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TPH2 Gene

protein-coding   GIFtS: 62
GCID: GC12P072332

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)
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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: GC12P072284 GC12P072049 GC12P070618 GC12P069382


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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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 endogenous depression. 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 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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Regulatory elements:
   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 Chromatin IP Primers for TPH2

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing 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 GC12P072332:  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 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, 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., Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
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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: 

  • Modification sites at neXtProt
  • Modification sites at PhosphoSitePlus
  • Selected DME Specific Peptides for TPH2 (Q8IWU9) (see all 28)
     EFGLCKQ  IGLASLG  PQLEDVS  DALNKMN 


    See TPH2 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins: NP_775489.2  
    ENSEMBL proteins: 
     ENSP00000329093  
    Reactome Protein details: Q8IWU9

    TPH2 Human Recombinant Protein Products:

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    TPH2 Antibody Products:

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    Cloud-Clone Corp. CLIAs for TPH2


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

    Selected 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,
    transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    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:    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/body  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: Let us create your new Knockout/Knockin mouse model for TPH2
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    hsa-miR-141 hsa-miR-629 hsa-miR-200a hsa-miR-624 hsa-miR-338-3p hsa-miR-570
    SwitchGear 3'UTR luciferase reporter plasmidTPH2 3' UTR sequence
    Inhib. RNA
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    Predesigned siRNA for gene silencing in human, mouse, rat TPH2

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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for TPH2


    (According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    cytosol4
    nucleus3

    Gene Ontology (GO): 2 cellular component terms:    About this table

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

    TPH2 for ontologies           About GeneDecksing


    (SuperPaths according to PathCards, Pathways according to 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 QIAGEN, 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 Apr 2014 via Entrez Gene).
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    SuperPaths for TPH2 About   (see all 9)  
    See pathways by source

    SuperPathContained pathways About
    1Metabolism
    Metabolism0.38
    Metabolic pathways0.38
    2serotonin and melatonin biosynthesis
    serotonin and melatonin biosynthesis
    Serotonin and melatonin biosynthesis0.00
    3tryptophan utilization II
    tryptophan utilization II0.71
    tryptophan utilization I0.71
    4Monoamine Transport
    Monoamine Transport
    Serotonin Transporter Activity0.00
    5Metabolism of amino acids and derivatives
    Metabolism of amino acids and derivatives
    Amine-derived hormones0.00

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways


    Selected BioSystems Pathways for TPH2 (see all 6)
        SIDS Susceptibility Pathways
    Monoamine Transport
    serotonin and melatonin biosynthesis
    Serotonin Transporter Activity
    tryptophan utilization II


    1 Reactome Pathway for TPH2
        Serotonin and melatonin biosynthesis

    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

        Pathway & Disease-focused RT2 Profiler PCR Array including TPH2: 

              Amino Acid Metabolism I in human mouse rat

    Interactions:

        GeneGlobe Interaction Network for TPH2

    STRING Interaction Network Preview (showing 5 interactants - click image to see 13)

    Selected Interacting proteins for TPH2 (Q8IWU92, 3 ENSP000003290934) via UniProtKB, MINT, STRING, and/or I2D (see all 13)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    YWHAEP622582, 3, ENSP000002643354MINT-8008017 I2D: score=1 STRING: ENSP00000264335
    IDO1ENSP000002535134STRING: ENSP00000253513
    IL4I1ENSP000003425574STRING: ENSP00000342557
    WARSENSP000003474954STRING: ENSP00000347495
    WARS2ENSP000002355214STRING: ENSP00000235521
    About this table

    Gene Ontology (GO): Selected biological process terms (see all 15):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006950response to stress ----
    GO:0007623circadian rhythm IEA--
    GO:0008152metabolic process ----
    GO:0009072aromatic amino acid family metabolic process IEA--
    GO:0014823response to activity IEA--

    TPH2 for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
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    Browse Small Molecules at EMD Millipore
       Browse drugs & compounds from Enzo Life Sciences
      Browse compounds at ApexBio 

    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--
    alpha-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  



    TPH2 for compounds           About GeneDecksing



    (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,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
    Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, and/or QIAGEN )
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    REFSEQ mRNAs for TPH2 gene: 
    NM_173353.3  

    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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    SwitchGear 3'UTR luciferase reporter plasmidTPH2 3' UTR sequence
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      QuantiTect SYBR Green Assays in human, mouse, rat TPH2
      QuantiFast Probe-based Assays in human, mouse, rat TPH2

    6 AceView cDNA sequences:

    AY098914 NM_173353 BM466099 BG532070 AK094614 BG530287 

    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™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
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    TPH2 expression in normal human tissues (normalized intensities)
    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
     selected tissues (see all 2) fully expand
     
     Brain (Nervous System)    fully expand to see all 20 entries
             Thalamus
             Septum   
     
     Neural Tube (Nervous System)
             Metencephalon
    TPH2 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    TPH2 Protein Expression

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

        Pathway & Disease-focused RT2 Profiler 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)
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    This gene was present in the common ancestor of animals.

    Orthologs for TPH2 gene from Selected species (see all 13)    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
    tryptophan hydroxylase 2
    91(a)
    1 ↔ 1
    5(38551005-38659163)
    tropical clawed frog
    (Xenopus tropicalis)
    Amphibia tph21 tryptophan hydroxylase 2 74.16(n)
    80.82(a)
      100486097  XM_004912951.1  XP_004913008.1 
    zebrafish
    (Danio rerio)
    Actinopterygii tph21 tryptophan hydroxylase 2 (tryptophan 5-monooxygenase) 67.97(n)
    76.3(a)
      407712  NM_214795.1  NP_999960.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta Trh6
    Tryptophan hydroxylase
    46(a)
    1 → many
    3L(1190384-1193169)
    worm
    (Caenorhabditis elegans)
    Secernentea tph-11 tph-1 58.58(n)
    58.13(a)
      174227  NM_063183.4  NP_495584.4 


    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)
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    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), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
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    Selected SNPs for TPH2 (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--------
    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
    rs1851845561,2
    --72330870(+) ACTTAC/TGCGAC 1 -- us2k10--------
    rs1902476461,2
    --72330985(+) ATTACG/TTTTAA 1 -- us2k10--------
    rs1433444141,2
    C--72331073(+) TTCATC/TACATC 1 -- us2k10--------
    rs1172459141,2
    C,F--72331101(+) TATTAT/CTGTCA 1 -- us2k11Minor allele frequency- C:0.02NA 120

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

    Structural Variations
         Database of Genomic Variants (DGV) Selected 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
    Site Specific Mutation Identification with 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.)
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    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 coexistence 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

  • Selected diseases for TPH2 (see all 44):    
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    tryptophan hydroxylase deficiency    endogenous depression    tic disorder    borderline personality disorder
    advanced sleep phase syndrome    migraine without aura    attention deficit hyperactivity disorder    personality disorder
    anxiety disorder    panic disorder    obsessive-compulsive disorder    bipolar disorder
    paranoid schizophrenia    cocaine dependence    chronic fatigue syndrome    autistic disorder
    hepatopulmonary syndrome    mood disorder    bipolar i disorder    sudden infant death syndrome

    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

    Selected 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)
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    PubMed articles for TPH2 gene, integrated from 10 sources (see all 251):
    (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. (Biol. Psychiatry 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. (Gastroenterology 2007)
    3. Synthesis of serotonin by a second tryptophan hydroxylase isoform. (PubMed id 12511643)1, 2, 3 Walther D.J.... Bader M. (Science 2003)
    4. Alternative splicing and extensive RNA editing of human TPH2 transcripts. (PubMed id 20126463)1, 2, 9 Grohmann M.... Walther D.J. (PLoS ONE 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. (Arch. Gen. Psychiatry 2007)
    6. Simultaneous analysis of serotonin transporter, tryptophan hydroxylase 1 and 2 gene expression in the ventral prefrontal cortex of suicide victims. (PubMed id 20052688)1, 4, 9 Perroud N....Guipponi M. (Am. J. Med. Genet. B Neuropsychiatr. Genet. 2010)
    7. Population-specific functional variant of the TPH2 gene 2755C&gt;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. (Arch Womens Ment Health 2009)
    8. Involvement of tryptophan hydroxylase 2 (TPH2) gene polymorphisms in susceptibility to coronary artery lesions in Korean children with Kawasaki disease. (PubMed id 19763617)1, 4, 9 Park S.W....Chung J.H. (Eur. J. Pediatr. 2010)
    9. Functional properties of missense variants of human tryptophan hydroxylase 2. (PubMed id 19319927)1, 2, 9 McKinney J.A.... Haavik J. (Hum. Mutat. 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. (Pharmacogenet. Genomics 2008)

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

      Query String
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    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)
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    Entrez Gene: 121278 HGNC: 20692 AceView: TPH2 Ensembl:ENSG00000139287 euGenes: HUgn121278
    ECgene: TPH2 Kegg: 121278 H-InvDB: TPH2

    (According to HUGE)
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      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
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    NameDescription
    PharmGKB entry for TPH2 Pharmacogenomics, SNPs, Pathways
    GeneReviewshttp://www.ncbi.nlm.nih.gov/books/NBK1116/?term=TPH2[genesymbol]

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
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    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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