DBH (dopamine beta-hydroxylase)

2016-10-01  

Identity

HGNC
DBH
LOCATION
9q34.2
LOCUSID
1621
ALIAS
DBM,ORTHYP1

Other Information

Locus ID:

NCBI: 1621
MIM: 609312
HGNC: 2689
Ensembl: ENSG00000123454

Variants:

dbSNP: 1621
ClinVar: 1621
TCGA: ENSG00000123454
COSMIC: DBH

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000123454ENST00000263611Q5T382
ENSG00000123454ENST00000393056P09172

Expression (GTEx)

0
5
10
15
20
25
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

PathwaySourceExternal ID
Tyrosine metabolismKEGGko00350
Tyrosine metabolismKEGGhsa00350
Metabolic pathwaysKEGGhsa01100
Catecholamine biosynthesis, tyrosine => dopamine => noradrenaline => adrenalineKEGGhsa_M00042
Catecholamine biosynthesis, tyrosine => dopamine => noradrenaline => adrenalineKEGGM00042
MetabolismREACTOMER-HSA-1430728
Metabolism of amino acids and derivativesREACTOMER-HSA-71291
Amine-derived hormonesREACTOMER-HSA-209776
Catecholamine biosynthesisREACTOMER-HSA-209905

Protein levels (Protein atlas)

Not detected
Low
Medium
High
cerebral cortex
cerebellum
hippocampus
caudate
dorsal raphe
thyroid gland
parathyroid gland
adrenal gland
nasopharynx
bronchus
lung
oral mucosa
salivary gland
esophagus
stomach 1
stomach 2
duodenum
small intestine
colon
rectum
liver
gallbladder
pancreas
kidney
urinary bladder
testis
epididymis
seminal vesicle
prostate
vagina
ovary
fallopian tube
endometrium 1
endometrium 2
cervix, uterine
placenta
breast
heart muscle
smooth muscle
skeletal muscle
soft tissue 1
soft tissue 2
adipose tissue
skin 1
skin 2
appendix
spleen
lymph node
tonsil
bone marrow

PharmGKB

Entity IDNameTypeEvidenceAssociationPKPDPMIDs
PA164712362AnalgesicsChemicalClinicalAnnotationassociated25096645
PA164712462Antiinflammatory agents, non-steroidsChemicalClinicalAnnotationassociated25096645
PA164712741Ergot alkaloidsChemicalClinicalAnnotationassociated25096645
PA443309AlcoholismDiseaseClinicalAnnotationassociatedPD
PA445043Opioid-Related DisordersDiseaseClinicalAnnotationassociatedPD29210332
PA445768Substance Withdrawal SyndromeDiseaseClinicalAnnotationassociated25096645
PA446878Cocaine-Related DisordersDiseaseClinicalAnnotationassociatedPD24809448
PA447321Depressive Disorder, MajorDiseaseClinicalAnnotationassociatedPD22947179
PA448687bupropionChemicalClinicalAnnotationassociatedPD22947179
PA449376disulfiramChemicalPathwayassociated
PA450213levodopaChemicalClinicalAnnotationassociatedPD24809448
PA450588naltrexoneChemicalClinicalAnnotationassociatedPD
PA451566sumatriptanChemicalClinicalAnnotationassociated25096645
PA452618opioidsChemicalClinicalAnnotationassociatedPD25096645, 29210332

References

Pubmed IDYearTitleCitations
204188902010Genome-wide meta-analyses identify multiple loci associated with smoking behavior.463
195069062009Candidate gene studies of ADHD: a meta-analytic review.263
188215652008Genome-wide association scan of quantitative traits for attention deficit hyperactivity disorder identifies novel associations and confirms candidate gene associations.133
198745742009Genetical genomic determinants of alcohol consumption in rats and humans.93
199131212009Gene-centric association signals for lipids and apolipoproteins identified via the HumanCVD BeadChip.85
182071342008Genes controlling affiliative behavior as candidate genes for autism.56
191561682009Pharmacogenetics of antipsychotic response in the CATIE trial: a candidate gene analysis.46
150770092004Genetic variation in dopaminergic pathways and short-term effectiveness of the nicotine patch.43
216851872011Genome-wide association study of smoking behaviours in patients with COPD.43
207340642010A large-scale candidate gene association study of age at menarche and age at natural menopause.38

Citation

Dessen P

DBH (dopamine beta-hydroxylase)

Atlas Genet Cytogenet Oncol Haematol. 2016-10-01

Online version: http://atlasgeneticsoncology.org/gene/55960/dbh