TPH2 tryptophan hydroxylase 2
Gene ID: 121278, updated on 10-Oct-2024Gene type: protein coding
Also known as: NTPH; ADHD7
- See all available tests in GTR for this gene
- Go to complete Gene record for TPH2
- Go to Variation Viewer for TPH2 variants
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 associated with psychiatric diseases such as bipolar affective disorder and major depression. [provided by RefSeq, Feb 2016]
Associated conditions
See all available tests in GTR for this gene
| Description | Tests |
|---|---|
| Attention deficit-hyperactivity disorder, susceptibility to, 7 | See labs |
| Genome-wide search for gene-gene interactions in colorectal cancer. GeneReviews: Not available | |
| Major depressive disorder | See labs |
| Tryptophan 5-monooxygenase deficiency MedGen: CN120491GeneReviews: Not available | not available |
Genomic context
- Location:
- 12q21.1
- Sequence:
- Chromosome: 12; NC_000012.12 (71938845..72032440)
- Total number of exons:
- 13
Variation
| Resource | Links for this gene |
|---|---|
| ClinVar | Variants reported to ClinVar |
| dbVar | Studies and variants |
| SNP | Variation Viewer for TPH2 variants |
| Genome viewer | Explore NCBI-annotated and select non-NCBI annotated genome assemblies |
- ClinVarRelated medical variations
- dbVarLink from Gene to dbVar
- MedGenRelated information in MedGen
- OMIMLink to related OMIM entry
- PubMed (OMIM)Gene links to PubMed derived from omim_pubmed_cited links
- RefSeq RNAsLink to Nucleotide RefSeq RNAs
- RefSeqGeneLink to Nucleotide RefSeqGenes
- TPH2 database
- Variation ViewerRelated Variants
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