Gene Gene information from NCBI Gene database.
Entrez ID 64087
Gene name Methylcrotonyl-CoA carboxylase subunit 2
Gene symbol MCCC2
Synonyms (NCBI Gene)
MCCBMCCCbeta
Chromosome 5
Chromosome location 5q13.2
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-Methylcrot
SNPs SNP information provided by dbSNP.
37
SNP ID Visualize variation Clinical significance Consequence
rs35068278 C>G Conflicting-interpretations-of-pathogenicity, uncertain-significance Non coding transcript variant, coding sequence variant, genic downstream transcript variant, missense variant
rs119103219 G>A,C Pathogenic, uncertain-significance Missense variant, coding sequence variant, non coding transcript variant
rs119103220 G>A Pathogenic Missense variant, coding sequence variant, non coding transcript variant
rs119103221 C>G Pathogenic Missense variant, coding sequence variant, non coding transcript variant
rs119103223 G>C Pathogenic, uncertain-significance Missense variant, coding sequence variant, non coding transcript variant
miRNA miRNA information provided by mirtarbase database.
640
miRTarBase ID miRNA Experiments Reference
MIRT016273 hsa-miR-193b-3p Proteomics 21512034
MIRT039205 hsa-miR-769-5p CLASH 23622248
MIRT646936 hsa-miR-4714-3p HITS-CLIP 23824327
MIRT646935 hsa-miR-6849-3p HITS-CLIP 23824327
MIRT646934 hsa-miR-939-3p HITS-CLIP 23824327
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
28
GO ID Ontology Definition Evidence Reference
GO:0000166 Function Nucleotide binding IEA
GO:0004485 Function Methylcrotonoyl-CoA carboxylase activity IBA
GO:0004485 Function Methylcrotonoyl-CoA carboxylase activity IDA 17360195
GO:0004485 Function Methylcrotonoyl-CoA carboxylase activity IEA
GO:0004485 Function Methylcrotonoyl-CoA carboxylase activity IEA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
609014 6937 ENSG00000131844
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q9HCC0
Protein name Methylcrotonoyl-CoA carboxylase beta chain, mitochondrial (MCCase subunit beta) (EC 6.4.1.4) (3-methylcrotonyl-CoA carboxylase 2) (3-methylcrotonyl-CoA carboxylase non-biotin-containing subunit) (3-methylcrotonyl-CoA:carbon dioxide ligase subunit beta)
Protein 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. {ECO:0000269|PubMed:17360
PDB 8J4Z , 8J73 , 8J78 , 8J7D , 8J99 , 8JAK , 8JAW , 8JXL , 8JXM , 8JXN , 8K2V , 8XL6 , 8XL7 , 8XL8
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF01039 Carboxyl_trans 74 558 Carboxyl transferase domain Family
Sequence
Sequence length 563
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  KEGG  Reactome
  Valine, leucine and isoleucine degradation
Metabolic pathways
  Biotin transport and metabolism
Defective HLCS causes multiple carboxylase deficiency
Branched-chain amino acid catabolism
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
18
Evidence Score: ★☆☆☆☆  Gene-disease association found in Text Mining only ★★☆☆☆  Found in Text Mining and Unknown/Other Associations ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession Evidence Score
3-methylcrotonyl-CoA carboxylase 2 deficiency Likely pathogenic; Pathogenic rs1352606118, rs398124372, rs2112308599, rs2112460011, rs730880265, rs2112251301, rs2112308910, rs2112437401, rs2112438432, rs764286389, rs2112251855, rs758794885, rs2112427637, rs2112468012, rs2112437820
View all (128 more)
RCV001312292
RCV003764769
RCV001378821
RCV001379035
RCV001379033
View all (148 more)
★★★★★
ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Autism spectrum disorder Likely pathogenic; Pathogenic rs119103221 RCV003313912
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
MCCC2-related disorder Likely pathogenic; Pathogenic rs150591260, rs757052602, rs2530858195, rs148773718, rs760881963, rs751970792, rs277995 RCV003407683
RCV004751353
RCV003412441
RCV003915571
RCV004751926
View all (2 more)
★★★★★
ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Methylcrotonyl-CoA carboxylase deficiency Likely pathogenic; Pathogenic rs142887940, rs2112463755, rs765438239, rs769558016, rs119103219, rs119103221, rs119103222, rs119103224, rs2530723770, rs774241918, rs2530733439, rs547662164, rs150591260, rs757052602, rs781013376
View all (10 more)
RCV005419298
RCV004017888
RCV003403657
RCV004782864
RCV005406719
View all (20 more)
★★★★★
ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Phenotype Name Clinical Significance Source Evidence Score
3-METHYLCROTONYL-COA CARBOXYLASE DEFICIENCY Disgenet, Orphanet
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
AUTISM SPECTRUM DISORDERS Disgenet
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
CANNABIS DEPENDENCE GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Colon adenocarcinoma - ClinVar
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text Mining Disease associations identified through text mining
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
3-methylcrotonyl CoA carboxylase 1 deficiency 3-methylcrotonyl CoA carboxylase deficiency CLINGEN_DG 11170888, 11181649, 17968484, 22642865, 27601257
★☆☆☆☆
Found in Text Mining only
3-methylcrotonyl CoA carboxylase 1 deficiency 3-methylcrotonyl CoA carboxylase deficiency BEFREE 16835865, 22264772
★☆☆☆☆
Found in Text Mining only
3-methylcrotonyl CoA carboxylase 1 deficiency 3-methylcrotonyl CoA carboxylase deficiency ORPHANET_DG 22264772, 22642865
★☆☆☆☆
Found in Text Mining only
3-methylcrotonyl CoA carboxylase 2 deficiency 3-methylcrotonyl CoA carboxylase deficiency UNIPROT_DG 11170888, 11181649, 11406611, 16010683, 17968484, 21071250, 22150417, 22264772, 22642865, 25382614, 27601257
★☆☆☆☆
Found in Text Mining only
3-methylcrotonyl CoA carboxylase 2 deficiency 3-methylcrotonyl CoA carboxylase deficiency CLINVAR_DG 11170888, 11181649, 16010683, 17908719, 17968484, 21071250, 22030835, 22150417, 22264772, 22642865, 25087612, 25356967, 27601257, 28018443
★☆☆☆☆
Found in Text Mining only
3-methylcrotonyl CoA carboxylase 2 deficiency 3-methylcrotonyl CoA carboxylase deficiency GENOMICS_ENGLAND_DG 27604308
★☆☆☆☆
Found in Text Mining only
3-methylcrotonyl CoA carboxylase 2 deficiency 3-methylcrotonyl CoA carboxylase deficiency CTD_human_DG
★☆☆☆☆
Found in Text Mining only
3-methylcrotonyl-CoA carboxylase deficiency 3-methylcrotonyl CoA carboxylase deficiency Orphanet
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Alopecia Alopecia HPO_DG
★☆☆☆☆
Found in Text Mining only
Autism Spectrum Disorder Autism Pubtator 38287090 Associate
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)