MCCC2

Protein identityUniProt · HPA

UniProt accession

Q9HCC0

Gene

MCCC2

Ensembl

ENSG00000131844

Chromosome

5

Canonical length

563 aa

Protein class

Disease related genes, Enzymes, Human disease related genes, Metabolic proteins, Potential drug targets, Predicted intracellular proteins

Subcellular location

Mitochondria

OverviewNCBI 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. Alternative splicing results in multiple transcript variants encoding distinct isoforms. [provided by RefSeq, May 2018]

Canonical amino-acid sequenceUniProt

563 residues, UniProt reviewed canonical sequence.

>Q9HCC0|MCCC2
     1  MWAVLRLALR PCARASPAGP RAYHGDSVAS LGTQPDLGSA LYQENYKQMK ALVNQLHERV
    61  EHIKLGGGEK ARALHISRGK LLPRERIDNL IDPGSPFLEL SQFAGYQLYD NEEVPGGGII
   121  TGIGRVSGVE CMIIANDATV KGGAYYPVTV KKQLRAQEIA MQNRLPCIYL VDSGGAYLPR
   181  QADVFPDRDH FGRTFYNQAI MSSKNIAQIA VVMGSCTAGG AYVPAMADEN IIVRKQGTIF
   241  LAGPPLVKAA TGEEVSAEDL GGADLHCRKS GVSDHWALDD HHALHLTRKV VRNLNYQKKL
   301  DVTIEPSEEP LFPADELYGI VGANLKRSFD VREVIARIVD GSRFTEFKAF YGDTLVTGFA
   361  RIFGYPVGIV GNNGVLFSES AKKGTHFVQL CCQRNIPLLF LQNITGFMVG REYEAEGIAK
   421  DGAKMVAAVA CAQVPKITLI IGGSYGAGNY GMCGRAYSPR FLYIWPNARI SVMGGEQAAN
   481  VLATITKDQR AREGKQFSSA DEAALKEPII KKFEEEGNPY YSSARVWDDG IIDPADTRLV
   541  LGLSFSAALN APIEKTDFGI FRM

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against MCCC2 can act on the native protein depends on physical access: surface and secreted proteins are reachable by circulating antibodies, intracellular proteins usually are not.

Antibody reachability

Intracellular

Secreted

No

Transmembrane segments

0

Mean surface accessibility (rSASA)

0.25

Highest tissue expression

110 nTPM

Expression across tissuesHPA

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about MCCC2.

Disease | AllUniProt

Conditions MCCC2 is implicated in, by any mechanism.

• 3-methylcrotonoyl-CoA carboxylase 2 deficiency (MCC2D) MIM:210210

Disease | GeneticClinVar

198 pathogenic / likely-pathogenic of 915 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

• 3-methylcrotonyl-CoA carboxylase 2 deficiency
• Methylcrotonyl-CoA carboxylase deficiency
• MCCC2-related disorder
• Inborn genetic diseases
• Autism spectrum disorder

Genetic constraint and essentialitygnomAD · DepMap

Does the body need this protein intact? Low LOEUF or a strong DepMap dependency means loss or blockade of the protein is likely to be felt.

gnomAD LOEUF (loss-of-function intolerance)

0.9

gnomAD pLI

0

gnomAD missense Z

0.31

DepMap mean gene effect

-0.04

DepMap dependency class

selective

Cancer expressionTCGA

Across TCGA tumor cohorts, this protein is over-expressed in roughly 4% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).

OntologyGO

Biological processes

• branched-chain amino acid catabolic process
• coenzyme A metabolic process
• L-leucine catabolic process

Molecular functions

• ATP binding
• methylcrotonoyl-CoA carboxylase activity

Cellular components

• cytosol
• methylcrotonoyl-CoA carboxylase complex
• mitochondrial matrix
• mitochondrion

Protein domainsUniProt · Pfam · InterPro

• Acetyl-coenzyme A carboxyltransferase, N-terminal
• Acetyl-coenzyme A carboxyltransferase, C-terminal
• ClpP/crotonase-like domain superfamily
• Acetyl-coenzyme A carboxylase carboxyl transferase subunit beta
• Carboxyl transferase domain
• Methylcrotonoyl-CoA carboxylase beta chain MCCB/AccD1-like

KeywordsUniProt

• Acetylation
• ATP-binding
• Ligase
• Mitochondrion
• Nucleotide-binding
• Transit peptide

InteractionsUniProt · HPA

Protein binding partners of MCCC2 in the human serome: UniProt-annotated complex subunits plus reported interactors. Each links to its own Seroatlas record.

• CFTR
• MCCC1