The product of this gene catalyzes the interconversion of D- and L-methylmalonyl-CoA during the degradation of branched chain amino acids. odd chain-length fatty acids, and other metabolites. Mutations in this gene result in methylmalonyl-CoA epimerase deficiency, which is presented as mild to moderate methylmalonic aciduria. [provided by RefSeq, Jul 2008] See more...

Aliases for MCEE Gene

Aliases for MCEE Gene

  • Methylmalonyl-CoA Epimerase 2 3 5
  • Methylmalonyl-CoA Epimerase, Mitochondrial 3 4
  • Glyoxalase Domain Containing 2 2 3
  • DL-Methylmalonyl-CoA Racemase 3 4
  • Methylmalonyl CoA Isomerase 2 3
  • GLOD2 2 3
  • MCE 2 3
  • EC 5.1.99.1 4
  • MCEE 5

External Ids for MCEE Gene

Previous GeneCards Identifiers for MCEE Gene

  • GC02M071346
  • GC02M071547
  • GC02M071311
  • GC02M071248
  • GC02M071190
  • GC02M071336
  • GC02M071073

Summaries for MCEE Gene

Entrez Gene Summary for MCEE Gene

  • The product of this gene catalyzes the interconversion of D- and L-methylmalonyl-CoA during the degradation of branched chain amino acids. odd chain-length fatty acids, and other metabolites. Mutations in this gene result in methylmalonyl-CoA epimerase deficiency, which is presented as mild to moderate methylmalonic aciduria. [provided by RefSeq, Jul 2008]

GeneCards Summary for MCEE Gene

MCEE (Methylmalonyl-CoA Epimerase) is a Protein Coding gene. Diseases associated with MCEE include Methylmalonyl-Coa Epimerase Deficiency and Methylmalonic Acidemia. Among its related pathways are superpathway of methionine degradation and Mitochondrial Fatty Acid Beta-Oxidation. Gene Ontology (GO) annotations related to this gene include methylmalonyl-CoA epimerase activity. An important paralog of this gene is GLOD5.

UniProtKB/Swiss-Prot Summary for MCEE Gene

  • Methylmalonyl-CoA epimerase involved in propionyl-CoA metabolism.

No data available for CIViC Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for MCEE Gene

Genomics for MCEE Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for MCEE Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH02J071128 Promoter/Enhancer 2.2 EPDnew Ensembl ENCODE CraniofacialAtlas dbSUPER 608.9 -0.3 -254 4.7 SP1 HNRNPL CREB1 GATAD2A ATF7 PRDM10 ZNF629 REST TFE3 SIX5 MPHOSPH10 MCEE lnc-PAIP2B-1 piR-50517-008 ZNF638 TEX261 NAGK TIA1 ANKRD53
GH02J071062 Promoter/Enhancer 2.3 EPDnew Ensembl ENCODE CraniofacialAtlas dbSUPER 10.8 +61.7 61683 11.8 RNF2 SP1 HNRNPL CREB1 CTCF PRDM10 ZNF629 TFE3 IKZF1 NFKBIZ NAGK ENSG00000272735 TIA1 TEX261 ZNF638 CLEC4F MPHOSPH10 CD207 MCEE PCBP1-AS1
GH02J070139 Promoter/Enhancer 2.1 Ensembl ENCODE CraniofacialAtlas dbSUPER 10.6 +988.3 988321 5.7 BRCA1 SP1 CREB1 GATAD2A CTCF HNRNPL ATF7 PRDM10 ZNF629 REST LINC01816 lnc-C2orf42-10 lnc-C2orf42-9 lnc-PCBP1-11 lnc-PCBP1-12 TIA1 PCBP1-AS1 TEX261 CLEC4F ANKRD53
GH02J071101 Enhancer 1 Ensembl ENCODE 8.2 +28.0 27988 3.8 GATAD2A CTCF TEAD4 FOXA1 REST RAD21 IRF2 BRD9 TRIM22 GABPA NAGK MCEE piR-58297-254 ENSG00000288065
GH02J071083 Enhancer 0.7 dbSUPER 4.8 +47.2 47201 3.8 RNF2 SP1 BACH1 SMAD5 TCF12 IKZF2 TRIM22 MCM7 EED ARID3A lnc-NAGK-2 NAGK MCEE piR-50174-001
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around MCEE on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for MCEE

Top Transcription factor binding sites by QIAGEN in the MCEE gene promoter:
  • C/EBPalpha
  • E47
  • HOXA9
  • HOXA9B
  • IRF-2
  • Meis-1
  • Meis-1a
  • Nkx5-1
  • POU2F1
  • POU2F1a

Genomic Locations for MCEE Gene

Genomic Locations for MCEE Gene
chr2:71,109,684-71,130,288
(GRCh38/hg38)
Size:
20,605 bases
Orientation:
Minus strand
chr2:71,336,806-71,357,394
(GRCh37/hg19)
Size:
20,589 bases
Orientation:
Minus strand

Genomic View for MCEE Gene

Genes around MCEE on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
MCEE Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for MCEE Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for MCEE Gene

Proteins for MCEE Gene

  • Protein details for MCEE Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q96PE7-MCEE_HUMAN
    Recommended name:
    Methylmalonyl-CoA epimerase, mitochondrial
    Protein Accession:
    Q96PE7
    Secondary Accessions:
    • Q53TP1
    • Q8WW63

    Protein attributes for MCEE Gene

    Size:
    176 amino acids
    Molecular mass:
    18749 Da
    Quaternary structure:
    No Data Available

    Three dimensional structures from OCA and Proteopedia for MCEE Gene

neXtProt entry for MCEE Gene

Post-translational modifications for MCEE Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for MCEE Gene

No data available for DME Specific Peptides for MCEE Gene

Domains & Families for MCEE Gene

Gene Families for MCEE Gene

Human Protein Atlas (HPA):
  • Disease related genes
  • Enzymes
  • Potential drug targets
  • Predicted intracellular proteins

Protein Domains for MCEE Gene

InterPro:
Blocks:
  • Glyoxalase/Bleomycin resistance protein/dioxygenase domain
  • Glyoxalase I
  • Glyoxalase/extradiol ring-cleavage dioxygenase
ProtoNet:

Suggested Antigen Peptide Sequences for MCEE Gene

GenScript: Design optimal peptide antigens:
  • DL-methylmalonyl-CoA racemase (MCEE_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q96PE7

UniProtKB/Swiss-Prot:

MCEE_HUMAN :
  • Belongs to the methylmalonyl-CoA epimerase family.
Family:
  • Belongs to the methylmalonyl-CoA epimerase family.
genes like me logo Genes that share domains with MCEE: view

Function for MCEE Gene

Molecular function for MCEE Gene

UniProtKB/Swiss-Prot Function:
Methylmalonyl-CoA epimerase involved in propionyl-CoA metabolism.
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=(R)-methylmalonyl-CoA = (S)-methylmalonyl-CoA; Xref=Rhea:RHEA:20553, ChEBI:CHEBI:57326, ChEBI:CHEBI:57327; EC=5.1.99.1; Evidence={ECO:0000269|PubMed:11481338};.

Enzyme Numbers (IUBMB) for MCEE Gene

Phenotypes From GWAS Catalog for MCEE Gene

Gene Ontology (GO) - Molecular Function for MCEE Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0004493 methylmalonyl-CoA epimerase activity TAS --
GO:0005515 protein binding IPI 25416956
GO:0016853 isomerase activity IEA --
GO:0046872 metal ion binding IEA --
genes like me logo Genes that share ontologies with MCEE: view
genes like me logo Genes that share phenotypes with MCEE: view

Human Phenotype Ontology for MCEE Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Model Products

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for MCEE

No data available for Animal Models , miRNA , Transcription Factor Targets and HOMER Transcription for MCEE Gene

Localization for MCEE Gene

Subcellular locations from UniProtKB/Swiss-Prot for MCEE Gene

Mitochondrion.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for MCEE gene
Compartment Confidence
mitochondrion 5
nucleus 2
cytosol 2
plasma membrane 1
extracellular 1

Subcellular locations from the

Human Protein Atlas (HPA)

Gene Ontology (GO) - Cellular Components for MCEE Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005739 mitochondrion IEA --
GO:0005759 mitochondrial matrix TAS --
genes like me logo Genes that share ontologies with MCEE: view

Pathways & Interactions for MCEE Gene

genes like me logo Genes that share pathways with MCEE: view

Gene Ontology (GO) - Biological Process for MCEE Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0019626 short-chain fatty acid catabolic process TAS --
GO:0046491 L-methylmalonyl-CoA metabolic process IBA,IDA 11481338
genes like me logo Genes that share ontologies with MCEE: view

No data available for SIGNOR curated interactions for MCEE Gene

Drugs & Compounds for MCEE Gene

(7) Drugs for MCEE Gene - From: Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials

(5) Additional Compounds for MCEE Gene - From: HMDB

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
(2R)-Ethylmalonyl-CoA
  • (2R)-Ethylmalonyl-CoA
  • (2R)-Ethylmalonyl-coenzyme A
  • (R)-Ethylmalonyl-coenzyme A
(S)-ethylmalonyl-CoA
  • (2S)-2-Ethylmalonyl-CoA
  • (2S)-Ethylmalonyl coenzyme A
  • (S)-2-Ethylmalonyl-CoA
  • (S)-Ethylmalonyl coenzyme A
  • EtMal-CoA
Methylmalonyl-CoA
  • (R)-Methylmalonyl-CoA
  • (R)-Methylmalonyl-coenzyme A
  • (S)-2-Methyl-3-oxopropanoyl-CoA
  • (S)-Methyl-malonyl-CoA
  • (S)-Methyl-malonyl-coenzyme A
104809-02-1
R-Methylmalonyl-CoA
73173-92-9
S-Methylmalonyl-CoA
  • (S)-Methylmalonyl-CoA
  • (S)-Methylmalonyl-coenzyme A
73173-91-8
genes like me logo Genes that share compounds with MCEE: view

Transcripts for MCEE Gene

mRNA/cDNA for MCEE Gene

1 REFSEQ mRNAs :
5 NCBI additional mRNA sequence :
5 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for MCEE

Alternative Splicing Database (ASD) splice patterns (SP) for MCEE Gene

ExUns: 1a · 1b · 1c ^ 2 ^ 3a · 3b · 3c · 3d ^ 4a · 4b
SP1: -
SP2:
SP3: - - - -
SP4:

Relevant External Links for MCEE Gene

GeneLoc Exon Structure for
MCEE

Expression for MCEE Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for MCEE Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for MCEE Gene

This gene is overexpressed in Salivary gland (13.3), Liver, secretome (9.0), Stomach (6.6), and Adrenal (6.1).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for MCEE Gene



Protein tissue co-expression partners for MCEE Gene

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for MCEE

SOURCE GeneReport for Unigene cluster for MCEE Gene:

Hs.94949

Evidence on tissue expression from TISSUES for MCEE Gene

  • Liver(4.5)
  • Skin(2.2)
  • Muscle(2.1)
  • Intestine(2.1)
  • Heart(2)

Phenotype-based relationships between genes and organs from Gene ORGANizer for MCEE Gene

Germ Layers:
  • endoderm
Systems:
  • digestive
Regions:
Thorax:
  • esophagus
Abdomen:
  • stomach
genes like me logo Genes that share expression patterns with MCEE: view

No data available for mRNA differential expression in normal tissues and mRNA Expression by UniProt/SwissProt for MCEE Gene

Orthologs for MCEE Gene

This gene was present in the common ancestor of animals.

Orthologs for MCEE Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
Mammalia MCEE 30 31
  • 99.81 (n)
OneToOne
Dog
(Canis familiaris)
Mammalia MCEE 30 31
  • 88.07 (n)
OneToOne
Cow
(Bos Taurus)
Mammalia MCEE 30 31
  • 84.2 (n)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Mcee 30
  • 83.9 (n)
Mouse
(Mus musculus)
Mammalia Mcee 30 17 31
  • 83.14 (n)
OneToOne
Oppossum
(Monodelphis domestica)
Mammalia MCEE 31
  • 73 (a)
OneToOne
Platypus
(Ornithorhynchus anatinus)
Mammalia MCEE 31
  • 68 (a)
OneToOne
Chicken
(Gallus gallus)
Aves MCEE 30 31
  • 69.41 (n)
OneToOne
Lizard
(Anolis carolinensis)
Reptilia MCEE 31
  • 66 (a)
OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia mcee 30
  • 68.07 (n)
African clawed frog
(Xenopus laevis)
Amphibia Xl.11455 30
Zebrafish
(Danio rerio)
Actinopterygii mcee 30 31
  • 69.48 (n)
OneToOne
Rainbow Trout
(Oncorhynchus mykiss)
Actinopterygii Omy.3080 30
Worm
(Caenorhabditis elegans)
Secernentea D2030.5 32
  • 70 (a)
mce-1 30 31
  • 64.87 (n)
OneToOne
Sea Vase
(Ciona intestinalis)
Ascidiacea Cin.5894 30
Species where no ortholog for MCEE was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • Alpha proteobacteria (Wolbachia pipientis)
  • Amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • Baker's yeast (Saccharomyces cerevisiae)
  • Barley (Hordeum vulgare)
  • Beta proteobacteria (Neisseria meningitidis)
  • Bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • Common water flea (Daphnia pulex)
  • Corn (Zea mays)
  • E. coli (Escherichia coli)
  • Filamentous fungi (Aspergillus nidulans)
  • Firmicute Bacteria (Streptococcus pneumoniae)
  • Fission Yeast (Schizosaccharomyces pombe)
  • Fruit Fly (Drosophila melanogaster)
  • Green Algae (Chlamydomonas reinhardtii)
  • Honey Bee (Apis mellifera)
  • K. Lactis Yeast (Kluyveromyces lactis)
  • Loblloly Pine (Pinus taeda)
  • Malaria Parasite (Plasmodium falciparum)
  • Medicago Trunc (Medicago Truncatula)
  • Moss (Physcomitrella patens)
  • Orangutan (Pongo pygmaeus)
  • Pig (Sus scrofa)
  • Rice (Oryza sativa)
  • Rice Blast Fungus (Magnaporthe grisea)
  • Schistosome Parasite (Schistosoma mansoni)
  • Sea Anemone (Nematostella vectensis)
  • Sea Squirt (Ciona savignyi)
  • Sea Urchin (Strongylocentrotus purpuratus)
  • Sorghum (Sorghum bicolor)
  • Soybean (Glycine max)
  • Stem Rust Fungus (Puccinia graminis)
  • Sugarcane (Saccharum officinarum)
  • Thale Cress (Arabidopsis thaliana)
  • Tomato (Lycopersicon esculentum)
  • Toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • Wheat (Triticum aestivum)

Evolution for MCEE Gene

ENSEMBL:
Gene Tree for MCEE (if available)
TreeFam:
Gene Tree for MCEE (if available)
Aminode:
Evolutionary constrained regions (ECRs) for MCEE: view image

Paralogs for MCEE Gene

Paralogs for MCEE Gene

genes like me logo Genes that share paralogs with MCEE: view

Variants for MCEE Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for MCEE Gene

SNP ID Clinical significance and condition Chr 02 pos Variation AA Info Type
643880 Uncertain Significance: Methylmalonyl-CoA epimerase deficiency 71,124,349(-) G/C MISSENSE_VARIANT
649586 Uncertain Significance: Methylmalonyl-CoA epimerase deficiency 71,124,273(-) C/T MISSENSE_VARIANT
655143 Uncertain Significance: Methylmalonyl-CoA epimerase deficiency 71,130,210(-) C/A MISSENSE_VARIANT
729893 Benign/Likely Benign: Methylmalonyl-CoA epimerase deficiency 71,124,464(-) A/G SYNONYMOUS_VARIANT
757818 Likely Benign: not provided 71,124,257(-) T/A SYNONYMOUS_VARIANT

Additional dbSNP identifiers (rs#s) for MCEE Gene

Structural Variations from Database of Genomic Variants (DGV) for MCEE Gene

Variant ID Type Subtype PubMed ID
dgv6918n54 CNV loss 21841781
esv22790 CNV loss 19812545
esv2662403 CNV deletion 23128226
esv2675733 CNV deletion 23128226
esv2678453 CNV deletion 23128226
esv2720185 CNV deletion 23290073
esv2759059 CNV loss 17122850
esv2760572 CNV loss 21179565
esv3583859 CNV loss 25503493
esv3591223 CNV loss 21293372
nsv10002 CNV loss 18304495
nsv1009014 CNV gain 25217958
nsv1133067 OTHER inversion 24896259
nsv1146915 OTHER inversion 26484159
nsv2771 CNV deletion 18451855
nsv436287 CNV deletion 17901297
nsv438353 CNV loss 16468122
nsv498925 CNV loss 21111241
nsv508148 CNV deletion 20534489
nsv514075 CNV loss 21397061
nsv517762 CNV gain+loss 19592680
nsv818028 CNV loss 17921354
nsv818039 CNV loss 17921354
nsv819575 CNV gain 19587683
nsv834256 CNV gain 17160897

Variation tolerance for MCEE Gene

Residual Variation Intolerance Score: 72.5% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 8.19; 84.81% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for MCEE Gene

Human Gene Mutation Database (HGMD)
MCEE
SNPedia medical, phenotypic, and genealogical associations of SNPs for
MCEE

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for MCEE Gene

Disorders for MCEE Gene

MalaCards: The human disease database

(12) MalaCards diseases for MCEE Gene - From: OMIM, ClinVar, GTR, Orphanet, DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
methylmalonyl-coa epimerase deficiency
  • methylmalonyl-coa racemase deficiency
methylmalonic acidemia
  • methylmalonic aciduria
methylmalonic aciduria, cblb type
  • methylmalonic acidemia, cblb type
methylmalonic aciduria, cbla type
  • methylmalonic acidemia, cbla type
isolated methylmalonic acidemia
  • methylmalonic acidemia
- elite association - COSMIC cancer census association via MalaCards
Search MCEE in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

MCEE_HUMAN
  • Methylmalonyl-CoA epimerase deficiency (MCEED) [MIM:251120]: Autosomal recessive inborn error of amino acid metabolism, involving valine, threonine, isoleucine and methionine. This organic aciduria may present in the neonatal period with life-threatening metabolic acidosis, hyperammonemia, feeding difficulties, pancytopenia and coma. {ECO:0000269 PubMed:16752391}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Additional Disease Information for MCEE

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
Open Targets Platform
genes like me logo Genes that share disorders with MCEE: view

No data available for Genatlas for MCEE Gene

Publications for MCEE Gene

  1. A homozygous nonsense mutation in the methylmalonyl-CoA epimerase gene (MCEE) results in mild methylmalonic aciduria. (PMID: 16752391) Bikker H … Duran M (Human mutation 2006) 2 3 4 23
  2. Homozygous nonsense mutation in the MCEE gene and siRNA suppression of methylmalonyl-CoA epimerase expression: a novel cause of mild methylmalonic aciduria. (PMID: 16697227) Dobson CM … Gravel RA (Molecular genetics and metabolism 2006) 2 3 23
  3. Propionyl-CoA and adenosylcobalamin metabolism in Caenorhabditis elegans: evidence for a role of methylmalonyl-CoA epimerase in intermediary metabolism. (PMID: 16843692) Chandler RJ … Venditti CP (Molecular genetics and metabolism 2006) 2 3 23
  4. Identification of the human methylmalonyl-CoA racemase gene based on the analysis of prokaryotic gene arrangements. Implications for decoding the human genome. (PMID: 11481338) Bobik TA … Rasche ME (The Journal of biological chemistry 2001) 3 4 23
  5. Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression. (PMID: 20877624) Hendrickson SL … O'Brien SJ (PloS one 2010) 3 41

Products for MCEE Gene

  • Signalway Proteins for MCEE

Sources for MCEE Gene