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GeneE
27 sources retrieved Β· Most recent: April 2026 Β· Index updated 14 days ago
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DBH
dopamine beta-hydroxylase
Chromosome 9 Β· 9q34.2
NCBI Gene: 1621Ensembl: ENSG00000123454.13HGNC: HGNC:2689UniProt: P09172
231PubMed Papers
21Diseases
1Drugs
10Pathogenic Variants
CLINICAL
Clinical TrialsOMIM Disease Gene
DATA QUALITY
βœ“ Experimental GO Evidenceβœ“ Swiss-Prot Reviewed
norepinephrine biosynthetic processGO:0005615dopamine beta-monooxygenase activitycopper ion bindingorthostatic hypotension 1hypertensionessential hypertensioncardiovascular disease
✦AI Summary

DBH (dopamine beta-hydroxylase) encodes a copper-dependent enzyme that catalyzes the conversion of dopamine to norepinephrine, serving as the rate-limiting step in norepinephrine biosynthesis 1. The enzyme is highly expressed in the locus coeruleus and adrenal glands, with additional expression in sympathetically innervated organs including liver, lung, and heart 1. DBH functions through regulatory polymorphisms, particularly rs1611115 and rs1108580, which significantly affect mRNA expression levels in peripheral tissues and modulate sympathetic tone 1. These variants show profound tissue-specific effects, with 2- to 11-fold allelic expression differences in liver but minimal differences in brain regions 1. The gene's clinical significance extends to multiple disorders: variants are associated with cardiovascular phenotypes including potential protection against myocardial infarction 1, migraine susceptibility 2, and renal function through genetic covariance with norepinephrine secretion 3. DBH polymorphisms also influence neuropsychiatric conditions, with lower enzyme activity linked to PTSD susceptibility 4 and variants affecting attention-related phenotypes 5. The enzyme's role in maintaining dopamine-to-norepinephrine ratios makes it crucial for sympathetic nervous system function and multiple disease pathways 2.

Sources cited
1
DBH catalyzes dopamine to norepinephrine conversion, shows tissue-specific expression patterns, and regulatory variants affect mRNA expression and cardiovascular phenotypes
PMID: 25326128
2
DBH variants are associated with migraine susceptibility and maintain dopamine-to-norepinephrine ratios
PMID: 22875483
3
DBH shows genetic covariance with norepinephrine secretion and affects renal function
PMID: 24391727
4
Lower DBH activity is associated with PTSD susceptibility in combat veterans
PMID: 17853400
5
DBH variants are linked to sustained attention and other cognitive phenotypes
PMID: 18591481
Disease Associationsβ“˜21
orthostatic hypotension 1Open Targets
0.77Strong
hypertensionOpen Targets
0.59Moderate
essential hypertensionOpen Targets
0.56Moderate
cardiovascular diseaseOpen Targets
0.52Moderate
response to xenobiotic stimulusOpen Targets
0.43Moderate
genetic disorderOpen Targets
0.42Moderate
nicotine dependenceOpen Targets
0.37Weak
hypertension, pregnancy-inducedOpen Targets
0.34Weak
diabetes mellitusOpen Targets
0.33Weak
response to bronchodilatorOpen Targets
0.33Weak
Disorder of lipid metabolismOpen Targets
0.32Weak
Sensorineural hearing impairmentOpen Targets
0.12Weak
sensorineural hearing lossOpen Targets
0.12Weak
pulmonary arterial hypertensionOpen Targets
0.09Suggestive
hepatocellular carcinomaOpen Targets
0.09Suggestive
emphysemaOpen Targets
0.08Suggestive
chronic bronchitisOpen Targets
0.08Suggestive
major depressive disorderOpen Targets
0.08Suggestive
pachyonychia congenitaOpen Targets
0.07Suggestive
type 2 diabetes mellitusOpen Targets
0.07Suggestive
Orthostatic hypotension 1UniProt
Pathogenic Variants10
NM_000787.4(DBH):c.339+2T>CPathogenic
Orthostatic hypotension 1|not provided|Lymphoma
β˜…β˜…β˜†β˜†2025
NM_000787.4(DBH):c.1499del (p.Leu500fs)Pathogenic
Orthostatic hypotension 1
β˜…β˜…β˜†β˜†2024β†’ Residue 500
NM_000787.4(DBH):c.223C>T (p.Gln75Ter)Pathogenic
Orthostatic hypotension 1
β˜…β˜†β˜†β˜†2025β†’ Residue 75
NM_000787.4(DBH):c.1192-1G>ALikely pathogenic
Orthostatic hypotension 1
β˜…β˜†β˜†β˜†2024
NM_000787.4(DBH):c.945del (p.Gly316fs)Pathogenic
Orthostatic hypotension 1
β˜…β˜†β˜†β˜†2023β†’ Residue 316
NM_000787.4(DBH):c.1239_1242del (p.Thr413_His414insTer)Pathogenic
Orthostatic hypotension 1
β˜…β˜†β˜†β˜†2023β†’ Residue 413
NM_000787.4(DBH):c.1002C>A (p.Tyr334Ter)Pathogenic
Orthostatic hypotension 1
β˜…β˜†β˜†β˜†2022β†’ Residue 334
NM_000787.4(DBH):c.715A>T (p.Lys239Ter)Pathogenic
Orthostatic hypotension 1
β˜…β˜†β˜†β˜†2022β†’ Residue 239
NM_000787.4(DBH):c.382C>T (p.Gln128Ter)Pathogenic
Inborn genetic diseases
β˜…β˜†β˜†β˜†2022β†’ Residue 128
NM_000787.4(DBH):c.468dup (p.Lys157fs)Pathogenic
Orthostatic hypotension 1
β˜…β˜†β˜†β˜†2019β†’ Residue 157
View on ClinVar β†—
Drug Targets1
ZAMICASTATPhase II
Dopamine beta-hydroxylase inhibitor
pulmonary arterial hypertension
Related Genes
PNMTProtein interaction99%NPYProtein interaction98%SLC6A3Protein interaction96%TAC1Protein interaction95%AOC3Protein interaction94%LRTOMTProtein interaction92%
Tissue Expression6 tissues
Liver
100%
Brain
5%
Bone Marrow
2%
Ovary
2%
Lung
1%
Heart
1%
Gene Interaction Network
Click a node to explore
DBHPNMTNPYSLC6A3TAC1AOC3LRTOMT
PROTEIN STRUCTURE
Preparing viewer…
PDB4ZEL Β· 2.90 Γ… Β· X-ray
View on RCSB β†—
Constraintβ“˜
LOEUFβ“˜
0.94LoF Tolerant
pLIβ“˜
0.00Tolerant
Observed/Expected LoF0.74 [0.59–0.94]
RankingsWhere DBH stands among ~20K protein-coding genes
  • #1,734of 20,598
    Most Researched231 Β· top 10%
  • #2,827of 5,498
    Most Pathogenic Variants10
  • #8,682of 17,882
    Most Constrained (LOEUF)0.94
Genes detectedDBH
Sources retrieved27 papers
Response timeβ€”
πŸ“„ Sources
27β–Ό
1
Regulatory polymorphisms in human DBH affect peripheral gene expression and sympathetic activity.
PMID: 25326128
Circ Res Β· 2014
1.00
2
Identification of a novel ANKK1 and other dopaminergic (DRD2 and DBH) gene variants in migraine susceptibility.
PMID: 22875483
Neuromolecular Med Β· 2013
0.90
3
Association Between Polymorphisms of DRD2, COMT, DBH, and MAO-A Genes and Migraine Susceptibility: A Meta-Analysis.
PMID: 26632697
Medicine (Baltimore) Β· 2015
0.80
4
Dopamine beta-hydroxylase (DBH) gene and schizophrenia phenotypic variability: a genetic association study.
PMID: 12555232
Am J Med Genet B Neuropsychiatr Genet Β· 2003
0.72
5
Molecular genetics of attention.
PMID: 18591481
Ann N Y Acad Sci Β· 2008
0.70