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    TPH2 tryptophan hydroxylase 2 [ Homo sapiens (human) ]

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

    Summary

    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
    NEW
    Try the new Gene table
    Try the new Transcript table

    Genomic context

    See TPH2 in Genome Data Viewer
    Location:
    12q21.1
    Exon count:
    13
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 12 NC_000012.12 (71938845..72032440)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 12 NC_060936.1 (71916323..72008338)
    105.20220307 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

    Expression

    • Project title: 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

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Phenotypes

    Associated conditions

    Description Tests
    Attention deficit-hyperactivity disorder, susceptibility to, 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
    not available

    EBI GWAS Catalog

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

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    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

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

    NCBI Reference Sequences (RefSeq)

    NEW Try the new Transcript table

    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_173353.4NP_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:52485
      Trp_5_monoox; tryptophan 5-monooxygenase, tetrameric
      pfam00351
      Location:152482
      Biopterin_H; Biopterin-dependent aromatic amino acid hydroxylase
      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: GCF_000001405.40-RS_2023_10

    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_054371077.1XP_054227052.1  tryptophan 5-hydroxylase 2 isoform X1