Gene Gene information from NCBI Gene database.
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
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.
5
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.
1
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.
13
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.
MIM HGNC e!Ensembl
607478 20692 ENSG00000139287
Protein Protein information from UniProt database.
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.
  KEGG  Reactome
  Tryptophan metabolism
Folate biosynthesis
Metabolic pathways
Serotonergic synapse
  Serotonin and melatonin biosynthesis
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
24
Evidence Score: ★☆☆☆☆  Gene-disease association found in Text Mining only ★★☆☆☆  Found in Text Mining and Unknown/Other Associations ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Phenotype Name Clinical Significance Source Evidence Score
ANXIETY DISORDERS Disgenet
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
ATTENTION DEFICIT DISORDER Disgenet
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
ATTENTION DEFICIT DISORDER WITH HYPERACTIVITY CTD
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Attention deficit-hyperactivity disorder, susceptibility to, 7 Uncertain significance; risk factor; Likely benign ClinVar
ClinVar, GWAS catalog
★★★☆☆
Reported in Unknown/Other Associations (≥2 sources)
Associations from Text Mining Disease associations identified through text mining
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Agoraphobia Agoraphobia BEFREE 16401665
★☆☆☆☆
Found in Text Mining only
Amyotrophic Lateral Sclerosis Amyotrophic Lateral Sclerosis BEFREE 28856708
★☆☆☆☆
Found in Text Mining only
Anhedonia Anhedonia BEFREE 31792153
★☆☆☆☆
Found in Text Mining only
Anorexia Nervosa Anorexia BEFREE 20946355, 23239044, 23337130, 30554102
★☆☆☆☆
Found in Text Mining only
Antisocial Personality Disorder Antisocial personality disorder Pubtator 36094569 Associate
★☆☆☆☆
Found in Text Mining only
Anxiety Anxiety disorder Pubtator 17176491, 20451217, 38093326 Associate
★☆☆☆☆
Found in Text Mining only
Anxiety Anxiety Disorder BEFREE 18801407, 19361870, 19588223, 21257271, 22835848, 23684859, 26232682, 29520738, 29935278, 31415826
★☆☆☆☆
Found in Text Mining only
Anxiety Disorders Anxiety Disorder BEFREE 18801407, 19361870, 19588223, 20331984, 21257271, 22835848, 22915309, 23510446, 23684859, 26232682, 29520738, 29935278, 31415826
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Anxiety Disorders Anxiety disorder Pubtator 19052197 Associate
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Attention Deficit and Disruptive Behavior Disorders Attention deficit hyperactivity disorder Pubtator 27871272 Associate
★☆☆☆☆
Found in Text Mining only