• Gene id: 121278

Gene Summary

• Gene Symbol: TPH2   Gene   UCSC   Ensembl
• Aliases: ADHD7, NTPH
• Gene name: tryptophan hydroxylase 2
• Alternate names: tryptophan 5-hydroxylase 2, neuronal tryptophan hydroxylase, tryptophan 5-monooxygenase 2,
• Gene location: 12q21.1 (71938844: 72032439)     Exons: 13     NC_000012.12
• Gene summary(Entrez): 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
• OMIM: 607478

Protein Summary

• Protein general information: Q8IWU9  
  • Name: Tryptophan 5 hydroxylase 2 (EC 1.14.16.4) (Neuronal tryptophan hydroxylase) (Tryptophan 5 monooxygenase 2)
  • Length: 490  
  • Mass: 56057
  • Tissue specificity: Brain specific.
• Sequence:

  MQPAMMMFSSKYWARRGFSLDSAVPEEHQLLGSSTLNKPNSGKNDDKGNKGSSKREAATESGKTAVVFSLKNEVG
  GLVKALRLFQEKRVNMVHIESRKSRRRSSEVEIFVDCECGKTEFNELIQLLKFQTTIVTLNPPENIWTEEEELED
  VPWFPRKISELDKCSHRVLMYGSELDADHPGFKDNVYRQRRKYFVDVAMGYKYGQPIPRVEYTEEETKTWGVVFR
  ELSKLYPTHACREYLKNFPLLTKYCGYREDNVPQLEDVSMFLKERSGFTVRPVAGYLSPRDFLAGLAYRVFHCTQ
  YIRHGSDPLYTPEPDTCHELLGHVPLLADPKFAQFSQEIGLASLGASDEDVQKLATCYFFTIEFGLCKQEGQLRA
  YGAGLLSSIGELKHALSDKACVKAFDPKTTCLQECLITTFQEAYFVSESFEEAKEKMRDFAKSITRPFSVYFNPY
  TQSIEILKDTRSIENVVQDLRSDLNTVCDALNKMNQYLGI

• Structural information:
  • Protein Domains: (65..14-)
    (/note="ACT-)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU01007"-)
  • Interpro: IPR002912  IPR001273  IPR018301  IPR036951  IPR036329   IPR019774  IPR005963  IPR041904  IPR019773  
  • Prosite: PS51671 PS00367 PS51410
  • CDD: cd03346
  • PDB: 4V06
  • PDBsum: 4V06
  • STRING: ENSP00000329093
• Other Databases: GeneCards:  TPH2  Malacards:  TPH2

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0004510	tryptophan 5-monooxygenase activity	IBA	molecular function
GO:0043005	neuron projection	IBA	cellular component
GO:0004497	monooxygenase activity	IEA	molecular function
GO:0004510	tryptophan 5-monooxygenase activity	IEA	molecular function
GO:0005506	iron ion binding	IEA	molecular function
GO:0016714	oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, reduced pteridine as one donor, and incorporation of one atom of oxygen	IEA	molecular function
GO:0055114	oxidation-reduction process	IEA	biological process
GO:0009072	aromatic amino acid family metabolic process	IEA	biological process
GO:0042427	serotonin biosynthetic process	IEA	biological process
GO:0004497	monooxygenase activity	IEA	molecular function
GO:0046872	metal ion binding	IEA	molecular function
GO:0055114	oxidation-reduction process	IEA	biological process
GO:0016491	oxidoreductase activity	IEA	molecular function
GO:0042427	serotonin biosynthetic process	IEA	biological process
GO:0004510	tryptophan 5-monooxygenase activity	IEA	molecular function
GO:0005829	cytosol	TAS	cellular component
GO:0046219	indolalkylamine biosynthetic process	TAS	biological process
GO:0071285	cellular response to lithium ion	IEA	biological process
GO:0051592	response to calcium ion	IEA	biological process
GO:0051384	response to glucocorticoid	IEA	biological process
GO:0043627	response to estrogen	IEA	biological process
GO:0014823	response to activity	IEA	biological process
GO:0043005	neuron projection	IEA	cellular component
GO:0004510	tryptophan 5-monooxygenase activity	IEA	molecular function
GO:0031667	response to nutrient levels	IEA	biological process
GO:0007623	circadian rhythm	IEA	biological process
GO:0042427	serotonin biosynthetic process	IEA	biological process

KEGG pathways

Pathway id	Pathway name
hsa01100	Metabolic pathways
hsa04726	Serotonergic synapse
hsa00380	Tryptophan metabolism
hsa00790	Folate biosynthesis

Diseases

Associated diseases	References
Major depressive disorder	KEGG:H01646
Attention deficit hyperactivity disorder	KEGG:H01895
Major depressive disorder	KEGG:H01646
Attention deficit hyperactivity disorder	KEGG:H01895
autistic disorder	PMID:15768392
Bipolar disorder	PMID:16240163
Panic disorder	PMID:17123728
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			19 (6 controls, 13 cases)	Male infertility	GSE6872 analyzed by GEO2R (cutoff 1.5 fold)