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Category Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21

GIFtS
-

TPH2 Gene

protein-coding GIFtS: 65
GCID: GC12P072284

tryptophan hydroxylase 2

Explore 40 diseases affiliated with
TPH2 via

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(According to ¹HGNC, ²Entrez Gene,
³UniProtKB/Swiss-Prot, ⁴UniProtKB/TrEMBL, ⁵OMIM, ⁶GeneLoc, ⁷Ensembl, ⁸DME, ⁹miRBase, and/or ¹⁰fRNAdb)
About This Section

Aliases
Tryptophan Hydroxylase 2¹ ²		ADHD7² ⁵
NTPH¹ ² ³ ⁵		FLJ37295¹
Neuronal Tryptophan Hydroxylase² ³		Tryptophan 5-Hydroxylase 2²
Tryptophan 5-Monooxygenase 2² ³		EC 1.14.16⁸
EC 1.14.16.4³ ⁸

External Ids:	HGNC: 20692¹	Entrez Gene: 121278²	Ensembl: ENSG00000139287⁷	OMIM: 607478⁵	UniProtKB: Q8IWU9³

Export aliases for TPH2 gene to outside databases

Previous GC identifers: GC12P072049 GC12P070618 GC12P069382

(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

Entrez Gene summary for TPH2:

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. The human

genome contains two related tryptophan hydroxylases, one on chromosome 11p15-p14 and one on chromosome 12q21. This

gene is expressed predominantly in the brain stem. Mutations in this gene may be associated with psychiatric diseases

such as bipolar affective disorder and major depression. (provided by RefSeq, Jul 2008)

summary for TPH2:

Hydroxylases are enzymes that catalyze the addition of -OH (hydroxyl) groups to their substrate during

oxidation reactions. This diverse group of enzymes includes tryptophan hydroxylase (E.C. 1.14.16.4), which

is involved in serotonin synthesis; steroid 11-? hydroxylase (also known as CYP11B1) (E.C. 1.14.15.4), which

is involved in glucocorticoid synthesis; and LTB4 ?-hydroxylase (also known as CYP4F3) (E.C. 1.14.13.30),

which is involved in arachidonic acid metabolism.

Gene Wiki entry for TPH2

(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section

RefSeq DNA sequence:

NC_000012.11 NC_018923.1 NT_029419.12

Regulatory elements:

SABiosciences Regulatory transcription factor binding sites in the TPH2 gene promoter:
Sox5 NRSF form 1 SEF-1 (1) POU3F2 (N-Oct-5b) POU3F2 (N-Oct-5a) POU3F2 NRSF form 2
Other transcription factors

SwitchGear Promoter luciferase reporter plasmid: TPH2 promoter sequence

Search SABiosciences Chromatin IP Primers for TPH2

Epigenetics:

QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat TPH2

Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 12q21.1 Ensembl cytogenetic band: 12q21.1 HGNC cytogenetic band: 12q15

TPH2 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
TPH2 gene location

GeneLoc information about chromosome 12 GeneLoc Exon Structure

GeneLoc location for GC12P072284: view genomic region (about GC identifiers)

Start:	72,332,626 bp from pter	End:	72,580,398 bp from pter
Size:	247,773 bases	Orientation:	plus strand

(According to ¹UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to ²PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE MOPED and PaxDb, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Uscn,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Uscn, Ontologies according to Gene Ontology Consortium 01 Mar 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, and/or Uscn)
About This Section

UniProtKB/Swiss-Prot: TPH2_HUMAN, Q8IWU9 (See protein sequence)

Recommended Name: Tryptophan 5-hydroxylase 2

Size: 490 amino acids; 56057 Da

Cofactor: Fe(2+) ion (By similarity)

Rna editing: Modified_positions=433, 441, 468; Note=Modulates the kinetic properties of both isoforms

Secondary accessions: A6NGA4 Q14CB0

Alternative splicing: 2 isoforms: Q8IWU9-1 Q8IWU9-2

Explore the universe of human proteins at neXtProt for TPH2: NX_Q8IWU9

Post-translational modifications:

View modification sites using PhosphoSitePlus²

View neXtProt modification sites for NX_Q8IWU9

4/28 DME Specific Peptides for TPH2 (Q8IWU9) (see all 28)

EFGLCKQ

IGLASLG

PQLEDVS

DALNKMN

TPH2 Protein expression data from MOPED and PaxDb: About this image

REFSEQ proteins: NP_775489.2

ENSEMBL proteins:

ENSP00000329093 ENSP00000447898

Reactome Protein details: Q8IWU9
Human Recombinant Protein Products:

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	Uscn Proteins for TPH2

Gene Ontology (GO): 2 cellular component terms (GO ID links to tree view): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0005829	cytosol	TAS	--
GO:0043005	neuron projection	IEA	--

TPH2 for ontologies About GeneDecksing

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	Uscn ELISAs and CLIAs for TPH2

(According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
About This Section

TPH2 for domains About GeneDecksing

5/6 InterPro domains/families (see all 6):

IPR002912 ACT_dom

IPR019774 Aromatic-AA_hydroxylase_C

IPR005963 Trp_5_mOase

IPR019773 Tyrosine_3-monooxygenase-like

IPR001273 ArAA_hydroxylase

Graphical View of Domain Structure for InterPro Entry Q8IWU9

ProtoNet protein and cluster: Q8IWU9

2 Blocks protein families:

IPB001273 Aromatic amino acid hydroxylase

IPB002912 Amino acid-binding ACT

UniProtKB/Swiss-Prot: TPH2_HUMAN, Q8IWU9

Similarity: Belongs to the biopterin-dependent aromatic amino acid hydroxylase family

Similarity: Contains 1 ACT domain

(According to ¹UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or ²DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013,
bound targets from SABiosciences, miRNA Gene Targets from miRTarBase shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene.)
About This Section

Function Summary:

UniProtKB/Swiss-Prot: TPH2_HUMAN, Q8IWU9

Catalytic activity: L-tryptophan + tetrahydrobiopterin + O(2) = 5-hydroxy-L-tryptophan + 4a-hydroxytetrahydrobiopterin

Biophysicochemical properties: Kinetic parameters: KM=41.3 uM for L-tryptophan; Vmax=833 nmol/min/mg enzyme;

Enzyme Numbers (IUBMB): EC 1.14.16.4¹ ² EC 1.14.16²

miRNA Products:		OriGene 3'-UTR Clone: TPH2 Browse MicroRNA Expression Plasmids
		QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat TPH2
		6 QIAGEN miScript miRNA Assays for microRNAs that regulate TPH2:
		hsa-miR-141 hsa-miR-629 hsa-miR-200a hsa-miR-624 hsa-miR-338-3p hsa-miR-570
		SwitchGear 3'UTR luciferase reporter plasmid: TPH2 3' UTR sequence

Inhib. RNA Products:		Browse for Gene Knock-down Tools from EMD Millipore
		OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for TPH2 (see all 7) OriGene shRNA RFP: TPH2 OriGene siRNA: TPH2
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Gene Editing
Products:

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In Situ Assay
Products:

Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for TPH2

Gene Ontology (GO): 4 molecular function terms (GO ID links to tree view): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0004510	tryptophan 5-monooxygenase activity	IEA	--
GO:0005506	iron ion binding	IEA	--
GO:0016597	amino acid binding	IEA	--
GO:0016714	oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, reduced pteridine as one donor, and incorporation of one atom of oxygen	--	--

TPH2 for ontologies           About GeneDecksing

Animal Models:
     Mouse knock-outs for TPH2: Tph2^tm1Lex Tph2^tm1Zfc Tph2^tm1Bdr Tph2^tm1.2Kpl
     11 MGI mutant phenotypes (inferred from 11 alleles) (MGI details for Tph2):

adipose tissue	behavior/neurological	cardiovascular system	growth/size	homeostasis/metabolism
integument	mortality/aging	nervous system	no phenotypic analysis	respiratory system
taste/olfaction

TPH2 for phenotypes About GeneDecksing

(Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, and/or STRING, Interactions according to ¹UniProtKB, ²MINT, ³I2D, and/or ⁴STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene).
About This Section

Unified GeneCards pathways - 5/7 super-pathways (see all 7) About this table

See pathways by source

Super-pathway

contained gene-specific pathways

Regulation of thyroid hormone activity

	Amine-derived hormones	0.21			Serotonin and melatonin biosynthesis	0.00
	serotonin and melatonin biosynthesis	0.00

Metabolism

Metabolism

1.00

Metabolic pathways

0.38

Metabolism of amino acids and derivatives

Metabolism of amino acids and derivatives

1.00

SIDS Susceptibility Pathways

SIDS Susceptibility Pathways

1.00

Monoamine Transport

Monoamine Transport

1.00

Pathway sources
See GeneCards unified pathways
Show all pathways

3 BioSystems Pathways for TPH2

	SIDS Susceptibility Pathways
	serotonin and melatonin biosynthesis
	Monoamine Transport

4 Reactome Pathways for TPH2

	Amine-derived hormones
	Serotonin and melatonin biosynthesis
	Metabolism
	Metabolism of amino acids and derivatives

1 PharmGKB Pathway for TPH2

Selective Serotonin Reuptake Inhibitor Pathway, Pharmacodynamics

2 Kegg Pathways (Kegg details for TPH2):

	Tryptophan metabolism
	Metabolic pathways

UniProtKB/Swiss-Prot: TPH2_HUMAN, Q8IWU9

Pathway: Aromatic compound metabolism; serotonin biosynthesis; serotonin from L-tryptophan: step 1/2

TPH2 for pathways About GeneDecksing

Interactions:

SABiosciences Gene Network Central^TM Interacting Genes and Proteins Network for TPH2

STRING Interaction Network Preview (showing 5 interactants - click image to see 8)

5/8 Interacting proteins for TPH2 (Q8IWU9^{2, 3} ENSP00000329093⁴) via UniProtKB, MINT, STRING, and/or I2D (see all 8)

Interactant		Interaction Details
GeneCard	External ID(s)	Interaction Details
YWHAE	P62258²^,³, ENSP00000264335⁴	MINT-8008017 I2D: score=1 STRING: ENSP00000264335
DDC	ENSP00000350616⁴	STRING: ENSP00000350616
IDO1	ENSP00000253513⁴	STRING: ENSP00000253513
IL4I1	ENSP00000342557⁴	STRING: ENSP00000342557
WARS	ENSP00000347495⁴	STRING: ENSP00000347495

About this table

Gene Ontology (GO): 5/13 biological process terms (GO ID links to tree view) (see all 13): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0006950	response to stress	IEA	--
GO:0007623	circadian rhythm	IEA	--
GO:0009072	aromatic amino acid family metabolic process	IEA	--
GO:0014823	response to activity	IEA	--
GO:0031667	response to nutrient levels	IEA	--

TPH2 for ontologies About GeneDecksing

(Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
About This Section

TPH2 for compounds About GeneDecksing

Browse Small Molecules at EMD Millipore

Browse drugs & compounds from Enzo Life Sciences

Compounds for TPH2 available from Tocris Bioscience About this table

Compound	Action	CAS #
p-Chlorophenylalanine	Tryptophan hydroxylase inhibitor	[7424-00-2]

8 HMDB Compounds for TPH2 About this table

Compound	Synonyms	CAS #	PubMed Ids
4a-Hydroxytetrahydrobiopterin	2-amino-6-(1,2-dihydroxypropyl)-4a-hydroxy-5,6,7,8-tetrahydropteridin-4(4aH)-one (see all 7)	70110-58-6	--
5-Hydroxy-L-tryptophan	(+-)-5-Hydroxytryptophan (see all 21)	4350-09-8	--
Iron	Armco iron (see all 19)	7439-89-6	--
L-Tryptophan	(-)-tryptophan (see all 53)	73-22-3	--
Oxygen	Oxygen (see all 5)	7782-44-7	--
Sapropterin	(6R)-5,6,7,8-Tetrahydro-L-biopterin (see all 11)	62989-33-7	--
Tetrahydrobiopterin	(1R,2S)-(2-Amino-3,4,5,6,7,8-hexahydro-4-oxo-6-pteridinyl)-1,2-propandiol (see all 11)	17528-72-2	--
Water	Dihydrogen oxide (see all 2)	7732-18-5	--

1 DrugBank Compound for TPH2 About this table

Compound	Synonyms	CAS #	Type	Actions	PubMed Ids
L-Tryptophan	(-)-Tryptophan (see all 14)	73-22-3	enzyme	substrate	17666043 16806105 17408646 17519505 17492791

6 Novoseek chemical compound relationships for TPH2 gene About this table

Compound	-log (P-Val)	Hits	PubMed IDs for Articles with Shared Sentences (# sentences)
maoa	65.6	3	15052272 (2), 16610949 (1)
fluoxetine	46.9	3	18496675 (1), 15052272 (1), 16982082 (1)
5-hydroxytryptamine	39.9	12	18496675 (1), 17083332 (1)
phenylalanine	2.32	2	15663479 (1), 16581181 (1)
tyrosine	0	2	16581181 (1), 18444257 (1)
estrogen	0	9	15857682 (3), 19878438 (1)

3 PharmGKB related drug/compound annotations for TPH2 gene

Drug/compound	PharmGKB Annotation
antidepressants	CA
mirtazapine	CA
venlafaxine	CA

About this table

Search CenterWatch for drugs/clinical trials and news about TPH2

(Secondary structures according to fRNAdb,
GenBank/EMBL/DDBJ Accessions according to
Unigene (Build 235 Homo sapiens; Mar 10 2013) or GenBank,
RefSeq according to Entrez Gene,
DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
RNAi Products from EMD Millipore,
siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, SABiosciences, and/or QIAGEN )
About This Section

REFSEQ mRNAs for TPH2 gene:

NM_173353.3

Unigene Cluster for TPH2:

Tryptophan hydroxylase 2

Hs.736576 [show with all ESTs]

Unigene Representative Sequence: AK094614

6 Ensembl transcripts including schematic representations, and UCSC links where relevant:

ENST00000333850(uc009zrw.1 uc001swy.2) ENST00000546576 ENST00000550403

ENST00000547348 ENST00000551074 ENST00000547278

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		hsa-miR-141 hsa-miR-629 hsa-miR-200a hsa-miR-624 hsa-miR-338-3p hsa-miR-570
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Inhib. RNA Products:		Browse for Gene Knock-down Tools from EMD Millipore
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		QIAGEN QuantiFast Probe-based Assays in human, mouse, rat TPH2

Additional cDNA sequence:

AK094614.1 AY098914.1 BC114442.1 BC114499.1

2 DOTS entries:

DT.100690267 DT.97798836

6 AceView cDNA sequences:

AY098914 NM_173353 BM466099 AK094614 BG530287 BG532070

GeneLoc Exon Structure

(RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
About This Section

TPH2 expression in normal human tissues (normalized intensities)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS
CGAP TAG: TGTCTTGATG

About this image

TPH2 expression in embryonic tissues and stem cells

Expression by the Database of Embryonic development, Stem cell research, and Regenerative medicine About this table

1 LifeMap In Vivo Development Anatomical Compartment/Cell

Tissue

Anatomical Compartment

Cell

Category (developmental path)

Adipose

Visceral White Adipose

Visceral White Adipocytes

Adipose

Expression:

Positive

Negative

Selective marker

Experimental details:

Curated

Microarrays

In-situ hybridization

See TPH2 Protein Expression from SPIRE MOPED and PaxDB
Genevestigator expression for TPH2

SOURCE GeneReport for Unigene cluster: Hs.736576

UniProtKB/Swiss-Prot: TPH2_HUMAN, Q8IWU9

Tissue specificity: Brain specific

SABiosciences Expression via Pathway-Focused PCR Array including TPH2:

Amino Acid Metabolism I in human mouse rat

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In Situ
Assay Products:

Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for TPH2

(Orthologs according to ^1,2HomoloGene (²older version, for species not in ¹newer version), ³euGenes, ⁴SGD , ⁵MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or ⁶Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
About This Section

This gene was present in the common ancestor of animals.

Orthologs for TPH2 gene from 5/19 species (see all 19) About this table

Organism	Taxonomic classification	Gene	Description	Human Similarity	Orthology Type	Details
chicken (Gallus gallus)	Aves	TPH2¹	tryptophan hydroxylase 2	81.15(n) 91.6(a)		408026 NM_001001301.1 NP_001001301.1
lizard (Anolis carolinensis)	Reptilia	TPH2⁶	--	91(a)	1 ↔ 1	5(38551156-38657716)
zebrafish (Danio rerio)	Actinopterygii	tph2¹	tryptophan hydroxylase 2 (tryptophan 5-monooxygenase)	68.12(n) 76.64(a)		407712 NM_214795.1 NP_999960.1
fruit fly (Drosophila melanogaster)	Insecta	Trh⁶	Tryptophan hydroxylase	46(a)	1 → many	3L(1190384-1193169)
worm (Caenorhabditis elegans)	Secernentea	tph-1⁶	TryPtophan Hydroxylase family member (tph-1)	41(a)	1 → many	II(7549287-7551929)

ENSEMBL Gene Tree for TPH2 (if available)
TreeFam Gene Tree for TPH2 (if available)

(Paralogs according to ¹HomoloGene,
²Ensembl, and ³SIMAP, Pseudogenes according to ⁴Pseudogene.org Build 68)
About This Section

Paralogs for TPH2 gene

TH² PAH² TPH1²

3 SIMAP similar genes for TPH2 using alignment to 14 protein entries: TPH2_HUMAN (see all proteins):

TPH1 PAH TH

TPH2 for paralogs About GeneDecksing

(SNPs/Variants according to the ¹NCBI SNP Database, ²Ensembl, ³PupaSUITE, UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
About This Section

SNP ID	Valid	Clinical significance	Chr 12 pos	Sequence	#	AA Chg	Type	More	#	Allele freq	Pop	Total sample	More
Genomic Data					Transcription Related Data				Allele Frequencies
				--	--	--		--	--
rs17110563^1,2	C,F,H	other	72366306(+)	`GTCAGC/TCCATT`	2	P S	mis¹ ese³		11		EU NS NA	7025
rs2450501^1,2		--	69421750(+)	`atacaC/Gacaca`	1	--	int¹		0	--	--	--	--
rs188405470^1,2		--	72330748(+)	`AGTGCA/GTTGCT`	1	--	us2k¹		0	--	--	--	--
rs61926465^1,2	C,F,	--	72330796(+)	`TCCCAG/TGACTG`	1	--	us2k¹		2		NA	4
rs57543333^1,2	F	--	72330853(+)	`GTTGCA/GTTGTT`	1	--	us2k¹		2		EA	356
rs11178996^1,2	C,F,H,	--	72330854(+)	`TTGCCA/GTTGTT`	1	--	us2k¹ tfbs³		11		NS EA NA WA	766
rs185184556^1,2		--	72330870(+)	`ACTTAC/TGCGAC`	1	--	us2k¹		0	--	--	--	--
rs190247646^1,2		--	72330985(+)	`ATTACG/TTTTAA`	1	--	us2k¹		0	--	--	--	--
rs143344414^1,2		--	72331073(+)	`TTCATC/TACATC`	1	--	us2k¹		0	--	--	--	--
rs117245914^1,2	F,	--	72331101(+)	`TATTAT/CTGTCA`	1	--	us2k¹		1		NA	120

HapMap Linkage Disequilibrium report for TPH2 (72332626 - 72580398 bp)
Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
Database of Genomic Variants (DGV): 7 variations for TPH2
6 CNVs: 66269 43866 61252 23451 58596 101559
1 Indel: 42978
Human Gene Mutation Database (HGMD): TPH2

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(in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
About This Section

TPH2 for disorders           About GeneDecksing

OMIM gene information: 607478
OMIM disorders: 608516  613003
UniProtKB/Swiss-Prot: TPH2_HUMAN, Q8IWU9

Genetic variation in TPH2 may influence susceptibility to major depressive disorder (MDD) [MIM:608516]

Defects in TPH2 are the cause of susceptibility to attention deficit-hyperactivity disorder type 7 (ADHD7)

[MIM:613003]. ADHD is a neurobehavioral developmental disorder and is primarily characterized by the co-existence of

attentional problems and hyperactivity, with each behavior occurring infrequently alone. Note=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

20/40 diseases for TPH2 (see all 40): About MalaCards

attention deficit hyperactivity disorder bipolar affective disorder obsessive-compulsive disorder adhd

advanced sleep phase syndrome sudden infant death syndrome migraine without aura prader-willi syndrome

borderline personality disorder personality disorder traumatic brain injury anxiety disorder

major depressive disorder autism spectrum disorder brain injury panic disorder

irritable bowel syndrome nicotine dependence cocaine dependence mood disorder

3 diseases from the University of Copenhagen DISEASES database for TPH2:

Anxiety disorder Schizophrenia Attention deficit hyperactivity disorder

10/12 Novoseek disease relationships for TPH2 gene (see all 12) About this table

Disease	-log (P-Val)	Hits	PubMed IDs for Articles with Shared Sentences (# sentences)
major depression	69.4	23	19588223 (4), 16203956 (4), 15124006 (2), 16337901 (1) (see all 14)
bipolar disorder	55.9	12	17905754 (2), 17167340 (2), 19319927 (1), 16436194 (1) (see all 9)
psychiatric disorder	53.9	21	20126463 (2), 17972101 (1), 19344641 (1), 19800079 (1) (see all 10)
mood disorders	53.4	6	15968084 (2), 17604842 (2), 17015812 (1)
attention-deficit hyperactivity disorder	49.3	5	19319927 (1), 18213624 (1), 19894072 (1), 18444257 (1) (see all 5)
anxiety disorders	48.4	4	19588223 (3)
panic disorder	33.9	8	16401665 (3), 17123728 (1)
personality disorders	25.7	4	17176492 (2), 19894072 (1)
schizophrenia	23.2	21	20144688 (3), 15840421 (2), 20126463 (1), 18444257 (1) (see all 5)
obsessive-compulsive disorder	14.2	1	17346350 (1)

Genetic Association Database (GAD): TPH2
Human Genome Epidemiology (HuGE) Navigator: TPH2 (135 documents)

Export disorders for TPH2 gene to outside databases

(in PubMed. Associations of this gene to articles via ¹Entrez Gene, ²UniProtKB/Swiss-Prot, ³HGNC, ⁴GAD, ⁵PharmGKB, ⁶HMDB, ⁷DrugBank, ⁸UniProtKB/TrEMBL, ⁹ Novoseek, and/or ¹⁰fRNAdb)
About This Section

PubMed articles for TPH2 gene, integrated from 9 sources (see all 227):
(articles sorted by number of sources associating them with TPH2)

Utopia: connect your pdf to the dynamic
world of online information

Synthesis of serotonin by a second tryptophan hydroxylase isoform. (PubMed id 12511643)^{1, 2, 3} Walther D.J.... Bader M. (2003)
Alternative splicing and extensive RNA editing of hum an TPH2 transcripts. (PubMed id 20126463)^{1, 2, 9} Grohmann M....Walther D.J. (2010)
Functional properties of missense variants of human tryptophan hydroxylase 2. (PubMed id 19319927)^{1, 2, 9} McKinney J.A....Haavik J. (2009)
Nested association between genetic variation in tryptophan hydroxylase II, bipolar affective disorder, and suicide attempts. (PubMed id 16806105)^{1, 7, 9} Lopez V.A....McMahon F.J. (2007)
Possible association between autism and variants in the brain-expressed tryptophan hydroxylase gene (TPH2). (PubMed id 15768392)^{1, 4, 9} Coon H....McMahon W. (2005)
SNP and haplotype analysis of a novel tryptophan hydroxylase isoform (TPH2) gene provide evidence for association with major depression. (PubMed id 15124006)^{1, 4, 9} Zill P....Ackenheil M. (2004)
Single nucleotide polymorphism and haplotype analysis of a novel tryptophan hydroxylase isoform (TPH2) gene in suicide victims. (PubMed id 15476687)^{1, 4, 9} Zill P....Ackenheil M. (2004)
Brain-specific tryptophan hydroxylase 2 (TPH2): a functional Pro206Ser substitution and variation in the 5'-region are associated with bipolar affective disorder. (PubMed id 17905754)^{1, 2, 9} Cichon S.... Noethen M.M. (2008)
Promoter polymorphism of second tryptophan hydroxylase isoform (TPH2) in schizophrenia and suicidality. (PubMed id 15840421)^{1, 4, 9} De Luca V....Kennedy J.L. (2005)
Transmission disequilibrium of polymorphic variants in the tryptophan hydroxylase-2 gene in attention-deficit/hyperactivity disorder. (PubMed id 16116490)^{1, 4, 9} Walitza S....Lesch K.P. (2005)

(in PubMed, OMIM, and NCBI Bookshelf)
About This Section

		AND	OR
Aliases
Disorders
Free Text

Query String		PubMed OMIM NCBI Bookshelf
	(Note: In FireFox, select the above section and copy using Ctrl-C)

(According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
About This Section

Entrez Gene: 121278	HGNC: 20692	AceView: TPH2	Ensembl:ENSG00000139287	euGenes: HUgn121278
ECgene: TPH2	Kegg: 121278	H-InvDB: TPH2

(According to HUGE)
About This Section

(According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
About This Section

Name	Description
PharmGKB entry for TPH2	Pharmacogenomics, SNPs, Pathways
GeneReviews	http://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/TPH2

Intellectual Property for TPH2 gene
(Patent information from GeneIP, Licensable technologies from WIS Yeda, Salk, Tufts, IP news from LifeMap Sciences, Inc.)

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Patent Information for TPH2 gene:
Search GeneIP for patents involving TPH2

GeneCards and IP:
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