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TPH2 tryptophan hydroxylase 2 [ Homo sapiens (human) ]

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

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Go to nucleotide: Graphics FASTA GenBank

Expression

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  • 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

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Related articles in PubMed

  1. 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. Akhrif A, et al. PLoS One, 2023. PMID 37104367, Free PMC Article
  2. Influence and interaction of resting state functional magnetic resonance and tryptophan hydroxylase-2 methylation on short-term antidepressant drug response. Tan T, et al. BMC Psychiatry, 2022 Mar 25. PMID 35337298, Free PMC Article
  3. Meta-analysis of association between TPH2 single nucleotide poiymorphism and depression. Liu ZL, et al. Neurosci Biobehav Rev, 2022 Mar. PMID 34979191
  4. Identifying patients with major depressive disorder based on tryptophan hydroxylase-2 methylation using machine learning algorithms. Fan R, et al. Psychiatry Res, 2021 Dec. PMID 34749226
  5. Sex-dependent complex association of TPH2 with multiple dimensions of ADHD. Fageera W, et al. Prog Neuropsychopharmacol Biol Psychiatry, 2021 Aug 30. PMID 33677046

See all (289) 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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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

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
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

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_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_054371077.1 → 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

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