TPH2 (tryptophan hydroxylase 2)

Gene

• Entrez ID: 121278
• Gene name: Tryptophan hydroxylase 2
• Gene symbol: TPH2
• Synonyms: ADHD7, NTPH
• Chromosome: 12
• Chromosome location: 12q21.1
• Summary: This gene encodes a member of the pterin-dependent aromatic acid hydroxylase family. The encoded protein catalyzes the first and rate limiting step in the biosynthesis of serotonin, an important hormone and neurotransmitter. Mutations in this gene may be

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs17110563	C>T	Risk-factor	Coding sequence variant, missense variant, genic downstream transcript variant
rs120074175	G>A	Risk-factor	Coding sequence variant, genic downstream transcript variant, missense variant
rs120074176	C>T	Risk-factor	Coding sequence variant, genic downstream transcript variant, missense variant

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT1449303	hsa-miR-154	CLIP-seq
MIRT1449304	hsa-miR-425	CLIP-seq
MIRT1449305	hsa-miR-642b	CLIP-seq
MIRT2355664	hsa-miR-3685	CLIP-seq
MIRT2355665	hsa-miR-384	CLIP-seq

Transcription factors

Transcription factor	Regulation	Reference
REST	Activation	17613521

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0004510	Function	Tryptophan 5-monooxygenase activity	IBA	21873635
GO:0005506	Function	Iron ion binding	IEA
GO:0005829	Component	Cytosol	TAS
GO:0007623	Process	Circadian rhythm	IEA
GO:0009072	Process	Aromatic amino acid family metabolic process	IEA
GO:0014823	Process	Response to activity	IEA
GO:0031667	Process	Response to nutrient levels	IEA
GO:0042427	Process	Serotonin biosynthetic process	IEA
GO:0043005	Component	Neuron projection	IBA	21873635
GO:0043627	Process	Response to estrogen	IEA
GO:0046219	Process	Indolalkylamine biosynthetic process	TAS
GO:0051384	Process	Response to glucocorticoid	IEA
GO:0051592	Process	Response to calcium ion	IEA
GO:0071285	Process	Cellular response to lithium ion	IEA

Other IDs

• MIM: 607478
• HGNC: 20692
• e!Ensembl: ENSG00000139287

Protein

• UniProt ID: Q8IWU9
• Protein name: Tryptophan 5-hydroxylase 2 (EC 1.14.16.4) (Neuronal tryptophan hydroxylase) (Tryptophan 5-monooxygenase 2)
• PDB: 4V06, 7QRI, 7WIY
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF00351	Biopterin_H	152 → 482	Biopterin-dependent aromatic amino acid hydroxylase	Domain

• Sequence:

  MQPAMMMFSSKYWARRGFSLDSAVPEEHQLLGSSTLNKPNSGKNDDKGNKGSSKREAATE
  SGKTAVVFSLKNEVGGLVKALRLFQEKRVNMVHIESRKSRRRSSEVEIFVDCECGKTEFN
  ELIQLLKFQTTIVTLNPPENIWTEEEELEDVPWFPRKISELDKCSHRVLMYGSELDADHP
  GFKDNVYRQRRKYFVDVAMGYKYGQPIPRVEYTEEETKTWGVVFRELSKLYPTHACREYL
  KNFPLLTKYCGYREDNVPQLEDVSMFLKERSGFTVRPVAGYLSPRDFLAGLAYRVFHCTQ
  YIRHGSDPLYTPEPDTCHELLGHVPLLADPKFAQFSQEIGLASLGASDEDVQKLATCYFF
  TIEFGLCKQEGQLRAYGAGLLSSIGELKHALSDKACVKAFDPKTTCLQECLITTFQEAYF
  VSESFEEAKEKMRDFAKSITRPFSVYFNPYTQSIEILKDTRSIENVVQDLRSDLNTVCDA
  LNKMNQYLGI

• Sequence length: 490

Pathways

KEGG:

Tryptophan metabolism
Folate biosynthesis
Metabolic pathways
Serotonergic synapse

Reactome:

Serotonin and melatonin biosynthesis

Associated diseases

Causal
Disease name	Disease term	dbSNP ID	References
Attention deficit hyperactivity disorder	Attention Deficit Disorder, Attention deficit hyperactivity disorder	rs120074176, rs786205019
Autism	Autistic Disorder	rs121964908, rs121912597, rs2710102, rs7794745, rs142990298, rs62643608, rs181327458, rs797046134, rs869312704, rs1555013332, rs876657679, rs1057518999, rs1057518658, rs771827120, rs1555187899, rs773080572, rs753871454, rs1684130791, rs1684180699, rs1553510219, rs1684182454, rs1559060428, rs1553510677, rs1576352885, rs1574152522, rs1574152672, rs1696658542, rs1751123722, rs1750373491, rs1751075634	15768392
Schizophrenia	Schizophrenia	rs74315508, rs74315509, rs13447324, rs1558507406, rs387906932, rs387906933, rs863223354, rs863223355, rs776061422, rs863223349, rs748809996, rs759748655, rs863223353, rs863223350, rs863223356, rs781821239, rs863223348, rs863223346, rs863223347, rs863223351, rs863223352, rs61734270, rs797045205, rs869312829, rs869312830, rs770913157, rs869312832, rs869312831, rs781720548, rs1262969313	21399903, 25073638

Unknown
Disease name	Disease term	dbSNP ID	References
Bipolar disorder	Bipolar Disorder, Depression, Bipolar		21085052, 21396719, 21438144, 25152196, 24196946, 21492941
Involutional depression	Involutional Depression
Involutional paraphrenia	Involutional paraphrenia
Melancholia	Melancholia		17950541
Mental depression	Mental Depression, Endogenous depression, Depressive disorder, Unipolar Depression, Depressive Syndrome, Depression, Neurotic, Major Depressive Disorder	rs587778876, rs587778877	26057341, 23063133, 25089765, 25214390, 24863038, 17950541, 25089765, 26057341, 23063133, 24863038, 25214390, 17950541, 23467366, 24196946, 24376086, 26057341, 23336047, 17950541, 26057341, 23336047, 24196946, 24376086, 23467366
Minimal brain dysfunction	Minimal Brain Dysfunction
Mood disorder	Mood Disorders		21257271, 21418060, 22649797, 20874521, 24754353
Paranoid schizophrenia	Paranoid Schizophrenia		22392150
Psychosis	Psychotic Disorders, Psychosis, Involutional		25073638, 24491795