Free for academic non-profit institutions. Other users need a Commercial license

Aliases for MCEE Gene

Aliases for MCEE Gene

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

External Ids for MCEE Gene

Previous GeneCards Identifiers for MCEE Gene

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

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 Mcee-Related Methylmalonic Acidemia. Among its related pathways are Metabolism and Glyoxylate and dicarboxylate metabolism. GO annotations related to this gene include methylmalonyl-CoA epimerase activity.

No data available for UniProtKB/Swiss-Prot , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for MCEE Gene

Genomics for MCEE Gene

Regulatory Elements for MCEE Gene

Enhancers for MCEE Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH02F071128 1.2 ENCODE 19.8 -0.4 -417 4.4 HDGF PKNOX1 CREB3L1 ZFP64 ARID4B SIN3A DMAP1 ZNF2 YY1 CBX5 TEX261 MCEE MPHOSPH10 NAGK PCYOX1 ANKRD53 SNRPG LOC101060051
GH02F070189 1.2 ENCODE 12.5 +939.5 939475 2.2 HDGF PKNOX1 MLX CREB3L1 ZFP64 ARID4B SIN3A DMAP1 ZNF2 YY1 PCYOX1 MPHOSPH10 TEX261 PCBP1-AS1 MCEE CD207 GMCL1 C2orf42 SNRPG CLEC4F
GH02F071101 1.1 Ensembl ENCODE 8.2 +27.6 27632 2.9 BCOR SAP130 TEAD4 CHD4 ARID4B ZMYM3 CEBPG ZNF121 ZNF316 ADNP NAGK MCEE GC02P071084
GH02F071082 0.7 Ensembl 4.8 +46.7 46687 2.0 MTA2 RNF2 CBFB JUNB TRIM22 BMI1 TBX21 SP1 TARDBP EED MCEE GC02P071084 GC02P071073
GH02F071121 0.7 ENCODE 0.4 +8.5 8492 0.6 TFE3 KLF6 E2F5 ARID4B SIN3A REST ZNF644 ZSCAN9 RARA NFIL3 MCEE GC02P071084
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around MCEE on UCSC Golden Path with GeneCards custom track

Promoters for MCEE Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000013912 88 3201 HDGF PKNOX1 CREB3L1 ZFP64 ARID4B SIN3A DMAP1 ZNF2 YY1 CBX5

Genomic Location for MCEE Gene

Chromosome:
2
Start:
71,109,676 bp from pter
End:
71,130,288 bp from pter
Size:
20,613 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

Suggested Antigen Peptide Sequences for MCEE Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q96PE7

UniProtKB/Swiss-Prot:

MCEE_HUMAN :
  • Belongs to the glyoxalase I family.
Family:
  • Belongs to the glyoxalase I family.
genes like me logo Genes that share domains with MCEE: view

No data available for Gene Families for MCEE Gene

Function for MCEE Gene

Molecular function for MCEE Gene

UniProtKB/Swiss-Prot CatalyticActivity:
(R)-methylmalonyl-CoA = (S)-methylmalonyl-CoA.

Enzyme Numbers (IUBMB) 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

Inhibitory RNA Products

Clone Products

  • Addgene plasmids for MCEE

Flow Cytometry Products

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

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 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

(6) Drugs for MCEE Gene - From: Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials

(6) Additional Compounds for MCEE Gene - From: Novoseek and HMDB

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
(2R)-Ethylmalonyl-CoA
(S)-ethylmalonyl-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

Unigene Clusters for MCEE Gene

Methylmalonyl CoA epimerase:
Representative Sequences:

Inhibitory RNA Products

Clone Products

  • Addgene plasmids for MCEE

Flow Cytometry Products

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
ECgene alternative splicing isoforms for
MCEE

Expression for MCEE Gene

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

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, PaxDb, MaxQB, and MOPED for MCEE Gene



Protein tissue co-expression partners for MCEE Gene

NURSA nuclear receptor signaling pathways regulating expression of MCEE Gene:

MCEE

SOURCE GeneReport for Unigene cluster for MCEE Gene:

Hs.94949
genes like me logo Genes that share expression patterns with MCEE: view

Primer Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , 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 34 35
  • 99.81 (n)
dog
(Canis familiaris)
Mammalia MCEE 34 35
  • 88.07 (n)
cow
(Bos Taurus)
Mammalia MCEE 34 35
  • 84.2 (n)
rat
(Rattus norvegicus)
Mammalia Mcee 34
  • 83.9 (n)
mouse
(Mus musculus)
Mammalia Mcee 34 16 35
  • 83.14 (n)
oppossum
(Monodelphis domestica)
Mammalia MCEE 35
  • 73 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia MCEE 35
  • 68 (a)
OneToOne
chicken
(Gallus gallus)
Aves MCEE 34 35
  • 69.41 (n)
lizard
(Anolis carolinensis)
Reptilia MCEE 35
  • 66 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia mcee 34
  • 68.07 (n)
African clawed frog
(Xenopus laevis)
Amphibia Xl.11455 34
zebrafish
(Danio rerio)
Actinopterygii mcee 34 35
  • 69.48 (n)
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.3080 34
worm
(Caenorhabditis elegans)
Secernentea D2030.5 36
  • 70 (a)
mce-1 34 35
  • 64.87 (n)
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.5894 34
Species where no ortholog for MCEE was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya 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 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)

Paralogs for MCEE Gene

No data available for Paralogs for MCEE Gene

Variants for MCEE Gene

Sequence variations from dbSNP and Humsavar for MCEE Gene

SNP ID Clin Chr 02 pos Sequence Context AA Info Type
rs111033538 Pathogenic 71,124,445(-) TGGGT(C/T)GACTC nc-transcript-variant, reference, stop-gained
rs138436961 Pathogenic 71,110,074(+) ACTGC(A/G)GATCT nc-transcript-variant, reference, missense
rs147401037 Pathogenic 71,124,406(+) AGCCT(G/T)TTCCA nc-transcript-variant, reference, missense
rs796051990 Likely pathogenic 71,110,040(-) AGCAC(A/G)TGGAA nc-transcript-variant, reference, missense
rs11541017 Benign 71,124,357(-) TGAAG(C/T)GGTCC intron-variant, nc-transcript-variant, reference, missense

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)

Relevant External Links for MCEE Gene

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

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

Disorders for MCEE Gene

MalaCards: The human disease database

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

Disorder Aliases PubMed IDs
methylmalonyl-coa epimerase deficiency
  • methylmalonic acidemia due to methylmalonyl-coa epimerase deficiency
mcee-related methylmalonic acidemia
  • methylmalonyl-coa epimerase deficiency
methylmalonic aciduria, vitamin b12-responsive
  • methylmalonic aciduria, cbla type
- 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.

Relevant External Links for MCEE

Genetic Association Database (GAD)
MCEE
Human Genome Epidemiology (HuGE) Navigator
MCEE
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
MCEE
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. (Hum. Mutat. 2006) 2 3 4 22 64
  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 C.M. … Gravel R.A. (Mol. Genet. Metab. 2006) 2 3 22 64
  3. Propionyl-CoA and adenosylcobalamin metabolism in Caenorhabditis elegans: evidence for a role of methylmalonyl-CoA epimerase in intermediary metabolism. (PMID: 16843692) Chandler R.J. … Venditti C.P. (Mol. Genet. Metab. 2006) 2 3 22 64
  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 T.A. … Rasche M.E. (J. Biol. Chem. 2001) 3 4 22 64
  5. Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression. (PMID: 20877624) Hendrickson S.L. … O'Brien S.J. (PLoS ONE 2010) 3 46 64

Products for MCEE Gene

Sources for MCEE Gene

Content
Loading form....