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    TDO2 tryptophan 2,3-dioxygenase [ Homo sapiens (human) ]

    Gene ID: 6999, updated on 5-Mar-2024

    Summary

    Official Symbol
    TDO2provided by HGNC
    Official Full Name
    tryptophan 2,3-dioxygenaseprovided by HGNC
    Primary source
    HGNC:HGNC:11708
    See related
    Ensembl:ENSG00000151790 MIM:191070; AllianceGenome:HGNC:11708
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    TO; TDO; TPH2; TRPO; HYPTRP
    Summary
    This gene encodes a heme enzyme that plays a critical role in tryptophan metabolism by catalyzing the first and rate-limiting step of the kynurenine pathway. Increased activity of the encoded protein and subsequent kynurenine production may also play a role in cancer through the suppression of antitumor immune responses, and single nucleotide polymorphisms in this gene may be associated with autism. [provided by RefSeq, Feb 2012]
    Expression
    Biased expression in liver (RPKM 202.8) and appendix (RPKM 14.2) See more
    Orthologs
    NEW
    Try the new Gene table
    Try the new Transcript table

    Genomic context

    Location:
    4q32.1
    Exon count:
    12
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 4 NC_000004.12 (155903696..155920406)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 4 NC_060928.1 (159236403..159253174)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 4 NC_000004.11 (156824848..156841558)

    Chromosome 4 - NC_000004.12Genomic Context describing neighboring genes Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 15769 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 15770 Neighboring gene guanylate cyclase 1 soluble subunit beta 1 Neighboring gene acid sensing ion channel subunit family member 5 Neighboring gene uncharacterized LOC105377507 Neighboring gene cathepsin O Neighboring gene Sharpr-MPRA regulatory region 9973 Neighboring gene ferritin heavy chain 1 pseudogene 21

    Genomic regions, transcripts, and products

    Expression

    • Project title: HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Apr 4 07:08:55 2018

    Bibliography

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Phenotypes

    Associated conditions

    Description Tests
    Familial hypertryptophanemia
    MedGen: C2931837 OMIM: 600627 GeneReviews: Not available
    not available

    EBI GWAS Catalog

    Description
    An atlas of genetic influences on human blood metabolites.
    EBI GWAS Catalog
    First genome-wide association scan on neurophysiological endophenotypes points to trans-regulation effects on SLC2A3 in dyslexic children.
    EBI GWAS Catalog

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables amino acid binding IEA
    Inferred from Electronic Annotation
    more info
     
    enables heme binding IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    enables heme binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables identical protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    enables metal ion binding IEA
    Inferred from Electronic Annotation
    more info
     
    enables oxygen binding IEA
    Inferred from Electronic Annotation
    more info
     
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    enables tryptophan 2,3-dioxygenase activity IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    enables tryptophan 2,3-dioxygenase activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    Process Evidence Code Pubs
    involved_in protein homotetramerization IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in response to nitroglycerin IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in tryptophan catabolic process to acetyl-CoA IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in tryptophan catabolic process to kynurenine IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in tryptophan catabolic process to kynurenine IEA
    Inferred from Electronic Annotation
    more info
     
    Component Evidence Code Pubs
    located_in cytosol TAS
    Traceable Author Statement
    more info
     

    General protein information

    Preferred Names
    tryptophan 2,3-dioxygenase
    Names
    tryptamin 2,3-dioxygenase
    tryptophan oxygenase
    tryptophan pyrrolase
    tryptophanase
    NP_005642.1

    NCBI Reference Sequences (RefSeq)

    NEW Try the new Transcript table

    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    mRNA and Protein(s)

    1. NM_005651.4NP_005642.1  tryptophan 2,3-dioxygenase

      See identical proteins and their annotated locations for NP_005642.1

      Status: REVIEWED

      Source sequence(s)
      AA705255, U32989
      Consensus CDS
      CCDS34086.1
      UniProtKB/Swiss-Prot
      A8K053, P48775
      Related
      ENSP00000444788.2, ENST00000536354.3
      Conserved Domains (1) summary
      pfam03301
      Location:26372
      Trp_dioxygenase; Tryptophan 2,3-dioxygenase

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000004.12 Reference GRCh38.p14 Primary Assembly

      Range
      155903696..155920406
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Reference GRCh38.p14 ALT_REF_LOCI_1

    Genomic

    1. NW_003315914.1 Reference GRCh38.p14 ALT_REF_LOCI_1

      Range
      68319..85029
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060928.1 Alternate T2T-CHM13v2.0

      Range
      159236403..159253174
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)