Version 5.4
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
IDBP-27393
methylcrotonoyl-CoA carboxylase 2 (beta)
IDBP-473713
methylcrotonoyl-CoA carboxylase 2 (beta)
IDBP-478583
methylcrotonoyl-CoA carboxylase 2 (beta)
IDBP-477605
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
ENSMUSG00000021646
View Gene Order
ENSBTAG00000044160
Not yet available
Pathways
NETPATH
REACTOME
REACT_197
Branched-chain amino acid catabolism pathway
REACT_11153
Biotin transport and metabolism pathway
REACT_169312
Defective HLCS causes multiple carboxylase deficiency pathway
REACT_169313
Defective MUT causes methylmalonic aciduria mut type pathway
REACT_169316
Defective MMAA causes methylmalonic aciduria type cblA pathway
REACT_169120
Defective TCN2 causes hereditary megaloblastic anemia pathway
REACT_11238
Metabolism of water-soluble vitamins and cofactors pathway
REACT_169280
Defective AMN causes hereditary megaloblastic anemia 1 pathway
REACT_169149
Defective MTR causes methylmalonic aciduria and homocystinuria type cblG pathway
REACT_169363
Defective LMBRD1 causes methylmalonic aciduria and homocystinuria type cblF pathway
REACT_169178
Defective CD320 causes methylmalonic aciduria pathway
REACT_169429
Defects in cobalamin (B12) metabolism pathway
REACT_169169
Defective MMACHC causes methylmalonic aciduria and homocystinuria type cblC pathway
REACT_169238
Defects in biotin (Btn) metabolism pathway
REACT_13
Metabolism of amino acids and derivatives pathway
REACT_169403
Defective BTD causes biotidinase deficiency pathway
REACT_169415
Defective GIF causes intrinsic factor deficiency pathway
REACT_169385
Defects in vitamin and cofactor metabolism pathway
REACT_169132
Defective CUBN causes hereditary megaloblastic anemia 1 pathway
REACT_169256
Defective MMADHC causes methylmalonic aciduria and homocystinuria type cblD pathway
REACT_169439
Defective MTRR causes methylmalonic aciduria and homocystinuria type cblE pathway
REACT_111217
Metabolism pathway
REACT_169318
Defective MMAB causes methylmalonic aciduria type cblB pathway
REACT_116125
Disease pathway
REACT_11193
Metabolism of vitamins and cofactors pathway
KEGG
hsa00280
Valine, leucine and isoleucine degradation pathway
INOH
INOH website
Valine Leucine Isoleucine degradation pathway
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

If you use InnateDB for your research, please cite the following publication:

Breuer et al., InnateDB: systems biology of innate immunity and beyond - recent updates and continuing curation. Nucl. Acids Res. (2013) 41 (D1) 

InnateDB is being developed jointly by the Brinkman Laboratory (Simon Fraser University, British Columbia, Canada), the Hancock Laboratory (University of British Columbia, Vancouver, British Columbia) and the Lynn EMBL Australia Group (South Australian Health & Medical Research Institute and Flinders University, Adelaide, Australia).

Funding is currently provided by Allergen and EMBL Australia. Previous funding has been provided by Genome Canada, the Foundation for the National Institutes of Health through the Grand Challenges in Global Health initiative and by Teagasc. InnateDB curated interactions are licensed under the Design Science License. All other data is licensed under the terms of the originating database. Contact: innatedb-mail@sfu.ca