TPH2 tryptophan hydroxylase 2 [Homo sapiens (human)] - Gene

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: mouse all
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Genomic context

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_000012.12 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

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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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

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.
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.
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.
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.
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).
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.
Sex-dependent complex association of TPH2 with multiple dimensions of ADHD.
Title: Sex-dependent complex association of TPH2 with multiple dimensions of ADHD.
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.
Meta-analysis of association between TPH2 single nucleotide poiymorphism and depression.
Title: Meta-analysis of association between TPH2 single nucleotide poiymorphism and depression.
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	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 EBI GWAS CatalogPubMed

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

NoName (e-PCR)
- UniSTS:481285

NoName (e-PCR)
- UniSTS:490033

D12S1318 (e-PCR)
- UniSTS:10300

NoName (e-PCR)
- UniSTS:482184

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

EC 1.14.16.4

XP_054227052.1

EC 1.14.16.4

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

NG_008279.1 RefSeqGene

Range

5000..98595

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

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