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Category   Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21
GIFtS

TPH2 Gene

protein-coding   GIFtS: 66
GCID: GC12P072284

Tryptophan Hydroxylase 2

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(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
About This Section

Aliases
Tryptophan Hydroxylase 21 2     EC 1.14.16.43 8
NTPH2 3 5     ADHD72 5
Neuronal Tryptophan Hydroxylase2 3     Tryptophan 5-Hydroxylase 22
Tryptophan 5-Monooxygenase 22 3     EC 1.14.168

External Ids:    HGNC: 206921   Entrez Gene: 1212782   Ensembl: ENSG000001392877   OMIM: 6074785   UniProtKB: Q8IWU93   

Export aliases for TPH2 gene to outside databases

Previous GC identifers: GC12P072049 GC12P070618 GC12P069382


(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

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. The
human genome contains two related tryptophan hydroxylases, one on chromosome 11p15-p14 and one on chromosome
12q21. This gene is expressed predominantly in the brain stem. Mutations in this gene may be associated with
psychiatric diseases such as bipolar affective disorder and major depression. (provided by RefSeq, Jul 2008)

GeneCards Summary for TPH2 Gene: 
TPH2 (tryptophan hydroxylase 2) is a protein-coding gene. Diseases associated with TPH2 include tryptophan hydroxylase deficiency, and attention deficit hyperactivity disorder, and among its related super-pathways are Amine-derived hormones and Metabolic pathways. GO annotations related to this gene include tryptophan 5-monooxygenase activity and iron ion binding. An important paralog of this gene is PAH.

summary for TPH2 Gene:
Hydroxylases are enzymes that catalyze the addition of -OH (hydroxyl) groups to their substrate during
oxidation reactions. This diverse group of enzymes includes tryptophan hydroxylase (E.C. 1.14.16.4), which
is involved in serotonin synthesis; steroid 11-beta hydroxylase (also known as CYP11B1) (E.C. 1.14.15.4),
which is involved in glucocorticoid synthesis; and LTB4 omega-hydroxylase (also known as CYP4F3) (E.C.
1.14.13.30), which is involved in arachidonic acid metabolism.

Gene Wiki entry for TPH2 Gene


(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 73), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000012.11  NT_029419.12  NC_018923.2  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the TPH2 gene promoter:
         Sox5   NRSF form 1   SEF-1 (1)   POU3F2 (N-Oct-5b)   POU3F2 (N-Oct-5a)   POU3F2   NRSF form 2   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidTPH2 promoter sequence
   Search SABiosciences Chromatin IP Primers for TPH2

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat TPH2


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 12q21.1   Ensembl cytogenetic band:  12q21.1   HGNC cytogenetic band: 12q15

TPH2 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
TPH2 gene location

GeneLoc information about chromosome 12         GeneLoc Exon Structure

GeneLoc location for GC12P072284:  view genomic region     (about GC identifiers)

Start:
72,332,626 bp from pter      End:
72,580,398 bp from pter
Size:
247,773 bases      Orientation:
plus strand

(According to UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MAXQB RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Ontologies according to Gene Ontology Consortium 01 Oct 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
About This Section

UniProtKB/Swiss-Prot: TPH2_HUMAN, Q8IWU9 (See protein sequence)
Recommended Name: Tryptophan 5-hydroxylase 2  
Size: 490 amino acids; 56057 Da
Cofactor: Fe(2+) ion (By similarity)
Rna editing: Modified_positions=433, 441, 468; Note=Modulates the kinetic properties of both isoforms
Secondary accessions: A6NGA4 Q14CB0
Alternative splicing: 2 isoforms:  Q8IWU9-1   Q8IWU9-2   

Explore the universe of human proteins at neXtProt for TPH2: NX_Q8IWU9

Explore proteomics data for TPH2 at MOPED 

Post-translational modifications:

  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_Q8IWU9

  • 4/28 DME Specific Peptides for TPH2 (Q8IWU9) (see all 28)
     EFGLCKQ  IGLASLG  PQLEDVS  DALNKMN 

    TPH2 Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    TPH2 Protein Expression
    REFSEQ proteins: NP_775489.2  
    ENSEMBL proteins: 
     ENSP00000329093  
    Reactome Protein details: Q8IWU9
    Human Recombinant Protein Products for TPH2: 
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    Cloud-Clone Corp. Proteins for TPH2 

    Gene Ontology (GO): 2 cellular component terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005829cytosol TAS--
    GO:0043005neuron projection IEA--

    TPH2 for ontologies           About GeneDecksing



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    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    IUPHAR Guide to PHARMACOLOGY protein family classification: L-Tryptophan hydroxylase 2 
    Amino acid hydroxylases

    5/6 InterPro protein domains (see all 6):
     IPR002912 ACT_dom
     IPR019774 Aromatic-AA_hydroxylase_C
     IPR005963 Trp_5_mOase
     IPR019773 Tyrosine_3-monooxygenase-like
     IPR001273 ArAA_hydroxylase

    Graphical View of Domain Structure for InterPro Entry Q8IWU9

    ProtoNet protein and cluster: Q8IWU9

    2 Blocks protein domains:
    IPB001273 Aromatic amino acid hydroxylase
    IPB002912 Amino acid-binding ACT


    UniProtKB/Swiss-Prot: TPH2_HUMAN, Q8IWU9
    Similarity: Belongs to the biopterin-dependent aromatic amino acid hydroxylase family
    Similarity: Contains 1 ACT domain


    TPH2 for domains           About GeneDecksing


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
    bound targets from SABiosciences, miRNA Gene Targets from miRTarBase, shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Sirion Biotech, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, Vector BioLabs, and Sirion Biotech, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene.)
    About This Section

    Molecular Function:

         UniProtKB/Swiss-Prot Summary: TPH2_HUMAN, Q8IWU9
    Catalytic activity: L-tryptophan + tetrahydrobiopterin + O(2) = 5-hydroxy-L-tryptophan +
    4a-hydroxytetrahydrobiopterin
    Biophysicochemical properties: Kinetic parameters: KM=41.3 uM for L-tryptophan; Vmax=833 nmol/min/mg enzyme;

         Enzyme Numbers (IUBMB): EC 1.14.16.41 2 EC 1.14.162

         Gene Ontology (GO): 4 molecular function terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0004510tryptophan 5-monooxygenase activity IEA--
    GO:0005506iron ion binding IEA--
    GO:0016597amino acid binding IEA--
    GO:0016714oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, reduced pteridine as one donor, and incorporation of one atom of oxygen ----
         
    TPH2 for ontologies           About GeneDecksing


    Phenotypes:
         11 MGI mutant phenotypes (inferred from 12 alleles(MGI details for Tph2):
     adipose tissue  behavior/neurological  cardiovascular system  growth/size  homeostasis/metabolism 
     integument  mortality/aging  nervous system  no phenotypic analysis  respiratory system 
     taste/olfaction 

    TPH2 for phenotypes           About GeneDecksing

    Animal Models:
         MGI mouse knock-outs for TPH2: Tph2tm1Lex Tph2tm1Zfc Tph2tm1Bdr Tph2tm1Dmkh Tph2tm1.2Kpl

       inGenious Targeting Laboratory - Custom generated mouse model solutions for TPH2 
       inGenious Targeting Laboratory - Custom generated inducible mouse model solutions for TPH2

       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for TPH2 
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for TPH2 

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    SwitchGear 3'UTR luciferase reporter plasmidTPH2 3' UTR sequence
    Inhib. RNA
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    (Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene).
    About This Section

    SuperPaths for TPH2 About   (see all 9)                                                                                              See pathways by source

    SuperPathContained pathways About
    1Regulation of thyroid hormone activity
    Amine-derived hormones0.43
    Serotonin and melatonin biosynthesis0.36
    serotonin and melatonin biosynthesis0.36
    2Metabolism
    Metabolism0.40
    Metabolic pathways0.40
    3tryptophan utilization II
    tryptophan utilization II0.70
    tryptophan utilization I0.70
    4Tryptophan metabolism
    Tryptophan metabolism0.46
    5Monoamine GPCRs
    Selective Serotonin Reuptake Inhibitor Pathway, Pharmacodynamics0.33

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways


    5 BioSystems Pathways for TPH2
        SIDS Susceptibility Pathways
    Monoamine Transport
    serotonin and melatonin biosynthesis
    tryptophan utilization II
    tryptophan utilization I

    4        Reactome Pathways for TPH2
        Amine-derived hormones
    Serotonin and melatonin biosynthesis
    Metabolism
    Metabolism of amino acids and derivatives

    1 PharmGKB Pathway for TPH2
        Selective Serotonin Reuptake Inhibitor Pathway, Pharmacodynamics

    3         Kegg Pathways  (Kegg details for TPH2):
        Tryptophan metabolism
    Metabolic pathways
    Serotonergic synapse

    UniProtKB/Swiss-Prot: TPH2_HUMAN, Q8IWU9
    Pathway: Aromatic compound metabolism; serotonin biosynthesis; serotonin from L-tryptophan: step 1/2


    TPH2 for pathways           About GeneDecksing

    Interactions:

        SABiosciences Gene Network CentralTM Interacting Genes and Proteins Network for TPH2

    STRING Interaction Network Preview (showing 5 interactants - click image to see 8)

    5/8 Interacting proteins for TPH2 (Q8IWU92, 3 ENSP000003290934) via UniProtKB, MINT, STRING, and/or I2D (see all 8)

    InteractantInteraction Details
    GeneCardExternal ID(s)
    YWHAEP622582, 3, ENSP000002643354MINT-8008017 I2D: score=1 STRING: ENSP00000264335
    DDCENSP000003506164STRING: ENSP00000350616
    IDO1ENSP000002535134STRING: ENSP00000253513
    IL4I1ENSP000003425574STRING: ENSP00000342557
    WARSENSP000003474954STRING: ENSP00000347495
    About this table

    Gene Ontology (GO): 5/16 biological process terms (GO ID links to tree view) (see all 16):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006950response to stress IEA--
    GO:0007623circadian rhythm IEA--
    GO:0008152metabolic process ----
    GO:0009072aromatic amino acid family metabolic process IEA--
    GO:0009451RNA modification IEA--

    TPH2 for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
    About This Section

    TPH2 for compounds           About GeneDecksing

    Browse Small Molecules at EMD Millipore
    Browse drugs & compounds from Enzo Life Sciences

    Compounds for TPH2 available from Tocris Bioscience    About this table
    CompoundAction CAS #
    Metyrapone11-beta hydroxylase inhibitor[54-36-4]
    DMOGProlylhydroxylase inhibitor[89464-63-1]
    Ro 61-8048Potent kynurenine 3-hydroxylase inhibitor[199666-03-0]

    8 HMDB Compounds for TPH2    About this table
    CompoundSynonyms CAS #PubMed Ids
    4a-Hydroxytetrahydrobiopterin2-amino-6-(1,2-dihydroxypropyl)-4a-hydroxy-5,6,7,8-tetrahydropteridin-4(4aH)-one (see all 7)70110-58-6--
    5-Hydroxy-L-tryptophan(+-)-5-Hydroxytryptophan (see all 21)4350-09-8--
    IronArmco iron (see all 19)7439-89-6--
    L-Tryptophan(-)-tryptophan (see all 53)73-22-3--
    OxygenOxygen (see all 5)7782-44-7--
    Sapropterin(6R)-5,6,7,8-Tetrahydro-L-biopterin (see all 11)62989-33-7--
    Tetrahydrobiopterin(1R,2S)-(2-Amino-3,4,5,6,7,8-hexahydro-4-oxo-6-pteridinyl)-1,2-propandiol (see all 11)17528-72-2--
    WaterDihydrogen oxide (see all 2)7732-18-5--

    1 DrugBank Compound for TPH2    About this table
    CompoundSynonyms CAS #TypeActionsPubMed Ids
    L-Tryptophan(-)-Tryptophan (see all 14)73-22-3enzymesubstrate17666043 16806105 17408646 17519505 17492791

    4 IUPHAR Ligands for TPH2 (L-Tryptophan hydroxylase 2)    About this table 
    LigandTypeActionAffinityPubmed IDs
    fenfluramine
    InhibitorInhibition--
    6-fluorotryptophan
    InhibitorInhibition6457252
    PCPA
    InhibitorInhibition--
    α-propyldopacetamide
    InhibitorInhibition--

    6 Novoseek inferred chemical compound relationships for TPH2 gene    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    maoa 65.6 3 15052272 (2), 16610949 (1)
    fluoxetine 46.9 3 18496675 (1), 15052272 (1), 16982082 (1)
    5-hydroxytryptamine 39.9 12 18496675 (1), 17083332 (1)
    phenylalanine 2.32 2 15663479 (1), 16581181 (1)
    tyrosine 0 2 16581181 (1), 18444257 (1)
    estrogen 0 9 15857682 (3), 19878438 (1)

    3 PharmGKB related drug/compound annotations for TPH2 gene    About this table
    Drug/compound PharmGKB Annotation
    antidepressantsCA  
    mirtazapineCA  
    venlafaxineCA  

    Search CenterWatch for drugs/clinical trials and news about TPH2

    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    Conferences by KenesGroup, exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    RNAi Products from EMD Millipore,
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    About This Section

    REFSEQ mRNAs for TPH2 gene: 
    NM_173353.3  

    Unigene Cluster for TPH2:

    Tryptophan hydroxylase 2
    Hs.736576  [show with all ESTs]
    Unigene Representative Sequence: AK094614
    6 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000333850(uc009zrw.1 uc001swy.2) ENST00000546576 ENST00000550403
    ENST00000547348 ENST00000551074 ENST00000547278

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    Additional mRNA sequence: 

    AK094614.1 AY098914.1 BC114442.1 BC114499.1 

    2 DOTS entries:

    DT.100690267  DT.97798836 

    6 AceView cDNA sequences:

    AY098914 BM466099 NM_173353 BG530287 AK094614 BG532070 

    GeneLoc Exon Structure


    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

    TPH2 expression in normal human tissues (normalized intensities)      TPH2 embryonic expression: see
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: TGTCTTGATG
    TPH2 Expression
    About this image


    TPH2 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database 
     5/4 selected tissues (see all 4) fully expand
     
     Brain (Nervous System)    fully expand to see all 20 entries
             Thalamus
             Septum   
     
     Spinal Cord (Nervous System)    fully expand to see all 3 entries
             Dorsal Horn   
     
     Ovary (Reproductive System)
             oocyte   
     
     Neural Tube (Nervous System)
             Metencephalon

     -- (Nervous System)
             mouse/organ system/nervous system/central nervous system   

    See TPH2 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for TPH2

    SOURCE GeneReport for Unigene cluster: Hs.736576

    UniProtKB/Swiss-Prot: TPH2_HUMAN, Q8IWU9
    Tissue specificity: Brain specific

        SABiosciences Expression via Pathway-Focused PCR Array including TPH2: 
              Amino Acid Metabolism I in human mouse rat

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    In Situ
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for TPH2

    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
    About This Section

    This gene was present in the common ancestor of animals.

    Orthologs for TPH2 gene from 6/12 species (see all 12)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Tph21 , 5 tryptophan hydroxylase 21, 5 87.5(n)1
    93.44(a)1
      10 (63.51 cM)5
    2163431  NM_173391.31  NP_775567.21 
     1150786415 
    chicken
    (Gallus gallus)
    Aves TPH21 tryptophan hydroxylase 2 81.15(n)
    91.6(a)
      408026  NM_001001301.1  NP_001001301.1 
    lizard
    (Anolis carolinensis)
    Reptilia TPH26
    Uncharacterized protein
    91(a)
    1 ↔ 1
    5(38551005-38659163)
    zebrafish
    (Danio rerio)
    Actinopterygii tph21 tryptophan hydroxylase 2 (tryptophan 5-monooxygenase) 68.12(n)
    76.64(a)
      407712  NM_214795.1  NP_999960.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta Trh6
    ple6
    pale
    46(a)
    34(a)
    1 ↔ many
    possible ortholog
    3L(1190384-1193169)
    3L(6707138-6712625)
    worm
    (Caenorhabditis elegans)
    Secernentea tph-16
    cat-26
    Tyrosine 3-monooxygenase
    41(a)
    33(a)
    1 ↔ many
    possible ortholog
    II(7549335-7551977)
    II(258463-261063)


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

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for TPH2 gene
    PAH2  TH2  TPH12  
    3 SIMAP similar genes for TPH2 using alignment to 13 protein entries:     TPH2_HUMAN (see all proteins):
    TPH1    PAH    TH

    TPH2 for paralogs           About GeneDecksing



    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
    About This Section

    10/1941 SNPs in TPH2 are shown (see all 1941)    About this table     
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 12 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    VAR_0589424
    Attention deficit-hyperactivity disorder 7 (ADHD7)4--see VAR_0589422 R W mis40--------
    rs171105631,2,4
    C,F,Hother172366306(+) GTCAGC/TCCATT 2 P S mis1 ese311Minor allele frequency- T:0.00EU NS NA 7025
    rs1200741761,2
    Cother172372833(+) ACATCC/TGGCAT 2 R W mis10--------
    VAR_0589384
    ----see VAR_0589382 L P mis40--------
    VAR_0650204
    ----see VAR_0650202 Q R mis40--------
    VAR_0650194
    ----see VAR_0650192 R G mis40--------
    VAR_0267494
    ----see VAR_0267492 R H mis40--------
    rs1884054701,2
    --72330748(+) AGTGCA/GTTGCT 1 -- us2k10--------
    rs619264651,2
    C,F--72330796(+) TCCCAG/TGACTG 1 -- us2k12Minor allele frequency- T:0.50NA 4
    rs111789961,2
    C,F,H--72330854(+) TTGCCA/GTTGTT 1 -- us2k1 tfbs313Minor allele frequency- G:0.13NS EA NA WA 1122

    HapMap Linkage Disequilibrium report for TPH2 (72332626 - 72580398 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 10/21 variations for TPH2 (see all 21):    About this table     
    Variant IDTypeSubtypePubMed ID
    esv1137133CNV Deletion17803354
    esv2746048CNV Deletion23290073
    esv1003596CNV Deletion20482838
    esv2746047CNV Deletion23290073
    dgv301e199CNV Deletion23128226
    esv2451960CNV Deletion19546169
    esv3280CNV Deletion18987735
    esv996582CNV Deletion20482838
    nsv821295CNV Deletion20802225
    esv2746049CNV Deletion23290073


    Human Gene Mutation Database (HGMD): TPH2
    SABiosciences Cancer Mutation PCR Assays
    SeqTarget long-range PCR primers for resequencing TPH2
    DNA2.0 Custom Variant and Variant Library Synthesis for TPH2

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section
    OMIM gene information: 607478   
    OMIM disorders: 608516  613003  
    UniProtKB/Swiss-Prot: TPH2_HUMAN, Q8IWU9
  • 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. 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 co-existence of attentional problems and hyperactivity, with each behavior
    occurring infrequently alone. 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

  • 20/39 diseases for TPH2 (see all 39):    About MalaCards
    tryptophan hydroxylase deficiency    attention deficit hyperactivity disorder    borderline personality disorder    migraine without aura
    advanced sleep phase syndrome    personality disorder    panic disorder    anxiety disorder
    obsessive-compulsive disorder    autistic disorder    bipolar disorder    cocaine dependence
    hepatopulmonary syndrome    bipolar i disorder    mood disorder    irritable bowel syndrome
    chronic fatigue syndrome    nicotine dependence    eating disorder    traumatic brain injury

    3 diseases from the University of Copenhagen DISEASES database for TPH2:
    Anxiety disorder     Schizophrenia     Attention deficit hyperactivity disorder

    TPH2 for disorders           About GeneDecksing


    Congresses - knowledge worth sharing:  
    Alzheimer's & Parkinson's Diseases Congress (ADPD) 18 - 22 March 2015

    10/12 Novoseek inferred disease relationships for TPH2 gene (see all 12)    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    major depression 69.4 23 19588223 (4), 16203956 (4), 15124006 (2), 16337901 (1) (see all 14)
    bipolar disorder 55.9 12 17905754 (2), 17167340 (2), 19319927 (1), 16436194 (1) (see all 9)
    psychiatric disorder 53.9 21 20126463 (2), 17972101 (1), 19344641 (1), 19800079 (1) (see all 10)
    mood disorders 53.4 6 15968084 (2), 17604842 (2), 17015812 (1)
    attention-deficit hyperactivity disorder 49.3 5 19319927 (1), 18213624 (1), 19894072 (1), 18444257 (1) (see all 5)
    anxiety disorders 48.4 4 19588223 (3)
    panic disorder 33.9 8 16401665 (3), 17123728 (1)
    personality disorders 25.7 4 17176492 (2), 19894072 (1)
    schizophrenia 23.2 21 20144688 (3), 15840421 (2), 20126463 (1), 18444257 (1) (see all 5)
    obsessive-compulsive disorder 14.2 1 17346350 (1)

    Genetic Association Database (GAD): TPH2
    Human Genome Epidemiology (HuGE) Navigator: TPH2 (135 documents)

    Export disorders for TPH2 gene to outside databases

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
    About This Section

    PubMed articles for TPH2 gene, integrated from 9 sources (see all 240):
    (articles sorted by number of sources associating them with TPH2)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Nested association between genetic variation in tryptophan hydroxylase II, bipolar affective disorder, and suicide attempts. (PubMed id 16806105)1, 4, 7, 9 Lopez V.A....McMahon F.J. (2007)
    2. Serotonin-1A receptor gene HTR1A variation predicts interferon-induced depression in chronic hepatitis C. (PubMed id 17408646)1, 4, 7 Kraus M.R....Scheurlen M. (2007)
    3. Synthesis of serotonin by a second tryptophan hydroxylase isoform. (PubMed id 12511643)1, 2, 3 Walther D.J.... Bader M. (2003)
    4. Alternative splicing and extensive RNA editing of hum an TPH2 transcripts. (PubMed id 20126463)1, 2, 9 Grohmann M....Walther D.J. (2010)
    5. Association of functional polymorphisms of the human tryptophan hydroxylase 2 gene with risk for bipolar disorder in Han Chinese. (PubMed id 17768266)1, 4, 9 Lin Y.M....Sun H.S. (2007)
    6. Simultaneous analysis of serotonin transporter, trypt ophan hydroxylase 1 and 2 gene expression in the ventral prefrontal cortex of s uicide victims. (PubMed id 20052688)1, 4, 9 Perroud N....Guipponi M. (2010)
    7. Population-specific functional variant of the TPH2 ge ne 2755C>A polymorphism contributes risk association to major depression and anxiety in Chinese peripartum women. (PubMed id 19588223)1, 4, 9 Lin Y.M....Sun H.S. (2009)
    8. Involvement of tryptophan hydroxylase 2 (TPH2) gene p olymorphisms in susceptibility to coronary artery lesions in Korean children wi th Kawasaki disease. (PubMed id 19763617)1, 4, 9 Park S.W....Chung J.H. (2009)
    9. Functional properties of missense variants of human tryptophan hydroxylase 2. (PubMed id 19319927)1, 2, 9 McKinney J.A....Haavik J. (2009)
    10. Common genetic variations in human brain-specific tryptophan hydroxylase-2 and response to antidepressant treatment. (PubMed id 18496129)1, 4, 9 Tzvetkov M.V....Kirchheiner J. (2008)

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     ANDOR
    Aliases
    Disorders
    Free Text  

      Query String
    PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section
    Entrez Gene: 121278 HGNC: 20692 AceView: TPH2 Ensembl:ENSG00000139287 euGenes: HUgn121278
    ECgene: TPH2 Kegg: 121278 H-InvDB: TPH2

    (According to HUGE)
    About This Section
      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
    Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
    About This Section
    NameDescription
    PharmGKB entry for TPH2 Pharmacogenomics, SNPs, Pathways
    GeneReviewshttp://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/TPH2

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section
    Patent Information for TPH2 gene:
    Search GeneIP for patents involving TPH2

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



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    About This Section

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