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 categorized as Causal (Pathogenic/Likely Pathogenic) or Unknown.
829
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
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
RCV001390486
RCV001386774
RCV001385246
RCV001388010
RCV001420154
RCV001783635
RCV001782422
RCV002028002
RCV001990333
RCV001986574
RCV001946682
RCV002003115
RCV002003162
RCV001954556
RCV001898703
RCV002011249
RCV002007634
RCV002006612
RCV001971695
RCV002031040
RCV002031053
RCV002027785
RCV002031069
RCV002031082
RCV001941553
RCV002044282
RCV002050980
RCV002006480
RCV001882224
RCV000001996
RCV000001997
RCV000001998
RCV000001999
RCV000002000
RCV000002001
RCV000002002
RCV000002003
RCV000002004
RCV000002005
RCV003096363
RCV001384042
RCV003060779
RCV003093746
RCV003079060
RCV003078049
RCV001852125
RCV002624342
RCV002640731
RCV002640732
RCV003121443
RCV002662587
RCV002649877
RCV002685993
RCV001378263
RCV001248667
RCV000415228
RCV000525215
RCV001235788
RCV002715609
RCV002765693
RCV002880554
RCV002962073
RCV003018458
RCV003059079
RCV003600449
RCV001833370
RCV001228980
RCV003470070
RCV003470071
RCV003461841
RCV003470073
RCV003470074
RCV003461842
RCV003461843
RCV003470076
RCV003470077
RCV003470078
RCV003470079
RCV003470080
RCV003470081
RCV003476463
RCV003470082
RCV003470083
RCV003470084
RCV003470085
RCV003470086
RCV003461844
RCV003470087
RCV003470088
RCV003470089
RCV003470090
RCV003476464
RCV003498849
RCV003498236
RCV003499030
RCV003499938
RCV003499360
RCV003498676
RCV003601418
RCV003601628
RCV003602094
RCV003602453
RCV003599892
RCV003599901
RCV003600102
RCV003600128
RCV003860084
RCV003988729
RCV003990282
RCV004574828
RCV004574829
RCV004574830
RCV004574831
RCV004574832
RCV004574833
RCV004574834
RCV004574835
RCV004574836
RCV004574837
RCV004574838
RCV005091204
RCV000533421
RCV000556717
RCV000550314
RCV000532761
RCV001066211
RCV000644023
RCV000686151
RCV000697287
RCV000707096
RCV001220292
RCV000700140
RCV000691743
RCV002535156
RCV000804187
RCV000805067
RCV000794342
RCV000794997
RCV001044034
RCV001221718
RCV001211692
RCV001210072
RCV001207251
RCV001203492
RCV001237425
RCV001231606
RCV001253022
RCV001262588
Autism spectrum disorder Likely pathogenic; Pathogenic rs119103221 RCV003313912
MCCC2-related disorder Likely pathogenic; Pathogenic rs150591260, rs757052602, rs2530858195, rs148773718, rs760881963, rs751970792, rs277995 RCV003407683
RCV004751353
RCV003412441
RCV003915571
RCV004751926
RCV004751665
RCV003928278
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
RCV005430912
RCV004689401
RCV005417410
RCV002283366
RCV005433194
RCV004700980
RCV002282018
RCV001271403
RCV001271404
RCV003155781
RCV003388500
RCV003226322
RCV001271399
RCV002222578
RCV006268946
RCV005418309
RCV001824869
RCV001271415
RCV003987709
RCV004782680
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Colon adenocarcinoma - rs1746865964 RCV005930191
Familial cancer of breast Benign; Likely benign; Uncertain significance rs77085070, rs2242372, rs56007073, rs781483923 RCV005911389
RCV005911390
RCV005902153
RCV005913957
Gastric cancer Conflicting classifications of pathogenicity rs115328026 RCV005898824
Ovarian serous cystadenocarcinoma Conflicting classifications of pathogenicity rs115328026 RCV005898825
Associations from Text MiningDisease associations identified through Pubtator
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