TPH2 (tryptophan hydroxylase 2)

2014-11-01  

Identity

HGNC
TPH2
LOCATION
12q21.1
LOCUSID
121278
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
Adipose - Subcutaneous
Adipose - Visceral
Adrenal Gland
Artery - Aorta
Artery - Tibial
Bladder
Brain - Amygdala
Brain - Anterior cingulate cortex
Brain - Caudate
Brain - Cerebellar Hemisphere
Brain - Cerebellum
Brain - Cortex
Brain - Frontal Cortex
Brain - Hippocampus
Brain - Hypothalamus
Brain - Nucleus accumbens
Brain - Putamen
Brain - Spinal cord
Brain - Substantia nigra
Breast - Mammary Tissue
Cells - Cultured fibroblasts
Cells - EBV - transformed lymphocytes
Cervix - Ectocervix
Cervix - Endocervix
Colon - Sigmoid
Colon - Transverse
Esophagus - Gastroesophageal Junction
Esophagus - Mucosa
Esophagus - Muscularis
Fallopian Tube
Heart - Atrial Appendage
Heart - Left Ventricle
Kidney - Cortex
Kidney - Medulla
Liver
Lung
Minor Salivary Gland
Muscle - Skeletal
Nerve - Tibial
Ovary
Pancreas
Pituitary
Prostate
Skin - Not Sun Exposed
Skin - Sun Exposed
Small Intestine - Terminal Ileum
Spleen
Stomach
Testis
Thyroid
Uterus
Vagina
Whole Blood

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
cerebral cortex
cerebellum
hippocampus
caudate
dorsal raphe
thyroid gland
parathyroid gland
adrenal gland
nasopharynx
bronchus
lung
oral mucosa
salivary gland
esophagus
stomach 1
stomach 2
duodenum
small intestine
colon
rectum
liver
gallbladder
pancreas
kidney
urinary bladder
testis
epididymis
seminal vesicle
prostate
vagina
ovary
fallopian tube
endometrium 1
endometrium 2
cervix, uterine
placenta
breast
heart muscle
smooth muscle
skeletal muscle
soft tissue 1
soft tissue 2
adipose tissue
skin 1
skin 2
appendix
spleen
lymph node
tonsil
bone marrow

PharmGKB

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

References

Pubmed IDYearTitleCitations
369803112023HTR1A, TPH2, and 5-HTTLPR Polymorphisms and Their Impact on the Severity of Depressive Symptoms and on the Concentration of Tryptophan Catabolites during Hepatitis C Treatment with Pegylated Interferon-α2a and Oral Ribavirin (PEG-IFN-α2a/RBV).0
371043672023Serotonergic modulation of normal and abnormal brain dynamics: The genetic influence of the TPH2 G-703T genotype and DNA methylation on wavelet variance in children and adolescents with and without ADHD.1
371614552023Influence of TPH2 and HTR1A polymorphisms on lifelong premature ejaculation risk among the chinese Han population.0
374234552023TPH2-703 G/T polymorphism is associated with stress, depression, and psychosocial symptoms in mentally healthy Mexicans.0
380933262023Interaction between childhood trauma experience and TPH2 rs7305115 gene polymorphism in brain gray matter volume.0
369803112023HTR1A, TPH2, and 5-HTTLPR Polymorphisms and Their Impact on the Severity of Depressive Symptoms and on the Concentration of Tryptophan Catabolites during Hepatitis C Treatment with Pegylated Interferon-α2a and Oral Ribavirin (PEG-IFN-α2a/RBV).0
371043672023Serotonergic modulation of normal and abnormal brain dynamics: The genetic influence of the TPH2 G-703T genotype and DNA methylation on wavelet variance in children and adolescents with and without ADHD.1
371614552023Influence of TPH2 and HTR1A polymorphisms on lifelong premature ejaculation risk among the chinese Han population.0
374234552023TPH2-703 G/T polymorphism is associated with stress, depression, and psychosocial symptoms in mentally healthy Mexicans.0
380933262023Interaction between childhood trauma experience and TPH2 rs7305115 gene polymorphism in brain gray matter volume.0
349791912022Meta-analysis of association between TPH2 single nucleotide poiymorphism and depression.4
353372982022Influence and interaction of resting state functional magnetic resonance and tryptophan hydroxylase-2 methylation on short-term antidepressant drug response.0
349791912022Meta-analysis of association between TPH2 single nucleotide poiymorphism and depression.4
353372982022Influence and interaction of resting state functional magnetic resonance and tryptophan hydroxylase-2 methylation on short-term antidepressant drug response.0
329815372021Serotonin and early life stress interact to shape brain architecture and anxious avoidant behavior - a TPH2 imaging genetics approach.9

Citation

Dessen P

TPH2 (tryptophan hydroxylase 2)

Atlas Genet Cytogenet Oncol Haematol. 2014-11-01

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