The protein encoded by this gene catalyzes the transfer of a CoA group from succinate to acetoacetate and is an important enzyme in ketone body catabolism. The encoded protein localizes to the mitochondrion. This gene is intronless, and a pseudogene of this gene is located elsewhere on chromosome 1. [provided by RefSeq, Aug 2016] See more...

Aliases for OXCT2 Gene

Aliases for OXCT2 Gene

  • 3-Oxoacid CoA-Transferase 2 2 3 5
  • Succinyl-CoA:3-Ketoacid Coenzyme A Transferase 2, Mitochondrial 3 4
  • 3-Oxoacid CoA-Transferase 2A 3 4
  • EC 2.8.3.5 4 51
  • FKSG25 2 3
  • SCOT-T 2 4
  • Testis-Specific Succinyl CoA:3-Oxoacid CoA-Transferase 3
  • Testis-Specific Succinyl-CoA:3-Oxoacid CoA-Transferase 4
  • FLJ00030 2
  • EC 2.8.3 51
  • SCOTT 3
  • OXCT2 5

External Ids for OXCT2 Gene

Previous GeneCards Identifiers for OXCT2 Gene

  • GC01P039898
  • GC01M039238
  • GC01M039698
  • GC01M039648
  • GC01M039904
  • GC01M040007
  • GC01M040235
  • GC01M038353

Summaries for OXCT2 Gene

Entrez Gene Summary for OXCT2 Gene

  • The protein encoded by this gene catalyzes the transfer of a CoA group from succinate to acetoacetate and is an important enzyme in ketone body catabolism. The encoded protein localizes to the mitochondrion. This gene is intronless, and a pseudogene of this gene is located elsewhere on chromosome 1. [provided by RefSeq, Aug 2016]

GeneCards Summary for OXCT2 Gene

OXCT2 (3-Oxoacid CoA-Transferase 2) is a Protein Coding gene. Among its related pathways are Metabolism and Butanoate metabolism. Gene Ontology (GO) annotations related to this gene include 3-oxoacid CoA-transferase activity and CoA-transferase activity. An important paralog of this gene is OXCT1.

UniProtKB/Swiss-Prot Summary for OXCT2 Gene

  • 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).

Additional gene information for OXCT2 Gene

No data available for CIViC Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for OXCT2 Gene

Genomics for OXCT2 Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for OXCT2 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH01J039769 Promoter 0.7 Ensembl 600.7 +0.6 647 2.2 IKZF2 NBN IKZF1 NR2F1 NRF1 BHLHE40 EZH2 OXCT2 OXCT2P1 piR-35827 BMP8B PPIE
GH01J039788 Promoter/Enhancer 1.6 EPDnew Ensembl ENCODE 17.2 -17.6 -17553 2.6 ZBTB33 HNRNPL IKZF1 BACH1 LARP7 MTA2 ZIC2 RBFOX2 PATZ1 TRIM22 BMP8B LOC101929536 PPIE OXCT2 PPIEL EXO5 RLF OXCT2P1 TRIT1
GH01J039738 Promoter/Enhancer 1.9 EPDnew Ensembl ENCODE CraniofacialAtlas 11.8 +31.9 31947 4.4 ZNF629 PRDM10 RFX1 KDM1A ZNF692 POLR2A ZHX2 GABPA DDX20 RBFOX2 PPIE HSALNG0002801 BMP8B OXCT2 HEYL ENSG00000225903 TRIT1 ENSG00000202222 OXCT2P1 piR-35827
GH01J039572 Promoter/Enhancer 2.2 EPDnew Ensembl ENCODE CraniofacialAtlas dbSUPER 10.4 +196.3 196308 4.9 SP1 CREB1 CTCF HNRNPL PRDM10 REST ZNF629 TFE3 ZNF512 ZNF692 PABPC4 EXO5 OXCT2P1 PPIE PPIEL TRIT1 OXCT2 ENSG00000226438 lnc-HEYL-4 PABPC4-AS1
GH01J039816 Promoter/Enhancer 1.7 FANTOM5 Ensembl ENCODE dbSUPER 8.1 -45.9 -45929 1.9 SP1 CREB1 CTCF ATF7 PRDM10 ZNF629 IKZF1 ZNF692 BACH1 JUND LINC02811 TRIT1 OXCT2 PPIE MACF1 TMCO2 RLF MFSD2A PABPC4 lnc-PPIE-9
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around OXCT2 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for OXCT2

Top Transcription factor binding sites by QIAGEN in the OXCT2 gene promoter:
  • c-Myb
  • Egr-4
  • HOXA5
  • HSF1 (long)
  • NF-E2
  • NF-E2 p45
  • NF-kappaB
  • NF-kappaB1
  • RelA

Genomic Locations for OXCT2 Gene

Genomic Locations for OXCT2 Gene
chr1:39,769,523-39,771,348
(GRCh38/hg38)
Size:
1,826 bases
Orientation:
Minus strand
chr1:40,235,195-40,237,020
(GRCh37/hg19)
Size:
1,826 bases
Orientation:
Minus strand

Genomic View for OXCT2 Gene

Genes around OXCT2 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
OXCT2 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for OXCT2 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for OXCT2 Gene

Proteins for OXCT2 Gene

  • Protein details for OXCT2 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9BYC2-SCOT2_HUMAN
    Recommended name:
    Succinyl-CoA:3-ketoacid coenzyme A transferase 2, mitochondrial
    Protein Accession:
    Q9BYC2
    Secondary Accessions:
    • B2RBB4
    • Q5QPK4
    • Q8NHR1
    • Q9H1I4

    Protein attributes for OXCT2 Gene

    Size:
    517 amino acids
    Molecular mass:
    56140 Da
    Quaternary structure:
    • Homodimer.

neXtProt entry for OXCT2 Gene

Selected DME Specific Peptides for OXCT2 Gene

Q9BYC2:
  • KIMEKCT
  • SARNFNVPMCKAAD
  • SFAMIRG
  • DADLINAGK
  • RAALEFEDGMY
  • GGFGLCGIPE
  • LHSENGILGLGPFP
  • DGMYANLGIGIP
  • GDLANWM
  • ELTPQGTLAERIRAGGAGVPAFYT
  • DLINAGK
  • PREVREF
  • ERIRAGG
  • KGWKADR
  • VKGMGGAMDLV

Post-translational modifications for OXCT2 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for OXCT2 Gene

ENSEMBL proteins:
REFSEQ proteins:

Domains & Families for OXCT2 Gene

Gene Families for OXCT2 Gene

Human Protein Atlas (HPA):
  • Enzymes
  • Predicted intracellular proteins

Suggested Antigen Peptide Sequences for OXCT2 Gene

GenScript: Design optimal peptide antigens:
  • OXCT2 protein (Q6INA3_HUMAN)
  • FLJ00030 protein (Q9H7N8_HUMAN)
  • Testis-specific succinyl-CoA:3-oxoacid CoA-transferase (SCOT2_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q9BYC2

UniProtKB/Swiss-Prot:

SCOT2_HUMAN :
  • Belongs to the 3-oxoacid CoA-transferase family.
Family:
  • Belongs to the 3-oxoacid CoA-transferase family.
genes like me logo Genes that share domains with OXCT2: view

Function for OXCT2 Gene

Molecular function for OXCT2 Gene

UniProtKB/Swiss-Prot 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).
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=a 3-oxo acid + succinyl-CoA = a 3-oxoacyl-CoA + succinate; Xref=Rhea:RHEA:24564, ChEBI:CHEBI:30031, ChEBI:CHEBI:35973, ChEBI:CHEBI:57292, ChEBI:CHEBI:90726; EC=2.8.3.5; Evidence={ECO:0000255|PROSITE-ProRule:PRU10034};.

Enzyme Numbers (IUBMB) for OXCT2 Gene

Phenotypes From GWAS Catalog for OXCT2 Gene

Gene Ontology (GO) - Molecular Function for OXCT2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0008260 3-oxoacid CoA-transferase activity IEA --
GO:0008410 CoA-transferase activity IEA,IBA 21873635
GO:0016740 transferase activity IEA --
genes like me logo Genes that share ontologies with OXCT2: view
genes like me logo Genes that share phenotypes with OXCT2: view

Animal Model Products

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for OXCT2

No data available for Human Phenotype Ontology , Animal Models , miRNA , Transcription Factor Targets and HOMER Transcription for OXCT2 Gene

Localization for OXCT2 Gene

Subcellular locations from UniProtKB/Swiss-Prot for OXCT2 Gene

Mitochondrion.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for OXCT2 gene
Compartment Confidence
mitochondrion 5
cytosol 1

Gene Ontology (GO) - Cellular Components for OXCT2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005739 mitochondrion IDA 11756565
GO:0005759 mitochondrial matrix TAS --
GO:0031514 motile cilium IDA 11756565
genes like me logo Genes that share ontologies with OXCT2: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for OXCT2 Gene

Pathways & Interactions for OXCT2 Gene

genes like me logo Genes that share pathways with OXCT2: view

UniProtKB/Swiss-Prot Q9BYC2-SCOT2_HUMAN

  • Pathway: Ketone metabolism; succinyl-CoA degradation; acetoacetyl-CoA from succinyl-CoA: step 1/1.

Gene Ontology (GO) - Biological Process for OXCT2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0046950 cellular ketone body metabolic process IBA 21873635
GO:0046952 ketone body catabolic process TAS --
genes like me logo Genes that share ontologies with OXCT2: view

No data available for SIGNOR curated interactions for OXCT2 Gene

Drugs & Compounds for OXCT2 Gene

(6) Drugs for OXCT2 Gene - From: ApexBio and HMDB

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Succinic acid Approved Nutra Agonist, Full agonist 0
Acetoacetic acid Experimental Pharma 0
Acetoacetyl-CoA Experimental Pharma 0
Succinyl-CoA Experimental Pharma 0
Lonafarnib Investigational Pharma Ftase inhibitor,potent and selective 36

(2) ApexBio Compounds for OXCT2 Gene

Compound Action Cas Number
LB42708 Selective FTase inhibitor 226929-39-1
Lonafarnib Ftase inhibitor,potent and selective 193275-84-2
genes like me logo Genes that share compounds with OXCT2: view

Drug Products

Transcripts for OXCT2 Gene

mRNA/cDNA for OXCT2 Gene

1 REFSEQ mRNAs :
6 NCBI additional mRNA sequence :
1 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for OXCT2

Alternative Splicing Database (ASD) splice patterns (SP) for OXCT2 Gene

No ASD Table

Relevant External Links for OXCT2 Gene

GeneLoc Exon Structure for
OXCT2

Expression for OXCT2 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for OXCT2 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

  • Testis (Reproductive System)

mRNA differential expression in normal tissues according to GTEx for OXCT2 Gene

This gene is overexpressed in Testis (x29.2).

Protein differential expression in normal tissues from HIPED for OXCT2 Gene

This gene is overexpressed in Brain (47.2) and Heart (21.8).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for OXCT2 Gene



Protein tissue co-expression partners for OXCT2 Gene

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for OXCT2

SOURCE GeneReport for Unigene cluster for OXCT2 Gene:

Hs.472491

mRNA Expression by UniProt/SwissProt for OXCT2 Gene:

Q9BYC2-SCOT2_HUMAN
Tissue specificity: Testis specific.
genes like me logo Genes that share expression patterns with OXCT2: view

No data available for Evidence on tissue expression from TISSUES and Phenotype-based relationships between genes and organs from Gene ORGANizer for OXCT2 Gene

Orthologs for OXCT2 Gene

This gene was present in the common ancestor of animals.

Orthologs for OXCT2 Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
Mammalia OXCT2 30
  • 99.55 (n)
Cow
(Bos Taurus)
Mammalia LOC100297708 30
  • 81.88 (n)
Rat
(Rattus norvegicus)
Mammalia LOC100365119 30
  • 77.28 (n)
Mouse
(Mus musculus)
Mammalia Oxct2a 31
  • 75 (a)
OneToMany
Oxct2b 31
  • 74 (a)
OneToMany
Platypus
(Ornithorhynchus anatinus)
Mammalia -- 31
  • 62 (a)
OneToMany
-- 31
  • 42 (a)
OneToMany
Dog
(Canis familiaris)
Mammalia -- 31
  • 50 (a)
OneToMany
-- 31
  • 50 (a)
OneToMany
Chicken
(Gallus gallus)
Aves OXCT1 31
  • 71 (a)
OneToMany
Lizard
(Anolis carolinensis)
Reptilia -- 31
  • 68 (a)
OneToMany
Zebrafish
(Danio rerio)
Actinopterygii oxct1a 31
  • 67 (a)
ManyToMany
oxct1b 31
  • 64 (a)
ManyToMany
Fruit Fly
(Drosophila melanogaster)
Insecta CG1140 31 32
  • 56 (a)
OneToMany
Worm
(Caenorhabditis elegans)
Secernentea C05C10.3 31 32
  • 54 (a)
OneToMany
Sea Squirt
(Ciona savignyi)
Ascidiacea CSA.1452 31
  • 61 (a)
OneToMany
Species where no ortholog for OXCT2 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • Alpha proteobacteria (Wolbachia pipientis)
  • Amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • Baker's yeast (Saccharomyces cerevisiae)
  • Barley (Hordeum vulgare)
  • Beta proteobacteria (Neisseria meningitidis)
  • Bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • Common water flea (Daphnia pulex)
  • Corn (Zea mays)
  • E. coli (Escherichia coli)
  • Filamentous fungi (Aspergillus nidulans)
  • Firmicute Bacteria (Streptococcus pneumoniae)
  • Fission Yeast (Schizosaccharomyces pombe)
  • Green Algae (Chlamydomonas reinhardtii)
  • Honey Bee (Apis mellifera)
  • K. Lactis Yeast (Kluyveromyces lactis)
  • Loblloly Pine (Pinus taeda)
  • Malaria Parasite (Plasmodium falciparum)
  • Medicago Trunc (Medicago Truncatula)
  • Moss (Physcomitrella patens)
  • Oppossum (Monodelphis domestica)
  • Orangutan (Pongo pygmaeus)
  • Pig (Sus scrofa)
  • Rainbow Trout (Oncorhynchus mykiss)
  • Rice (Oryza sativa)
  • Rice Blast Fungus (Magnaporthe grisea)
  • Schistosome Parasite (Schistosoma mansoni)
  • Sea Anemone (Nematostella vectensis)
  • Sea Vase (Ciona intestinalis)
  • Sea Urchin (Strongylocentrotus purpuratus)
  • Sorghum (Sorghum bicolor)
  • Soybean (Glycine max)
  • Stem Rust Fungus (Puccinia graminis)
  • Sugarcane (Saccharum officinarum)
  • Thale Cress (Arabidopsis thaliana)
  • Tomato (Lycopersicon esculentum)
  • Toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • Tropical Clawed Frog (Silurana tropicalis)
  • Wheat (Triticum aestivum)

Evolution for OXCT2 Gene

ENSEMBL:
Gene Tree for OXCT2 (if available)
TreeFam:
Gene Tree for OXCT2 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for OXCT2: view image

Paralogs for OXCT2 Gene

Paralogs for OXCT2 Gene

(3) SIMAP similar genes for OXCT2 Gene using alignment to 2 proteins:

  • SCOT2_HUMAN
  • Q6INA3_HUMAN

Pseudogenes.org Pseudogenes for OXCT2 Gene

genes like me logo Genes that share paralogs with OXCT2: view

Variants for OXCT2 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for OXCT2 Gene

SNP ID Clinical significance and condition Chr 01 pos Variation AA Info Type
rs230321 - p.Leu285Arg
rs7542609 - p.Glu250Asp

Additional dbSNP identifiers (rs#s) for OXCT2 Gene

Structural Variations from Database of Genomic Variants (DGV) for OXCT2 Gene

Variant ID Type Subtype PubMed ID
dgv152n100 CNV gain 25217958
dgv153n100 CNV gain 25217958
dgv15n27 CNV gain 19166990
esv2758933 CNV loss 17122850
nsv1116447 OTHER inversion 24896259
nsv546063 CNV gain 21841781
nsv7177 OTHER inversion 18451855
nsv945895 CNV duplication 23825009
nsv950654 CNV deletion 24416366

Variation tolerance for OXCT2 Gene

Gene Damage Index Score: 1.51; 29.38% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for OXCT2 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
OXCT2

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for OXCT2 Gene

Disorders for OXCT2 Gene

No disorders were found for OXCT2 Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for OXCT2 Gene

Publications for OXCT2 Gene

  1. Cloning and characterization of a human orthologue of testis-specific succinyl CoA: 3-oxo acid CoA transferase (Scot-t) cDNA. (PMID: 11756565) Tanaka H … Nishimune Y (Molecular human reproduction 2002) 2 3 4 23
  2. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 3 4
  3. Characterization of long cDNA clones from human adult spleen. (PMID: 11214971) Hattori A … Ohara O (DNA research : an international journal for rapid publication of reports on genes and genomes 2000) 2 3
  4. Architecture of the human interactome defines protein communities and disease networks. (PMID: 28514442) Huttlin EL … Harper JW (Nature 2017) 3
  5. Mitochondrial Protein Interaction Mapping Identifies Regulators of Respiratory Chain Function. (PMID: 27499296) Floyd BJ … Pagliarini DJ (Molecular cell 2016) 3

Products for OXCT2 Gene

Sources for OXCT2 Gene