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
361209852024Association of dopamine β-hydroxylase polymorphism rs1611115 and serum levels with psychiatric disorders in Pakistani population.0
387618582024Right thalamic volume mediates impact of the dopamine beta-hydroxylase gene on the endowment effect.0
361209852024Association of dopamine β-hydroxylase polymorphism rs1611115 and serum levels with psychiatric disorders in Pakistani population.0
387618582024Right thalamic volume mediates impact of the dopamine beta-hydroxylase gene on the endowment effect.0
371485232023Multifactor Dimensionality Reduction Analysis to Evaluate the Association of Dopamine Beta-Hydroxylase (DΒH) Polymorphisms with Susceptibility to Dementia (SADEM Study).1
374939232023Effect of rs1108580 of DBH and rs1006737 of CACNA1C on Cognition and Tardive Dyskinesia in a North Indian Schizophrenia Cohort.0
371485232023Multifactor Dimensionality Reduction Analysis to Evaluate the Association of Dopamine Beta-Hydroxylase (DΒH) Polymorphisms with Susceptibility to Dementia (SADEM Study).1
374939232023Effect of rs1108580 of DBH and rs1006737 of CACNA1C on Cognition and Tardive Dyskinesia in a North Indian Schizophrenia Cohort.0
361439052022Association between 19-bp Insertion/Deletion Polymorphism of Dopamine β-Hydroxylase and Autism Spectrum Disorder in Thai Patients.0
361439052022Association between 19-bp Insertion/Deletion Polymorphism of Dopamine β-Hydroxylase and Autism Spectrum Disorder in Thai Patients.0
347432842021Immunohistochemical Expression of Choline Acetyltransferase and Catecholamine-Synthesizing Enzymes in Head-and-Neck and Thoracoabdominal Paragangliomas and Pheochromocytomas.9
347432842021Immunohistochemical Expression of Choline Acetyltransferase and Catecholamine-Synthesizing Enzymes in Head-and-Neck and Thoracoabdominal Paragangliomas and Pheochromocytomas.9
317710692020Relationships of Cerebrospinal Fluid Alzheimer's Disease Biomarkers and COMT, DBH, and MAOB Single Nucleotide Polymorphisms.9
319130532020Association of regulatory variants of dopamine β-hydroxylase with cognition and tardive dyskinesia in schizophrenia subjects.2
328960032020Association between dopamine beta-hydroxylase polymorphism and attention function in suicide attempters with chronic schizophrenia.2

Citation

Dessen P

DBH (dopamine beta-hydroxylase)

Atlas Genet Cytogenet Oncol Haematol. 2016-10-01

Online version: http://atlasgeneticsoncology.org/gene/55960/gene-fusions-explorer/favicon/meetings/