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Aliases for TH Gene

Aliases for TH Gene

  • Tyrosine Hydroxylase 2 3
  • TYH 3 4 6
  • Tyrosine 3-Monooxygenase 2 3
  • Tyrosine 3-Hydroxylase 3 4
  • EC 4 63
  • Dystonia 14 3
  • EC 1.14.16 63
  • DYT14 3
  • DYT5b 3

External Ids for TH Gene

Previous GeneCards Identifiers for TH Gene

  • GC11U990132
  • GC11M002273
  • GC11M002144
  • GC11M002149
  • GC11M002141
  • GC11M002185
  • GC11M001982

Summaries for TH Gene

Entrez Gene Summary for TH Gene

  • The protein encoded by this gene is involved in the conversion of tyrosine to dopamine. It is the rate-limiting enzyme in the synthesis of catecholamines, hence plays a key role in the physiology of adrenergic neurons. Mutations in this gene have been associated with autosomal recessive Segawa syndrome. Alternatively spliced transcript variants encoding different isoforms have been noted for this gene. [provided by RefSeq, Jul 2008]

GeneCards Summary for TH Gene

TH (Tyrosine Hydroxylase) is a Protein Coding gene. Diseases associated with TH include segawa syndrome, recessive and chiari malformation. Among its related pathways are Alpha-synuclein signaling and Metabolism. GO annotations related to this gene include protein domain specific binding and amino acid binding. An important paralog of this gene is TPH1.

UniProtKB/Swiss-Prot for TH Gene

  • Plays an important role in the physiology of adrenergic neurons

Gene Wiki entry for TH Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for TH Gene

Genomics for TH Gene

Regulatory Elements for TH Gene

Epigenetics Products

  • DNA Methylation CpG Assay Predesigned for Pyrosequencing in human,mouse,rat

Genomic Location for TH Gene

2,163,929 bp from pter
2,171,877 bp from pter
7,949 bases
Minus strand

Genomic View for TH Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for TH Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for TH Gene

Proteins for TH Gene

  • Protein details for TH Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Recommended name:
    Tyrosine 3-monooxygenase
    Protein Accession:
    Secondary Accessions:
    • B7ZL70
    • B7ZL73
    • Q0PWM2
    • Q0PWM3
    • Q15585
    • Q15588
    • Q15589
    • Q2M3B4

    Protein attributes for TH Gene

    528 amino acids
    Molecular mass:
    58600 Da
    Name=Fe(2+); Xref=ChEBI:CHEBI:29033;
    Quaternary structure:
    No Data Available
    • Sequence=AAA61173.1; Type=Erroneous gene model prediction; Evidence={ECO:0000305};

    Three dimensional structures from OCA and Proteopedia for TH Gene

    Alternative splice isoforms for TH Gene

neXtProt entry for TH Gene

Proteomics data for TH Gene at MOPED

Post-translational modifications for TH Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for TH Gene

Antibody Products

  • R&D Systems Antibodies for TH (Tyrosine Hydroxylase)

Domains for TH Gene

Gene Families for TH Gene

Graphical View of Domain Structure for InterPro Entry



  • Belongs to the biopterin-dependent aromatic amino acid hydroxylase family.
  • Belongs to the biopterin-dependent aromatic amino acid hydroxylase family.
genes like me logo Genes that share domains with TH: view

Function for TH Gene

Molecular function for TH Gene

GENATLAS Biochemistry:
tyrosine 3-hydroxylase,58.5kDa,mainly expressed in brain and adrenal glands,rate limiting enzyme in the biosynthesis of catecholamines,potentially associated with longevity in the male,unlikely to be associated with bipolar effective disorder (MAFD)
UniProtKB/Swiss-Prot CatalyticActivity:
L-tyrosine + tetrahydrobiopterin + O(2) = L-dopa + 4a-hydroxytetrahydrobiopterin
UniProtKB/Swiss-Prot EnzymeRegulation:
Phosphorylation leads to an increase in the catalytic activity
UniProtKB/Swiss-Prot Function:
Plays an important role in the physiology of adrenergic neurons

Enzyme Numbers (IUBMB) for TH Gene

Gene Ontology (GO) - Molecular Function for TH Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0004497 monooxygenase activity --
GO:0004511 tyrosine 3-monooxygenase activity TAS --
GO:0005515 protein binding IPI 11943812
GO:0008198 ferrous iron binding IEA --
GO:0008199 ferric iron binding IEA --
genes like me logo Genes that share ontologies with TH: view
genes like me logo Genes that share phenotypes with TH: view

Animal Models for TH Gene

MGI Knock Outs for TH:
  • Th tm1Tna
  • Th tm1Srt
  • Th tm2Rpa
  • Th tm1Rpa

Animal Model Products

miRNA Products

Inhibitory RNA Products

In Situ Assay Products

Flow Cytometry Products

No data available for miRNA , Transcription Factor Targeting and HOMER Transcription for TH Gene

Localization for TH Gene

Subcellular locations from

Jensen Localization Image for TH Gene COMPARTMENTS Subcellular localization image for TH gene
Compartment Confidence
cytosol 4
endoplasmic reticulum 4
plasma membrane 4
cytoskeleton 3
nucleus 3
extracellular 2
golgi apparatus 2
mitochondrion 2

Gene Ontology (GO) - Cellular Components for TH Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus ISS --
GO:0005737 cytoplasm IDA 10907721
GO:0005739 mitochondrion IEA --
GO:0005790 smooth endoplasmic reticulum IDA 12457228
GO:0005829 cytosol TAS --
genes like me logo Genes that share ontologies with TH: view

No data available for Subcellular locations from UniProtKB/Swiss-Prot for TH Gene

Pathways for TH Gene

genes like me logo Genes that share pathways with TH: view

PCR Array Products

UniProtKB/Swiss-Prot P07101-TY3H_HUMAN

  • Pathway: Catecholamine biosynthesis; dopamine biosynthesis; dopamine from L-tyrosine: step 1/2

Gene Ontology (GO) - Biological Process for TH Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001666 response to hypoxia IDA 17520326
GO:0001963 synaptic transmission, dopaminergic ISS --
GO:0001975 response to amphetamine IEA --
GO:0003007 heart morphogenesis NAS 12113410
GO:0006585 dopamine biosynthetic process from tyrosine NAS 10907721
genes like me logo Genes that share ontologies with TH: view

Compounds for TH Gene

(6) Drugbank Compounds for TH Gene

Compound Status Synonyms Cas Number PubChem ID Type Actions PubMed IDs
  • (6R)-2-Amino-6-[(1R,2S)-1,2-dihydroxypropyl]-5,6,7,8-tetrahydropteridin-4(1H)-one
17528-72-2 1125 Target cofactor approved, investigational
  • (S)-2-Amino-3-phenylpropionic acid
63-91-2 6140 Target binder approved, nutraceutical
  • (-)-alpha-amino-P-Hydroxyhydrocinnamic acid
60-18-4 6057 Target binder approved, nutraceutical
  • (-)-alpha-Methyl-L-tyrosine
672-87-7 441350 Target binder approved
  • 7,8-Dihydro-L-Biopterin
6779-87-9 5460203 Target experimental

(11) HMDB Compounds for TH Gene

Compound Synonyms Cas Number PubMed IDs
  • 2-amino-6-(1,2-dihydroxypropyl)-4a-hydroxy-5,6,7,8-tetrahydropteridin-4(4aH)-one
  • (S-(R*,S*))-2-amino-6-(1,2-dihydroxypropyl)-7,8-dihydro-4(1H)-Pteridinone
  • 2-Amino-3-(3,4-dihydroxyphenyl)propanoate
  • Armco iron
  • (-)-Dopa

(4) IUPHAR Ligand for TH Gene

Ligand Type Action Affinity Pubmed IDs
3-iodotyrosine Inhibitor Inhibition
3-chlorotyrosine Inhibitor Inhibition
alpha-propyldopacetamide Inhibitor Inhibition
alpha-methyltyrosine Inhibitor Inhibition

(127) Novoseek inferred chemical compound relationships for TH Gene

Compound -log(P) Hits PubMed IDs
tyrosine 95.8 435
dopamine 90.3 248
catecholamine 87.3 139
tyrh(.+) 85.8 7
levodopa 84.5 145
genes like me logo Genes that share compounds with TH: view

Transcripts for TH Gene

mRNA/cDNA for TH Gene

(4) REFSEQ mRNAs :
(12) Additional mRNA sequences :
(6) Selected AceView cDNA sequences:
(11) Ensembl transcripts including schematic representations, and UCSC links where relevant :

Unigene Clusters for TH Gene

Tyrosine hydroxylase:
Representative Sequences:

miRNA Products

Inhibitory RNA Products

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for TH Gene

ExUns: 1a · 1b ^ 2 ^ 3a · 3b ^ 4a · 4b ^ 5 ^ 6 ^ 7 ^ 8 ^ 9 ^ 10 ^ 11 ^ 12 ^ 13 ^ 14
SP1: - -
SP2: -
SP3: - - -
SP4: - - - -
SP5: -
SP6: - -

Relevant External Links for TH Gene

GeneLoc Exon Structure for
ECgene alternative splicing isoforms for

Expression for TH Gene

mRNA expression in normal human tissues for TH Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for TH Gene

This gene is overexpressed in Brain - Substantia nigra (17.9), Brain - Hypothalamus (15.9), and Adrenal Gland (13.7).

Protein differential expression in normal tissues for TH Gene

This gene is overexpressed in Adrenal (54.0).

Integrated Proteomics: protein expression from ProteomicsDB, PaxDb, MOPED, and MaxQB for TH Gene

SOURCE GeneReport for Unigene cluster for TH Gene Hs.435609

mRNA Expression by UniProt/SwissProt for TH Gene

Tissue specificity: Mainly expressed in the brain and adrenal glands
genes like me logo Genes that share expressions with TH: view

Primer Products

In Situ Assay Products

No data available for Expression partners for TH Gene

Orthologs for TH Gene

This gene was present in the common ancestor of animals.

Orthologs for TH Gene

Organism Taxonomy Gene Similarity Type Details
(Bos Taurus)
Mammalia TH 35
  • 84.79 (n)
  • 84.11 (a)
TH 36
  • 85 (a)
(Canis familiaris)
Mammalia TH 35
  • 87.27 (n)
  • 89.9 (a)
TH 36
  • 90 (a)
(Mus musculus)
Mammalia Th 35
  • 82.96 (n)
  • 88.13 (a)
Th 16
Th 36
  • 88 (a)
(Pan troglodytes)
Mammalia TH 35
  • 98.6 (n)
  • 98.8 (a)
TH 36
  • 100 (a)
(Rattus norvegicus)
Mammalia Th 35
  • 84.04 (n)
  • 88.93 (a)
(Monodelphis domestica)
Mammalia TH 36
  • 61 (a)
(Ornithorhynchus anatinus)
Mammalia TH 36
  • 64 (a)
(Gallus gallus)
Aves TH 35
  • 74.81 (n)
  • 77.19 (a)
TH 36
  • 78 (a)
(Anolis carolinensis)
Reptilia TH 36
  • 70 (a)
tropical clawed frog
(Silurana tropicalis)
Amphibia LOC100488900 35
  • 68.37 (n)
  • 71.52 (a)
(Danio rerio)
Actinopterygii th 35
  • 67.14 (n)
  • 69.12 (a)
th 36
  • 70 (a)
fruit fly
(Drosophila melanogaster)
Insecta ple 37
  • 54 (a)
ple 35
  • 62.92 (n)
  • 55.5 (a)
ple 36
  • 40 (a)
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP006023 35
  • 63.16 (n)
  • 55.39 (a)
(Caenorhabditis elegans)
Secernentea cat-2 37
  • 53 (a)
cat-2 35
  • 54.37 (n)
  • 54.27 (a)
cat-2 36
  • 38 (a)
sea squirt
(Ciona savignyi)
Ascidiacea CSA.1716 36
  • 46 (a)
Species with no ortholog for TH:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for TH Gene

Gene Tree for TH (if available)
Gene Tree for TH (if available)

Paralogs for TH Gene

Paralogs for TH Gene

genes like me logo Genes that share paralogs with TH: view

Variants for TH Gene

Sequence variations from dbSNP and Humsavar for TH Gene

SNP ID Clin Chr 11 pos Sequence Context AA Info Type MAF
rs6356 Benign, - 2,169,721(-) AGGCC(A/G)TGCTA missense, reference
rs6357 -- 2,167,008(-) CTGAA(A/G)GGCCT synonymous-codon, reference
rs1800033 - 2,164,325(-) TCGAC(A/G)TGCTG missense, reference
rs2070762 -- 2,165,105(-) CCTGG(C/T)TGCAG intron-variant
rs3842721 -- 2,164,957(-) AGGAC(A/G)TCCTG intron-variant

Structural Variations from Database of Genomic Variants (DGV) for TH Gene

Variant ID Type Subtype PubMed ID
nsv467645 CNV Gain 19166990
dgv992n71 CNV Loss 21882294
nsv896776 CNV Loss 21882294
dgv994n71 CNV Loss 21882294
dgv995n71 CNV Loss 21882294
dgv997n71 CNV Loss 21882294
nsv896797 CNV Loss 21882294
nsv896798 CNV Loss 21882294
nsv469927 CNV Loss 18288195
nsv896801 CNV Loss 21882294

Relevant External Links for TH Gene

HapMap Linkage Disequilibrium report
Human Gene Mutation Database (HGMD)
Locus Specific Mutation Databases (LSDB)

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for TH Gene

Disorders for TH Gene

(1) OMIM Diseases for TH Gene (191290)


  • Segawa syndrome autosomal recessive (ARSEGS) [MIM:605407]: A form of DOPA-responsive dystonia presenting in infancy or early childhood. Dystonia is defined by the presence of sustained involuntary muscle contractions, often leading to abnormal postures. Some cases present with parkinsonian symptoms in infancy. Unlike all other forms of dystonia, it is an eminently treatable condition, due to a favorable response to L-DOPA. {ECO:0000269 PubMed:10585338, ECO:0000269 PubMed:11196107, ECO:0000269 PubMed:11246459, ECO:0000269 PubMed:15505183, ECO:0000269 PubMed:15747353, ECO:0000269 PubMed:16049992, ECO:0000269 PubMed:17696123, ECO:0000269 PubMed:18058633, ECO:0000269 PubMed:18554280, ECO:0000269 PubMed:19491146, ECO:0000269 PubMed:20056467, ECO:0000269 PubMed:20430833, ECO:0000269 PubMed:21940685, ECO:0000269 PubMed:22264700, ECO:0000269 PubMed:22815559, ECO:0000269 PubMed:23762320, ECO:0000269 PubMed:23939262, ECO:0000269 PubMed:24753243, ECO:0000269 PubMed:7814018, ECO:0000269 PubMed:9613851, ECO:0000269 PubMed:9703425}. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • Note=May play a role in the pathogenesis of Parkinson disease (PD). A genome-wide copy number variation analysis has identified a 34 kilobase deletion over the TH gene in a PD patient but not in any controls. {ECO:0000269 PubMed:20809526}.

(92) Novoseek inferred disease relationships for TH Gene

Disease -log(P) Hits PubMed IDs
parkinson disease 87.1 96
dystonia, dopa-responsive, autosomal recessive 76 1
gtp cyclohydrolase i deficiency 72.7 4
parkinsonism 70.2 14
pheochromocytoma 63 55

Relevant External Links for TH

Genetic Association Database (GAD)
Human Genome Epidemiology (HuGE) Navigator
genes like me logo Genes that share disorders with TH: view

No data available for Genatlas for TH Gene

Publications for TH Gene

  1. Association study of structural mutations of the tyrosine hydroxylase gene with schizophrenia and Parkinson's disease. (PMID: 9613851) Kunugi H. … Nanko S. (Am. J. Med. Genet. 1998) 3 4 23 48
  2. Exhaustive analysis of BH4 and dopamine biosynthesis genes in patients with Dopa-responsive dystonia. (PMID: 19491146) Clot F. … Brice A. (Brain 2009) 3 4 23 48
  3. Tyrosine hydroxylase and DOPA decarboxylase gene variants in personality traits. (PMID: 19221445) Giegling I. … Serretti A. (Neuropsychobiology 2009) 3 23 48
  4. Association study between a functional polymorphism of tyrosine hydroxylase gene promoter and personality traits in healthy subjects. (PMID: 19958792) Sadahiro R. … Otani K. (Behav. Brain Res. 2010) 3 23 48
  5. Biochemical and molecular characterization of tyrosine hydroxylase deficiency in Hong Kong Chinese. (PMID: 20056467) Mak C.M. … Chan Y.W. (Mol. Genet. Metab. 2010) 3 4 23

Products for TH Gene

Sources for TH Gene

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