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    MCCC2 methylcrotonyl-CoA carboxylase subunit 2 [ Homo sapiens (human) ]

    Gene ID: 64087, updated on 11-Apr-2024

    Summary

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    Official Symbol
    MCCC2provided by HGNC
    Official Full Name
    methylcrotonyl-CoA carboxylase subunit 2provided by HGNC
    Primary source
    HGNC:HGNC:6937
    See related
    Ensembl:ENSG00000131844 MIM:609014; AllianceGenome:HGNC:6937
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    MCCB; MCCCbeta
    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. Alternative splicing results in multiple transcript variants encoding distinct isoforms. [provided by RefSeq, May 2018]
    Expression
    Ubiquitous expression in prostate (RPKM 27.1), kidney (RPKM 27.0) and 25 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    Location:
    5q13.2
    Exon count:
    19
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 5 NC_000005.10 (71587340..71658706)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 5 NC_060929.1 (72068680..72140018)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 5 NC_000005.9 (70883167..70954533)

    Chromosome 5 - NC_000005.10Genomic Context describing neighboring genes Neighboring gene B double prime 1, subunit of RNA polymerase III transcription initiation factor IIIB Neighboring gene high mobility group nucleosome binding domain 1 pseudogene 12 Neighboring gene uncharacterized LOC124900999 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr5:70882826-70883612 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr5:71015240-71016126 Neighboring gene CART prepropeptide Neighboring gene catenin beta 1 pseudogene

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Apr 4 07:08:55 2018

    Bibliography

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    Related articles in PubMed

    1. [Analysis of MCCC2 gene variant in a pedigree affected with 3-methylcrotonyl coenzyme A carboxylase deficiency]. Li R, et al. Zhonghua Yi Xue Yi Chuan Xue Za Zhi, 2021 Jan 10. PMID 33423264
    2. MCCC2 overexpression predicts poorer prognosis and promotes cell proliferation in colorectal cancer. Dai W, et al. Exp Mol Pathol, 2020 Aug. PMID 32205097
    3. Methylcrotonoyl-CoA carboxylase 2 overexpression predicts an unfavorable prognosis and promotes cell proliferation in breast cancer. Liu Y, et al. Biomark Med, 2019 Apr. PMID 30895811
    4. Crystal structure of the biotin carboxylase domain of human acetyl-CoA carboxylase 2. Cho YS, et al. Proteins, 2008 Jan 1. PMID 17876819
    5. [Genetic analysis of newborns with abnormal metabolism of 3-hydroxyisovalerylcarnitine]. Wu D, et al. Zhejiang Da Xue Xue Bao Yi Xue Ban, 2019 Jun 25. PMID 31901042, Free PMC Article

    See all (107) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. MCCC2 is a novel mediator between mitochondria and telomere and functions as an oncogene in colorectal cancer.
      Title: MCCC2 is a novel mediator between mitochondria and telomere and functions as an oncogene in colorectal cancer.
    2. [Analysis of MCCC2 gene variant in a pedigree affected with 3-methylcrotonyl coenzyme A carboxylase deficiency].
      Title: [Analysis of MCCC2 gene variant in a pedigree affected with 3-methylcrotonyl coenzyme A carboxylase deficiency].
    3. MCCC2 overexpression predicts poorer prognosis and promotes cell proliferation in colorectal cancer.
      Title: MCCC2 overexpression predicts poorer prognosis and promotes cell proliferation in colorectal cancer.
    4. MCCC2 overexpression predicts an unfavorable prognosis and promotes cell proliferation in breast cancer
      Title: Methylcrotonoyl-CoA carboxylase 2 overexpression predicts an unfavorable prognosis and promotes cell proliferation in breast cancer.
    5. Mutations on MCCC1 and MCCC2 genes are the major genetic causes for the increased C5-OH in neonates
      Title: [Genetic analysis of newborns with abnormal metabolism of 3-hydroxyisovalerylcarnitine].
    6. This study reports data mainly obtained from the Portuguese newborn screening program collected over a ten-year period. Analysis of the MCCC1 and MCCC2 genes yielded 26 previously unreported mutations and a variant of clinically unknown significance.
      Title: 3-Methylcrotonyl-CoA carboxylase deficiency: Mutational spectrum derived from comprehensive newborn screening.
    7. Novel mutation in MCCC2 gene was identified in Chinese population.
      Title: Identification of eight novel mutations and transcript analysis of two splicing mutations in Chinese newborns with MCC deficiency.
    8. Mutation in 3-methylcrotonyl CoA carboxylase 2 gene is associated with 3-methylcrotonyl-CoA carboxylase deficiency.
      Title: A single mutation in MCCC1 or MCCC2 as a potential cause of positive screening for 3-methylcrotonyl-CoA carboxylase deficiency.
    9. study reports eight different mutant alleles of MCCC1 or MCCC2 including six novel mutations in Korean patients with 3-methylcrotonyl-CoA carboxylase (MCC) deficiency
      Title: Mutational spectrum in eight Korean patients with 3-methylcrotonyl-CoA carboxylase deficiency.
    10. identified two novel MCCA and four novel MCCB mutant alleles from five MCC-deficient patients
      Title: Novel mutations in the human MCCA and MCCB gene causing methylcrotonylglycinuria.
    Submit: New GeneRIF Correction See all GeneRIFs (15)

    Phenotypes

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    Find tests for this gene in the NIH Genetic Testing Registry (GTR)

    Review eQTL and phenotype association data in this region using PheGenI

    Associated conditions

    Description Tests
    3-methylcrotonyl-CoA carboxylase 2 deficiency
    MedGen: C1859499 OMIM: 210210 GeneReviews: Not available
    		Compare labs

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Genotypes

    Pathways from PubChem

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    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables ATP binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    contributes_to methylcrotonoyl-CoA carboxylase activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    contributes_to methylcrotonoyl-CoA carboxylase activity IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    contributes_to methylcrotonoyl-CoA carboxylase activity NAS
    Non-traceable Author Statement
    more info
    		 PubMed 
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in L-leucine catabolic process IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in L-leucine catabolic process IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in L-leucine catabolic process TAS
    Traceable Author Statement
    more info
    		 PubMed 
    involved_in branched-chain amino acid catabolic process NAS
    Non-traceable Author Statement
    more info
    		 PubMed 
    involved_in coenzyme A metabolic process IEA
    Inferred from Electronic Annotation
    more info
    		  
    Component Evidence Code Pubs
    part_of 3-methylcrotonyl-CoA carboxylase complex, mitochondrial IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    part_of 3-methylcrotonyl-CoA carboxylase complex, mitochondrial NAS
    Non-traceable Author Statement
    more info
    		 PubMed 
    part_of 3-methylcrotonyl-CoA carboxylase complex, mitochondrial TAS
    Traceable Author Statement
    more info
    		 PubMed 
    located_in cytosol TAS
    Traceable Author Statement
    more info
    		  
    part_of methylcrotonoyl-CoA carboxylase complex IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    part_of methylcrotonoyl-CoA carboxylase complex IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in mitochondrial matrix IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in mitochondrial matrix TAS
    Traceable Author Statement
    more info
    		  
    is_active_in mitochondrion IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in mitochondrion IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in mitochondrion NAS
    Non-traceable Author Statement
    more info
    		 PubMed 

    General protein information

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    Preferred Names
    methylcrotonoyl-CoA carboxylase beta chain, mitochondrial
    Names
    3-methylcrotonyl-CoA carboxylase 2
    3-methylcrotonyl-CoA carboxylase non-biotin-containing subunit
    3-methylcrotonyl-CoA:carbon dioxide ligase subunit beta
    MCCase subunit beta
    biotin carboxylase
    methylcrotonoyl-CoA carboxylase 2 (beta)
    methylcrotonoyl-Coenzyme A carboxylase 2 (beta)
    non-biotin containing subunit of 3-methylcrotonyl-CoA carboxylase
    testicular secretory protein Li 29
    NP_001350076.1
    NP_071415.1
    XP_011541831.1
    XP_016865177.1
    XP_047273424.1
    XP_047273425.1
    XP_047273426.1
    XP_047299272.1
    XP_054209021.1
    XP_054209022.1
    XP_054209023.1
    XP_054209024.1
    XP_054209025.1

    NCBI Reference Sequences (RefSeq)

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    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    Genomic

    1. NG_008882.1 RefSeqGene

      Range
      5053..76419
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001363147.1 → NP_001350076.1  methylcrotonoyl-CoA carboxylase beta chain, mitochondrial isoform 2 precursor

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) lacks an in-frame exon compared to variant 1 and encodes a shorter isoform (2) compared to isoform 1.
      Source sequence(s)
      AC138832, AC143336
      Consensus CDS
      CCDS93731.1
      UniProtKB/TrEMBL
      A0A804HK37
      Related
      ENSP00000507012.1, ENST00000683789.1
      Conserved Domains (1) summary
      cl27613
      Location:36 → 525
      Carboxyl_trans; Carboxyl transferase domain

    2. NM_022132.5 → NP_071415.1  methylcrotonoyl-CoA carboxylase beta chain, mitochondrial isoform 1 precursor

      See identical proteins and their annotated locations for NP_071415.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) encodes the longer isoform (1).
      Source sequence(s)
      AB050049, AC143336, AK025591, CN309723
      Consensus CDS
      CCDS34184.1
      UniProtKB/Swiss-Prot
      A6NIY9, Q96C27, Q9HCC0, Q9Y4L7
      UniProtKB/TrEMBL
      A0A140VK29, A0A804HJ84
      Related
      ENSP00000343657.6, ENST00000340941.11
      Conserved Domains (1) summary
      cl27613
      Location:36 → 563
      Carboxyl_trans; Carboxyl transferase domain

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000005.10 Reference GRCh38.p14 Primary Assembly

      Range
      71587340..71658706
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_017009688.2 → XP_016865177.1  methylcrotonoyl-CoA carboxylase beta chain, mitochondrial isoform X2

      UniProtKB/TrEMBL
      D6RDF7
      Related
      ENSP00000420994.3, ENST00000509358.7

    2. XM_047417468.1 → XP_047273424.1  methylcrotonoyl-CoA carboxylase beta chain, mitochondrial isoform X1

      UniProtKB/TrEMBL
      A0A804HHS4
      Related
      ENSP00000506735.1, ENST00000683882.1

    3. XM_047417469.1 → XP_047273425.1  methylcrotonoyl-CoA carboxylase beta chain, mitochondrial isoform X4

    4. XM_011543529.3 → XP_011541831.1  methylcrotonoyl-CoA carboxylase beta chain, mitochondrial isoform X3

      UniProtKB/TrEMBL
      D6RDF7
      Conserved Domains (1) summary
      cl23717
      Location:84 → 255
      crotonase-like; Crotonase/Enoyl-Coenzyme A (CoA) hydratase superfamily. This superfamily contains a diverse set of enzymes including enoyl-CoA hydratase, napthoate synthase, methylmalonyl-CoA decarboxylase, 3-hydoxybutyryl-CoA dehydratase, and dienoyl-CoA isomerase. ...

    5. XM_047417470.1 → XP_047273426.1  methylcrotonoyl-CoA carboxylase beta chain, mitochondrial isoform X5

    Reference GRCh38.p14 PATCHES

    Genomic

    1. NW_025791777.1 Reference GRCh38.p14 PATCHES

      Range
      2074427..2098393
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_047443316.1 → XP_047299272.1  methylcrotonoyl-CoA carboxylase beta chain, mitochondrial isoform X6

    Reference GRCh38.p14 ALT_REF_LOCI_1

    Genomic

    1. NW_003315917.2 Reference GRCh38.p14 ALT_REF_LOCI_1

      Range
      1585825..1610592
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Reference GRCh38.p14 ALT_REF_LOCI_2

    Genomic

    1. NT_187651.1 Reference GRCh38.p14 ALT_REF_LOCI_2

      Range
      1117315..1142082
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060929.1 Alternate T2T-CHM13v2.0

      Range
      72068680..72140018
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054353047.1 → XP_054209022.1  methylcrotonoyl-CoA carboxylase beta chain, mitochondrial isoform X2

    2. XM_054353046.1 → XP_054209021.1  methylcrotonoyl-CoA carboxylase beta chain, mitochondrial isoform X1

      UniProtKB/TrEMBL
      A0A804HHS4

    3. XM_054353049.1 → XP_054209024.1  methylcrotonoyl-CoA carboxylase beta chain, mitochondrial isoform X4

    4. XM_054353048.1 → XP_054209023.1  methylcrotonoyl-CoA carboxylase beta chain, mitochondrial isoform X3

    5. XM_054353050.1 → XP_054209025.1  methylcrotonoyl-CoA carboxylase beta chain, mitochondrial isoform X5

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q9HCC0.1 GenPept UniProtKB/Swiss-Prot:Q9HCC0

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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