map Gene to Disease84693
BioCentury BCIQMCEE
ClinGenMCEE
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD84693
Chemical/Pharm GKB GenePA30683
Clinical trialMCEE
Miscellaneous
canSAR (ICR)MCEE (select the gene name)
Probes
Litterature
PubMed13 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineMCEE
EVEXMCEE
GoPubMedMCEE
iHOPMCEE
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Wed May 31 15:25:39 CEST 2017

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