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    TPH2 tryptophan hydroxylase 2 [ Homo sapiens (human) ]

    Gene ID: 121278, updated on 3-Nov-2024

    Summary

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    Official Symbol
    TPH2provided by HGNC
    Official Full Name
    tryptophan hydroxylase 2provided by HGNC
    Primary source
    HGNC:HGNC:20692
    See related
    Ensembl:ENSG00000139287 MIM:607478; AllianceGenome:HGNC:20692
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    NTPH; ADHD7
    Summary
    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]
    Expression
    Low expression observed in reference dataset See more
    Orthologs
    mouse all
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    Genomic context

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    See TPH2 in Genome Data Viewer
    Location:
    12q21.1
    Exon count:
    13
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 12 NC_000012.12 (71938845..72032440)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 12 NC_060936.1 (71916323..72008338)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 12 NC_000012.11 (72332625..72426220)

    Chromosome 12 - NC_000012.12Genomic Context describing neighboring genes Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 4659 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 6664 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 6663 Neighboring gene RAB21, member RAS oncogene family Neighboring gene MPRA-validated peak1826 silencer Neighboring gene Sharpr-MPRA regulatory region 15327 Neighboring gene TBC1 domain family member 15 Neighboring gene MRS2 pseudogene 2 Neighboring gene ReSE screen-validated silencer GRCh37_chr12:72332491-72332790 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr12:72342997-72343855 Neighboring gene NANOG hESC enhancer GRCh37_chr12:72352432-72352933 Neighboring gene Sharpr-MPRA regulatory region 15256 Neighboring gene NANOG hESC enhancer GRCh37_chr12:72431129-72431630 Neighboring gene thyrotropin releasing hormone degrading enzyme Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr12:72608405-72609204 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr12:72609205-72610002 Neighboring gene TRHDE antisense RNA 1 Neighboring gene H3 histone pseudogene 35

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: HPA RNA-seq normal tissues HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Apr 4 07:08:55 2018

    Bibliography

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    Related articles in PubMed

    1. Exploration of a possible association between the tryptophan hydroxylase 2 (TPH2) gene and panic symptoms induced by carbon dioxide in healthy individuals. Abe R, et al. Psychiatry Res, 2012 May 30. PMID 22365257
    2. Tryptophan hydroxylase 2 gene polymorphisms and poststroke anxiety disorders. Chi S, et al. J Affect Disord, 2013 Jan 10. PMID 22835848
    3. Genetic variants in the tryptophan hydroxylase 2 gene (TPH2) and depression during and after pregnancy. Fasching PA, et al. J Psychiatr Res, 2012 Sep. PMID 22721547
    4. Association with tryptophan hydroxylase 2 gene polymorphisms and autism spectrum disorders in Korean families. Yang SY, et al. Neurosci Res, 2012 Aug. PMID 22698779
    5. Brain-specific tryptophan hydroxylase 2 (TPH2): a functional Pro206Ser substitution and variation in the 5'-region are associated with bipolar affective disorder. Cichon S, et al. Hum Mol Genet, 2008 Jan 1. PMID 17905754

    See all (294) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Interaction between childhood trauma experience and TPH2 rs7305115 gene polymorphism in brain gray matter volume.
      Title: Interaction between childhood trauma experience and TPH2 rs7305115 gene polymorphism in brain gray matter volume.
    2. TPH2-703 G/T polymorphism is associated with stress, depression, and psychosocial symptoms in mentally healthy Mexicans.
      Title: TPH2-703 G/T polymorphism is associated with stress, depression, and psychosocial symptoms in mentally healthy Mexicans.
    3. Influence of TPH2 and HTR1A polymorphisms on lifelong premature ejaculation risk among the chinese Han population.
      Title: Influence of TPH2 and HTR1A polymorphisms on lifelong premature ejaculation risk among the chinese Han population.
    4. Serotonergic 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.
      Title: Serotonergic 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.
    5. HTR1A, 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-alpha2a and Oral Ribavirin (PEG-IFN-alpha2a/RBV).
      Title: HTR1A, 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).
    6. Influence and interaction of resting state functional magnetic resonance and tryptophan hydroxylase-2 methylation on short-term antidepressant drug response.
      Title: Influence and interaction of resting state functional magnetic resonance and tryptophan hydroxylase-2 methylation on short-term antidepressant drug response.
    7. Sex-dependent complex association of TPH2 with multiple dimensions of ADHD.
      Title: Sex-dependent complex association of TPH2 with multiple dimensions of ADHD.
    8. Identifying patients with major depressive disorder based on tryptophan hydroxylase-2 methylation using machine learning algorithms.
      Title: Identifying patients with major depressive disorder based on tryptophan hydroxylase-2 methylation using machine learning algorithms.
    9. Meta-analysis of association between TPH2 single nucleotide poiymorphism and depression.
      Title: Meta-analysis of association between TPH2 single nucleotide poiymorphism and depression.
    10. Serotonin and early life stress interact to shape brain architecture and anxious avoidant behavior - a TPH2 imaging genetics approach.
      Title: Serotonin and early life stress interact to shape brain architecture and anxious avoidant behavior - a TPH2 imaging genetics approach.
    Submit: New GeneRIF Correction See all GeneRIFs (244)

    Phenotypes

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    Review eQTL and phenotype association data in this region using PheGenI

    Associated conditions

    Description Tests
    Attention deficit-hyperactivity disorder, susceptibility to, 7
    MedGen: C2751802 OMIM: 613003 GeneReviews: Not available
    		not available
    Major depressive disorder
    MedGen: C1269683 OMIM: 608516 GeneReviews: Not available
    		not available
    Tryptophan 5-monooxygenase deficiency
    MedGen: CN120491 GeneReviews: Not available
    		not available

    EBI GWAS Catalog

    Description
    Genome-wide search for gene-gene interactions in colorectal cancer.
    EBI GWAS Catalog

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Genotypes

    Pathways from PubChem

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    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Clone Names

    • FLJ37295, MGC138871, MGC138872

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables iron ion binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables tryptophan 5-monooxygenase activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables tryptophan 5-monooxygenase activity IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in aromatic amino acid metabolic process IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in serotonin biosynthetic process IEA
    Inferred from Electronic Annotation
    more info
    		  
    Component Evidence Code Pubs
    located_in cytosol TAS
    Traceable Author Statement
    more info
    		  
    is_active_in neuron projection IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  

    General protein information

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    Preferred Names
    tryptophan 5-hydroxylase 2
    Names
    neuronal tryptophan hydroxylase
    tryptophan 5-monooxygenase 2
    NP_775489.2
    XP_054227052.1

    NCBI Reference Sequences (RefSeq)

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    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    Genomic

    1. NG_008279.1 RefSeqGene

      Range
      5000..98595
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_173353.4 → NP_775489.2  tryptophan 5-hydroxylase 2

      See identical proteins and their annotated locations for NP_775489.2

      Status: REVIEWED

      Source sequence(s)
      AC090109, AY098914
      Consensus CDS
      CCDS31859.1
      UniProtKB/Swiss-Prot
      A6NGA4, Q14CB0, Q8IWU9
      UniProtKB/TrEMBL
      Q14CC5
      Related
      ENSP00000329093.3, ENST00000333850.4
      Conserved Domains (3) summary
      TIGR01270
      Location:52 → 485
      Trp_5_monoox; tryptophan 5-monooxygenase, tetrameric
      pfam00351
      Location:152 → 482
      Biopterin_H; Biopterin-dependent aromatic amino acid hydroxylase
      cl09141
      Location:64 → 137
      ACT; ACT domains are commonly involved in specifically binding an amino acid or other small ligand leading to regulation of the enzyme

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000012.12 Reference GRCh38.p14 Primary Assembly

      Range
      71938845..72032440
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    RNA

    1. XR_001748575.2 RNA Sequence

      Related
      ENST00000546576.1

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060936.1 Alternate T2T-CHM13v2.0

      Range
      71916323..72008338
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054371077.1 → XP_054227052.1  tryptophan 5-hydroxylase 2 isoform X1

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q8IWU9.1 GenPept UniProtKB/Swiss-Prot:Q8IWU9

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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