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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
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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
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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

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