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MCCC2 (methylcrotonoyl-CoA carboxylase 2)

Identity

Alias_namesmethylcrotonoyl-Coenzyme A carboxylase 2 (beta)
Alias_symbol (synonym)MCCB
Other alias
HGNC (Hugo) MCCC2
LocusID (NCBI) 64087
Atlas_Id 68840
Location 5q13.2  [Link to chromosome band 5q13]
Location_base_pair Starts at 71587288 and ends at 71658703 bp from pter ( according to hg38-Dec_2013)
Fusion genes
(updated 2016)
TNPO1 (5q13.2) / MCCC2 (5q13.2)

Note

Non-annotated gene. Preliminary data : if you are an author
who wish to write a full paper/card on this gene, go to  How to contribute

DNA/RNA

 


External links

Nomenclature
HGNC (Hugo)MCCC2   6937
Cards
Entrez_Gene (NCBI)MCCC2  64087  methylcrotonoyl-CoA carboxylase 2
AliasesMCCB
GeneCards (Weizmann)MCCC2
Ensembl hg19 (Hinxton)ENSG00000131844 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000131844 [Gene_View]  chr5:71587288-71658703 [Contig_View]  MCCC2 [Vega]
ICGC DataPortalENSG00000131844
TCGA cBioPortalMCCC2
AceView (NCBI)MCCC2
Genatlas (Paris)MCCC2
WikiGenes64087
SOURCE (Princeton)MCCC2
Genetics Home Reference (NIH)MCCC2
Genomic and cartography
GoldenPath hg38 (UCSC)MCCC2  -     chr5:71587288-71658703 +  5q13.2   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)MCCC2  -     5q13.2   [Description]    (hg19-Feb_2009)
EnsemblMCCC2 - 5q13.2 [CytoView hg19]  MCCC2 - 5q13.2 [CytoView hg38]
Mapping of homologs : NCBIMCCC2 [Mapview hg19]  MCCC2 [Mapview hg38]
OMIM210210   609014   
Gene and transcription
Genbank (Entrez)AB050049 AF261884 AF301000 AF310971 AK025591
RefSeq transcript (Entrez)NM_022132
RefSeq genomic (Entrez)NC_000005 NC_018916 NG_008882 NT_187651 NW_003315917
Consensus coding sequences : CCDS (NCBI)MCCC2
Cluster EST : UnigeneHs.604789 [ NCBI ]
CGAP (NCI)Hs.604789
Alternative Splicing GalleryENSG00000131844
Gene ExpressionMCCC2 [ NCBI-GEO ]   MCCC2 [ EBI - ARRAY_EXPRESS ]   MCCC2 [ SEEK ]   MCCC2 [ MEM ]
Gene Expression Viewer (FireBrowse)MCCC2 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)64087
GTEX Portal (Tissue expression)MCCC2
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ9HCC0   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ9HCC0  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ9HCC0
Splice isoforms : SwissVarQ9HCC0
Catalytic activity : Enzyme6.4.1.4 [ Enzyme-Expasy ]   6.4.1.46.4.1.4 [ IntEnz-EBI ]   6.4.1.4 [ BRENDA ]   6.4.1.4 [ KEGG ]   
PhosPhoSitePlusQ9HCC0
Domaine pattern : Prosite (Expaxy)COA_CT_CTER (PS50989)    COA_CT_NTER (PS50980)   
Domains : Interpro (EBI)Carboxyl_trans    ClpP/crotonase-like_dom    COA_CT_C    COA_CT_N   
Domain families : Pfam (Sanger)Carboxyl_trans (PF01039)   
Domain families : Pfam (NCBI)pfam01039   
Conserved Domain (NCBI)MCCC2
DMDM Disease mutations64087
Blocks (Seattle)MCCC2
SuperfamilyQ9HCC0
Human Protein AtlasENSG00000131844
Peptide AtlasQ9HCC0
HPRD01952
IPIIPI00784044   IPI00789428   IPI00903225   IPI00967844   IPI00967193   
Protein Interaction databases
DIP (DOE-UCLA)Q9HCC0
IntAct (EBI)Q9HCC0
FunCoupENSG00000131844
BioGRIDMCCC2
STRING (EMBL)MCCC2
ZODIACMCCC2
Ontologies - Pathways
QuickGOQ9HCC0
Ontology : AmiGO3-methylcrotonyl-CoA carboxylase complex, mitochondrial  3-methylcrotonyl-CoA carboxylase complex, mitochondrial  methylcrotonoyl-CoA carboxylase activity  methylcrotonoyl-CoA carboxylase activity  protein binding  ATP binding  mitochondrion  mitochondrion  mitochondrial matrix  mitochondrial matrix  cytosol  leucine catabolic process  leucine catabolic process  biotin metabolic process  branched-chain amino acid catabolic process  coenzyme A metabolic process  protein heterooligomerization  methylcrotonoyl-CoA carboxylase complex  
Ontology : EGO-EBI3-methylcrotonyl-CoA carboxylase complex, mitochondrial  3-methylcrotonyl-CoA carboxylase complex, mitochondrial  methylcrotonoyl-CoA carboxylase activity  methylcrotonoyl-CoA carboxylase activity  protein binding  ATP binding  mitochondrion  mitochondrion  mitochondrial matrix  mitochondrial matrix  cytosol  leucine catabolic process  leucine catabolic process  biotin metabolic process  branched-chain amino acid catabolic process  coenzyme A metabolic process  protein heterooligomerization  methylcrotonoyl-CoA carboxylase complex  
Pathways : KEGGValine, leucine and isoleucine degradation   
NDEx NetworkMCCC2
Atlas of Cancer Signalling NetworkMCCC2
Wikipedia pathwaysMCCC2
Orthology - Evolution
OrthoDB64087
GeneTree (enSembl)ENSG00000131844
Phylogenetic Trees/Animal Genes : TreeFamMCCC2
HOVERGENQ9HCC0
HOGENOMQ9HCC0
Homologs : HomoloGeneMCCC2
Homology/Alignments : Family Browser (UCSC)MCCC2
Gene fusions - Rearrangements
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerMCCC2 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)MCCC2
dbVarMCCC2
ClinVarMCCC2
1000_GenomesMCCC2 
Exome Variant ServerMCCC2
ExAC (Exome Aggregation Consortium)MCCC2 (select the gene name)
Genetic variants : HAPMAP64087
Genomic Variants (DGV)MCCC2 [DGVbeta]
DECIPHERMCCC2 [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisMCCC2 
Mutations
ICGC Data PortalMCCC2 
TCGA Data PortalMCCC2 
Broad Tumor PortalMCCC2
OASIS PortalMCCC2 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICMCCC2  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDMCCC2
LOVD (Leiden Open Variation Database)Whole genome datasets
LOVD (Leiden Open Variation Database)LOVD - Leiden Open Variation Database
LOVD (Leiden Open Variation Database)LOVD 3.0 shared installation
LOVD (Leiden Open Variation Database)MSeqDR-LSDB Mitochondrial Disease Locus Specific Database
BioMutasearch MCCC2
DgiDB (Drug Gene Interaction Database)MCCC2
DoCM (Curated mutations)MCCC2 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)MCCC2 (select a term)
intoGenMCCC2
Cancer3DMCCC2(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM210210    609014   
Orphanet3297   
MedgenMCCC2
Genetic Testing Registry MCCC2
NextProtQ9HCC0 [Medical]
TSGene64087
GENETestsMCCC2
Target ValidationMCCC2
Huge Navigator MCCC2 [HugePedia]
snp3D : Map Gene to Disease64087
BioCentury BCIQMCCC2
ClinGenMCCC2
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD64087
Chemical/Pharm GKB GenePA30681
Clinical trialMCCC2
Miscellaneous
canSAR (ICR)MCCC2 (select the gene name)
Probes
Litterature
PubMed44 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineMCCC2
EVEXMCCC2
GoPubMedMCCC2
iHOPMCCC2
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

Search in all EBI   NCBI

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indexed on : Wed May 31 15:25:39 CEST 2017

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