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

OXCT2 Gene

protein-coding   GIFtS: 51
GCID: GC01M040235

3-Oxoacid CoA Transferase 2

  See related disease
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
3-Oxoacid CoA Transferase 21 2     Succinyl-CoA:3-Ketoacid Coenzyme A Transferase 2, Mitochondrial2
Testis-Specific Succinyl-CoA:3-Oxoacid CoA-Transferase2 3     Succinyl-CoA:3-Ketoacid-Coenzyme A Transferase 2, Mitochondrial2
3-Oxoacid CoA-Transferase 2A2 3     Testis-Specific Succinyl CoA:3-Oxoacid CoA-Transferase2
EC 2.8.3.53 8     SCOT-t3
3-Oxoacid-CoA Transferase 2A2     EC 2.8.38
SCOTT2     

External Ids:    HGNC: 186061   Entrez Gene: 640642   Ensembl: ENSG000001987547   OMIM: 6102895   UniProtKB: Q9BYC23   

Export aliases for OXCT2 gene to outside databases

Previous GC identifers: GC01P039898 GC01M039238 GC01M039698 GC01M039648 GC01M039904 GC01M040007 GC01M038353


(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 OXCT2 Gene:
OXCT2 is a testis-specific succinyl-CoA:3-oxoacid CoA transferase (EC 2.8.3.5), which catalyzes the reversible
transfer of CoA from succinyl-CoA to acetoacetate in the first step of ketone body utilization. See also OXCT1
(MIM 601424).(supplied by OMIM, Mar 2008)

GeneCards Summary for OXCT2 Gene: 
OXCT2 (3-oxoacid CoA transferase 2) is a protein-coding gene. Diseases associated with OXCT2 include tuberculosis, and among its related super-pathways are Synthesis and degradation of ketone bodies and Branched-chain amino acid catabolism. GO annotations related to this gene include 3-oxoacid CoA-transferase activity. An important paralog of this gene is OXCT1.

UniProtKB/Swiss-Prot: SCOT2_HUMAN, Q9BYC2
Function: Key enzyme for ketone body catabolism. Transfers the CoA moiety from succinate to acetoacetate.
Formation of the enzyme-CoA intermediate proceeds via an unstable anhydride species formed between the
carboxylate groups of the enzyme and substrate (By similarity)




(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_000001.10  NC_018912.2  NT_032977.9  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the OXCT2 gene promoter:
         HSF1 (long)   RelA   NF-E2 p45   NF-kappaB   Egr-4   HOXA5   c-Myb   NF-kappaB1   NF-E2   
         Other transcription factors

Browse SwitchGear Promoter luciferase reporter plasmids
   Search SABiosciences Chromatin IP Primers for OXCT2

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat OXCT2


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

Entrez Gene cytogenetic band: 1p34   Ensembl cytogenetic band:  1p34.2   HGNC cytogenetic band: 1p34

OXCT2 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
OXCT2 gene location

GeneLoc information about chromosome 1         GeneLoc Exon Structure

GeneLoc location for GC01M040235:  view genomic region     (about GC identifiers)

Start:
40,235,195 bp from pter      End:
40,237,020 bp from pter
Size:
1,826 bases      Orientation:
minus strand

(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: SCOT2_HUMAN, Q9BYC2 (See protein sequence)
Recommended Name: Succinyl-CoA:3-ketoacid coenzyme A transferase 2, mitochondrial precursor  
Size: 517 amino acids; 56140 Da
Subunit: Homodimer (By similarity)
Subcellular location: Mitochondrion
Secondary accessions: B2RBB4 Q5QPK4 Q8NHR1 Q9H1I4

Explore the universe of human proteins at neXtProt for OXCT2: NX_Q9BYC2

Explore proteomics data for OXCT2 at MOPED 

Post-translational modifications:

  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_Q9BYC2

  • 4/15 DME Specific Peptides for OXCT2 (Q9BYC2) (see all 15)
     GDLANWM  DLINAGK  ERIRAGG  KIMEKCT 

    OXCT2 Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    OXCT2 Protein Expression
    REFSEQ proteins: NP_071403.1  
    ENSEMBL proteins: 
     ENSP00000361914  

    Human Recombinant Protein Products for OXCT2: 
    Browse Purified and Recombinant Proteins at EMD Millipore
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    Novus Biologicals OXCT2 Protein
    Novus Biologicals OXCT2 Lysates
    Browse Sino Biological Recombinant Proteins
    Browse Sino Biological Cell Lysates 
    Browse ProSpec Recombinant Proteins
    Cloud-Clone Corp. Proteins for OXCT2 

    Gene Ontology (GO): 2 cellular component terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005739mitochondrion IDA11756565
    GO:0031514motile cilium IDA11756565

    OXCT2 for ontologies           About GeneDecksing



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    Browse Enzo Life Sciences for kits & assays
    Cloud-Clone Corp. ELISAs for OXCT2 
    Cloud-Clone Corp. CLIAs for OXCT2


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    5/6 InterPro protein domains (see all 6):
     IPR012791 3-oxoacid_CoA-transf_B
     IPR004163 CoA_transf_BS
     IPR014388 3-oxoacid_CoA-transferase
     IPR012792 3-oxoacid_CoA-transf_A
     IPR004164 CoA_transf_AS

    Graphical View of Domain Structure for InterPro Entry Q9BYC2

    ProtoNet protein and cluster: Q9BYC2

    1 Blocks protein domain: IPB004164 Coenzyme A transferase 2

    UniProtKB/Swiss-Prot: SCOT2_HUMAN, Q9BYC2
    Similarity: Belongs to the 3-oxoacid CoA-transferase family


    OXCT2 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: SCOT2_HUMAN, Q9BYC2
    Function: Key enzyme for ketone body catabolism. Transfers the CoA moiety from succinate to acetoacetate.
    Formation of the enzyme-CoA intermediate proceeds via an unstable anhydride species formed between the
    carboxylate groups of the enzyme and substrate (By similarity)
    Catalytic activity: Succinyl-CoA + a 3-oxo acid = succinate + a 3-oxoacyl-CoA

         Enzyme Numbers (IUBMB): EC 2.8.3.51 2 EC 2.8.32

         Gene Ontology (GO): 2 molecular function terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:00082603-oxoacid CoA-transferase activity IEA--
    GO:0008410CoA-transferase activity ----
         
    OXCT2 for ontologies           About GeneDecksing


    Animal Models:
       inGenious Targeting Laboratory - Custom generated mouse model solutions for OXCT2 
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    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 OXCT2 About                                                                                                See pathways by source

    SuperPathContained pathways About
    1Ketone body metabolism
    Synthesis and degradation of ketone bodies0.56
    Butanoate metabolism0.31
    2Branched-chain amino acid catabolism
    Valine, leucine and isoleucine degradation0.39

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways



    3         Kegg Pathways  (Kegg details for OXCT2):
        Synthesis and degradation of ketone bodies
    Valine, leucine and isoleucine degradation
    Butanoate metabolism

    UniProtKB/Swiss-Prot: SCOT2_HUMAN, Q9BYC2
    Pathway: Ketone metabolism; succinyl-CoA degradation; acetoacetyl-CoA from succinyl-CoA: step 1/1


    OXCT2 for pathways           About GeneDecksing

    Interactions:

        Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for OXCT2

    STRING Interaction Network Preview (showing 5 interactants - click image to see 12)

    5/12 Interacting proteins for OXCT2 (ENSP000003619144) via UniProtKB, MINT, STRING, and/or I2D (see all 12)

    InteractantInteraction Details
    GeneCardExternal ID(s)
    ACAT1ENSP000002658384STRING: ENSP00000265838
    ACAT2ENSP000003560154STRING: ENSP00000356015
    BDH1ENSP000003509144STRING: ENSP00000350914
    BDH2ENSP000002964244STRING: ENSP00000296424
    HADHENSP000003122884STRING: ENSP00000312288
    About this table

    Gene Ontology (GO): 2 biological process terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0008152metabolic process ----
    GO:0046952ketone body catabolic process IEA--

    OXCT2 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 OXCT2 (SCOT2)

    4 HMDB Compounds for OXCT2    About this table
    CompoundSynonyms CAS #PubMed Ids
    Acetoacetic acid3-Ketobutyrate (see all 9)541-50-4--
    Acetoacetyl-CoA3-acetoacetyl-CoA (see all 9)1420-36-6--
    Succinic acid1,2-Ethanedicarboxylate (see all 11)110-15-6--
    Succinyl-CoACoenzyme A S-(hydrogen succinate) (see all 24)604-98-8--

    1 DrugBank Compound for OXCT2    About this table
    CompoundSynonyms CAS #TypeActionsPubMed Ids
    Succinic acid1,2-Ethanedicarboxylic acid (see all 8)110-15-6target--17139284 17016423

    Search CenterWatch for drugs/clinical trials and news about OXCT2 / SCOT2

    (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 OXCT2 gene: 
    NM_022120.1  

    Unigene Cluster for OXCT2:

    3-oxoacid CoA transferase 2
    Hs.472491  [show with all ESTs]
    Unigene Representative Sequence: AK024440
    1 Ensembl transcript including schematic representation, and UCSC links where relevant:
    ENST00000327582(uc001ceb.1)
    miRNA
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    Inhib. RNA
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    Additional mRNA sequence: 

    AB050193.2 AK024440.1 AK093089.1 AK314586.1 AY013700.1 BC030015.1 BC072388.1 

    3 DOTS entries:

    DT.107641  DT.40295909  DT.92070015 

    24/27 AceView cDNA sequences (see all 27):

    AA687627 BV196560 BV196014 BU507864 BV204238 BE796223 BV196013 AK024440 
    BV196089 BV196558 BV204239 BM800530 BI825953 BQ957658 BV190151 BV196088 
    BC072388 BV196559 AA889705 BM544983 H41231 BI462869 BI825247 BF002303 

    GeneLoc Exon Structure


    (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

    OXCT2 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: CAGCAGGTGG
    OXCT2 Expression
    About this image


    See OXCT2 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for OXCT2

    SOURCE GeneReport for Unigene cluster: Hs.472491

    UniProtKB/Swiss-Prot: SCOT2_HUMAN, Q9BYC2
    Tissue specificity: Testis specific

        SABiosciences Expression via Pathway-Focused PCR Arrays including OXCT2: 
              Fatty Acid Metabolism in human mouse rat
              Amino Acid Metabolism I in human mouse rat

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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)
    About This Section

    This gene was present in the common ancestor of animals.

    Orthologs for OXCT2 gene from 6/12 species (see all 12)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Oxct2b5
    Oxct2a1
    3-oxoacid CoA transferase 2B5
    3-oxoacid CoA transferase 2A1
    78.32(n)1
    75.92(a)1
      4 (57.38 cM)5
    640591  NM_022033.41  NP_071316.11 
     1231162665 
    chicken
    (Gallus gallus)
    Aves OXCT16
    succinyl-CoA:3-ketoacid-coenzyme A transferase 1, ...
    71(a)
    possible ortholog
    Z(13039225-13121429)
    lizard
    (Anolis carolinensis)
    Reptilia --
    Succinyl-CoA:3-ketoacid-coenzyme A transferase
    68(a)
    1 → many
    2(6594740-6669297)
    zebrafish
    (Danio rerio)
    Actinopterygii oxct1a6
    oxct1b6
    3-oxoacid CoA transferase 1b
    66(a)
    65(a)
    many ↔ many
    many ↔ many
    8(32565217-32666958)
    21(19598957-19613763)
    fruit fly
    (Drosophila melanogaster)
    Insecta CG11403 3-oxoacid CoA-transferase 59(a)   62B12   --
    worm
    (Caenorhabditis elegans)
    Secernentea C05C10.33 3-oxoacid CoA-transferase 57(a)   II(9934457-9936798)   --


    ENSEMBL Gene Tree for OXCT2 (if available)
    TreeFam Gene Tree for OXCT2 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for OXCT2 gene
    OXCT12  
    3 SIMAP similar genes for OXCT2 using alignment to 2 protein entries:     SCOT2_HUMAN (see all proteins):
    FLJ00030    OXCT1    OXCT

    OXCT2 for paralogs           About GeneDecksing


    1 Pseudogenes.org Pseudogene for OXCT2
    PGOHUM00000244680


    (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

    3 SNPs in OXCT2 are shown    About this table     
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 1 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    VAR_0591344
    ----see VAR_0591342 E D mis40--------
    VAR_0591354
    ----see VAR_0591352 L R mis40--------
    rs1997077891,2
    --40316353(-) TTACT-/TAATAATA 1 -- us2k10--------

    HapMap Linkage Disequilibrium report for OXCT2 (40235195 - 40237020 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 4 variations for OXCT2:    About this table     
    Variant IDTypeSubtypePubMed ID
    dgv215n71CNV Loss21882294
    dgv15n27CNV Gain19166990
    dgv49e1CNV Complex17122850
    nsv7177OTHER Inversion18451855

    SABiosciences Cancer Mutation PCR Assays
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    (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: 610289    OMIM disorders: --

    2 diseases for OXCT2:    About MalaCards
    tuberculosis    


    OXCT2 for disorders           About GeneDecksing


    Export disorders for OXCT2 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 OXCT2 gene integrated from 9 sources:
    (articles sorted by number of sources associating them with OXCT2)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Cloning and characterization of a human orthologue of testis-specific succinyl CoA:3-oxo acid CoA transferase (Scot-t) cDNA. (PubMed id 11756565)1, 2, 3, 9 Tanaka H.... Nishimune Y. (2002)
    2. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (2004)
    3. Characterization of long cDNA clones from human adult spleen. (PubMed id 11214971)1, 3 Hattori A.... Ohara O. (2000)
    4. Drugs, their targets and the nature and number of dru g targets. (PubMed id 17016423)7 Imming P....Meyer A. (2006)
    5. How many drug targets are there? (PubMed id 17139284)7 Overington J.P....Hopkins A.L. (2006)
    6. The DNA sequence and biological annotation of human chromosome 1. (PubMed id 16710414)2 Gregory S.G.... Bentley D.R. (2006)
    7. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)1 Gerhard D.S....Malek J. (2004)
    8. Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. (PubMed id 12477932)1 Strausberg R.L....Marra M.A. (2002)
    9. Dimeric pig heart succinate-coenzyme A transferase uses only one subunit to support catalysis. (PubMed id 11327867)1 Lloyd A.J. and Shoolingin-Jordan P.M. (2001)
    10. Isolation and characterization of a haploid germ cell-specific novel complementary deoxyribonucleic acid; testis-specific homologue of succinyl CoA:3-Oxo acid CoA transferase. (PubMed id 11090426)9 Koga M....Nishimune Y. (2000)

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    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section
    Entrez Gene: 64064 HGNC: 18606 AceView: OXCT2P Ensembl:ENSG00000198754 euGenes: HUgn64064
    ECgene: OXCT2 Kegg: 64064 H-InvDB: OXCT2

    (According to HUGE)
    About This Section
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    (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 OXCT2 Pharmacogenomics, SNPs, Pathways

    (Patent information from GeneIP,
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    Patent Information for OXCT2 gene:
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