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Category   Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21
GIFtS

MCCC2 Gene

protein-coding   GIFtS: 66
GCID: GC05P070918

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)
About This Section

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 GC05P066088


(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

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, and among its related super-pathways are Branched-chain amino acid catabolism and Metabolic pathways. GO annotations related to this gene include methylcrotonoyl-CoA carboxylase activity and ATP binding. 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 73), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000005.9  NT_006713.15  NC_018916.2  
Regulatory elements:
   SABiosciences 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 SABiosciences Chromatin IP Primers for MCCC2

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays 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 GC05P070918:  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 UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MAXQB 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., Ontologies according to Gene Ontology Consortium 01 Oct 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
About This Section

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
Subcellular location: Mitochondrion matrix
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:

  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_Q9HCC0

  • 4/8 DME Specific Peptides for MCCC2 (Q9HCC0) (see all 8)
     GSCTAGGAY  TLVTGFARI  GIAKDGAKMV  ISVMGGEQAA 

    MCCC2 Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    MCCC2 Protein Expression
    REFSEQ proteins: NP_071415.1  
    ENSEMBL proteins: 
     ENSP00000423202   ENSP00000343657   ENSP00000420994   ENSP00000425474   ENSP00000327308  
    Reactome Protein details: Q9HCC0
    Human Recombinant Protein Products for MCCC2: 
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    Novus Biologicals MCCC2 Proteins
    Novus Biologicals MCCC2 Lysates
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    Browse Sino Biological Cell Lysates 
    Browse ProSpec Recombinant Proteins
    Cloud-Clone Corp. Proteins for MCCC2 

    Gene Ontology (GO): 3 cellular component terms (GO ID links to tree view):    About this table

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

    MCCC2 for ontologies           About GeneDecksing



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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)
    About This Section
    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,
    bound targets from SABiosciences, miRNA Gene Targets from miRTarBase, shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Sirion Biotech, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, Vector BioLabs, and Sirion Biotech, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene.)
    About This Section

    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 (GO ID links to tree view):    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 - Custom generated mouse model solutions for MCCC2 
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    SwitchGear 3'UTR luciferase reporter plasmidMCCC2 3' UTR sequence
    Inhib. RNA
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    (Pathways according to EMD Millipore, 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 SABiosciences, 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 Oct 2013 via Entrez Gene).
    About This Section

    SuperPaths for MCCC2 About                                                                                                See pathways by source

    SuperPathContained pathways About
    1Branched-chain amino acid catabolism
    Branched-chain amino acid catabolism0.50
    leucine degradation I0.33
    Valine, leucine and isoleucine degradation0.39
    2Metabolism
    Metabolism0.40
    Metabolic pathways0.40
    3Metabolism of vitamins and cofactors
    Metabolism of water-soluble vitamins and cofactors1.00
    Metabolism of vitamins and cofactors1.00
    4Saturated fatty acid biosynthesis
    Biotin transport and metabolism0.30
    5Metabolism of amino acids and derivatives
    Metabolism of amino acids and derivatives

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways


    1 BioSystems Pathway for MCCC2
        leucine degradation I


    5/6        Reactome Pathways for MCCC2 (see all 6)
        Metabolism
    Biotin transport and metabolism
    Metabolism of vitamins and cofactors
    Metabolism of amino acids and derivatives
    Metabolism of water-soluble vitamins and cofactors


    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

    Interactions:

        Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for MCCC2

    STRING Interaction Network Preview (showing 5 interactants - click image to see 17)

    5/275 Interacting proteins for MCCC2 (Q9HCC02, 3 ENSP000003436574) via UniProtKB, MINT, STRING, and/or I2D (see all 275)

    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): 5/8 biological process terms (GO ID links to tree view) (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 HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
    About This Section
    Browse Small Molecules at EMD Millipore
    Browse drugs & compounds from Enzo Life Sciences

    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

    Search CenterWatch for drugs/clinical trials and news about MCCC2 / MCCB

    (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,
    Conferences by KenesGroup, exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    RNAi Products from EMD Millipore,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
    Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Sirion Biotech, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section

    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
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    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 

    24/164 AceView cDNA sequences (see all 164):

    BU508876 BG178390 AW418507 BU633929 AA258094 AW341014 BF095588 AI949987 
    BC065027 BG108042 BQ232884 BU633402 AA732366 C00869 AW148750 BG698749 
    BI258727 BU753871 BG200281 BF796139 AF310971 BF968693 AW194161 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™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

    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


    See MCCC2 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for MCCC2

    SOURCE GeneReport for Unigene cluster: Hs.604789
        SABiosciences Expression via Pathway-Focused PCR Array including MCCC2: 
              Amino Acid Metabolism I in human mouse rat

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

    (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)
    About This Section

    This gene was present in the common ancestor of eukaryotes.

    Orthologs for MCCC2 gene from 9/23 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_424967.3  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_144467.11  NP_652724.11 
    worm
    (Caenorhabditis elegans)
    Secernentea F02A9.4a3
    F02A9.41
    Propionyl-CoA carboxylase3
    Protein F02A9.41
    65(a)3
    62.67(n)1
    65.73(a)1
      III(9158848-9161099)3
    1762851  NM_066612.31  NP_499013.11 
    thale cress
    (Arabidopsis thaliana)
    eudicotyledons MCCB1 methylcrotonoyl-CoA carboxylase beta chain 58.72(n)
    60.65(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)
    About This Section
    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) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
    About This Section

    10/1397 SNPs in MCCC2 are shown (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
    ----------
    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--------
    VAR_0127924
    Methylcrotonoyl-CoA carboxylase 2 deficiency (MCC2D)4--see VAR_0127922 E Q 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--------
    VAR_0128004
    Methylcrotonoyl-CoA carboxylase 2 deficiency (MCC2D)4--see VAR_0128002 V M 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
    SABiosciences Cancer Mutation 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, Conferences by KenesGroup, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section
    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

  • 7 diseases for MCCC2:    About MalaCards
    3-methylcrotonyl-coa carboxylase 2 deficiency    mccc2-related 3-methylcrotonyl-coa carboxylase deficiency    3-methylcrotonyl-coa carboxylase deficiency    the organic acidemias: an
    3-methylglutaconic aciduria    organic acidemia    tuberculosis

    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)
    About This Section

    PubMed articles for MCCC2 gene, integrated from 9 sources (see all 41):
    (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. (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. (2012)
    3. Assessment of a polymorphism of SDK1 with hypertensio n in Japanese Individuals. (PubMed id 19851296)1, 4 Oguri M....Yamada Y. (2010)
    4. Genetic variants in nuclear-encoded mitochondrial gen es influence AIDS progression. (PubMed id 20877624)1, 4 Hendrickson S.L....O'Brien S.J. (2010)
    5. Association of genetic variants with hemorrhagic stro ke in Japanese individuals. (PubMed id 20198315)1, 4 Yoshida T....Yamada Y. (2010)
    6. Expression, purification, characterization of human 3-methylcrotonyl- CoA carboxylase (MCCC). (PubMed id 17360195)1, 2 Chu C.H. and Cheng D. (2007)
    7. Mitochondrial targeting signals and mature peptides of 3-methylcrotonyl-CoA carboxylase. (PubMed id 16023992)1, 2 Stadler S.C....Holzinger A. (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. (2004)
    9. The molecular basis of 3-methylcrotonylglycinuria, a disorder of leucine catabolism. (PubMed id 11170888)1, 2 Gallardo M.E.... Penalva M.A. (2001)
    10. The molecular basis of human 3-methylcrotonyl-CoA carboxylase deficiency. (PubMed id 11181649)1, 2 Baumgartner M.R.... Valle D. (2001)

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     ANDOR
    Aliases
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      Query String
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      (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)
    About This Section
    Entrez Gene: 64087 HGNC: 6937 AceView: MCCC2 Ensembl:ENSG00000131844 euGenes: HUgn64087
    ECgene: MCCC2 Kegg: 64087 H-InvDB: MCCC2

    (According to HUGE)
    About This Section
      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
    Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
    About This Section
    NameDescription
    PharmGKB entry for MCCC2 Pharmacogenomics, SNPs, Pathways
    GeneReviewshttp://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/MCCC2

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section
    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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    GeneCards Homepage - Last full update: 23 Oct 2013 - Incrementals: 4 Nov 2013 , 7 Nov 2013 , 23 Jan 2014

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