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

Gene ID: 6999, updated on 21-Dec-2019

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
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

Genomic context

See TDO2 in Genome Data Viewer
Location:
4q32.1
Exon count:
12
Annotation release Status Assembly Chr Location
109.20191205 current GRCh38.p13 (GCF_000001405.39) 4 NC_000004.12 (155903696..155920406)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 4 NC_000004.11 (156824845..156841558)

Chromosome 4 - NC_000004.12Genomic Context describing neighboring genes 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 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
Hypertryptophanemia, familial
MedGen: C2931837 OMIM: 600627 GeneReviews: Not available
not available

NHGRI GWAS Catalog

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

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Gene Ontology Provided by GOA

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

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
    P48775
    Related
    ENSP00000444788.2, ENST00000536354.3
    Conserved Domains (1) summary
    pfam03301
    Location:26372
    Trp_dioxygenase; Tryptophan 2,3-dioxygenase

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20191205

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000004.12 Reference GRCh38.p13 Primary Assembly

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

Reference GRCh38.p13 ALT_REF_LOCI_1

Genomic

  1. NW_003315914.1 Reference GRCh38.p13 ALT_REF_LOCI_1

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