Free for academic non-profit institutions. Other users need a Commercial license

Aliases for TPH2 Gene

Aliases for TPH2 Gene

  • Tryptophan Hydroxylase 2 2 3 5
  • Neuronal Tryptophan Hydroxylase 3 4
  • Tryptophan 5-Monooxygenase 2 3 4
  • EC 1.14.16.4 4 63
  • NTPH 3 4
  • Tryptophan 5-Monooxygenase 2
  • EC 1.14.16 63
  • ADHD7 3

External Ids for TPH2 Gene

Previous GeneCards Identifiers for TPH2 Gene

  • GC12P072284
  • GC12P072049
  • GC12P070618
  • GC12P069382
  • GC12P072332

Summaries for TPH2 Gene

Entrez Gene Summary for TPH2 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 associated with psychiatric diseases such as bipolar affective disorder and major depression. [provided by RefSeq, Feb 2016]

GeneCards Summary for TPH2 Gene

TPH2 (Tryptophan Hydroxylase 2) is a Protein Coding gene. Diseases associated with TPH2 include major depressive disorder and accelerated response to antidepressant drug treatment and tryptophan hydroxylase deficiency. Among its related pathways are Metabolism and Tryptophan metabolism. GO annotations related to this gene include iron ion binding and oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, reduced pteridine as one donor, and incorporation of one atom of oxygen. An important paralog of this gene is TPH1.

Tocris Summary for TPH2 Gene

  • Hydroxylases are enzymes that catalyze the addition of hydroxyl groups to substrates during oxidation reactions. This diverse group of enzymes includes tryptophan hydroxylase (E.C. 1.14.16.4), steroid 11-beta hydroxylase (E.C. 1.14.15.4), and LTB4 omega-hydroxylase (E.C. 1.14.13.30).

Gene Wiki entry for TPH2 Gene

No data available for UniProtKB/Swiss-Prot , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for TPH2 Gene

Genomics for TPH2 Gene

Regulatory Elements for TPH2 Gene

Genomic Location for TPH2 Gene

Chromosome:
12
Start:
71,938,846 bp from pter
End:
72,186,618 bp from pter
Size:
247,773 bases
Orientation:
Plus strand

Genomic View for TPH2 Gene

Genes around TPH2 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
TPH2 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for TPH2 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for TPH2 Gene

Proteins for TPH2 Gene

  • Protein details for TPH2 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q8IWU9-TPH2_HUMAN
    Recommended name:
    Tryptophan 5-hydroxylase 2
    Protein Accession:
    Q8IWU9
    Secondary Accessions:
    • A6NGA4
    • Q14CB0

    Protein attributes for TPH2 Gene

    Size:
    490 amino acids
    Molecular mass:
    56057 Da
    Cofactor:
    Name=Fe(2+); Xref=ChEBI:CHEBI:29033;
    Quaternary structure:
    No Data Available

    Three dimensional structures from OCA and Proteopedia for TPH2 Gene

    Alternative splice isoforms for TPH2 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for TPH2 Gene

Proteomics data for TPH2 Gene at MOPED

Post-translational modifications for TPH2 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for TPH2 Gene

ENSEMBL proteins:
REFSEQ proteins:

Antibody Products

  • R&D Systems Antibodies for TPH2 (Tryptophan Hydroxylase 2)
  • Cell Signaling Technology (CST) Antibodies for TPH2 (TPH2)

Domains & Families for TPH2 Gene

Gene Families for TPH2 Gene

Graphical View of Domain Structure for InterPro Entry

Q8IWU9

UniProtKB/Swiss-Prot:

TPH2_HUMAN :
  • Contains 1 ACT domain.
  • Belongs to the biopterin-dependent aromatic amino acid hydroxylase family.
Domain:
  • Contains 1 ACT domain.
Family:
  • Belongs to the biopterin-dependent aromatic amino acid hydroxylase family.
genes like me logo Genes that share domains with TPH2: view

Function for TPH2 Gene

Molecular function for TPH2 Gene

UniProtKB/Swiss-Prot BiophysicochemicalProperties:
Kinetic parameters: KM=41.3 uM for L-tryptophan {ECO:0000269 PubMed:17905754}; Vmax=833 nmol/min/mg enzyme {ECO:0000269 PubMed:17905754};
UniProtKB/Swiss-Prot CatalyticActivity:
L-tryptophan + tetrahydrobiopterin + O(2) = 5-hydroxy-L-tryptophan + 4a-hydroxytetrahydrobiopterin.

Enzyme Numbers (IUBMB) for TPH2 Gene

genes like me logo Genes that share phenotypes with TPH2: view

Animal Models for TPH2 Gene

MGI Knock Outs for TPH2:

Animal Model Products

  • Taconic Biosciences Mouse Models for TPH2

No data available for Gene Ontology (GO) - Molecular Function , Human Phenotype Ontology , miRNA , Transcription Factor Targets and HOMER Transcription for TPH2 Gene

Localization for TPH2 Gene

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for TPH2 Gene COMPARTMENTS Subcellular localization image for TPH2 gene
Compartment Confidence
cytosol 5
nucleus 3
extracellular 1

No data available for Subcellular locations from UniProtKB/Swiss-Prot and Gene Ontology (GO) - Cellular Components for TPH2 Gene

Pathways & Interactions for TPH2 Gene

genes like me logo Genes that share pathways with TPH2: view

UniProtKB/Swiss-Prot Q8IWU9-TPH2_HUMAN

  • Pathway: Aromatic compound metabolism; serotonin biosynthesis; serotonin from L-tryptophan: step 1/2.

SIGNOR curated interactions for TPH2 Gene

Is activated by:

Gene Ontology (GO) - Biological Process for TPH2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0034641 cellular nitrogen compound metabolic process TAS --
GO:0042427 serotonin biosynthetic process IEA --
GO:0043627 response to estrogen IEA --
GO:0046219 indolalkylamine biosynthetic process TAS --
GO:0051384 response to glucocorticoid IEA --
genes like me logo Genes that share ontologies with TPH2: view

Drugs & Compounds for TPH2 Gene

(21) Drugs for TPH2 Gene - From: HMDB, IUPHAR, DGIdb, PharmGKB, Tocris, ApexBio, Novoseek, and DrugBank

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
L-Tryptophan Approved Nutra Positive, Allosteric regulator, Enzyme, substrate 0
Citalopram Approved Pharma 494
Mirtazapine Approved Pharma 78
Venlafaxine Approved Pharma Dual serotonin/noradrenalin re-uptake inhibitor 0
Tetrahydrobiopterin Approved, Investigational Pharma 0

(12) Additional Compounds for TPH2 Gene - From: HMDB, IUPHAR, Tocris, and Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
alpha-propyldopacetamide
Inhibition, Inhibitor
PCPA
Inhibition, Inhibitor
4a-Carbinolamine tetrahydrobiopterin
  • 1,3,5-Benzenetriol
  • 1,3,5-Trihydroxybenzene
  • 1,3,5-Trihydroxybenzene anhydrate
  • 1,3,5-Trihydroxybenzene anhydrous
  • 1,3,5-Trihydroxybenzene dihydrate
79647-29-3
4a-hydroxytetrahydrobiopterin
  • (6R)-6-(L-erythro-1,2-Dihydroxypropyl)-5,6,7,8-tetrahydro-4a-hydroxypterin
  • 2-Amino-6-(1,2-dihydroxypropyl)-4a-hydroxy-5,6,7,8-tetrahydropteridin-4(4aH)-one
  • 2-Amino-6-(1,2-dihydroxypropyl)-5,6,7,8-tetrahydro-4a-hydroxy-4(4aH)-Pteridinone
  • 2-Amino-6-[(1R,2S)-1,2-dihydroxypropyl]-4a-hydroxy-1,5,6,7-tetrahydropteridin-4-one
  • 4a-Hydroxy-5,6,7,8-tetrahydrobiopterin
70110-58-6
Fe2+
  • Armco iron
  • Carbonyl iron
  • FE
  • Ferrovac e
  • Hematite
15438-31-0
genes like me logo Genes that share compounds with TPH2: view

Transcripts for TPH2 Gene

mRNA/cDNA for TPH2 Gene

(2) REFSEQ mRNAs :
(4) Additional mRNA sequences :
(6) Selected AceView cDNA sequences:
(6) Ensembl transcripts including schematic representations, and UCSC links where relevant :

Unigene Clusters for TPH2 Gene

Tryptophan hydroxylase 2:
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for TPH2 Gene

No ASD Table

Relevant External Links for TPH2 Gene

GeneLoc Exon Structure for
TPH2
ECgene alternative splicing isoforms for
TPH2

Expression for TPH2 Gene

mRNA expression in normal human tissues for TPH2 Gene

mRNA differential expression in normal tissues according to GTEx for TPH2 Gene

This gene is overexpressed in Pituitary (x8.6), Brain - Hippocampus (x7.1), Brain - Anterior cingulate cortex (BA24) (x5.1), Brain - Hypothalamus (x4.8), Brain - Frontal Cortex (BA9) (x4.7), and Testis (x4.3).

Protein differential expression in normal tissues from HIPED for TPH2 Gene

This gene is overexpressed in Spinal cord (68.9).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, and MOPED for TPH2 Gene



SOURCE GeneReport for Unigene cluster for TPH2 Gene Hs.736576

mRNA Expression by UniProt/SwissProt for TPH2 Gene

Q8IWU9-TPH2_HUMAN
Tissue specificity: Brain specific.
genes like me logo Genes that share expression patterns with TPH2: view

Protein tissue co-expression partners for TPH2 Gene

- Elite partner

Primer Products

In Situ Assay Products

Orthologs for TPH2 Gene

This gene was present in the common ancestor of animals.

Orthologs for TPH2 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia TPH2 36
  • 100 (a)
OneToOne
TPH2 35
  • 99.32 (n)
  • 99.59 (a)
cow
(Bos Taurus)
Mammalia TPH2 36
  • 90 (a)
OneToOne
dog
(Canis familiaris)
Mammalia TPH2 35
  • 84.83 (n)
  • 90.61 (a)
TPH2 36
  • 90 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Tph2 16
Tph2 35
  • 87.5 (n)
  • 93.44 (a)
Tph2 36
  • 94 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia TPH2 36
  • 36 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Tph2 35
  • 87.77 (n)
  • 94.23 (a)
chicken
(Gallus gallus)
Aves TPH2 35
  • 81.15 (n)
  • 91.6 (a)
TPH2 36
  • 87 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia TPH2 36
  • 91 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia tph2 35
  • 74.16 (n)
  • 80.82 (a)
zebrafish
(Danio rerio)
Actinopterygii tph2 35
  • 67.97 (n)
  • 76.3 (a)
tph2 36
  • 77 (a)
OneToOne
fruit fly
(Drosophila melanogaster)
Insecta Trh 36
  • 46 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea tph-1 36
  • 42 (a)
OneToMany
tph-1 35
  • 58.58 (n)
  • 58.13 (a)
sea squirt
(Ciona savignyi)
Ascidiacea -- 36
  • 62 (a)
OneToMany
Species with no ortholog for TPH2:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • oppossum (Monodelphis domestica)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for TPH2 Gene

ENSEMBL:
Gene Tree for TPH2 (if available)
TreeFam:
Gene Tree for TPH2 (if available)

Paralogs for TPH2 Gene

Paralogs for TPH2 Gene

genes like me logo Genes that share paralogs with TPH2: view

Variants for TPH2 Gene

Sequence variations from dbSNP and Humsavar for TPH2 Gene

SNP ID Clin Chr 12 pos Sequence Context AA Info Type
VAR_026749 -
rs17110563 - 71,972,526(+) GTCAG(C/T)CCATT reference, missense
VAR_058938 -
rs34115267 - 71,941,584(+) TGAAG(C/G)TAAAT nc-transcript-variant, reference, missense
rs78162420 - 71,941,600(+) TAACT(A/C)TGGCA nc-transcript-variant, reference, missense

Structural Variations from Database of Genomic Variants (DGV) for TPH2 Gene

Variant ID Type Subtype PubMed ID
nsv518498 CNV Loss 19592680
esv2746047 CNV Deletion 23290073
esv1003596 CNV Deletion 20482838
esv2451960 CNV Deletion 19546169
esv2253374 CNV Deletion 18987734
nsv512284 CNV Loss 21212237
esv996582 CNV Deletion 20482838
esv2746048 CNV Deletion 23290073
esv9704 CNV Loss 19470904
esv1137133 CNV Deletion 17803354
nsv819959 CNV Loss 19587683
dgv295n67 CNV Loss 20364138
nsv821295 CNV Deletion 20802225
nsv826428 CNV Loss 20364138
esv23023 CNV Loss 19812545
nsv826429 CNV Loss 20364138
esv275101 CNV Gain+Loss 21479260
esv3280 CNV Deletion 18987735
esv2746049 CNV Deletion 23290073
dgv301e199 CNV Deletion 23128226
nsv899256 CNV Gain 21882294

Variation tolerance for TPH2 Gene

Residual Variation Intolerance Score: 28.8% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 1.78; 33.60% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for TPH2 Gene

HapMap Linkage Disequilibrium report
TPH2
Human Gene Mutation Database (HGMD)
TPH2

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for TPH2 Gene

Disorders for TPH2 Gene

MalaCards: The human disease database

(22) MalaCards diseases for TPH2 Gene - From: OMIM, GeneTests, DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
major depressive disorder and accelerated response to antidepressant drug treatment
  • unipolar depression
tryptophan hydroxylase deficiency
muscular dystrophy-dystroglycanopathy , type a, 9
  • muscular dystrophy-dystroglycanopathy congenital with brain and eye anomalies a9
periodic fever, menstrual cycle dependent
  • periodic fever, menstrual cycle-dependent
attention deficit-hyperactivity disorder
  • attention deficit hyperactivity disorder
- elite association - COSMIC cancer census association via MalaCards
Search TPH2 in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

TPH2_HUMAN
  • Major depressive disorder (MDD) [MIM:608516]: A common psychiatric disorder. It is a complex trait characterized by one or more major depressive episodes without a history of manic, mixed, or hypomanic episodes. A major depressive episode is characterized by at least 2 weeks during which there is a new onset or clear worsening of either depressed mood or loss of interest or pleasure in nearly all activities. Four additional symptoms must also be present including changes in appetite, weight, sleep, and psychomotor activity; decreased energy; feelings of worthlessness or guilt; difficulty thinking, concentrating, or making decisions; or recurrent thoughts of death or suicidal ideation, plans, or attempts. The episode must be accompanied by distress or impairment in social, occupational, or other important areas of functioning. {ECO:0000269 PubMed:15629698}. Note=Disease susceptibility is associated with variations affecting the gene represented in this entry.
  • Attention deficit-hyperactivity disorder 7 (ADHD7) [MIM:613003]: A neurobehavioral developmental disorder primarily characterized by the coexistence of attentional problems and hyperactivity, with each behavior occurring infrequently alone. {ECO:0000269 PubMed:18347598}. Note=Disease susceptibility is associated with variations affecting the gene represented in this entry. Naturally occurring variants of TPH2 with impaired enzyme activity could cause deficiency of serotonin production and result in an increased risk of developing behavioral disorders.

Relevant External Links for TPH2

Genetic Association Database (GAD)
TPH2
Human Genome Epidemiology (HuGE) Navigator
TPH2
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
TPH2
genes like me logo Genes that share disorders with TPH2: view

No data available for Genatlas for TPH2 Gene

Publications for TPH2 Gene

  1. Nested association between genetic variation in tryptophan hydroxylase II, bipolar affective disorder, and suicide attempts. (PMID: 16806105) Lopez V.A. … McMahon F.J. (Biol. Psychiatry 2007) 3 23 25 26
  2. Synthesis of serotonin by a second tryptophan hydroxylase isoform. (PMID: 12511643) Walther D.J. … Bader M. (Science 2003) 2 3 4 67
  3. Serotonin-1A receptor gene HTR1A variation predicts interferon-induced depression in chronic hepatitis C. (PMID: 17408646) Kraus M.R. … Scheurlen M. (Gastroenterology 2007) 3 25 26
  4. Association of polymorphisms of the tryptophan hydroxylase 2 gene with risk for bipolar disorder or suicidal behavior. (PMID: 19800079) Campos S.B. … Correa H. (J Psychiatr Res 2010) 3 23
  5. A gene-environment investigation on personality traits in two independent clinical sets of adult patients with personality disorder and attention deficit/hyperactive disorder. (PMID: 19894072) Jacob C.P. … Reif A. (Eur Arch Psychiatry Clin Neurosci 2010) 3 23

Products for TPH2 Gene

Sources for TPH2 Gene

Back to Top

Content