MCEE (methylmalonyl-CoA epimerase)

Gene
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
84693
Gene name Gene Name - the full gene name approved by the HGNC.
Methylmalonyl-CoA epimerase
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
MCEE
Synonyms (NCBI Gene) Gene synonyms aliases
GLOD2, MCE, MMCE
Chromosome Chromosome number
2
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
2p13.3
Summary Summary of gene provided in NCBI Entrez 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 de
SNPs SNP information provided by dbSNP.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all(3)
SNP ID Visualize variation Clinical significance Consequence
rs111033538 G>A,C Pathogenic Coding sequence variant, stop gained, non coding transcript variant, missense variant
rs138436961 G>A Benign, conflicting-interpretations-of-pathogenicity Non coding transcript variant, coding sequence variant, missense variant
rs147401037 T>G Likely-benign, pathogenic, uncertain-significance Missense variant, coding sequence variant, non coding transcript variant
miRNA miRNA information provided by mirtarbase database.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all(11)
miRTarBase ID miRNA Experiments Reference
MIRT1136785 hsa-miR-3607-3p CLIP-seq
MIRT1136786 hsa-miR-3686 CLIP-seq
MIRT1136787 hsa-miR-4652-3p CLIP-seq
MIRT1136788 hsa-miR-4760-3p CLIP-seq
MIRT1136789 hsa-miR-622 CLIP-seq
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all(9)
GO ID Ontology Definition Evidence Reference
GO:0004493 Function Methylmalonyl-CoA epimerase activity IBA 21873635
GO:0004493 Function Methylmalonyl-CoA epimerase activity IDA 11481338
GO:0004493 Function Methylmalonyl-CoA epimerase activity TAS
GO:0005515 Function Protein binding IPI 25416956, 25910212, 31515488, 32296183
GO:0005759 Component Mitochondrial matrix TAS
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
MIM HGNC e!Ensembl
608419 16732 ENSG00000124370
Protein
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
UniProt ID Q96PE7
Protein name Methylmalonyl-CoA epimerase, mitochondrial (EC 5.1.99.1) (DL-methylmalonyl-CoA racemase)
Protein function Methylmalonyl-CoA epimerase involved in propionyl-CoA metabolism.
PDB 3RMU , 6QH4
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF13669 Glyoxalase_4 49 → 160 Family
Sequence
Sequence length 176
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
  KEGG   Reactome
  Valine, leucine and isoleucine degradation
Glyoxylate and dicarboxylate metabolism
Propanoate metabolism
Metabolic pathways
Carbon metabolism 		  Propionyl-CoA catabolism
Associated diseases Disease information provided by ClinVar, GenCC, and GWAS databases.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide Causal Diseases (1)
Causal
Disease term Disease name dbSNP ID References
Methylmalonic aciduria Methylmalonic acidemia due to methylmalonyl-CoA epimerase deficiency rs397509361, rs118204047, rs397509362, rs121918241, rs121918243, rs121918248, rs121918249, rs121918250, rs121918251, rs121918252, rs121918253, rs2127419920, rs121918254, rs121918255, rs121918256
View all (230 more)
Show/Hide Text Mining Associations (7)
Associations from Text Mining
Disease Name Relationship Type References
Dementia Associate 31146325
Methylmalonic acidemia Associate 30682498, 31146325
Methylmalonyl CoA Epimerase Deficiency Inhibit 29104221, 30682498
Methylmalonyl CoA Epimerase Deficiency Associate 29104221, 30682498, 31146325
Neoplasms Associate 35361954
Parkinson Disease Associate 31146325
Stroke Associate 31146325