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Aliases for MCCC2 Gene

Aliases for MCCC2 Gene

  • Methylcrotonoyl-CoA Carboxylase 2 (Beta) 2 3
  • MCCB 3 4 6
  • 3-Methylcrotonyl-CoA Carboxylase Non-Biotin-Containing Subunit 3 4
  • 3-Methylcrotonyl-CoA:Carbon Dioxide Ligase Subunit Beta 3 4
  • Methylcrotonoyl-Coenzyme A Carboxylase 2 (Beta) 2 3
  • 3-Methylcrotonyl-CoA Carboxylase 2 3 4
  • MCCase Subunit Beta 3 4
  • EC 4 63
  • Non-Biotin Containing Subunit Of 3-Methylcrotonyl-CoA Carboxylase 3
  • Methylcrotonoyl-CoA Carboxylase Beta Chain, Mitochondrial 3
  • Biotin Carboxylase 3

External Ids for MCCC2 Gene

Previous GeneCards Identifiers for MCCC2 Gene

  • GC05P069689
  • GC05P071116
  • GC05P070921
  • GC05P070967
  • GC05P070918
  • GC05P066088
  • GC05P070883

Summaries for MCCC2 Gene

Entrez Gene Summary for MCCC2 Gene

  • 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]

GeneCards Summary for MCCC2 Gene

MCCC2 (Methylcrotonoyl-CoA Carboxylase 2 (Beta)) is a Protein Coding gene. Diseases associated with MCCC2 include 3-methylcrotonyl-coa carboxylase 2 deficiency and 3 alpha methylcrotonyl-coa carboxylase 2 deficiency. Among its related pathways are Disease and Metabolism. GO annotations related to this gene include methylcrotonoyl-CoA carboxylase activity. An important paralog of this gene is PCCB.

UniProtKB/Swiss-Prot for MCCC2 Gene

  • Carboxyltransferase subunit of the 3-methylcrotonyl-CoA carboxylase, an enzyme that catalyzes the conversion of 3-methylcrotonyl-CoA to 3-methylglutaconyl-CoA, a critical step for leucine and isovaleric acid catabolism.

No data available for Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for MCCC2 Gene

Genomics for MCCC2 Gene

Regulatory Elements for MCCC2 Gene

Epigenetics Products

  • DNA Methylation CpG Assay Predesigned for Pyrosequencing in human,mouse,rat

Genomic Location for MCCC2 Gene

71,587,288 bp from pter
71,658,706 bp from pter
71,419 bases
Plus strand

Genomic View for MCCC2 Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for MCCC2 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for MCCC2 Gene

Proteins for MCCC2 Gene

  • Protein details for MCCC2 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Recommended name:
    Methylcrotonoyl-CoA carboxylase beta chain, mitochondrial
    Protein Accession:
    Secondary Accessions:
    • A6NIY9
    • Q96C27
    • Q9Y4L7

    Protein attributes for MCCC2 Gene

    563 amino acids
    Molecular mass:
    61333 Da
    Quaternary structure:
    • Probably a dodecamer composed of six biotin-containing alpha subunits (MCCC1) and six beta (MCCC2) subunits
    • Sequence=AAH14897.1; Type=Frameshift; Positions=359; Evidence={ECO:0000305};

    Alternative splice isoforms for MCCC2 Gene


neXtProt entry for MCCC2 Gene

Proteomics data for MCCC2 Gene at MOPED

Post-translational modifications for MCCC2 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for MCCC2 Gene

ENSEMBL proteins:
Reactome Protein details:
REFSEQ proteins:

Domains for MCCC2 Gene

Protein Domains for MCCC2 Gene

Suggested Antigen Peptide Sequences for MCCC2 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry



  • Q9HCC0
  • Contains 1 carboxyltransferase domain.
  • Belongs to the AccD/PCCB family.
genes like me logo Genes that share domains with MCCC2: view

No data available for Gene Families for MCCC2 Gene

Function for MCCC2 Gene

Molecular function for MCCC2 Gene

UniProtKB/Swiss-Prot BiophysicochemicalProperties: Kinetic parameters: KM=45 uM for ATP {ECO:0000269 PubMed:17360195}; KM=74 uM for 3-methylcrotonyl-CoA {ECO:0000269 PubMed:17360195}; Note=kcat is 4.0 sec(-1).;
UniProtKB/Swiss-Prot CatalyticActivity: ATP + 3-methylcrotonoyl-CoA + HCO(3)(-) = ADP + phosphate + 3-methylglutaconyl-CoA.
UniProtKB/Swiss-Prot Function: Carboxyltransferase subunit of the 3-methylcrotonyl-CoA carboxylase, an enzyme that catalyzes the conversion of 3-methylcrotonyl-CoA to 3-methylglutaconyl-CoA, a critical step for leucine and isovaleric acid catabolism.

Enzyme Numbers (IUBMB) for MCCC2 Gene

Gene Ontology (GO) - Molecular Function for MCCC2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0004485 methylcrotonoyl-CoA carboxylase activity NAS 11170888
GO:0005515 protein binding IPI 17360195
GO:0005524 ATP binding IEA --
GO:0016874 ligase activity --
genes like me logo Genes that share ontologies with MCCC2: view

Phenotypes for MCCC2 Gene

genes like me logo Genes that share phenotypes with MCCC2: view

Animal Model Products

CRISPR Products

miRNA for MCCC2 Gene

miRTarBase miRNAs that target MCCC2

No data available for Animal Models , Transcription Factor Targeting and HOMER Transcription for MCCC2 Gene

Localization for MCCC2 Gene

Subcellular locations from UniProtKB/Swiss-Prot for MCCC2 Gene

Mitochondrion matrix.

Subcellular locations from

Jensen Localization Image for MCCC2 Gene COMPARTMENTS Subcellular localization image for MCCC2 gene
Compartment Confidence
mitochondrion 5
extracellular 1
peroxisome 1
plasma membrane 1

Gene Ontology (GO) - Cellular Components for MCCC2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005739 mitochondrion NAS 11181649
GO:0005759 mitochondrial matrix TAS --
GO:0005829 cytosol TAS --
genes like me logo Genes that share ontologies with MCCC2: view

Pathways for MCCC2 Gene

SuperPathways for MCCC2 Gene

Superpath Contained pathways
1 Defective BTD causes biotidinase deficiency
2 Metabolism
3 Metabolism of amino acids and derivatives
4 Disease
5 Valine, leucine and isoleucine degradation
genes like me logo Genes that share pathways with MCCC2: view

PCR Array Products

  • Pathway & Disease-focused RT² Profiler PCR Arrays

UniProtKB/Swiss-Prot Q9HCC0-MCCB_HUMAN

  • Pathway: Amino-acid degradation; L-leucine degradation; (S)-3-hydroxy-3-methylglutaryl-CoA from 3-isovaleryl-CoA: step 2/3

Gene Ontology (GO) - Biological Process for MCCC2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006552 leucine catabolic process TAS 11170888
GO:0006766 vitamin metabolic process TAS --
GO:0006767 water-soluble vitamin metabolic process TAS --
GO:0006768 biotin metabolic process TAS --
GO:0008152 metabolic process --
genes like me logo Genes that share ontologies with MCCC2: view

Compounds for MCCC2 Gene

(8) HMDB Compounds for MCCC2 Gene

Compound Synonyms Cas Number PubMed IDs
(E)-2-Methylglutaconic acid
  • (E)-2-Methylglutaconate
  • 3-Methylbut-2-enoyl-CoA
  • 3-Methylglutaconyl-CoA
Adenosine triphosphate
  • 5'-(tetrahydrogen triphosphate) Adenosine
  • adenosindiphosphorsaeure

(1) Drugbank Compounds for MCCC2 Gene

Compound Synonyms Cas Number Type Actions PubMed IDs
  • (+)-cis-Hexahydro-2-oxo-1H-thieno[3,4]imidazole-4-valeric acid
58-85-5 target
genes like me logo Genes that share compounds with MCCC2: view

Transcripts for MCCC2 Gene

Unigene Clusters for MCCC2 Gene

Methylcrotonoyl-CoA carboxylase 2 (beta):
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for MCCC2

Primer Products

  • OriGene qSTAR qPCR primer pairs in human,mouse,rat for MCCC2

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for MCCC2 Gene

ExUns: 1a · 1b ^ 2a · 2b ^ 3 ^ 4 ^ 5a · 5b ^ 6 ^ 7 ^ 8 ^ 9a · 9b ^ 10a · 10b ^ 11a · 11b · 11c ^ 12a · 12b ^ 13 ^ 14 ^ 15 ^ 16 ^ 17
SP1: - - - - - -
SP2: - - - - -
SP3: -
SP5: -

Relevant External Links for MCCC2 Gene

GeneLoc Exon Structure for
ECgene alternative splicing isoforms for

Expression for MCCC2 Gene

mRNA expression in normal human tissues for MCCC2 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Integrated Proteomics: protein expression from ProteomicsDB, PaxDb, MOPED, and MaxQB for MCCC2 Gene

SOURCE GeneReport for Unigene cluster for MCCC2 Gene Hs.604789

genes like me logo Genes that share expressions with MCCC2: view

In Situ Assay Products

No data available for mRNA differential expression in normal tissues and mRNA Expression by UniProt/SwissProt for MCCC2 Gene

Orthologs for MCCC2 Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for MCCC2 Gene

Organism Taxonomy Gene Similarity Type Details
(Pan troglodytes)
Mammalia MCCC2 35
  • 99.35 (n)
  • 99.11 (a)
MCCC2 36
  • 99 (a)
(Bos Taurus)
Mammalia MCCC2 35
  • 89.22 (n)
  • 89.52 (a)
MCCC2 36
  • 89 (a)
(Canis familiaris)
Mammalia MCCC2 35
  • 88.99 (n)
  • 87.92 (a)
MCCC2 36
  • 88 (a)
(Mus musculus)
Mammalia Mccc2 35
  • 83.96 (n)
  • 88.81 (a)
Mccc2 16
Mccc2 36
  • 89 (a)
(Monodelphis domestica)
Mammalia MCCC2 36
  • 83 (a)
(Ornithorhynchus anatinus)
Mammalia -- 36
  • 87 (a)
-- 36
  • 85 (a)
-- 36
  • 74 (a)
(Rattus norvegicus)
Mammalia Mccc2 35
  • 84.49 (n)
  • 88.28 (a)
(Gallus gallus)
Aves MCCC2 35
  • 78.99 (n)
  • 84.34 (a)
MCCC2 36
  • 86 (a)
(Anolis carolinensis)
Reptilia MCCC2 36
  • 81 (a)
African clawed frog
(Xenopus laevis)
Amphibia Xl.15463 35
tropical clawed frog
(Silurana tropicalis)
Amphibia mccc2 35
  • 73.6 (n)
  • 83.79 (a)
Str.17184 35
(Danio rerio)
Actinopterygii Dr.28547 35
mccc2 35
  • 73.73 (n)
  • 83.79 (a)
mccc2 36
  • 81 (a)
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP002761 35
  • 60.83 (n)
  • 68.8 (a)
fruit fly
(Drosophila melanogaster)
Insecta CG3267 35
  • 62.31 (n)
  • 70.9 (a)
CG3267 36
  • 67 (a)
CG3267 37
  • 69 (a)
(Caenorhabditis elegans)
Secernentea F02A9.4 35
  • 62.8 (n)
  • 65.73 (a)
F02A9.4 36
  • 58 (a)
F02A9.4a 37
  • 65 (a)
thale cress
(Arabidopsis thaliana)
eudicotyledons MCCB 35
  • 58.13 (n)
  • 59.79 (a)
(Hordeum vulgare)
Liliopsida Hv.5157 35
(Zea mays)
Liliopsida Zm.5892 35
(Oryza sativa)
Liliopsida Os.27361 35
Os08g0424200 35
  • 62.43 (n)
  • 62.87 (a)
(Triticum aestivum)
Liliopsida Ta.30569 35
bread mold
(Neurospora crassa)
Ascomycetes NCU02127 35
  • 57.14 (n)
  • 60.95 (a)
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.13289 35
sea squirt
(Ciona savignyi)
Ascidiacea -- 36
  • 67 (a)
Species with no ortholog for MCCC2:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • beta proteobacteria (Neisseria meningitidis)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • 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)
  • rainbow trout (Oncorhynchus mykiss)
  • 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)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)

Evolution for MCCC2 Gene

Gene Tree for MCCC2 (if available)
Gene Tree for MCCC2 (if available)

Paralogs for MCCC2 Gene

Paralogs for MCCC2 Gene

Selected SIMAP similar genes for MCCC2 Gene using alignment to 4 proteins:

genes like me logo Genes that share paralogs with MCCC2: view

Variants for MCCC2 Gene

Sequence variations from dbSNP and Humsavar for MCCC2 Gene

SNP ID Clin Chr 05 pos Sequence Context AA Info Type MAF
rs157044 -- 71,601,624(-) AACAC(A/C)CAGCA intron-variant
rs157049 -- 71,632,738(-) gcagc(A/C/G/T)tgaaa intron-variant
rs157191 -- 71,607,881(+) ttgag(C/T)ggttt intron-variant
rs157192 -- 71,617,227(+) TCCCC(A/C/G/T)CATCC intron-variant
rs157193 -- 71,624,844(-) tggtg(A/C/G/T)tgcat intron-variant

Structural Variations from Database of Genomic Variants (DGV) for MCCC2 Gene

Variant ID Type Subtype PubMed ID
nsv830340 CNV Loss 17160897
nsv328811 CNV Loss 16902084

Relevant External Links for MCCC2 Gene

HapMap Linkage Disequilibrium report
Human Gene Mutation Database (HGMD)

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for MCCC2 Gene

Disorders for MCCC2 Gene

(1) OMIM Diseases for MCCC2 Gene (609014)


  • 3-methylcrotonoyl-CoA carboxylase 2 deficiency (MCC2D) [MIM:210210]: An autosomal recessive disorder of leucine catabolism. The phenotype is variable, ranging from neonatal onset with severe neurological involvement to asymptomatic adults. There is a characteristic organic aciduria with massive excretion of 3-hydroxyisovaleric acid and 3-methylcrotonylglycine, usually in combination with a severe secondary carnitine deficiency. {ECO:0000269 PubMed:11170888, ECO:0000269 PubMed:11181649, ECO:0000269 PubMed:11406611, ECO:0000269 PubMed:16010683, ECO:0000269 PubMed:17968484, ECO:0000269 PubMed:21071250, ECO:0000269 PubMed:22150417, ECO:0000269 PubMed:22264772, ECO:0000269 PubMed:22642865}. Note=The disease is caused by mutations affecting the gene represented in this entry.

(1) University of Copenhagen DISEASES for MCCC2 Gene

Relevant External Links for MCCC2

Genetic Association Database (GAD)
Human Genome Epidemiology (HuGE) Navigator
genes like me logo Genes that share disorders with MCCC2: view

Publications for MCCC2 Gene

  1. Cloning of the human MCCA and MCCB genes and mutations therein reveal the molecular cause of 3-methylcrotonyl-CoA: carboxylase deficiency. (PMID: 11406611) Holzinger A. … Roscher A.A. (Hum. Mol. Genet. 2001) 3 4 23
  2. Novel mutations in five Japanese patients with 3-methylcrotonyl-CoA carboxylase deficiency. (PMID: 17968484) Uematsu M. … Ohura T. (J. Hum. Genet. 2007) 3 4
  3. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard D.S. … Malek J. (Genome Res. 2004) 3 4
  4. 3-Methylcrotonyl-CoA carboxylase deficiency: mutation analysis in 28 probands, 9 symptomatic and 19 detected by newborn screening. (PMID: 16010683) Dantas M.F. … Baumgartner M.R. (Hum. Mutat. 2005) 3 4
  5. Mitochondrial targeting signals and mature peptides of 3- methylcrotonyl-CoA carboxylase. (PMID: 16023992) Stadler S.C. … Holzinger A. (Biochem. Biophys. Res. Commun. 2005) 3 4

Products for MCCC2 Gene

Sources for MCCC2 Gene

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