TH (tyrosine hydroxylase)

2007-12-01 Affiliation

Identity

HGNC

LOCATION

11p15.5

LOCUSID

7054

ALIAS

DYT14,DYT5b,TYH

Non-annotated gene. Preliminary data : if you are an author who wish to write a full paper/card on this gene, contribute in submission tool

Other Information

Locus ID:

NCBI: 7054
MIM: 191290
HGNC: 11782
Ensembl: ENSG00000180176

Variants:

dbSNP: 7054
ClinVar: 7054
TCGA: ENSG00000180176
COSMIC: TH

RNA/Proteins

Gene ID	Transcript ID	Uniprot
ENSG00000180176	ENST00000324155	F8W8M5
ENSG00000180176	ENST00000333684	P07101
ENSG00000180176	ENST00000352909	P07101
ENSG00000180176	ENST00000381168	E7EQI0
ENSG00000180176	ENST00000381175	P07101
ENSG00000180176	ENST00000381178	P07101
ENSG00000180176	ENST00000412076	H0Y677
ENSG00000180176	ENST00000416223	H0Y670

Expression (GTEx)

Adipose - Subcutaneous

Adipose - Visceral

Adrenal Gland

Artery - Aorta

Artery - Tibial

Bladder

Brain - Amygdala

Brain - Anterior cingulate cortex

Brain - Caudate

Brain - Cerebellar Hemisphere

Brain - Cerebellum

Brain - Cortex

Brain - Frontal Cortex

Brain - Hippocampus

Brain - Hypothalamus

Brain - Nucleus accumbens

Brain - Putamen

Brain - Spinal cord

Brain - Substantia nigra

Breast - Mammary Tissue

Cells - Cultured fibroblasts

Cells - EBV - transformed lymphocytes

Cervix - Ectocervix

Cervix - Endocervix

Colon - Sigmoid

Colon - Transverse

Esophagus - Gastroesophageal Junction

Esophagus - Mucosa

Esophagus - Muscularis

Fallopian Tube

Heart - Atrial Appendage

Heart - Left Ventricle

Kidney - Cortex

Kidney - Medulla

Liver

Lung

Minor Salivary Gland

Muscle - Skeletal

Nerve - Tibial

Ovary

Pancreas

Pituitary

Prostate

Skin - Not Sun Exposed

Skin - Sun Exposed

Small Intestine - Terminal Ileum

Spleen

Stomach

Testis

Thyroid

Uterus

Vagina

Whole Blood

Pathways

Pathway	Source	External ID
Tyrosine metabolism	KEGG	ko00350
Tyrosine metabolism	KEGG	hsa00350
Parkinson's disease	KEGG	hsa05012
Metabolic pathways	KEGG	hsa01100
Catecholamine biosynthesis, tyrosine => dopamine => noradrenaline => adrenaline	KEGG	hsa_M00042
Catecholamine biosynthesis, tyrosine => dopamine => noradrenaline => adrenaline	KEGG	M00042
Dopaminergic synapse	KEGG	ko04728
Dopaminergic synapse	KEGG	hsa04728
Cocaine addiction	KEGG	hsa05030
Cocaine addiction	KEGG	ko05030
Amphetamine addiction	KEGG	hsa05031
Amphetamine addiction	KEGG	ko05031
Alcoholism	KEGG	hsa05034
Alcoholism	KEGG	ko05034
Prolactin signaling pathway	KEGG	hsa04917
Prolactin signaling pathway	KEGG	ko04917
Metabolism	REACTOME	R-HSA-1430728
Metabolism of amino acids and derivatives	REACTOME	R-HSA-71291
Amine-derived hormones	REACTOME	R-HSA-209776
Catecholamine biosynthesis	REACTOME	R-HSA-209905

Protein levels (Protein atlas)

Not detected

Low

Medium

High

PharmGKB

Entity ID	Name	Type	Evidence	Association	PD	PMIDs
PA445043	Opioid-Related Disorders	Disease	ClinicalAnnotation	associated	PD	29210332, 32232669
PA447197	Attention Deficit Disorder with Hyperactivity	Disease	ClinicalAnnotation	associated	PD	26810137
PA450464	methylphenidate	Chemical	ClinicalAnnotation	associated	PD	26810137
PA450487	metyrosine	Chemical	Pathway	associated
PA452618	opioids	Chemical	ClinicalAnnotation	associated	PD	29210332, 32232669

References

Pubmed ID	Year	Title	Citations
18583979	2008	Systematic meta-analyses and field synopsis of genetic association studies in schizophrenia: the SzGene database.	395
19767753	2009	Identification of seven new prostate cancer susceptibility loci through a genome-wide association study.	225
20675101	2010	MicroRNA expression profiling in the prefrontal cortex of individuals affected with schizophrenia and bipolar disorders.	105
19874574	2009	Genetical genomic determinants of alcohol consumption in rats and humans.	93
19913121	2009	Gene-centric association signals for lipids and apolipoproteins identified via the HumanCVD BeadChip.	85
16731528	2006	DJ-1 transcriptionally up-regulates the human tyrosine hydroxylase by inhibiting the sumoylation of pyrimidine tract-binding protein-associated splicing factor.	65
19156168	2009	Pharmacogenetics of antipsychotic response in the CATIE trial: a candidate gene analysis.	46
16636198	2006	Association study with 33 single-nucleotide polymorphisms in 11 candidate genes for hypertension in Chinese.	39
20734064	2010	A large-scale candidate gene association study of age at menarche and age at natural menopause.	38
17985144	2008	Reduced striatal tyrosine hydroxylase in incidental Lewy body disease.	37

Citation

Dessen P

TH (tyrosine hydroxylase)

Atlas Genet Cytogenet Oncol Haematol. 2007-12-01

Online version: http://atlasgeneticsoncology.org/gene/49894/th-(tyrosine-hydroxylase)