TDO2

Chr 4

tryptophan 2,3-dioxygenase

Also known as: HYPTRP, TDO, TO, TPH2, TRPO

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]

ResearchGenerating clinical summary…

Primary Disease Associations & Inheritance

UniProtHypertryptophanemia

Clinical highlights

Gene-disease validity (ClinGen)
familial hypertryptophanemia · ARLimitednot for standalone diagnostic reporting
0
Active trials
77
Pubs (1 yr)
P/LP submissions
P/LP missense
1.04
LOEUF
DN
Mechanism· predicted
Some data sources returned errors (1)

omim: Error: OMIM fetch failed: 429

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

Tolerant — LoF & missense variants common in population
LoF Constraint?
1.04LOEUF
pLI 0.000
Z-score 1.40
OE 0.71 (0.491.04)
Tolerant

Highly tolerant — LoF variants common in population

Missense Constraint?
-0.22Z-score
OE missense 1.04 (0.931.17)
210 obs / 201.2 exp
Tolerant

Tolerant to missense variation

Observed / Expected Ratios?
LoF OE?0.71 (0.491.04)
00.351.4
Missense OE?1.04 (0.931.17)
00.61.4
Synonymous OE?1.04
01.21.6
LoF obs/exp: 19 / 26.8Missense obs/exp: 210 / 201.2Syn Z: -0.30

ClinVar Variant Classifications

0 submitted variants in ClinVar

Protein Context — Lollipop Plot

TDO2 · protein map & ClinVar variants

Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.

Clinical Trials

Active and recruiting trials from ClinicalTrials.gov

No active trials found for this gene.

Search ClinicalTrials.gov →