Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
64087
Gene name Gene Name - the full gene name approved by the HGNC.
Methylcrotonyl-CoA carboxylase subunit 2
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
MCCC2
Synonyms (NCBI Gene) Gene synonyms aliases
MCCB, MCCCbeta
Chromosome Chromosome number
5
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
5q13.2
Summary Summary of gene provided in NCBI Entrez 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-Methylcrot
SNPs SNP information provided by dbSNP.
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.
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 information of associated ontologies with gene provided by GO database.
GO ID Ontology Definition Evidence Reference
GO:0002169 Component 3-methylcrotonyl-CoA carboxylase complex, mitochondrial NAS 11170888, 11181649
GO:0002169 Component 3-methylcrotonyl-CoA carboxylase complex, mitochondrial TAS 22869039
GO:0004485 Function Methylcrotonoyl-CoA carboxylase activity IBA 21873635
GO:0004485 Function Methylcrotonoyl-CoA carboxylase activity IDA 17360195
GO:0004485 Function Methylcrotonoyl-CoA carboxylase activity NAS 11170888, 11181649
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM HGNC e!Ensembl
609014 6937 ENSG00000131844
Protein
UniProt ID 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 information provided by ClinVar, GenCC, and GWAS databases.
Causal
Disease term Disease name dbSNP ID References
3-methylcrotonyl coa carboxylase deficiency 3-methylcrotonyl CoA carboxylase 1 deficiency, 3-methylcrotonyl CoA carboxylase 2 deficiency, 3-methylcrotonyl-CoA carboxylase deficiency rs587776533, rs119103219, rs119103220, rs119103221, rs119103222, rs119103223, rs119103224, rs119103225, rs119103226, rs730880265, rs119103212, rs119103213, rs119103214, rs119103215, rs119103216
View all (78 more)
17968484, 27601257, 11181649, 22264772, 22642865, 11170888, 28018443, 25356967, 16010683, 21071250, 27604308, 22150417, 22030835, 25087612, 17908719
View all (2 more)
Developmental delay Global developmental delay rs28941770, rs199469464, rs281865469, rs143747297, rs398123009, rs587777428, rs786205133, rs606231459, rs797044854, rs797045027, rs864309504, rs878853160, rs886039902, rs886042046, rs886041291
View all (32 more)
Mental retardation Intellectual Disability rs5742905, rs267607136, rs267607137, rs2131714307, rs267607038, rs267607042, rs80338685, rs137853127, rs80338815, rs28940893, rs387906309, rs121908096, rs121908099, rs587784365, rs121918315
View all (1024 more)
Propionic acidemia Propionic acidemia rs121964959, rs587776758, rs121964960, rs111033542, rs202247821, rs121964961, rs1576327011, rs2147483647, rs121964957, rs121964958, rs1362195093, rs202247814, rs202247815, rs138149179, rs397507445
View all (158 more)
Unknown
Disease term Disease name Evidence References Source
Hyperglycinuria HYPERGLYCINURIA (disorder) ClinVar
Myocardial infarction Myocardial Infarction 21211798 ClinVar
3-methylcrotonyl CoA carboxylase deficiency 3-methylcrotonyl-CoA carboxylase 2 deficiency, 3-methylcrotonyl-CoA carboxylase deficiency GenCC
Associations from Text Mining
Disease Name Relationship Type References
3 methylcrotonyl CoA carboxylase 1 deficiency Associate 11181649, 14960587, 15359379, 19706617, 22642865
Autism Spectrum Disorder Associate 38287090
Autistic Disorder Associate 38287090
Colorectal Neoplasms Associate 37828426
Developmental Disabilities Associate 38287090
Malaria Associate 16277654, 29690995
Malaria Cerebral Associate 29690995
Metabolic Syndrome Associate 14960587
Muscular Atrophy Spinal Associate 33148303
Propionic Acidemia Associate 14960587, 20725044