TPH2
entrez
121278
canonical
uniprot
Q8IWU9
canonical
ensembl
ENSG00000139287
resolver
ensp
ENSP00000329093
resolver
genesymbol
TPH2
resolver
genesymbol_syn
NTPH
resolver
hgnc
HGNC:20692
resolver
uniprot
A6NGA4
resolver
uniprot
Q14CB0
resolver
uniprot_entry
TPH2_HUMAN
resolver
uniprot_sec
A6NGA4
resolver
uniprot_sec
Q14CB0
resolver
amino_acid_sequence
MQPAMMMFSSKYWARRGFSLDSAVPEEHQLLGSSTLNKPNSGKNDDKGNKGSSKREAATESGKTAVVFSLKNEVGGLVKALRLFQEKRVNMVHIESRKSRRRSSEVEIFVDCECGKTEFNELIQLLKFQTTIVTLNPPENIWTEEEELEDVPWFPRKISELDKCSHRVLMYGSELDADHPGFKDNVYRQRRKYFVDVAMGYKYGQPIPRVEYTEEETKTWGVVFRELSKLYPTHACREYLKNFPLLTKYCGYREDNVPQLEDVSMFLKERSGFTVRPVAGYLSPRDFLAGLAYRVFHCTQYIRHGSDPLYTPEPDTCHELLGHVPLLADPKFAQFSQEIGLASLGASDEDVQKLATCYFFTIEFGLCKQEGQLRAYGAGLLSSIGELKHALSDKACVKAFDPKTTCLQECLITTFQEAYFVSESFEEAKEKMRDFAKSITRPFSVYFNPYTQSIEILKDTRSIENVVQDLRSDLNTVCDALNKMNQYLGI
uniprot
proteins
disease_involvement
DISEASE: 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. {ECO:0000269|PubMed:15629698}. Note=Disease susceptibility is associated with variants affecting the gene represented in this entry.; DISEASE: 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:0000269|PubMed:18347598}. Note=Disease susceptibility is associated with variants 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.
uniprot
proteins
ec_number
1.14.16.4
uniprot
proteins
function
FUNCTION: Neuron-specific enzyme that catalyzes the conversion of L-tryptophan into 5-hydroxy-L-tryptophan, the rate-limiting step in serotonin production, using Fe(2+) as cofactor and molecular oxygen and tetrahydrobiopterin (BH4) as cosubstrates (PubMed:17905754, PubMed:19319927, PubMed:37608910). Plays a crucial role in regulating mood, anxiety and sleep (By similarity). {ECO:0000250|UniProtKB:Q8CGV2, ECO:0000269|PubMed:17905754, ECO:0000269|PubMed:19319927, ECO:0000269|PubMed:37608910}.
uniprot
proteins
mass_dalton
56057
uniprot
proteins
pathway_participation
PATHWAY: Aromatic compound metabolism; serotonin biosynthesis; serotonin from L-tryptophan: step 1/2.
uniprot
proteins
protein_family
Biopterin-dependent aromatic amino acid hydroxylase family
uniprot
proteins
pubmed
12511643
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
15629698
uniprot
proteins
pubmed
16541075
uniprot
proteins
pubmed
17905754
uniprot
proteins
pubmed
18347598
uniprot
proteins
pubmed
19319927
uniprot
proteins
pubmed
20126463
uniprot
proteins
pubmed
36046836
uniprot
proteins
pubmed
37119821
uniprot
proteins
pubmed
37608910
uniprot
proteins
pubmed
40534674
uniprot
proteins
sequence_length
490
uniprot
proteins