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25 sources retrieved · Most recent: April 2026 · Index updated 14 days ago
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TPH2
tryptophan hydroxylase 2
Chromosome 12 · 12q21.1
NCBI Gene: 121278Ensembl: ENSG00000139287.13HGNC: HGNC:20692UniProt: Q8IWU9
294PubMed Papers
22Diseases
3Drugs
0Pathogenic Variants
RESEARCH IMPACT
Trending
CLINICAL
FDA Approved TargetOMIM Disease Gene
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
tryptophan 5-monooxygenase activityneuron projectioncytosolmonooxygenase activityattention deficit hyperactivity disordercarcinoid syndromeneuroendocrine neoplasmmajor depressive disorder
✦AI Summary

TPH2 (tryptophan hydroxylase 2) is the rate-limiting enzyme responsible for synthesizing serotonin (5-HT) in the central nervous system, catalyzing the conversion of tryptophan to 5-hydroxytryptophan 1. Unlike TPH1 (expressed in gut enterochromaffin cells), TPH2 is primarily expressed in neurons of the brain stem raphe nuclei and enteric nervous system neurons 2. TPH2 regulates multiple critical functions including mood, sleep, anxiety, and gastrointestinal motility through central serotonergic signaling 2. Notably, TPH2 acts as a master regulator upstream of oxytocin in mammalian social behaviors, with elimination of Tph2 reducing maternal affiliation in mice, rats, and monkeys 3. TPH2 dysfunction is clinically significant in psychiatric and gastrointestinal disorders. Mutations like R441H/R439H cause 60-80% reductions in central serotonin, resulting in depression-like behaviors and gastrointestinal dysmotility 4. Genetic variants (rs4570625, rs4760820, rs11178998) show associations with major depressive disorder and bipolar disorder 56. Therapeutic approaches targeting TPH2 expression, including gut microbiota-mediated upregulation via Roseburia and 5-HTP supplementation, ameliorate both depression and associated gastrointestinal dysfunction 748.

Sources cited
1
TPH2 catalyzes conversion of tryptophan to 5-HTP as the rate-limiting step in serotonin and melatonin biosynthesis
PMID: 33375373
2
TPH2 is primarily expressed in brain stem raphe nuclei neurons and enteric nervous system; rate-limiting enzyme for serotonin synthesis
PMID: 32479926
3
TPH2 elimination reduces maternal affiliation in mice, rats, and monkeys; serotonin acts upstream of oxytocin in social behaviors
PMID: 36868221
4
TPH2-R439H mutation causes 60-80% decrease in central serotonin and results in depression-like behaviors and gastrointestinal dysmotility
PMID: 31071306
5
TPH2 SNP rs4570625 shows association with major depressive disorder
PMID: 22693556
6
TPH2 SNPs rs4760820 and rs11178998 show genetic association with bipolar disorder
PMID: 26365518
7
Roseburia intestinalis upregulates TPH2 expression to increase brain and colon 5-HT levels and ameliorate depression-like behaviors
PMID: 37386523
8
TPH2/5-HT pathway mediates effects on depression and gastrointestinal dysfunction; TPH2 is potential therapeutic target
PMID: 37716030
Disease Associationsⓘ22
attention deficit hyperactivity disorderOpen Targets
0.49Moderate
carcinoid syndromeOpen Targets
0.49Moderate
neuroendocrine neoplasmOpen Targets
0.45Moderate
major depressive disorderOpen Targets
0.44Moderate
carcinoid tumorOpen Targets
0.37Weak
DiarrheaOpen Targets
0.37Weak
neurodegenerative diseaseOpen Targets
0.33Weak
thrombophiliaOpen Targets
0.32Weak
psoriatic arthritisOpen Targets
0.32Weak
ankylosing spondylitisOpen Targets
0.26Weak
tryptophan 5-monooxygenase deficiencyOpen Targets
0.19Weak
liver diseaseOpen Targets
0.13Weak
obesityOpen Targets
0.08Suggestive
systemic lupus erythematosusOpen Targets
0.07Suggestive
pancreatic carcinomaOpen Targets
0.07Suggestive
ulcerative colitisOpen Targets
0.07Suggestive
autismOpen Targets
0.07Suggestive
AnxietyOpen Targets
0.07Suggestive
strokeOpen Targets
0.07Suggestive
Alzheimer diseaseOpen Targets
0.06Suggestive
Attention deficit-hyperactivity disorder 7UniProt
Major depressive disorderUniProt
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar ↗
Drug Targets3
TELOTRISTATPhase III
Tryptophan 5-hydroxylase inhibitor
carcinoid syndrome
TELOTRISTAT ETHYLApproved
Tryptophan 5-hydroxylase inhibitor
carcinoid syndrome
TELOTRISTAT ETIPRATEApproved
Tryptophan 5-hydroxylase inhibitor
Diarrhea
Related Genes
HPDLShared pathway100%DHFR2Protein interaction99%YWHAZProtein interaction97%DDCProtein interaction96%HGDProtein interaction96%HTR1BProtein interaction96%
Tissue Expression6 tissues
Brain
100%
Liver
34%
Ovary
19%
Lung
15%
Bone Marrow
0%
Heart
0%
Gene Interaction Network
Click a node to explore
TPH2HPDLDHFR2YWHAZDDCHGDHTR1B
PROTEIN STRUCTURE
Preparing viewer…
PDB4V06 · 2.63 Å · X-ray
View on RCSB ↗
Constraintⓘ
LOEUFⓘ
0.55Moderately Constrained
pLIⓘ
0.72Intermediate
Observed/Expected LoF0.38 [0.27–0.55]
RankingsWhere TPH2 stands among ~20K protein-coding genes
  • #1,206of 20,598
    Most Researched294 · top 10%
  • #536of 1,025
    FDA-Approved Drug Targets2
  • #3,497of 17,882
    Most Constrained (LOEUF)0.55 · top quartile
Genes detectedTPH2
Sources retrieved25 papers
Response time—
📄 Sources
25▼
1
Microbiome and tryptophan metabolomics analysis in adolescent depression: roles of the gut microbiota in the regulation of tryptophan-derived neurotransmitters and behaviors in human and mice.
PMID: 37386523
Microbiome · 2023
1.00
2
5-Hydroxytryptophan (5-HTP): Natural Occurrence, Analysis, Biosynthesis, Biotechnology, Physiology and Toxicology.
PMID: 33375373
Int J Mol Sci · 2020
0.90
3
The ever-changing roles of serotonin.
PMID: 32479926
Int J Biochem Cell Biol · 2020
0.80
4
Genetic Insights into the Molecular Pathophysiology of Depression in Parkinson's Disease.
PMID: 37374342
Medicina (Kaunas) · 2023
0.72
5
TPH2 gene polymorphisms and bipolar disorder: A meta-analysis.
PMID: 26365518
Am J Med Genet B Neuropsychiatr Genet · 2016
0.70