Homo sapiens Gene: MCCC2
Summary
InnateDB Gene IDBG-27391.6
Last Modified 2014-10-13 [Report errors or provide feedback]
Gene Symbol MCCC2
Gene Name methylcrotonoyl-CoA carboxylase 2 (beta)
Synonyms
Species Homo sapiens
Ensembl Gene ENSG00000131844
Encoded Proteins
methylcrotonoyl-CoA carboxylase 2 (beta)
methylcrotonoyl-CoA carboxylase 2 (beta)
methylcrotonoyl-CoA carboxylase 2 (beta)
methylcrotonoyl-CoA carboxylase 2 (beta)
Protein Structure
Useful resources Stemformatics EHFPI ImmGen
Entrez Gene
Summary This gene encodes the small subunit of 3-methylcrotonyl-CoA carboxylase. This enzyme functions as a heterodimer and catalyzes the carboxylation of 3-methylcrotonyl-CoA to form 3-methylglutaconyl-CoA. Mutations in this gene are associated with 3-Methylcrotonylglycinuria, an autosomal recessive disorder of leucine catabolism. [provided by RefSeq, Jul 2008]
Gene Information
Type Protein coding
Genomic Location Chromosome 5:71587288-71658704
Strand Forward strand
Band q13.2
Transcripts
ENST00000340941 ENSP00000343657
ENST00000512218 ENSP00000423202
ENST00000509358 ENSP00000420994
ENST00000507169
ENST00000505787
ENST00000510895
ENST00000509539 ENSP00000425474
ENST00000505435
Interactions
Number of Interactions This gene and/or its encoded proteins are associated with 22 experimentally validated interaction(s) in this database.
Experimentally validated
Total 22 [view]
Protein-Protein 20 [view]
Protein-DNA 2 [view]
Protein-RNA 0
DNA-DNA 0
RNA-RNA 0
DNA-RNA 0
Gene Ontology

Molecular Function
Accession GO Term
GO:0004485 methylcrotonoyl-CoA carboxylase activity
GO:0005515 protein binding
GO:0005524 ATP binding
GO:0016874 ligase activity
Biological Process
GO:0006552 leucine catabolic process
GO:0006766 vitamin metabolic process
GO:0006767 water-soluble vitamin metabolic process
GO:0006768 biotin metabolic process
GO:0008152 metabolic process
GO:0009083 branched-chain amino acid catabolic process
GO:0015936 coenzyme A metabolic process
GO:0034641 cellular nitrogen compound metabolic process
GO:0044281 small molecule metabolic process
Cellular Component
GO:0005739 mitochondrion
GO:0005759 mitochondrial matrix
GO:0005829 cytosol
Orthologs
Species
Mus musculus
Bos taurus
Gene ID
Gene Order
Method
Confidence
Comments
SSD Ortholog
Ortholog supports species divergence
Not yet available
SSD Ortholog
Ortholog supports species divergence
Pathways
NETPATH
REACTOME
Branched-chain amino acid catabolism pathway
Defective HLCS causes multiple carboxylase deficiency pathway
Defective MUT causes methylmalonic aciduria mut type pathway
Defective MMAA causes methylmalonic aciduria type cblA pathway
Defective TCN2 causes hereditary megaloblastic anemia pathway
Metabolism of water-soluble vitamins and cofactors pathway
Defective AMN causes hereditary megaloblastic anemia 1 pathway
Defective MTR causes methylmalonic aciduria and homocystinuria type cblG pathway
Defective LMBRD1 causes methylmalonic aciduria and homocystinuria type cblF pathway
Defective CD320 causes methylmalonic aciduria pathway
Defects in cobalamin (B12) metabolism pathway
Defective MMACHC causes methylmalonic aciduria and homocystinuria type cblC pathway
Defects in biotin (Btn) metabolism pathway
Metabolism of amino acids and derivatives pathway
Defective BTD causes biotidinase deficiency pathway
Defective GIF causes intrinsic factor deficiency pathway
Defects in vitamin and cofactor metabolism pathway
Defective CUBN causes hereditary megaloblastic anemia 1 pathway
Defective MMADHC causes methylmalonic aciduria and homocystinuria type cblD pathway
Defective MTRR causes methylmalonic aciduria and homocystinuria type cblE pathway
Metabolism pathway
Defective MMAB causes methylmalonic aciduria type cblB pathway
Biotin transport and metabolism pathway
Disease pathway
Metabolism of vitamins and cofactors pathway
KEGG
Valine, leucine and isoleucine degradation pathway
INOH
Valine Leucine Isoleucine degradation pathway
PID BIOCARTA
PID NCI
Cross-References
SwissProt
TrEMBL
UniProt Splice Variant
Entrez Gene
UniGene Hs.604789 Hs.610060 Hs.700065
RefSeq NM_022132
HUGO
OMIM
CCDS CCDS34184
HPRD 01952
IMGT
EMBL
GenPept
RNA Seq Atlas