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TPH2 tryptophan hydroxylase 2 [ Homo sapiens (human) ]

Gene ID: 121278, updated on 17-Jun-2019

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
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

Genomic context

See TPH2 in Genome Data Viewer
Location:
12q21.1
Exon count:
13
Annotation release Status Assembly Chr Location
109.20190607 current GRCh38.p13 (GCF_000001405.39) 12 NC_000012.12 (71938845..72032440)
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 Sharpr-MPRA regulatory region 15256 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

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 FunctionsWhat's a GeneRIF?

Phenotypes

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
not available

NHGRI GWAS Catalog

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

Pathways from BioSystems

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • FLJ37295, MGC138871, MGC138872

Gene Ontology Provided by GOA

Function Evidence Code Pubs
iron ion binding IEA
Inferred from Electronic Annotation
more info
 
tryptophan 5-monooxygenase activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
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 IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 

General protein information

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

NCBI Reference Sequences (RefSeq)

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_173353.4NP_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
    Q8IWU9
    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: Homo sapiens Annotation Release 109

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000012.12 Reference GRCh38.p13 Primary Assembly

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

RNA

  1. XR_001748575.1 RNA Sequence

    Related
    ENST00000546576.1
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