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Gene

MCCC2

methylcrotonyl-CoA carboxylase subunit 2

Summary

Cytogenetic location
5q13.2
Coordinates
Chromosome 5: 71,587,340–71,658,706 (GRCh38)
Exons
17 exons across 71.4 kb
Protein
563 amino acids
Also known as
MCCB, MCCCβ
MANE Select transcript
ENST00000340941.11NM_022132.5
Locus type
Protein-coding
  • Very high
  • Confident
  • Low
  • Very low

Curated report relevant to this gene

  • Classic Organic Acidurias

    • 3-Methylcrotonyl-CoA Carboxylase DeficiencyAutosomal recessive

      Caused by variants in MCCC1 or MCCC2; many people have no symptoms, but some develop metabolic crises, particularly during illness.

      • ClinGen rates the link definitive
      • 6 GenCC submitters rate it definitive or strong
      Actionability

      Knowing supports awareness of illness-related risk and specialist advice where needed.

How MCCC2 is laid out

  • Coding sequence
  • Untranslated region
  • Intron
  • Direction of transcription
  • Known disease-causing sites
  • Stretches short reads find hard
Chromosome 5, with a bracket where MCCC2 sits. MCCC2 and 3 genes near it on chromosome 5, from 71,123,023 to 72,123,022.Chromosome 55q13.2p15.33p15.32p15.31p15.2p15.1p14.3p14.2p14.1p13.3p13.2p13.1p12p11q11.1q11.2q12.1q12.2q12.3q13.1q13.2q13.3q14.1q14.2q14.3q15q21.1q21.2q21.3q22.1q22.2q22.3q23.1q23.2q23.3q31.1q31.2q31.3q32q33.1q33.2q33.3q34q35.1q35.2q35.371.2 Mb71.4 Mb71.6 Mb71.8 Mb72 MbBDP1: 71,455,639–71,567,820, forward strandBDP1MCCC2: 71,587,340–71,658,706, forward strandMCCC2CARTPT: 71,719,126–71,721,056, forward strandCARTPTMAP1B: 72,107,234–72,209,565, forward strandMAP1BDiagram of MCCC2: 17 exons on the forward strand of chromosome 5Exon 1: 10 known disease-causing sitesExon 2: 6 known disease-causing sitesExon 3: 6 known disease-causing sitesExon 4: 7 known disease-causing sitesExon 5: 14 known disease-causing sitesExon 6: 19 known disease-causing sitesExon 7: 10 known disease-causing sitesExon 8: 6 known disease-causing sitesExon 9: 7 known disease-causing sitesExon 10: 9 known disease-causing sitesExon 11: 5 known disease-causing sitesExon 12: 7 known disease-causing sitesExon 13: 7 known disease-causing sitesExon 14: 13 known disease-causing sitesExon 15: 9 known disease-causing sitesExon 16: 6 known disease-causing sitesExon 17: 8 known disease-causing sitesExon 1: 71,587,340–71,587,554, 215 basesExon 2: 71,592,926–71,592,992, 67 basesExon 3: 71,596,280–71,596,364, 85 basesExon 4: 71,599,659–71,599,760, 102 basesExon 5: 71,602,506–71,602,633, 128 basesExon 6: 71,604,356–71,604,468, 113 basesExon 7: 71,626,640–71,626,753, 114 basesExon 8: 71,632,121–71,632,185, 65 basesExon 9: 71,634,943–71,635,042, 100 basesExon 10: 71,635,151–71,635,246, 96 basesExon 11: 71,641,003–71,641,075, 73 basesExon 12: 71,643,819–71,643,895, 77 basesExon 13: 71,646,211–71,646,277, 67 basesExon 14: 71,649,097–71,649,253, 157 basesExon 15: 71,650,069–71,650,183, 115 basesExon 16: 71,652,669–71,652,754, 86 basesExon 17: 71,656,743–71,658,706, 1,964 bases1246810121416175′3′

Exons of the gene's MANE Select transcript (release v1.5), from NCBI and EMBL-EBI, on the GRCh38 reference genome.

Chromosome bands from UCSC's GRCh38 ideogram (2022-10-29).

Nearby genes from Ensembl release 116, on GRCh38.

Exons make up 3.6 kb of the gene's 71.4 kb; 1,692 of those bases code for the protein.

Sequencing MCCC2

183

positions in MCCC2 where ClinVar classes a change as pathogenic or likely pathogenic

None of them falls in a region short reads find hard.

A whole genome covers all 71.4 kb of MCCC2, introns included, not only the 3.6 kb of exons.

Genes linked to the same conditions

Traits linked to MCCC2

The Human Phenotype Ontology lists these as features of the rare conditions MCCC2 can cause. Each trait's page lists the other genes linked to it.

External links

Where this comes from

  • HGNC: the gene's symbol, name, other symbols and location.
  • MANE Select v1.5, from NCBI and EMBL-EBI: the transcript, its exons and coding sequence.
  • GenCC and ClinGen, released 2026-10-17: which conditions the gene is linked to, and how strongly.
  • The ACMG secondary findings list, SF v3.2.
  • ClinVar and the GIAB stratifications: known disease-causing sites, and the regions short reads find hard.
  • The Human Phenotype Ontology, release 2026-09-01: the traits linked to the gene. Find out more at hpo.jax.org.
  • Data release 2026.10.17-8666dff2.

Cite this page

APA

Dante Labs. (n.d.). MCCC2 gene: methylcrotonyl-CoA carboxylase subunit 2. Retrieved 17 October 2026, from https://dantelabs.com/genes/mccc2

Vancouver

Dante Labs. MCCC2 gene: methylcrotonyl-CoA carboxylase subunit 2 [Internet]. [cited 17 October 2026]. Available from: https://dantelabs.com/genes/mccc2

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