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Entry version 148 (13 Feb 2019)
Sequence version 1 (01 Mar 2003)
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Protein

Tryptophan 5-hydroxylase 2

Gene

TPH2

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score:

Annotation score:5 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
-Experimental evidence at protein leveli <p>This indicates the type of evidence that supports the existence of the protein. Note that the ‘protein existence’ evidence does not give information on the accuracy or correctness of the sequence(s) displayed.<p><a href='/help/protein_existence' target='_top'>More...</a></p>

<p>This section provides any useful information about the protein, mostly biological knowledge.<p><a href='/help/function_section' target='_top'>More...</a></p>Functioni

<p>This subsection of the <a href="http://www.uniprot.org/help/function_section">Function</a> section describes the catalytic activity of an enzyme, i.e. a chemical reaction that the enzyme catalyzes.<p><a href='/help/catalytic_activity' target='_top'>More...</a></p>Catalytic activityi

<p>This subsection of the ‘Function’ section provides information relevant to cofactors. A cofactor is any non-protein substance required for a protein to be catalytically active. Some cofactors are inorganic, such as the metal atoms zinc, iron, and copper in various oxidation states. Others, such as most vitamins, are organic.<p><a href='/help/cofactor' target='_top'>More...</a></p>Cofactori

Fe2+By similarity

<p>This subsection of the ‘Function’ section describes biophysical and chemical properties, such as maximal absorption, kinetic parameters, pH dependence, redox potentials and temperature dependence.<p><a href='/help/biophysicochemical_properties' target='_top'>More...</a></p>Kineticsi

  1. KM=41.3 µM for L-tryptophan1 Publication
  1. Vmax=833 nmol/min/mg enzyme1 Publication

<p>This subsection of the <a href="http://www.uniprot.org/help/function_section">'Function'</a> section describes the metabolic pathway(s) associated with a protein.<p><a href='/help/pathway' target='_top'>More...</a></p>Pathwayi: serotonin biosynthesis

This protein is involved in step 1 of the subpathway that synthesizes serotonin from L-tryptophan.
Proteins known to be involved in the 2 steps of the subpathway in this organism are:
  1. Tryptophan 5-hydroxylase 1 (TPH1), Tryptophan 5-hydroxylase 2 (TPH2)
  2. no protein annotated in this organism
This subpathway is part of the pathway serotonin biosynthesis, which is itself part of Aromatic compound metabolism.
View all proteins of this organism that are known to be involved in the subpathway that synthesizes serotonin from L-tryptophan, the pathway serotonin biosynthesis and in Aromatic compound metabolism.

Sites

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Function’ section indicates at which position the protein binds a given metal ion. The nature of the metal is indicated in the ‘Description’ field.<p><a href='/help/metal' target='_top'>More...</a></p>Metal bindingi318IronBy similarity1
Metal bindingi323IronBy similarity1
Metal bindingi363IronBy similarity1

<p>The <a href="http://www.geneontology.org/">Gene Ontology (GO)</a> project provides a set of hierarchical controlled vocabulary split into 3 categories:<p><a href='/help/gene_ontology' target='_top'>More...</a></p>GO - Molecular functioni

  • iron ion binding Source: InterPro
  • tryptophan 5-monooxygenase activity Source: GO_Central

GO - Biological processi

<p>UniProtKB Keywords constitute a <a href="http://www.uniprot.org/keywords">controlled vocabulary</a> with a hierarchical structure. Keywords summarise the content of a UniProtKB entry and facilitate the search for proteins of interest.<p><a href='/help/keywords' target='_top'>More...</a></p>Keywordsi

Molecular functionMonooxygenase, Oxidoreductase
Biological processSerotonin biosynthesis
LigandIron, Metal-binding

Enzyme and pathway databases

BioCyc Collection of Pathway/Genome Databases

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BioCyci
MetaCyc:HS06603-MONOMER

BRENDA Comprehensive Enzyme Information System

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BRENDAi
1.14.16.4 2681

Reactome - a knowledgebase of biological pathways and processes

More...
Reactomei
R-HSA-209931 Serotonin and melatonin biosynthesis

SABIO-RK: Biochemical Reaction Kinetics Database

More...
SABIO-RKi
Q8IWU9

SIGNOR Signaling Network Open Resource

More...
SIGNORi
Q8IWU9

UniPathway: a resource for the exploration and annotation of metabolic pathways

More...
UniPathwayi
UPA00846;UER00799

<p>This section provides information about the protein and gene name(s) and synonym(s) and about the organism that is the source of the protein sequence.<p><a href='/help/names_and_taxonomy_section' target='_top'>More...</a></p>Names & Taxonomyi

<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section provides an exhaustive list of all names of the protein, from commonly used to obsolete, to allow unambiguous identification of a protein.<p><a href='/help/protein_names' target='_top'>More...</a></p>Protein namesi
Recommended name:
Tryptophan 5-hydroxylase 2 (EC:1.14.16.4)
Alternative name(s):
Neuronal tryptophan hydroxylase
Tryptophan 5-monooxygenase 2
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section indicates the name(s) of the gene(s) that code for the protein sequence(s) described in the entry. Four distinct tokens exist: ‘Name’, ‘Synonyms’, ‘Ordered locus names’ and ‘ORF names’.<p><a href='/help/gene_name' target='_top'>More...</a></p>Gene namesi
Name:TPH2
Synonyms:NTPH
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section provides information on the name(s) of the organism that is the source of the protein sequence.<p><a href='/help/organism-name' target='_top'>More...</a></p>OrganismiHomo sapiens (Human)
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section shows the unique identifier assigned by the NCBI to the source organism of the protein. This is known as the ‘taxonomic identifier’ or ‘taxid’.<p><a href='/help/taxonomic_identifier' target='_top'>More...</a></p>Taxonomic identifieri9606 [NCBI]
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section contains the taxonomic hierarchical classification lineage of the source organism. It lists the nodes as they appear top-down in the taxonomic tree, with the more general grouping listed first.<p><a href='/help/taxonomic_lineage' target='_top'>More...</a></p>Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section is present for entries that are part of a <a href="http://www.uniprot.org/proteomes">proteome</a>, i.e. of a set of proteins thought to be expressed by organisms whose genomes have been completely sequenced.<p><a href='/help/proteomes_manual' target='_top'>More...</a></p>Proteomesi
  • UP000005640 <p>A UniProt <a href="http://www.uniprot.org/manual/proteomes_manual">proteome</a> can consist of several components. <br></br>The component name refers to the genomic component encoding a set of proteins.<p><a href='/help/proteome_component' target='_top'>More...</a></p> Componenti: Chromosome 12

Organism-specific databases

Eukaryotic Pathogen Database Resources

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EuPathDBi
HostDB:ENSG00000139287.12

Human Gene Nomenclature Database

More...
HGNCi
HGNC:20692 TPH2

Online Mendelian Inheritance in Man (OMIM)

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MIMi
607478 gene

neXtProt; the human protein knowledge platform

More...
neXtProti
NX_Q8IWU9

<p>This section provides information on the location and the topology of the mature protein in the cell.<p><a href='/help/subcellular_location_section' target='_top'>More...</a></p>Subcellular locationi

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte & Seán O’Donoghue; Source: COMPARTMENTS

<p>This section provides information on the disease(s) and phenotype(s) associated with a protein.<p><a href='/help/pathology_and_biotech_section' target='_top'>More...</a></p>Pathology & Biotechi

<p>This subsection of the ‘Pathology and Biotech’ section provides information on the disease(s) associated with genetic variations in a given protein. The information is extracted from the scientific literature and diseases that are also described in the <a href="http://www.ncbi.nlm.nih.gov/sites/entrez?db=omim">OMIM</a> database are represented with a <a href="http://www.uniprot.org/diseases">controlled vocabulary</a> in the following way:<p><a href='/help/involvement_in_disease' target='_top'>More...</a></p>Involvement in diseasei

Major depressive disorder (MDD)1 Publication
Disease susceptibility is associated with variations affecting the gene represented in this entry.
Disease descriptionA common psychiatric disorder. It is a complex trait characterized by one or more major depressive episodes without a history of manic, mixed, or hypomanic episodes. A major depressive episode is characterized by at least 2 weeks during which there is a new onset or clear worsening of either depressed mood or loss of interest or pleasure in nearly all activities. Four additional symptoms must also be present including changes in appetite, weight, sleep, and psychomotor activity; decreased energy; feelings of worthlessness or guilt; difficulty thinking, concentrating, or making decisions; or recurrent thoughts of death or suicidal ideation, plans, or attempts. The episode must be accompanied by distress or impairment in social, occupational, or other important areas of functioning.
See also OMIM:608516
Attention deficit-hyperactivity disorder 7 (ADHD7)1 Publication
Disease susceptibility is associated with variations affecting the gene represented in this entry. Naturally occurring variants of TPH2 with impaired enzyme activity could cause deficiency of serotonin production and result in an increased risk of developing behavioral disorders.
Disease descriptionA neurobehavioral developmental disorder primarily characterized by the coexistence of attentional problems and hyperactivity, with each behavior occurring infrequently alone.
See also OMIM:613003
Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_058942303R → W in ADHD7; has severely reduced solubility; is completely inactive; loss of function may lead to a reduced serotonin synthesis. 2 PublicationsCorresponds to variant dbSNP:rs120074176EnsemblClinVar.1

Keywords - Diseasei

Disease mutation

Organism-specific databases

DisGeNET

More...
DisGeNETi
121278

MalaCards human disease database

More...
MalaCardsi
TPH2
MIMi608516 phenotype
613003 phenotype

Open Targets

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OpenTargetsi
ENSG00000139287

The Pharmacogenetics and Pharmacogenomics Knowledge Base

More...
PharmGKBi
PA128747823

Chemistry databases

ChEMBL database of bioactive drug-like small molecules

More...
ChEMBLi
CHEMBL5433

Drug and drug target database

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DrugBanki
DB00150 L-Tryptophan
DB12095 Telotristat

Polymorphism and mutation databases

BioMuta curated single-nucleotide variation and disease association database

More...
BioMutai
TPH2

Domain mapping of disease mutations (DMDM)

More...
DMDMi
30580625

<p>This section describes post-translational modifications (PTMs) and/or processing events.<p><a href='/help/ptm_processing_section' target='_top'>More...</a></p>PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘PTM / Processing’ section describes the extent of a polypeptide chain in the mature protein following processing.<p><a href='/help/chain' target='_top'>More...</a></p>ChainiPRO_00002055741 – 490Tryptophan 5-hydroxylase 2Add BLAST490

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘PTM / Processing’ section specifies the position and type of each modified residue excluding <a href="http://www.uniprot.org/manual/lipid">lipids</a>, <a href="http://www.uniprot.org/manual/carbohyd">glycans</a> and <a href="http://www.uniprot.org/manual/crosslnk">protein cross-links</a>.<p><a href='/help/mod_res' target='_top'>More...</a></p>Modified residuei19PhosphoserineBy similarity1

Keywords - PTMi

Phosphoprotein

Proteomic databases

jPOST - Japan Proteome Standard Repository/Database

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jPOSTi
Q8IWU9

PaxDb, a database of protein abundance averages across all three domains of life

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PaxDbi
Q8IWU9

PeptideAtlas

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PeptideAtlasi
Q8IWU9

PRoteomics IDEntifications database

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PRIDEi
Q8IWU9

ProteomicsDB human proteome resource

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ProteomicsDBi
70900
70901 [Q8IWU9-2]

PTM databases

iPTMnet integrated resource for PTMs in systems biology context

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iPTMneti
Q8IWU9

Comprehensive resource for the study of protein post-translational modifications (PTMs) in human, mouse and rat.

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PhosphoSitePlusi
Q8IWU9

<p>This section provides information on the expression of a gene at the mRNA or protein level in cells or in tissues of multicellular organisms.<p><a href='/help/expression_section' target='_top'>More...</a></p>Expressioni

<p>This subsection of the ‘Expression’ section provides information on the expression of a gene at the mRNA or protein level in cells or in tissues of multicellular organisms. By default, the information is derived from experiments at the mRNA level, unless specified ‘at protein level’. <br></br>Examples: <a href="http://www.uniprot.org/uniprot/P92958#expression">P92958</a>, <a href="http://www.uniprot.org/uniprot/Q8TDN4#expression">Q8TDN4</a>, <a href="http://www.uniprot.org/uniprot/O14734#expression">O14734</a><p><a href='/help/tissue_specificity' target='_top'>More...</a></p>Tissue specificityi

Brain specific.

Gene expression databases

Bgee dataBase for Gene Expression Evolution

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Bgeei
ENSG00000139287 Expressed in 37 organ(s), highest expression level in secondary oocyte

Genevisible search portal to normalized and curated expression data from Genevestigator

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Genevisiblei
Q8IWU9 HS

Organism-specific databases

Human Protein Atlas

More...
HPAi
CAB078198
HPA046274

<p>This section provides information on the quaternary structure of a protein and on interaction(s) with other proteins or protein complexes.<p><a href='/help/interaction_section' target='_top'>More...</a></p>Interactioni

Protein-protein interaction databases

The Biological General Repository for Interaction Datasets (BioGrid)

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BioGridi
125720, 2 interactors

Protein interaction database and analysis system

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IntActi
Q8IWU9, 1 interactor

Molecular INTeraction database

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MINTi
Q8IWU9

STRING: functional protein association networks

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STRINGi
9606.ENSP00000329093

Chemistry databases

BindingDB database of measured binding affinities

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BindingDBi
Q8IWU9

<p>This section provides information on the tertiary and secondary structure of a protein.<p><a href='/help/structure_section' target='_top'>More...</a></p>Structurei

Secondary structure

1490
Legend: HelixTurnBeta strandPDB Structure known for this area
Show more details

3D structure databases

Select the link destinations:

Protein Data Bank Europe

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PDBei

Protein Data Bank RCSB

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RCSB PDBi

Protein Data Bank Japan

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PDBji
Links Updated
PDB entryMethodResolution (Å)ChainPositionsPDBsum
4V06X-ray2.63A/B148-490[»]

Protein Model Portal of the PSI-Nature Structural Biology Knowledgebase

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ProteinModelPortali
Q8IWU9

SWISS-MODEL Repository - a database of annotated 3D protein structure models

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SMRi
Q8IWU9

Database of comparative protein structure models

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ModBasei
Search...

MobiDB: a database of protein disorder and mobility annotations

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MobiDBi
Search...

<p>This section provides information on sequence similarities with other proteins and the domain(s) present in a protein.<p><a href='/help/family_and_domains_section' target='_top'>More...</a></p>Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/help/family_and_domains_section">Family and Domains</a> section describes the position and type of a domain, which is defined as a specific combination of secondary structures organized into a characteristic three-dimensional structure or fold.<p><a href='/help/domain' target='_top'>More...</a></p>Domaini65 – 140ACTPROSITE-ProRule annotationAdd BLAST76

<p>This subsection of the ‘Family and domains’ section provides information about the sequence similarity with other proteins.<p><a href='/help/sequence_similarities' target='_top'>More...</a></p>Sequence similaritiesi

Phylogenomic databases

evolutionary genealogy of genes: Non-supervised Orthologous Groups

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eggNOGi
KOG3820 Eukaryota
COG3186 LUCA

Ensembl GeneTree

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GeneTreei
ENSGT00940000153696

The HOGENOM Database of Homologous Genes from Fully Sequenced Organisms

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HOGENOMi
HOG000233373

The HOVERGEN Database of Homologous Vertebrate Genes

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HOVERGENi
HBG006841

InParanoid: Eukaryotic Ortholog Groups

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InParanoidi
Q8IWU9

KEGG Orthology (KO)

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KOi
K00502

Identification of Orthologs from Complete Genome Data

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OMAi
SMVHIES

Database of Orthologous Groups

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OrthoDBi
614557at2759

Database for complete collections of gene phylogenies

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PhylomeDBi
Q8IWU9

TreeFam database of animal gene trees

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TreeFami
TF313327

Family and domain databases

Gene3D Structural and Functional Annotation of Protein Families

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Gene3Di
1.10.800.10, 1 hit

Integrated resource of protein families, domains and functional sites

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InterProi
View protein in InterPro
IPR002912 ACT_dom
IPR001273 ArAA_hydroxylase
IPR018301 ArAA_hydroxylase_Fe/CU_BS
IPR036951 ArAA_hydroxylase_sf
IPR036329 Aro-AA_hydroxylase_C_sf
IPR019774 Aromatic-AA_hydroxylase_C
IPR005963 Trp_5_mOase
IPR019773 Tyrosine_3-monooxygenase-like

The PANTHER Classification System

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PANTHERi
PTHR11473 PTHR11473, 2 hits

Pfam protein domain database

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Pfami
View protein in Pfam
PF00351 Biopterin_H, 1 hit

PIRSF; a whole-protein classification database

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PIRSFi
PIRSF000336 TH, 1 hit

Protein Motif fingerprint database; a protein domain database

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PRINTSi
PR00372 FYWHYDRXLASE

Superfamily database of structural and functional annotation

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SUPFAMi
SSF56534 SSF56534, 1 hit

TIGRFAMs; a protein family database

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TIGRFAMsi
TIGR01270 Trp_5_monoox, 1 hit

PROSITE; a protein domain and family database

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PROSITEi
View protein in PROSITE
PS51671 ACT, 1 hit
PS00367 BH4_AAA_HYDROXYL_1, 1 hit
PS51410 BH4_AAA_HYDROXYL_2, 1 hit

<p>This section displays by default the canonical protein sequence and upon request all isoforms described in the entry. It also includes information pertinent to the sequence(s), including <a href="http://www.uniprot.org/help/sequence_length">length</a> and <a href="http://www.uniprot.org/help/sequences">molecular weight</a>.<p><a href='/help/sequences_section' target='_top'>More...</a></p>Sequences (2)i

<p>This subsection of the <a href="http://www.uniprot.org/help/sequences_section">Sequence</a> section indicates if the <a href="http://www.uniprot.org/help/canonical_and_isoforms">canonical sequence</a> displayed by default in the entry is complete or not.<p><a href='/help/sequence_status' target='_top'>More...</a></p>Sequence statusi: Complete.

This entry describes 2 <p>This subsection of the ‘Sequence’ section lists the alternative protein sequences (isoforms) that can be generated from the same gene by a single or by the combination of up to four biological events (alternative promoter usage, alternative splicing, alternative initiation and ribosomal frameshifting). Additionally, this section gives relevant information on each alternative protein isoform.<p><a href='/help/alternative_products' target='_top'>More...</a></p> isoformsi produced by alternative splicing. AlignAdd to basket
Isoform a (identifier: Q8IWU9-1) [UniParc]FASTAAdd to basket

This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

« Hide
        10         20         30         40         50
MQPAMMMFSS KYWARRGFSL DSAVPEEHQL LGSSTLNKPN SGKNDDKGNK
60 70 80 90 100
GSSKREAATE SGKTAVVFSL KNEVGGLVKA LRLFQEKRVN MVHIESRKSR
110 120 130 140 150
RRSSEVEIFV DCECGKTEFN ELIQLLKFQT TIVTLNPPEN IWTEEEELED
160 170 180 190 200
VPWFPRKISE LDKCSHRVLM YGSELDADHP GFKDNVYRQR RKYFVDVAMG
210 220 230 240 250
YKYGQPIPRV EYTEEETKTW GVVFRELSKL YPTHACREYL KNFPLLTKYC
260 270 280 290 300
GYREDNVPQL EDVSMFLKER SGFTVRPVAG YLSPRDFLAG LAYRVFHCTQ
310 320 330 340 350
YIRHGSDPLY TPEPDTCHEL LGHVPLLADP KFAQFSQEIG LASLGASDED
360 370 380 390 400
VQKLATCYFF TIEFGLCKQE GQLRAYGAGL LSSIGELKHA LSDKACVKAF
410 420 430 440 450
DPKTTCLQEC LITTFQEAYF VSESFEEAKE KMRDFAKSIT RPFSVYFNPY
460 470 480 490
TQSIEILKDT RSIENVVQDL RSDLNTVCDA LNKMNQYLGI
Length:490
Mass (Da):56,057
Last modified:March 1, 2003 - v1
<p>The checksum is a form of redundancy check that is calculated from the sequence. It is useful for tracking sequence updates.</p> <p>It should be noted that while, in theory, two different sequences could have the same checksum value, the likelihood that this would happen is extremely low.</p> <p>However UniProtKB may contain entries with identical sequences in case of multiple genes (paralogs).</p> <p>The checksum is computed as the sequence 64-bit Cyclic Redundancy Check value (CRC64) using the generator polynomial: x<sup>64</sup> + x<sup>4</sup> + x<sup>3</sup> + x + 1. The algorithm is described in the ISO 3309 standard. </p> <p class="publication">Press W.H., Flannery B.P., Teukolsky S.A. and Vetterling W.T.<br /> <strong>Cyclic redundancy and other checksums</strong><br /> <a href="http://www.nrbook.com/b/bookcpdf.php">Numerical recipes in C 2nd ed., pp896-902, Cambridge University Press (1993)</a>)</p> Checksum:i753645E6E0CE430B
GO
Isoform b (identifier: Q8IWU9-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     147-147: E → GKE

Show »
Length:492
Mass (Da):56,242
Checksum:i5B90CB629F9F6DD6
GO

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Sequence’ section reports difference(s) between the canonical sequence (displayed by default in the entry) and the different sequence submissions merged in the entry. These various submissions may originate from different sequencing projects, different types of experiments, or different biological samples. Sequence conflicts are usually of unknown origin.<p><a href='/help/conflict' target='_top'>More...</a></p>Sequence conflicti53S → N in AAI14500 (PubMed:15489334).Curated1

<p>This subsection of the ‘Sequence’ section provides information relevant to all types of RNA editing events (conversion, insertion, deletion of nucleotides) that lead to one or more amino acid changes compared to the translation of the non-edited RNA version.<p><a href='/help/rna_editing' target='_top'>More...</a></p>RNA editingi

Edited at positions 433, 441 and 468.1 Publication
Modulates the kinetic properties of both isoforms.

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_05893836L → P The property of the variant is indistinguishable from the wild-type. 1 PublicationCorresponds to variant dbSNP:rs199775778Ensembl.1
Natural variantiVAR_05893936L → V The property of the variant is indistinguishable from the wild-type. 1 PublicationCorresponds to variant dbSNP:rs34115267Ensembl.1
Natural variantiVAR_05894041S → Y The property of the variant is indistinguishable from the wild-type. 1 PublicationCorresponds to variant dbSNP:rs78162420EnsemblClinVar.1
Natural variantiVAR_05894155R → C The property of the variant is indistinguishable from the wild-type. 1 PublicationCorresponds to variant dbSNP:rs75558144Ensembl.1
Natural variantiVAR_046136206P → S May be associated with susceptibility to bipolar affective disorder; decreases solubility; decreases thermal stability; catalytic activity as the wild type; moderate loss-of-function observed manifested via stability and solubility effect. 2 PublicationsCorresponds to variant dbSNP:rs17110563EnsemblClinVar.1
Natural variantiVAR_058942303R → W in ADHD7; has severely reduced solubility; is completely inactive; loss of function may lead to a reduced serotonin synthesis. 2 PublicationsCorresponds to variant dbSNP:rs120074176EnsemblClinVar.1
Natural variantiVAR_058943328A → V Moderate loss-of-function observed manifested via stability and solubility effect. 1 PublicationCorresponds to variant dbSNP:rs2887147Ensembl.1
Natural variantiVAR_065019433R → G in RNA edited version. 1
Natural variantiVAR_026749441R → H Functional polymorphism linked with susceptibility to major depressive disorder; may be due to a rare RNA editing event; 80% loss of function; decreases solubility; decreases thermal stability; reduces catalytic activity. 3 PublicationsCorresponds to variant dbSNP:rs120074175EnsemblClinVar.1
Natural variantiVAR_065020468Q → R in RNA edited version. Corresponds to variant dbSNP:rs1317926854Ensembl.1
Natural variantiVAR_058944479D → E Moderate loss-of-function observed manifested via stability and solubility effect. 1 PublicationCorresponds to variant dbSNP:rs7488262Ensembl.1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Sequence’ section describes the sequence of naturally occurring alternative protein isoform(s). The changes in the amino acid sequence may be due to alternative splicing, alternative promoter usage, alternative initiation, or ribosomal frameshifting.<p><a href='/help/var_seq' target='_top'>More...</a></p>Alternative sequenceiVSP_040971147E → GKE in isoform b. Curated1

Sequence databases

Select the link destinations:

EMBL nucleotide sequence database

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EMBLi

GenBank nucleotide sequence database

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GenBanki

DNA Data Bank of Japan; a nucleotide sequence database

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DDBJi
Links Updated
AY098914 mRNA Translation: AAM28946.1
AC090109 Genomic DNA No translation available.
BC114499 mRNA Translation: AAI14500.1

The Consensus CDS (CCDS) project

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CCDSi
CCDS31859.1 [Q8IWU9-1]

NCBI Reference Sequences

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RefSeqi
NP_775489.2, NM_173353.3 [Q8IWU9-1]

UniGene gene-oriented nucleotide sequence clusters

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UniGenei
Hs.736576

Genome annotation databases

Ensembl eukaryotic genome annotation project

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Ensembli
ENST00000333850; ENSP00000329093; ENSG00000139287 [Q8IWU9-1]

Database of genes from NCBI RefSeq genomes

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GeneIDi
121278

KEGG: Kyoto Encyclopedia of Genes and Genomes

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KEGGi
hsa:121278

UCSC genome browser

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UCSCi
uc009zrw.1 human [Q8IWU9-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism, RNA editing

<p>This section provides links to proteins that are similar to the protein sequence(s) described in this entry at different levels of sequence identity thresholds (100%, 90% and 50%) based on their membership in UniProt Reference Clusters (<a href="http://www.uniprot.org/help/uniref">UniRef</a>).<p><a href='/help/similar_proteins_section' target='_top'>More...</a></p>Similar proteinsi

<p>This section is used to point to information related to entries and found in data collections other than UniProtKB.<p><a href='/help/cross_references_section' target='_top'>More...</a></p>Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AY098914 mRNA Translation: AAM28946.1
AC090109 Genomic DNA No translation available.
BC114499 mRNA Translation: AAI14500.1
CCDSiCCDS31859.1 [Q8IWU9-1]
RefSeqiNP_775489.2, NM_173353.3 [Q8IWU9-1]
UniGeneiHs.736576

3D structure databases

Select the link destinations:
PDBei
RCSB PDBi
PDBji
Links Updated
PDB entryMethodResolution (Å)ChainPositionsPDBsum
4V06X-ray2.63A/B148-490[»]
ProteinModelPortaliQ8IWU9
SMRiQ8IWU9
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi125720, 2 interactors
IntActiQ8IWU9, 1 interactor
MINTiQ8IWU9
STRINGi9606.ENSP00000329093

Chemistry databases

BindingDBiQ8IWU9
ChEMBLiCHEMBL5433
DrugBankiDB00150 L-Tryptophan
DB12095 Telotristat

PTM databases

iPTMnetiQ8IWU9
PhosphoSitePlusiQ8IWU9

Polymorphism and mutation databases

BioMutaiTPH2
DMDMi30580625

Proteomic databases

jPOSTiQ8IWU9
PaxDbiQ8IWU9
PeptideAtlasiQ8IWU9
PRIDEiQ8IWU9
ProteomicsDBi70900
70901 [Q8IWU9-2]

Protocols and materials databases

Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000333850; ENSP00000329093; ENSG00000139287 [Q8IWU9-1]
GeneIDi121278
KEGGihsa:121278
UCSCiuc009zrw.1 human [Q8IWU9-1]

Organism-specific databases

Comparative Toxicogenomics Database

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CTDi
121278
DisGeNETi121278
EuPathDBiHostDB:ENSG00000139287.12

GeneCards: human genes, protein and diseases

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GeneCardsi
TPH2
HGNCiHGNC:20692 TPH2
HPAiCAB078198
HPA046274
MalaCardsiTPH2
MIMi607478 gene
608516 phenotype
613003 phenotype
neXtProtiNX_Q8IWU9
OpenTargetsiENSG00000139287
PharmGKBiPA128747823

GenAtlas: human gene database

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GenAtlasi
Search...

Phylogenomic databases

eggNOGiKOG3820 Eukaryota
COG3186 LUCA
GeneTreeiENSGT00940000153696
HOGENOMiHOG000233373
HOVERGENiHBG006841
InParanoidiQ8IWU9
KOiK00502
OMAiSMVHIES
OrthoDBi614557at2759
PhylomeDBiQ8IWU9
TreeFamiTF313327

Enzyme and pathway databases

UniPathwayi
UPA00846;UER00799

BioCyciMetaCyc:HS06603-MONOMER
BRENDAi1.14.16.4 2681
ReactomeiR-HSA-209931 Serotonin and melatonin biosynthesis
SABIO-RKiQ8IWU9
SIGNORiQ8IWU9

Miscellaneous databases

ChiTaRS: a database of human, mouse and fruit fly chimeric transcripts and RNA-sequencing data

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ChiTaRSi
TPH2 human

The Gene Wiki collection of pages on human genes and proteins

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GeneWikii
TPH2

Database of phenotypes from RNA interference screens in Drosophila and Homo sapiens

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GenomeRNAii
121278

Protein Ontology

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PROi
PR:Q8IWU9

The Stanford Online Universal Resource for Clones and ESTs

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SOURCEi
Search...

Gene expression databases

BgeeiENSG00000139287 Expressed in 37 organ(s), highest expression level in secondary oocyte
GenevisibleiQ8IWU9 HS

Family and domain databases

Gene3Di1.10.800.10, 1 hit
InterProiView protein in InterPro
IPR002912 ACT_dom
IPR001273 ArAA_hydroxylase
IPR018301 ArAA_hydroxylase_Fe/CU_BS
IPR036951 ArAA_hydroxylase_sf
IPR036329 Aro-AA_hydroxylase_C_sf
IPR019774 Aromatic-AA_hydroxylase_C
IPR005963 Trp_5_mOase
IPR019773 Tyrosine_3-monooxygenase-like
PANTHERiPTHR11473 PTHR11473, 2 hits
PfamiView protein in Pfam
PF00351 Biopterin_H, 1 hit
PIRSFiPIRSF000336 TH, 1 hit
PRINTSiPR00372 FYWHYDRXLASE
SUPFAMiSSF56534 SSF56534, 1 hit
TIGRFAMsiTIGR01270 Trp_5_monoox, 1 hit
PROSITEiView protein in PROSITE
PS51671 ACT, 1 hit
PS00367 BH4_AAA_HYDROXYL_1, 1 hit
PS51410 BH4_AAA_HYDROXYL_2, 1 hit

ProtoNet; Automatic hierarchical classification of proteins

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ProtoNeti
Search...

<p>This section provides general information on the entry.<p><a href='/help/entry_information_section' target='_top'>More...</a></p>Entry informationi

<p>This subsection of the ‘Entry information’ section provides a mnemonic identifier for a UniProtKB entry, but it is not a stable identifier. Each reviewed entry is assigned a unique entry name upon integration into UniProtKB/Swiss-Prot.<p><a href='/help/entry_name' target='_top'>More...</a></p>Entry nameiTPH2_HUMAN
<p>This subsection of the ‘Entry information’ section provides one or more accession number(s). These are stable identifiers and should be used to cite UniProtKB entries. Upon integration into UniProtKB, each entry is assigned a unique accession number, which is called ‘Primary (citable) accession number’.<p><a href='/help/accession_numbers' target='_top'>More...</a></p>AccessioniPrimary (citable) accession number: Q8IWU9
Secondary accession number(s): A6NGA4, Q14CB0
<p>This subsection of the ‘Entry information’ section shows the date of integration of the entry into UniProtKB, the date of the last sequence update and the date of the last annotation modification (‘Last modified’). The version number for both the entry and the <a href="http://www.uniprot.org/help/canonical_and_isoforms">canonical sequence</a> are also displayed.<p><a href='/help/entry_history' target='_top'>More...</a></p>Entry historyiIntegrated into UniProtKB/Swiss-Prot: May 9, 2003
Last sequence update: March 1, 2003
Last modified: February 13, 2019
This is version 148 of the entry and version 1 of the sequence. See complete history.
<p>This subsection of the ‘Entry information’ section indicates whether the entry has been manually annotated and reviewed by UniProtKB curators or not, in other words, if the entry belongs to the Swiss-Prot section of UniProtKB (<strong>reviewed</strong>) or to the computer-annotated TrEMBL section (<strong>unreviewed</strong>).<p><a href='/help/entry_status' target='_top'>More...</a></p>Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

<p>This section contains any relevant information that doesn’t fit in any other defined sections<p><a href='/help/miscellaneous_section' target='_top'>More...</a></p>Miscellaneousi

Keywords - Technical termi

3D-structure, Complete proteome, Reference proteome

Documents

  1. Human chromosome 12
    Human chromosome 12: entries, gene names and cross-references to MIM
  2. PDB cross-references
    Index of Protein Data Bank (PDB) cross-references
  3. SIMILARITY comments
    Index of protein domains and families
  4. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  5. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  6. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  7. PATHWAY comments
    Index of metabolic and biosynthesis pathways
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