TPH2 Gene Summary [Human]
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]
Details
| Type | Protein Coding |
| Official Symbol | TPH2 |
| Official Name | tryptophan hydroxylase 2 [Source:HGNC Symbol;Acc:HGNC:20692] |
| Ensembl ID | ENSG00000139287 |
| Bio databases IDs | |
| Aliases | tryptophan hydroxylase 2, tryptophan 5-monooxygenase |
| Synonyms | ADHD7, AU043594, NTPH, Tryptophan hydroxylase 2 |
| Species | Human, Homo sapiens |
| Orthologies |
Protein Domains
A protein domain is a distinct structural or functional region within a protein that can evolve, function, and exist independently of the rest of the protein chain. These domains in human TPH2 often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- arom_aa_hydroxylase
- tryptophan 5-monooxygenase, tetrameric
- tyrosine 3-monooxygenase, tetrameric
- phenylalanine-4-hydroxylase, tetrameric form
- enzyme
- tryptophan 5-monooxygenase
- ACT domain
- Biopterin-dependent aromatic amino acid hydroxylase
Pathways
Biological processes and signaling networks where the TPH2 gene in human plays a role, providing insight into its function and relevance in health or disease.
Top Findings
The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
- weight gain
- starvation
- metabolic syndrome X
- mechanical hyperalgesia
- major affective disorder type 1
- major depression
- phenylketonuria
- tetrahydrobiopterin deficiency
- peripartum depression
- dermatological disorder
role in cell
- quantity
- activation
- density
- abnormal morphology
Subcellular Expression
Locations within the cell where the protein is known or predicted to be active, providing insight into its function and cellular context.
- Plasma Membrane
- cytosol
- neurites
- perikaryon
- axons
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human TPH2 gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- serotonin biosynthetic process
- aromatic amino acid family metabolic process
Cellular Component
Where in the cell the gene product is active
- cytosol
- neuron projection
Molecular Function
What the gene product does at the molecular level
- iron ion binding
- tryptophan 5-monooxygenase activity