Gene Gene information from NCBI Gene database.
Entrez ID 6999
Gene name Tryptophan 2,3-dioxygenase
Gene symbol TDO2
Synonyms (NCBI Gene)
HYPTRPTDOTOTPH2TRPO
Chromosome 4
Chromosome location 4q32.1
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 ro
SNPs SNP information provided by dbSNP.
2
SNP ID Visualize variation Clinical significance Consequence
rs767123432 ->A Pathogenic Coding sequence variant, frameshift variant
rs1553957997 G>C Pathogenic Coding sequence variant, missense variant
miRNA miRNA information provided by mirtarbase database.
67
miRTarBase ID miRNA Experiments Reference
MIRT2347492 hsa-miR-4272 CLIP-seq
MIRT2347493 hsa-miR-4719 CLIP-seq
MIRT2347494 hsa-miR-4742-3p CLIP-seq
MIRT2347495 hsa-miR-548g CLIP-seq
MIRT2640430 hsa-miR-1245 CLIP-seq
Transcription factors Transcription factors information provided by TRRUST V2 database.
1
Transcription factor Regulation Reference
YY1 Unknown 10580097
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
23
GO ID Ontology Definition Evidence Reference
GO:0004833 Function Tryptophan 2,3-dioxygenase activity IBA
GO:0004833 Function Tryptophan 2,3-dioxygenase activity IDA 27762317, 28285122
GO:0004833 Function Tryptophan 2,3-dioxygenase activity IEA
GO:0004833 Function Tryptophan 2,3-dioxygenase activity TAS 8666386
GO:0005515 Function Protein binding IPI 16189514, 24722188, 25416956, 25910212, 28514442, 31515488, 32296183, 32814053, 33961781
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
191070 11708 ENSG00000151790
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
P48775
Protein name Tryptophan 2,3-dioxygenase (TDO) (EC 1.13.11.11) (Tryptamin 2,3-dioxygenase) (Tryptophan oxygenase) (TO) (TRPO) (Tryptophan pyrrolase) (Tryptophanase)
Protein function Heme-dependent dioxygenase that catalyzes the oxidative cleavage of the L-tryptophan (L-Trp) pyrrole ring and converts L-tryptophan to N-formyl-L-kynurenine. Catalyzes the oxidative cleavage of the indole moiety. {ECO:0000255|HAMAP-Rule:MF_03020
PDB 4PW8 , 5TI9 , 5TIA , 6A4I , 6PYY , 6PYZ , 6UD5 , 6VBN , 7LU7 , 7UI3 , 8QV7 , 8R5Q , 8R5R , 8VTQ , 8VUG , 8VZV , 8W1H , 8W2K , 9AT2 , 9B17 , 9B1Q , 9EZJ
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF03301 Trp_dioxygenase 26 372 Tryptophan 2,3-dioxygenase Family
Sequence
Sequence length 406
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  KEGG  Reactome
  Tryptophan metabolism
Metabolic pathways
Biosynthesis of cofactors
  Tryptophan catabolism
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
12
Evidence Score: ★☆☆☆☆  Gene-disease association found in Text Mining only ★★☆☆☆  Found in Text Mining and Unknown/Other Associations ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Phenotype Name Clinical Significance Source Evidence Score
AUTISTIC DISORDER CTD, Disgenet
CTD, Disgenet
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
BIPOLAR DISORDER Disgenet
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Familial hypertryptophanemia no classifications from unflagged records ClinVar
ClinGen, ClinVar, Disgenet, GWAS catalog
ClinGen, ClinVar, Disgenet, GWAS catalog
★★★☆☆
Reported in Unknown/Other Associations (≥2 sources)
GILLES DE LA TOURETTE SYNDROME Disgenet
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text Mining Disease associations identified through text mining
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Anxiety Anxiety Disorder BEFREE 31753057
★☆☆☆☆
Found in Text Mining only
Anxiety Disorders Anxiety Disorder BEFREE 31753057
★☆☆☆☆
Found in Text Mining only
Arteriosclerosis Arteriosclerosis BEFREE 31637003
★☆☆☆☆
Found in Text Mining only
Atherosclerosis Atherosclerosis BEFREE 31637003
★☆☆☆☆
Found in Text Mining only
Autistic Disorder Autism BEFREE 14755447
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Autistic Disorder Autism LHGDN 14755447
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Autistic Disorder Autism CTD_human_DG 14755447
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Autoimmune Diseases Autoimmune Diseases BEFREE 28117398
★☆☆☆☆
Found in Text Mining only
Behavior Disorders Behavior Disorders BEFREE 2004780, 23558111, 2389798
★☆☆☆☆
Found in Text Mining only
Bipolar Disorder Bipolar Disorder BEFREE 16448631
★★☆☆☆
Found in Text Mining + Unknown/Other Associations