Human Gene TPH2 (ENST00000333850.4) from GENCODE V44
Description: Homo sapiens tryptophan hydroxylase 2 (TPH2), mRNA. (from RefSeq NM_173353) RefSeq Summary (NM_173353): 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 associated with psychiatric diseases such as bipolar affective disorder and major depression. [provided by RefSeq, Feb 2016]. Sequence Note: This RefSeq record was created from transcript and genomic sequence data because no single transcript was available for the full length of the gene. The extent of this transcript is supported by the mouse ortholog. Gencode Transcript: ENST00000333850.4 Gencode Gene: ENSG00000139287.13 Transcript (Including UTRs) Position: hg38 chr12:71,938,845-72,032,440 Size: 93,596 Total Exon Count: 11 Strand: + Coding Region Position: hg38 chr12:71,938,987-72,031,695 Size: 92,709 Coding Exon Count: 11
ID:TPH2_HUMAN DESCRIPTION: RecName: Full=Tryptophan 5-hydroxylase 2; EC=1.14.16.4; AltName: Full=Neuronal tryptophan hydroxylase; AltName: Full=Tryptophan 5-monooxygenase 2; CATALYTIC ACTIVITY: L-tryptophan + tetrahydrobiopterin + O(2) = 5- hydroxy-L-tryptophan + 4a-hydroxytetrahydrobiopterin. COFACTOR: Fe(2+) ion (By similarity). BIOPHYSICOCHEMICAL PROPERTIES: Kinetic parameters: KM=41.3 uM for L-tryptophan; Vmax=833 nmol/min/mg enzyme; PATHWAY: Aromatic compound metabolism; serotonin biosynthesis; serotonin from L-tryptophan: step 1/2. TISSUE SPECIFICITY: Brain specific. RNA EDITING: Modified_positions=433, 441, 468; Note=Modulates the kinetic properties of both isoforms. DISEASE: Genetic variation in TPH2 may influence susceptibility to major depressive disorder (MDD) [MIM:608516]. DISEASE: Defects in TPH2 are the cause of susceptibility to attention deficit-hyperactivity disorder type 7 (ADHD7) [MIM:613003]. ADHD is a neurobehavioral developmental disorder and is primarily characterized by the co-existence of attentional problems and hyperactivity, with each behavior occurring infrequently alone. Note=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. SIMILARITY: Belongs to the biopterin-dependent aromatic amino acid hydroxylase family. SIMILARITY: Contains 1 ACT domain. WEB RESOURCE: Name=GeneReviews; URL="http://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/TPH2";
The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.
ModBase Predicted Comparative 3D Structure on Q8IWU9
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Orthologous Genes in Other Species
Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
Gene Ontology (GO) Annotations with Structured Vocabulary
Molecular Function: GO:0004497 monooxygenase activity GO:0004510 tryptophan 5-monooxygenase activity GO:0005506 iron ion binding GO:0016491 oxidoreductase activity 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 GO:0046872 metal ion binding
Biological Process: GO:0007623 circadian rhythm GO:0009072 aromatic amino acid family metabolic process GO:0014823 response to activity GO:0031667 response to nutrient levels GO:0042427 serotonin biosynthetic process GO:0043627 response to estrogen GO:0051384 response to glucocorticoid GO:0051592 response to calcium ion GO:0055114 oxidation-reduction process GO:0071285 cellular response to lithium ion
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