TPH2 (tryptophan hydroxylase 2)

2014-11-01  

Identity

HGNC
LOCATION
12q21.1
LOCUSID
ALIAS
ADHD7,NTPH

Other Information

Locus ID:

NCBI: 121278
MIM: 607478
HGNC: 20692
Ensembl: ENSG00000139287

Variants:

dbSNP: 121278
ClinVar: 121278
TCGA: ENSG00000139287
COSMIC: TPH2

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000139287ENST00000333850Q8IWU9

Expression (GTEx)

0
1

Pathways

PathwaySourceExternal ID
Tryptophan metabolismKEGGko00380
Tryptophan metabolismKEGGhsa00380
Metabolic pathwaysKEGGhsa01100
Melatonin biosynthesis, tryptophan => serotonin => melatoninKEGGhsa_M00037
Melatonin biosynthesis, tryptophan => serotonin => melatoninKEGGM00037
Serotonergic synapseKEGGhsa04726
MetabolismREACTOMER-HSA-1430728
Metabolism of amino acids and derivativesREACTOMER-HSA-71291
Amine-derived hormonesREACTOMER-HSA-209776
Serotonin and melatonin biosynthesisREACTOMER-HSA-209931

Protein levels (Protein atlas)

Not detected
Low
Medium
High

PharmGKB

Entity IDNameTypeEvidenceAssociationPKPDPMIDs
PA164713257Selective serotonin reuptake inhibitorsChemicalLiterature, MultilinkAnnotationassociated24930681
PA447207Depressive DisorderDiseaseClinicalAnnotationassociatedPD23510446
PA447278DepressionDiseaseClinicalAnnotationassociatedPD18496129
PA447321Depressive Disorder, MajorDiseaseClinicalAnnotationassociatedPD18496129
PA449015citalopramChemicalClinicalAnnotationassociatedPD23510446
PA450522mirtazapineChemicalClinicalAnnotationassociatedPD18496129
PA451866venlafaxineChemicalClinicalAnnotationassociatedPD18496129
PA452229antidepressantsChemicalClinicalAnnotationassociatedPD18496129

References

Pubmed IDYearTitleCitations
125116432003Synthesis of serotonin by a second tryptophan hydroxylase isoform.330
195069062009Candidate gene studies of ADHD: a meta-analytic review.263
168943952006The analysis of 51 genes in DSM-IV combined type attention deficit hyperactivity disorder: association signals in DRD4, DAT1 and 16 other genes.153
188215652008Genome-wide association scan of quantitative traits for attention deficit hyperactivity disorder identifies novel associations and confirms candidate gene associations.133
201245382010Brainstem serotonergic deficiency in sudden infant death syndrome.105
156296982005Loss-of-function mutation in tryptophan hydroxylase-2 identified in unipolar major depression.97
198745742009Genetical genomic determinants of alcohol consumption in rats and humans.93
199131212009Gene-centric association signals for lipids and apolipoproteins identified via the HumanCVD BeadChip.85
151240062004SNP and haplotype analysis of a novel tryptophan hydroxylase isoform (TPH2) gene provide evidence for association with major depression.79
151240062004SNP and haplotype analysis of a novel tryptophan hydroxylase isoform (TPH2) gene provide evidence for association with major depression.79

Citation

Dessen P

TPH2 (tryptophan hydroxylase 2)

Atlas Genet Cytogenet Oncol Haematol. 2014-11-01

Online version: http://atlasgeneticsoncology.org/gene/75074/tph2