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MCCC2 Gene

protein-coding   GIFtS: 67
GCID: GC05P070883

Methylcrotonoyl-CoA Carboxylase 2 (Beta)

(Previous name: methylcrotonoyl-Coenzyme A carboxylase 2 (beta))
  See related diseases
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
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Aliases
Methylcrotonoyl-CoA Carboxylase 2 (Beta)1 2     MCCase Subunit Beta2 3
MCCB2 3 5     EC 6.4.1.43 8
Methylcrotonoyl-Coenzyme A Carboxylase 2 (Beta)1 2     Biotin Carboxylase2
3-Methylcrotonyl-CoA Carboxylase 22 3     Methylcrotonoyl-CoA Carboxylase Beta Chain, Mitochondrial2
3-Methylcrotonyl-CoA Carboxylase Non-Biotin-Containing Subunit2 3     Non-Biotin Containing Subunit Of 3-Methylcrotonyl-CoA Carboxylase2
3-Methylcrotonyl-CoA:Carbon Dioxide Ligase Subunit Beta2 3     

External Ids:    HGNC: 69371   Entrez Gene: 640872   Ensembl: ENSG000001318447   OMIM: 6090145   UniProtKB: Q9HCC03   

Export aliases for MCCC2 gene to outside databases

Previous GC identifers: GC05P069689 GC05P071116 GC05P070921 GC05P070967 GC05P070918 GC05P066088


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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Entrez Gene summary for MCCC2 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. (provided
by RefSeq, Jul 2008)

GeneCards Summary for MCCC2 Gene:
MCCC2 (methylcrotonoyl-CoA carboxylase 2 (beta)) is a protein-coding gene. Diseases associated with MCCC2 include 3-methylcrotonyl-coa carboxylase 2 deficiency, and mccc2-related 3-methylcrotonyl-coa carboxylase deficiency. GO annotations related to this gene include methylcrotonoyl-CoA carboxylase activity. An important paralog of this gene is PCCB.

UniProtKB/Swiss-Prot: MCCB_HUMAN, Q9HCC0
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




(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence:
NC_000005.10  NT_034772.7  NC_018916.2  NT_187651.1  
Regulatory elements:
   Regulatory transcription factor binding sites in the MCCC2 gene promoter:
         TBP   USF1   p53   Gfi-1   MEF-2A   TFIID   USF-1   aMEF-2   NF-Y   CBF(2)   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidMCCC2 promoter sequence
   Search Chromatin IP Primers for MCCC2

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat MCCC2


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 5q12-q13   Ensembl cytogenetic band:  5q13.2   HGNC cytogenetic band: 5q12-q13

MCCC2 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
MCCC2 gene location

GeneLoc information about chromosome 5         GeneLoc Exon Structure

GeneLoc location for GC05P070883:  view genomic region     (about GC identifiers)

Start:
70,883,115 bp from pter      End:
70,954,531 bp from pter
Size:
71,417 bases      Orientation:
plus strand

1 alternative location:
Chr5+,NW_003315917.2 1,585,773-1,610,592     

(According to 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, Cloud-Clone Corp, and/or others.)
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UniProtKB/Swiss-Prot: MCCB_HUMAN, Q9HCC0 (See protein sequence)
Recommended Name: Methylcrotonoyl-CoA carboxylase beta chain, mitochondrial precursor  
Size: 563 amino acids; 61333 Da
Subunit: Probably a dodecamer composed of six biotin-containing alpha subunits (MCCC1) and six beta (MCCC2)
subunits
Sequence caution: Sequence=AAH14897.1; Type=Frameshift; Positions=359;
Secondary accessions: A6NIY9 Q96C27 Q9Y4L7
Alternative splicing: 2 isoforms:  Q9HCC0-1   Q9HCC0-2   (No experimental confirmation available)

Explore the universe of human proteins at neXtProt for MCCC2: NX_Q9HCC0

Explore proteomics data for MCCC2 at MOPED

Post-translational modifications: 

  • Modification sites at neXtProt
  • Modification sites at PhosphoSitePlus
  • Selected DME Specific Peptides for MCCC2 (Q9HCC0) (see all 8)
     GSCTAGGAY  TLVTGFARI  GIAKDGAKMV  ISVMGGEQAA 


    See MCCC2 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins: NP_071415.1  
    ENSEMBL proteins: 
     ENSP00000423202   ENSP00000343657   ENSP00000420994   ENSP00000425474   ENSP00000327308  
    Reactome Protein details: Q9HCC0

    MCCC2 Human Recombinant Protein Products:

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    Novus Biologicals MCCC2 Proteins
    Novus Biologicals MCCC2 Lysates
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    Browse Sino Biological Cell Lysates
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    Cloud-Clone Corp. Proteins for MCCC2

    MCCC2 Antibody Products:

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    MCCC2 Assay Products:

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    Cloud-Clone Corp. CLIAs for MCCC2


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    3 InterPro protein domains:
     IPR011762 COA_CT_N
     IPR000022 Carboxyl_trans
     IPR011763 COA_CT_C

    Graphical View of Domain Structure for InterPro Entry Q9HCC0

    ProtoNet protein and cluster: Q9HCC0

    1 Blocks protein domain: IPB000022 Carboxyl transferase family

    UniProtKB/Swiss-Prot: MCCB_HUMAN, Q9HCC0
    Similarity: Belongs to the AccD/PCCB family
    Similarity: Contains 1 carboxyltransferase domain


    MCCC2 for domains           About GeneDecksing


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
    transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Molecular Function:

         UniProtKB/Swiss-Prot Summary: MCCB_HUMAN, Q9HCC0
    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
    Catalytic activity: ATP + 3-methylcrotonoyl-CoA + HCO(3)(-) = ADP + phosphate + 3-methylglutaconyl-CoA
    Biophysicochemical properties: Kinetic parameters: KM=45 uM for ATP; KM=74 uM for 3-methylcrotonyl-CoA; Note=kcat
    is 4.0 sec(-1);

         Enzyme Number (IUBMB): EC 6.4.1.41 2

         Gene Ontology (GO): 4 molecular function terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0004485methylcrotonoyl-CoA carboxylase activity NAS11170888
    GO:0005515protein binding IPI17360195
    GO:0005524ATP binding IEA--
    GO:0016874ligase activity ----
         
    MCCC2 for ontologies           About GeneDecksing


    Phenotypes:
         3 GenomeRNAi human phenotypes for MCCC2:
     Decreased melanin production  Increased G1 DNA content  Increased gamma-H2AX phosphory 

    Animal Models:
       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for MCCC2
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       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for MCCC2
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for MCCC2

    miRNA
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    miRTarBase miRNAs that target MCCC2:
    hsa-mir-769-5p (MIRT039205), hsa-mir-193b-3p (MIRT016273)

    Block miRNA regulation of human, mouse, rat MCCC2 using miScript Target Protectors
    Selected qRT-PCR Assays for microRNAs that regulate MCCC2 (see all 23):
    hsa-miR-502-5p hsa-miR-548k hsa-miR-4263 hsa-miR-570 hsa-miR-4275 hsa-miR-3167 hsa-miR-548a-3p hsa-miR-3658
    SwitchGear 3'UTR luciferase reporter plasmidMCCC2 3' UTR sequence
    Inhib. RNA
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    OriGene RNAi products in human, mouse, rat for MCCC2
    Predesigned siRNA for gene silencing in human, mouse, rat MCCC2

    Gene Editing
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    Clone
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    GenScript: all cDNA clones in your preferred vector: MCCC2 (NM_022132)
    Sino Biological Human cDNA Clone for MCCC2
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for MCCC2
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat MCCC2

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    In Situ Assay
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for MCCC2


    (According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Subcellular locations from UniProtKB/Swiss-Prot
    MCCB_HUMAN, Q9HCC0: Mitochondrion matrix
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    mitochondrion5
    extracellular1
    peroxisome1
    plasma membrane1

    Gene Ontology (GO): 3 cellular component terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005739mitochondrion NAS11181649
    GO:0005759mitochondrial matrix TAS--
    GO:0005829cytosol TAS--

    MCCC2 for ontologies           About GeneDecksing


    (SuperPaths according to PathCards, Pathways according to R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to QIAGEN, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene).
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    SuperPaths for MCCC2 About   (see all 6)  
    See pathways by source

    SuperPathSelected contained pathways About (see all per SuperPath)
    1Metabolism
    Metabolism0.38
    Metabolic pathways0.38
    2Defective BTD causes biotidinase deficiency
    Defective BTD causes biotidinase deficiency1.00
    Metabolism of vitamins and cofactors1.00
    Defective AMN causes hereditary megaloblastic anemia 11.00
    Defective MMACHC causes methylmalonic aciduria and homocystinuria type cblC1.00
    Defective MMAA causes methylmalonic aciduria type cblA1.00
    Defective MUT causes methylmalonic aciduria mut type1.00
    Defective CD320 causes methylmalonic aciduria1.00
    Defects in cobalamin (B12) metabolism1.00
    3Metabolism of amino acids and derivatives
    Metabolism of amino acids and derivatives
    Branched-chain amino acid catabolism0.00
    4Valine, leucine and isoleucine degradation
    Valine, leucine and isoleucine degradation0.31
    5leucine degradation I
    leucine degradation I

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways


    1 BioSystems Pathway for MCCC2
        leucine degradation I


    3 Reactome Pathways for MCCC2
        Defective HLCS causes multiple carboxylase deficiency
    Biotin transport and metabolism
    Branched-chain amino acid catabolism


    2 Kegg Pathways  (Kegg details for MCCC2):
        Valine, leucine and isoleucine degradation
    Metabolic pathways

    UniProtKB/Swiss-Prot: MCCB_HUMAN, Q9HCC0
    Pathway: Amino-acid degradation; L-leucine degradation; (S)-3-hydroxy-3-methylglutaryl-CoA from 3-isovaleryl-CoA:
    step 2/3


    MCCC2 for pathways           About GeneDecksing

        Pathway & Disease-focused RT2 Profiler PCR Array including MCCC2: 

              Amino Acid Metabolism I in human mouse rat

    Interactions:

        Search GeneGlobe Interaction Network for MCCC2

    STRING Interaction Network Preview (showing 5 interactants - click image to see 25)

    Selected Interacting proteins for MCCC2 (Q9HCC02, 3 ENSP000003436574) via UniProtKB, MINT, STRING, and/or I2D (see all 285)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    ICT1Q141972, 3, ENSP000003015854MINT-8079030 I2D: score=1 STRING: ENSP00000301585
    TERF1P542743, ENSP000002766034I2D: score=1 STRING: ENSP00000276603
    TERF2Q155543, ENSP000002549424I2D: score=1 STRING: ENSP00000254942
    UBASH3BQ8TF423, ENSP000002842734I2D: score=1 STRING: ENSP00000284273
    HADHAP409392, ENSP000003700234MINT-8079030 STRING: ENSP00000370023
    About this table

    Gene Ontology (GO): Selected biological process terms (see all 8):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006552leucine catabolic process TAS11170888
    GO:0006766vitamin metabolic process TAS--
    GO:0006767water-soluble vitamin metabolic process TAS--
    GO:0006768biotin metabolic process TAS--
    GO:0009083branched-chain amino acid catabolic process TAS--

    MCCC2 for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
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    Browse Small Molecules at EMD Millipore
       Browse drugs & compounds from Enzo Life Sciences
      Browse compounds at ApexBio 

    Browse Tocris compounds for MCCC2 (MCCB)

    8 HMDB Compounds for MCCC2    About this table
    CompoundSynonyms CAS #PubMed Ids
    (E)-2-Methylglutaconic acid(E)-2-Methylglutaconate (see all 5)53358-21-77059658
    3-Methylcrotonyl-CoA3-Methylbut-2-enoyl-CoA (see all 14)793193-48-3--
    3-Methylglutaconyl-CoA3-Methylglutaconyl-CoA (see all 4)6247-73-0--
    ADPadenosindiphosphorsaeure (see all 8)58-64-0--
    Adenosine triphosphate5'-(tetrahydrogen triphosphate) Adenosine (see all 24)56-65-5--
    Biotin(+)-Biotin (see all 42)58-85-5--
    Ceramide (d18:1/16:0)(2S,3R,4E)-2-acylamino-1,3-octadec-4-enediol (see all 6)104404-17-3--
    PhosphateNFB Orthophosphate (see all 13)14265-44-2--

    1 DrugBank Compound for MCCC2    About this table
    CompoundSynonyms CAS #TypeActionsPubMed Ids
    Biotin(+)-cis-Hexahydro-2-oxo-1H-thieno[3,4]imidazole-4-valeric acid (see all 7)58-85-5target--17659996 17254330 17266990 16707089



    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
    Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, and/or QIAGEN )
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    REFSEQ mRNAs for MCCC2 gene: 
    NM_022132.4  

    Unigene Cluster for MCCC2:

    Methylcrotonoyl-CoA carboxylase 2 (beta)
    Hs.604789  [show with all ESTs]
    Unigene Representative Sequence: NM_022132
    9 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000512218 ENST00000340941(uc003kbs.4 uc003kbt.4) ENST00000509358(uc010iyv.1)
    ENST00000507169 ENST00000505787 ENST00000510895(uc003kbu.1) ENST00000505435
    ENST00000509539 ENST00000323375
    miRNA
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    Selected qRT-PCR Assays for microRNAs that regulate MCCC2 (see all 23):
    hsa-miR-502-5p hsa-miR-548k hsa-miR-4263 hsa-miR-570 hsa-miR-4275 hsa-miR-3167 hsa-miR-548a-3p hsa-miR-3658
    SwitchGear 3'UTR luciferase reporter plasmidMCCC2 3' UTR sequence
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      QuantiFast Probe-based Assays in human, mouse, rat MCCC2

    Additional mRNA sequence: 

    AB050049.1 AF261884.1 AF301000.1 AF310971.1 AK025591.1 AK090834.1 AK094987.1 AK310194.1 
    AL079298.1 BC065027.1 Z70695.1 

    14 DOTS entries:

    DT.311066  DT.95275505  DT.100022824  DT.97774414  DT.91774223  DT.99939129  DT.99942106  DT.100757365 
    DT.120831092  DT.95275501  DT.95346126  DT.91774229  DT.99949510  DT.99975298 

    Selected AceView cDNA sequences (see all 164):

    BU508876 BG698749 BU633929 AW341014 BC065027 AI949987 BF095588 BG108042 
    BU633402 AA732366 C00869 AW148750 BQ232884 AW418507 BG178390 AA258094 
    AF261884 BG478671 BF197303 CB055228 AK094987 BI258727 BI770158 AL523555 

    GeneLoc Exon Structure

    5 Alternative Splicing Database (ASD) splice patterns (SP) for MCCC2    About this scheme

    ExUns: 1a · 1b ^ 2a · 2b ^ 3 ^ 4 ^ 5a · 5b ^ 6 ^ 7 ^ 8 ^ 9a · 9b ^ 10a · 10b ^ 11a · 11b · 11c ^ 12a · 12b ^ 13 ^ 14 ^ 15 ^ 16 ^ 17
    SP1:              -                             -                                         -           -     -     -                                       
    SP2:              -                             -           -                             -                 -                                             
    SP3:                                            -                                                                                                         
    SP4:                                                                                                                                                      
    SP5:                                                                                      -                                                               


    ECgene alternative splicing isoforms for MCCC2

    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

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    MCCC2 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: GCTTCACTCG
    MCCC2 Expression
    About this image


    MCCC2 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 7) fully expand
     
     Trophoblast (Extraembryonic Tissues)
             Trophoblast Cells Trophoblast
     
     Ovary (Reproductive System)
             Oviduct
     
     Testis (Reproductive System)
             Leydig Cells Testis Interstitium
     
     Liver (Hepatobiliary System)
             Hepatocytes Liver Lobule
     
     Brain (Nervous System)
             Lateral Ventricle
    MCCC2 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    MCCC2 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.604789
        Pathway & Disease-focused RT2 Profiler PCR Array including MCCC2: 
              Amino Acid Metabolism I in human mouse rat

    Primer
    Products:
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    Pre-validated RT2 qPCR Primer Assay in human, mouse, rat MCCC2
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    In Situ
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    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
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    This gene was present in the common ancestor of eukaryotes.

    Orthologs for MCCC2 gene from Selected species (see all 23)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Mccc21 , 5 methylcrotonoyl-Coenzyme A carboxylase 2 (beta)1, 5 83.96(n)1
    88.81(a)1
      13 (52.90 cM)5
    780381  NM_030026.21  NP_084302.11 
     999485335 
    chicken
    (Gallus gallus)
    Aves MCCC21 methylcrotonoyl-CoA carboxylase 2 (beta) 78.99(n)
    84.34(a)
      427395  XM_424967.4  XP_424967.3 
    lizard
    (Anolis carolinensis)
    Reptilia MCCC26
    methylcrotonoyl-CoA carboxylase 2 (beta)
    81(a)
    1 ↔ 1
    2(16763345-16807874)
    African clawed frog
    (Xenopus laevis)
    Amphibia Xl.154632 Xenopus laevis transcribed sequence with moderate similarity more 77.54(n)    AW641112.1 
    zebrafish
    (Danio rerio)
    Actinopterygii Dr.285472 Transcribed sequence with moderate similarity to protein more 76.45(n)    CF266311.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta CG32671 , 3 CoA carboxylase3
    CG32671
    69(a)3
    62.31(n)1
    70.9(a)1
      2 42C73
    592611  NM_144467.21  NP_652724.11 
    worm
    (Caenorhabditis elegans)
    Secernentea F02A9.4a3
    F02A9.41
    Propionyl-CoA carboxylase3
    F02A9.41
    65(a)3
    62.8(n)1
    65.73(a)1
      III(9158848-9161099)3
    1762851  NM_066612.41  NP_499013.11 
    thale cress
    (Arabidopsis thaliana)
    eudicotyledons MCCB1 MCCB 58.13(n)
    59.79(a)
      829549  NM_119564.4  NP_567950.1 
    rice
    (Oryza sativa)
    Liliopsida Os.273612 Oryza sativa (japonica cultivar-group) cDNA clone0 more 72.11(n)    AK060716.1 


    ENSEMBL Gene Tree for MCCC2 (if available)
    TreeFam Gene Tree for MCCC2 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for MCCC2 gene
    PCCB2  
    2 SIMAP similar genes for MCCC2 using alignment to 4 protein entries:     MCCB_HUMAN (see all proteins):
    DKFZp451E113    PCCB

    MCCC2 for paralogs           About GeneDecksing



    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
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    Selected SNPs for MCCC2 (see all 1397)    About this table    
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 5 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1191032261,2,,4
    CMethylcrotonoyl-CoA carboxylase 2 deficiency (MCC2D)4 pathogenic171223892(+) TGGATG/TATCAT 2 D Y mis10--------
    VAR_0127934
    Methylcrotonoyl-CoA carboxylase 2 deficiency (MCC2D)4--see VAR_0127932 R Q mis40--------
    VAR_0127974
    Methylcrotonoyl-CoA carboxylase 2 deficiency (MCC2D)4--see VAR_0127972 A T mis40--------
    VAR_0127954
    Methylcrotonoyl-CoA carboxylase 2 deficiency (MCC2D)4--see VAR_0127952 S L mis40--------
    VAR_0128014
    Methylcrotonoyl-CoA carboxylase 2 deficiency (MCC2D)4--see VAR_0128012 I V mis40--------
    VAR_0127984
    Methylcrotonoyl-CoA carboxylase 2 deficiency (MCC2D)4--see VAR_0127982 R T mis40--------
    rs289348831,2,4
    Methylcrotonoyl-CoA carboxylase 2 deficiency (MCC2D)4--see VAR_0127922 mis40--------
    VAR_0127964
    Methylcrotonoyl-CoA carboxylase 2 deficiency (MCC2D)4--see VAR_0127962 R C mis40--------
    VAR_0672004
    Methylcrotonoyl-CoA carboxylase 2 deficiency (MCC2D)4--see VAR_0672002 P S mis40--------
    VAR_0127994
    Methylcrotonoyl-CoA carboxylase 2 deficiency (MCC2D)4--see VAR_0127992 P R mis40--------

    HapMap Linkage Disequilibrium report for MCCC2 (70883115 - 70954531 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 2 variations for MCCC2:    About this table    
    Variant IDTypeSubtypePubMed ID
    nsv830340CNV Loss17160897
    nsv328811CNV Loss16902084

    Human Gene Mutation Database (HGMD): MCCC2
    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing MCCC2
    DNA2.0 Custom Variant and Variant Library Synthesis for MCCC2

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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    OMIM gene information: 609014   
    OMIM disorders: 210210  
    UniProtKB/Swiss-Prot: MCCB_HUMAN, Q9HCC0
  • Methylcrotonoyl-CoA carboxylase 2 deficiency (MCC2D) [MIM:210210]: An autosomal recessive disorder of
    leucine catabolism. The phenotype is variable, ranging from neonatal onset with severe neurological involvement
    to asymptomatic adults. There is a characteristic organic aciduria with massive excretion of 3-hydroxyisovaleric
    acid and 3-methylcrotonylglycine, usually in combination with a severe secondary carnitine deficiency. Note=The
    disease is caused by mutations affecting the gene represented in this entry

  • 12 diseases for MCCC2:    
    About MalaCards
    3-methylcrotonyl-coa carboxylase 2 deficiency    mccc2-related 3-methylcrotonyl-coa carboxylase deficiency    3 methylcrotonyl-coa carboxylase 1 deficiency    3-methylcrotonyl-coa carboxylase deficiency
    organic acidemia    the organic acidemias: an    3-methylglutaconic aciduria    tuberculosis
    hypertension    multiple myeloma    myeloma    malaria

    1 disease from the University of Copenhagen DISEASES database for MCCC2:
    3-Methylcrotonyl-CoA carboxylase deficiency

    MCCC2 for disorders           About GeneDecksing

    Genetic Association Database (GAD): MCCC2
    Human Genome Epidemiology (HuGE) Navigator: MCCC2 (3 documents)

    Export disorders for MCCC2 gene to outside databases

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
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    PubMed articles for MCCC2 gene, integrated from 10 sources (see all 42):
    (articles sorted by number of sources associating them with MCCC2)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Cloning of the human MCCA and MCCB genes and mutations therein reveal the molecular cause of 3-methylcrotonyl-CoA: carboxylase deficiency. (PubMed id 11406611)1, 2, 9 Holzinger A....Roscher A.A. (Hum. Mol. Genet. 2001)
    2. Mutational spectrum in eight Korean patients with 3-methylcrotonyl- CoA carboxylase deficiency. (PubMed id 22150417)1, 2 Cho S.Y.... Jin D.K. (Clin. Genet. 2012)
    3. Assessment of a polymorphism of SDK1 with hypertension in Japanese Individuals. (PubMed id 19851296)1, 4 Oguri M....Yamada Y. (Am. J. Hypertens. 2010)
    4. Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression. (PubMed id 20877624)1, 4 Hendrickson S.L....O'Brien S.J. (PLoS ONE 2010)
    5. Association of genetic variants with hemorrhagic stroke in Japanese individuals. (PubMed id 20198315)1, 4 Yoshida T....Yamada Y. (Int. J. Mol. Med. 2010)
    6. Expression, purification, characterization of human 3-methylcrotonyl- CoA carboxylase (MCCC). (PubMed id 17360195)1, 2 Chu C.H. and Cheng D. (Protein Expr. Purif. 2007)
    7. Mitochondrial targeting signals and mature peptides of 3- methylcrotonyl-CoA carboxylase. (PubMed id 16023992)1, 2 Stadler S.C.... Holzinger A. (Biochem. Biophys. Res. Commun. 2005)
    8. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)1, 2 Gerhard D.S.... Malek J. (Genome Res. 2004)
    9. The molecular basis of 3-methylcrotonylglycinuria, a disorder of leucine catabolism. (PubMed id 11170888)1, 2 Gallardo M.E.... Penalva M.A. (Am. J. Hum. Genet. 2001)
    10. The molecular basis of human 3-methylcrotonyl-CoA carboxylase deficiency. (PubMed id 11181649)1, 2 Baumgartner M.R.... Valle D. (J. Clin. Invest. 2001)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     ANDOR
    Aliases
    Free Text  

      Query String
    PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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    Entrez Gene: 64087 HGNC: 6937 AceView: MCCC2 Ensembl:ENSG00000131844 euGenes: HUgn64087
    ECgene: MCCC2 Kegg: 64087 H-InvDB: MCCC2

    (According to HUGE)
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      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
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    NameDescription
    PharmGKB entry for MCCC2 Pharmacogenomics, SNPs, Pathways
    GeneReviewshttp://www.ncbi.nlm.nih.gov/books/NBK1116/?term=MCCC2[genesymbol]

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
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    Patent Information for MCCC2 gene:
    Search GeneIP for patents involving MCCC2

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



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