TPH2 (tryptophan hydroxylase 2)

Gene Gene information from NCBI Gene database.
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID 121278
Gene name Tryptophan hydroxylase 2
Gene symbol TPH2
Synonyms (NCBI Gene)
ADHD7NTPH
Chromosome 12
Chromosome location 12q21.1
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
SNPs SNP information provided by dbSNP.
3
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all (3)
SNP ID Visualize variation Clinical significance Consequence
rs17110563 C>T Risk-factor Coding sequence variant, missense variant, genic downstream transcript variant
rs120074175 G>A Risk-factor Coding sequence variant, genic downstream transcript variant, missense variant
rs120074176 C>T Risk-factor Coding sequence variant, genic downstream transcript variant, missense variant
miRNA miRNA information provided by mirtarbase database.
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Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
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miRTarBase ID miRNA Experiments Reference
MIRT1449303 hsa-miR-154 CLIP-seq
MIRT1449304 hsa-miR-425 CLIP-seq
MIRT1449305 hsa-miR-642b CLIP-seq
MIRT2355664 hsa-miR-3685 CLIP-seq
MIRT2355665 hsa-miR-384 CLIP-seq
Transcription factors Transcription factors information provided by TRRUST V2 database.
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Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
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Transcription factor Regulation Reference
REST Activation 17613521
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
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Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
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GO ID Ontology Definition Evidence Reference
GO:0004497 Function Monooxygenase activity IEA
GO:0004510 Function Tryptophan 5-monooxygenase activity IBA
GO:0004510 Function Tryptophan 5-monooxygenase activity IDA 37608910
GO:0004510 Function Tryptophan 5-monooxygenase activity IEA
GO:0005506 Function Iron ion binding IEA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
MIM HGNC e!Ensembl
607478 20692 ENSG00000139287
Protein Protein information from UniProt database.
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q8IWU9
Protein name Tryptophan 5-hydroxylase 2 (EC 1.14.16.4) (Neuronal tryptophan hydroxylase) (Tryptophan 5-monooxygenase 2)
PDB 4V06 , 7QRI , 7WIY
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00351 Biopterin_H 152 → 482 Biopterin-dependent aromatic amino acid hydroxylase Domain
Tissue specificity TISSUE SPECIFICITY: Brain specific.
Sequence
Sequence length 490
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
  KEGG  Reactome
  Tryptophan metabolism
Folate biosynthesis
Metabolic pathways
Serotonergic synapse 		  Serotonin and melatonin biosynthesis
Associated diseases Disease associations from ClinVar categorized as Causal (Pathogenic/Likely Pathogenic) or Unknown.
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Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide Unknown Diseases (5)
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Attention deficit-hyperactivity disorder, susceptibility to, 7 Uncertain significance; risk factor; Likely benign rs2887147, rs120074176, rs17110563, rs78162420 RCV001809291
RCV000003313
RCV002476916
RCV002502215
Bipolar affective disorder, susceptibility to Uncertain significance rs17110563 RCV000003314
Major depressive disorder Uncertain significance; Likely benign rs17110563, rs78162420 RCV002476916
RCV002502215
Tryptophan 5-monooxygenase deficiency Uncertain significance; Likely benign; Benign rs17110563, rs78162420, rs369666173, rs376240384, rs149833912, rs17110747, rs537808122, rs540692954, rs187840760, rs886049813, rs886049815, rs7305115, rs886049816, rs886049818, rs377429274
View all (27 more)		 RCV001113238
RCV000334080
RCV000388506
RCV000340895
RCV000390566
RCV000263324
RCV000318422
RCV000283194
RCV000273273
RCV000328325
RCV000375596
RCV000305884
RCV000342014
RCV000370725
RCV000317283
RCV000387456
RCV000280178
RCV000405228
RCV000310138
RCV000274908
RCV000377683
RCV000342787
RCV000293098
RCV000335040
RCV000281187
RCV000364824
RCV000311303
RCV000276177
RCV000371971
RCV001110476
RCV001111232
RCV001111233
RCV001113239
RCV001114602
RCV001114603
RCV001108978
RCV001108979
RCV001108980
RCV001108981
RCV001108982
RCV001114600
RCV001114601
Show/Hide Text Mining Associations (53)
Associations from Text MiningDisease associations identified through Pubtator
Disease Name Relationship Type References
Antisocial Personality Disorder Associate 36094569
Anxiety Associate 17176491, 20451217, 38093326
Anxiety Disorders Associate 19052197
Aphasia Broca Associate 17346350
Attention Deficit and Disruptive Behavior Disorders Associate 27871272
Attention Deficit Disorder with Hyperactivity Associate 16894395, 28630479, 37104367
Bipolar Disorder Associate 17604842, 24136241
Borderline Personality Disorder Associate 20451217
Breast Neoplasms Associate 37789226
Cardiomyopathy Dilated Associate 36472833