TPH2 (tryptophan hydroxylase 2)

Gene
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
121278
Gene name Gene Name - the full gene name approved by the HGNC.
Tryptophan hydroxylase 2
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
TPH2
Synonyms (NCBI Gene) Gene synonyms aliases
ADHD7, NTPH
Chromosome Chromosome number
12
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
12q21.1
Summary Summary of gene provided in NCBI Entrez Gene.
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.
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.
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
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all(1)
Transcription factor Regulation Reference
REST Activation 17613521
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
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 ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
MIM HGNC e!Ensembl
607478 20692 ENSG00000139287
Protein
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
UniProt ID 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
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Associated diseases Disease associations categorized as Causal (pathogenic variants), Unknown (uncertain genetic evidence), or Text Mining (literature-based associations)
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide Unknown Diseases (1)
Unknown Includes: (1) ClinVar NON-pathogenic variants (Uncertain, Benign, Conflicting, VUS), (2) GenCC associations, (3) GWAS associations, (4) CBGDA evidence-based associations. NOTE: Diseases with pathogenic evidence are excluded to avoid conflicts.
Disease merge term Disease name Evidence References Source
Attention Deficit Hyperactivity Disorder Attention deficit-hyperactivity disorder, susceptibility to, 7 N/A N/A ClinVar
Show/Hide Text Mining Associations (53)
Associations from Text Mining Disease 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