Homo sapiens Protein: TPH2
Summary
InnateDB Protein IDBP-48340.6
Last Modified 2014-10-13 [Report errors or provide feedback]
Gene Symbol TPH2
Protein Name tryptophan hydroxylase 2
Synonyms
Species Homo sapiens
Ensembl Protein ENSP00000329093
InnateDB Gene IDBG-48338 (TPH2)
Protein Structure
UniProt Annotation
Function
Subcellular Localization
Disease Associations Major depressive disorder (MDD) [MIM:608516]: A common psychiatric disorder. It is a complex trait characterized by one or more major depressive episodes without a history of manic, mixed, or hypomanic episodes. A major depressive episode is characterized by at least 2 weeks during which there is a new onset or clear worsening of either depressed mood or loss of interest or pleasure in nearly all activities. Four additional symptoms must also be present including changes in appetite, weight, sleep, and psychomotor activity; decreased energy; feelings of worthlessness or guilt; difficulty thinking, concentrating, or making decisions; or recurrent thoughts of death or suicidal ideation, plans, or attempts. The episode must be accompanied by distress or impairment in social, occupational, or other important areas of functioning. Note=Disease susceptibility is associated with variations affecting the gene represented in this entry.Attention deficit-hyperactivity disorder 7 (ADHD7) [MIM:613003]: A neurobehavioral developmental disorder primarily characterized by the coexistence of attentional problems and hyperactivity, with each behavior occurring infrequently alone. {ECO:0000269PubMed:18347598}. Note=Disease susceptibility is associated with variations affecting the gene represented in this entry. Naturally occurring variants of TPH2 with impaired enzyme activity could cause deficiency of serotonin production and result in an increased risk of developing behavioral disorders.
Tissue Specificity Brain specific.
Comments
Interactions
Number of Interactions This gene and/or its encoded proteins are associated with 2 experimentally validated interaction(s) in this database.
Experimentally validated
Total 2 [view]
Protein-Protein 2 [view]
Protein-DNA 0
Protein-RNA 0
DNA-DNA 0
RNA-RNA 0
DNA-RNA 0
Gene Ontology

Molecular Function
Accession GO Term
GO:0004510 tryptophan 5-monooxygenase activity
GO:0005506 iron ion binding
GO:0016597 amino acid binding
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
Biological Process
GO:0007623 circadian rhythm
GO:0008152 metabolic process
GO:0009072 aromatic amino acid family metabolic process
GO:0014823 response to activity
GO:0031667 response to nutrient levels
GO:0034641 cellular nitrogen compound metabolic process
GO:0042427 serotonin biosynthetic process
GO:0043627 response to estrogen
GO:0044281 small molecule metabolic process
GO:0046219 indolalkylamine biosynthetic process
GO:0051384 response to glucocorticoid
GO:0051592 response to calcium ion
GO:0055114 oxidation-reduction process
GO:0071285 cellular response to lithium ion
Cellular Component
GO:0005829 cytosol
GO:0043005 neuron projection
Protein Structure and Domains
PDB ID
InterPro IPR002912 ACT domain
IPR005963 Tryptophan 5-monooxygenase
IPR019773 Tyrosine 3-monooxygenase-like
IPR019774 Aromatic amino acid hydroxylase, C-terminal
PFAM PF01842
PF00351
PRINTS PR00372
PIRSF PIRSF000336
SMART
TIGRFAMs
Post-translational Modifications
Modification
Cross-References
SwissProt Q8IWU9
PhosphoSite PhosphoSite-Q8IWU9
TrEMBL Q14CC5
UniProt Splice Variant
Entrez Gene 121278
UniGene Hs.736576
RefSeq NP_775489
HUGO HGNC:20692
OMIM 607478
CCDS CCDS31859
HPRD 09594
IMGT
EMBL AC090109 AY098914 BC114442 BC114499 EU796679 EU796684 EU796689 EU796694 EU796699 EU796704 EU796709 EU796714 EU796719 EU796724 EU796729
GenPept AAI14443 AAI14500 AAM28946 ACE96053 ACE96058 ACE96063 ACE96068 ACE96073 ACE96078 ACE96083 ACE96088 ACE96093 ACE96098 ACE96103