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    TPH2 tryptophan hydroxylase 2 [ Homo sapiens (human) ]

    Gene ID: 121278, updated on 14-Aug-2016
    Official Symbol
    TPH2provided by HGNC
    Official Full Name
    tryptophan hydroxylase 2provided by HGNC
    Primary source
    HGNC:HGNC:20692
    See related
    Ensembl:ENSG00000139287 HPRD:09594; MIM:607478; Vega:OTTHUMG00000169677
    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]
    Orthologs
    Location:
    12q21.1
    Exon count:
    13
    Annotation release Status Assembly Chr Location
    108 current GRCh38.p7 (GCF_000001405.33) 12 NC_000012.12 (71938846..72032441)
    105 previous assembly GRCh37.p13 (GCF_000001405.25) 12 NC_000012.11 (72332626..72426221)

    Chromosome 12 - NC_000012.12Genomic Context describing neighboring genes Neighboring gene RAB21, member RAS oncogene family Neighboring gene TBC1 domain family member 15 Neighboring gene MRS2 pseudogene 2 Neighboring gene thyrotropin releasing hormone degrading enzyme Neighboring gene TRHDE antisense RNA 1 Neighboring gene coiled-coil-helix-coiled-coil-helix domain containing 3 pseudogene 2

    GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

    Associated conditions

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

    NHGRI GWAS Catalog

    Description
    Genome-wide search for gene-gene interactions in colorectal cancer.
    NHGRI GWA Catalog

    Markers

    Homology

    Clone Names

    • FLJ37295, MGC138871, MGC138872

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    amino acid binding IEA
    Inferred from Electronic Annotation
    more info
     
    iron ion binding IEA
    Inferred from Electronic Annotation
    more info
     
    tryptophan 5-monooxygenase activity IEA
    Inferred from Electronic Annotation
    more info
     
    Process Evidence Code Pubs
    aromatic amino acid family metabolic process IEA
    Inferred from Electronic Annotation
    more info
     
    cellular response to lithium ion IEA
    Inferred from Electronic Annotation
    more info
     
    circadian rhythm IEA
    Inferred from Electronic Annotation
    more info
     
    indolalkylamine biosynthetic process TAS
    Traceable Author Statement
    more info
     
    oxidation-reduction process IEA
    Inferred from Electronic Annotation
    more info
     
    response to activity IEA
    Inferred from Electronic Annotation
    more info
     
    response to calcium ion IEA
    Inferred from Electronic Annotation
    more info
     
    response to estrogen IEA
    Inferred from Electronic Annotation
    more info
     
    response to glucocorticoid IEA
    Inferred from Electronic Annotation
    more info
     
    response to nutrient levels IEA
    Inferred from Electronic Annotation
    more info
     
    serotonin biosynthetic process IEA
    Inferred from Electronic Annotation
    more info
     
    Component Evidence Code Pubs
    cytosol TAS
    Traceable Author Statement
    more info
     
    neuron projection IEA
    Inferred from Electronic Annotation
    more info
     
    Preferred Names
    tryptophan 5-hydroxylase 2
    Names
    neuronal tryptophan hydroxylase
    tryptophan 5-monooxygenase 2
    NP_775489.2

    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
      5001..98596
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_173353.3NP_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
      Q8IWU9
      Related
      ENSP00000329093, OTTHUMP00000241772, ENST00000333850, OTTHUMT00000405234
      Conserved Domains (3) summary
      TIGR01270
      Location:52485
      Trp_5_monoox; tryptophan 5-monooxygenase, tetrameric
      cd03346
      Location:152438
      eu_TrpOH; Eukaryotic tryptophan hydroxylase (TrpOH); a member of the biopterin-dependent aromatic amino acid hydroxylase family of non-heme, iron(II)-dependent enzymes that also includes prokaryotic and eukaryotic phenylalanine-4-hydroxylase (PheOH) and eukaryotic ...
      cl09141
      Location:64137
      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: Homo sapiens Annotation Release 108 details...

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

    Reference GRCh38.p7 Primary Assembly

    Genomic

    1. NC_000012.12 Reference GRCh38.p7 Primary Assembly

      Range
      71938846..72032441
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    RNA

    1. XR_001748575.1 RNA Sequence

      Related
      ENST00000546576

    Alternate CHM1_1.1

    Genomic

    1. NC_018923.2 Alternate CHM1_1.1

      Range
      72299779..72391813
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)