DBH Gene

Name	dopamine beta-hydroxylase (dopamine beta-monooxygenase)
Description	The protein encoded by this gene is an oxidoreductase belonging to the copper type II, ascorbate-dependent monooxygenase family. The encoded protein, expressed in neuroscretory vesicles and chromaffin granules of the adrenal medulla, catalyzes the conversion of dopamine to norepinephrine, which functions as both a hormone and as the main neurotransmitter of the sympathetic nervous system. The enzyme encoded by this gene exists exists in both soluble and membrane-bound forms, depending on the absence or presence, respectively, of a signal peptide. Mutations in this gene cause dopamine beta-hydroxylate deficiency in human patients, characterized by deficits in autonomic and cardiovascular function, including hypotension and ptosis. Polymorphisms in this gene may play a role in a variety of psychiatric disorders. [provided by RefSeq, Aug 2017]
Summary	{"type": "root", "children": [{"type": "p", "children": [{"type": "t", "text": "\n Dopamine β‐hydroxylase (DBH) is a copper‐dependent enzyme that catalyzes the hydroxylation of dopamine to generate norepinephrine, a pivotal reaction in catecholamine biosynthesis that determines the noradrenergic phenotype of both central and peripheral neurons."}, {"type": "fg", "children": [{"type": "fg_f", "ref": "1"}]}, {"type": "t", "text": " Its activity is critical not only during neuronal development—where transcriptional regulators such as PHOX2B and GATA3 modulate DBH expression in sympathoadrenal precursors"}, {"type": "fg", "children": [{"type": "fg_f", "ref": "3"}]}, {"type": "t", "text": "—but also in mature systems. For example, DBH plays an essential role in sympathetic neurotransmission that controls peripheral functions including the regulation of lipolysis in adipose tissue"}, {"type": "fg", "children": [{"type": "fg_f", "ref": "5"}]}, {"type": "t", "text": ", and it is expressed in specialized sensory cells such as CD36‐positive gustatory cells, where it contributes to the local synthesis and release of noradrenaline."}, {"type": "fg", "children": [{"type": "fg_f", "ref": "6"}]}, {"type": "t", "text": " In addition, DBH serves as a valuable molecular marker; its expression helps delineate catecholaminergic and noradrenergic populations in studies of neurodegeneration"}, {"type": "fg", "children": [{"type": "fg_f", "ref": "7"}]}, {"type": "t", "text": ", while its catalytic core, as revealed by structural analyses, underscores unique dimeric arrangements and copper‐dependent catalytic properties that are essential for its enzymatic function."}, {"type": "fg", "children": [{"type": "fg_f", "ref": "8"}, {"type": "fg_f", "ref": "2"}]}, {"type": "t", "text": ""}]}, {"type": "t", "text": "\n \n "}, {"type": "p", "children": [{"type": "t", "text": "\n Furthermore, genetic variants in the DBH gene have been associated with alterations in neuropsychiatric and behavioral phenotypes. Polymorphisms in DBH influence not only the susceptibility to disorders such as attention‐deficit/hyperactivity disorder"}, {"type": "fg", "children": [{"type": "fg_f", "ref": "9"}]}, {"type": "t", "text": ", but they also modulate therapeutic responses—for instance, affecting the efficacy of nicotine patch therapy in smoking cessation."}, {"type": "fg", "children": [{"type": "fg_f", "ref": "10"}]}, {"type": "t", "text": " DBH may further interact with other genetic factors, as suggested by studies linking vitamin D receptor variants to altered DBH‐related pathways in neurodegenerative conditions."}, {"type": "fg", "children": [{"type": "fg_f", "ref": "11"}]}, {"type": "t", "text": "\n "}]}, {"type": "t", "text": "\n \n "}, {"type": "p", "children": [{"type": "t", "text": "\n Overall, DBH emerges as a multifunctional enzyme that is not only central to the synthesis of norepinephrine but also integral to neuronal differentiation, synaptic modulation, and peripheral neurophysiological processes. Its diverse roles make it a critical target in understanding—and eventually treating—a wide range of neurological and psychiatric disorders."}, {"type": "fg", "children": [{"type": "fg_f", "ref": "1"}, {"type": "fg_f", "ref": "5"}, {"type": "fg_f", "ref": "3"}, {"type": "fg_f", "ref": "10"}, {"type": "fg_f", "ref": "9"}, {"type": "fg_f", "ref": "11"}]}, {"type": "t", "text": "\n "}]}, {"type": "rg", "children": [{"type": "r", "ref": 1, "children": [{"type": "t", "text": "Kwang-Soo Kim, Chun-Hyung Kim, Dong-Youn Hwang, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Orphan nuclear receptor Nurr1 directly transactivates the promoter activity of the tyrosine hydroxylase gene in a cell-specific manner."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "J Neurochem (2003)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1046/j.1471-4159.2003.01671.x"}], "href": "https://doi.org/10.1046/j.1471-4159.2003.01671.x"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "12694388"}], "href": "https://pubmed.ncbi.nlm.nih.gov/12694388"}]}, {"type": "r", "ref": 2, "children": [{"type": "t", "text": "Trine V Vendelboe, Pernille Harris, Yuguang Zhao, et al. "}, {"type": "b", "children": [{"type": "t", "text": "The crystal structure of human dopamine β-hydroxylase at 2.9 Å resolution."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Sci Adv (2016)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1126/sciadv.1500980"}], "href": "https://doi.org/10.1126/sciadv.1500980"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "27152332"}], "href": "https://pubmed.ncbi.nlm.nih.gov/27152332"}]}, {"type": "r", "ref": 3, "children": [{"type": "t", "text": "Mayumi Nagashimada, Hiroshi Ohta, Chong Li, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Autonomic neurocristopathy-associated mutations in PHOX2B dysregulate Sox10 expression."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "J Clin Invest (2012)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1172/JCI63401"}], "href": "https://doi.org/10.1172/JCI63401"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "22922260"}], "href": "https://pubmed.ncbi.nlm.nih.gov/22922260"}]}, {"type": "r", "ref": 4, "children": [{"type": "t", "text": "Takashi Moriguchi, Nakano Takako, Michito Hamada, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Gata3 participates in a complex transcriptional feedback network to regulate sympathoadrenal differentiation."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Development (2006)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1242/dev.02553"}], "href": "https://doi.org/10.1242/dev.02553"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "16943277"}], "href": "https://pubmed.ncbi.nlm.nih.gov/16943277"}]}, {"type": "r", "ref": 5, "children": [{"type": "t", "text": "Wenwen Zeng, Roksana M Pirzgalska, Mafalda M A Pereira, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Sympathetic neuro-adipose connections mediate leptin-driven lipolysis."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Cell (2015)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1016/j.cell.2015.08.055"}], "href": "https://doi.org/10.1016/j.cell.2015.08.055"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "26406372"}], "href": "https://pubmed.ncbi.nlm.nih.gov/26406372"}]}, {"type": "r", "ref": 6, "children": [{"type": "t", "text": "Abdelghani El-Yassimi, Aziz Hichami, Philippe Besnard, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Linoleic acid induces calcium signaling, Src kinase phosphorylation, and neurotransmitter release in mouse CD36-positive gustatory cells."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "J Biol Chem (2008)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1074/jbc.M707478200"}], "href": "https://doi.org/10.1074/jbc.M707478200"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "18321850"}], "href": "https://pubmed.ncbi.nlm.nih.gov/18321850"}]}, {"type": "r", "ref": 7, "children": [{"type": "t", "text": "Dagmar Galter, Silvia Buervenich, Andrea Carmine, et al. "}, {"type": "b", "children": [{"type": "t", "text": "ALDH1 mRNA: presence in human dopamine neurons and decreases in substantia nigra in Parkinson's disease and in the ventral tegmental area in schizophrenia."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Neurobiol Dis (2003)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1016/j.nbd.2003.09.001"}], "href": "https://doi.org/10.1016/j.nbd.2003.09.001"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "14678778"}], "href": "https://pubmed.ncbi.nlm.nih.gov/14678778"}]}, {"type": "r", "ref": 8, "children": [{"type": "t", "text": "Natalie Barnes, Ruslan Tsivkovskii, Natalia Tsivkovskaia, et al. "}, {"type": "b", "children": [{"type": "t", "text": "The copper-transporting ATPases, menkes and wilson disease proteins, have distinct roles in adult and developing cerebellum."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "J Biol Chem (2005)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1074/jbc.M413840200"}], "href": "https://doi.org/10.1074/jbc.M413840200"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "15634671"}], "href": "https://pubmed.ncbi.nlm.nih.gov/15634671"}]}, {"type": "r", "ref": 9, "children": [{"type": "t", "text": "Karen Müller Smith, Mark Daly, Mariellen Fischer, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Association of the dopamine beta hydroxylase gene with attention deficit hyperactivity disorder: genetic analysis of the Milwaukee longitudinal study."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Am J Med Genet B Neuropsychiatr Genet (2003)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1002/ajmg.b.20005"}], "href": "https://doi.org/10.1002/ajmg.b.20005"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "12707943"}], "href": "https://pubmed.ncbi.nlm.nih.gov/12707943"}]}, {"type": "r", "ref": 10, "children": [{"type": "t", "text": "Elaine C Johnstone, Patricia L Yudkin, Kate Hey, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Genetic variation in dopaminergic pathways and short-term effectiveness of the nicotine patch."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Pharmacogenetics (2004)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1097/00008571-200402000-00002"}], "href": "https://doi.org/10.1097/00008571-200402000-00002"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "15077009"}], "href": "https://pubmed.ncbi.nlm.nih.gov/15077009"}]}, {"type": "r", "ref": 11, "children": [{"type": "t", "text": "Markus Schürks "}, {"type": "b", "children": [{"type": "t", "text": "Genetics of migraine in the age of genome-wide association studies."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "J Headache Pain (2012)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1007/s10194-011-0399-0"}], "href": "https://doi.org/10.1007/s10194-011-0399-0"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "22072275"}], "href": "https://pubmed.ncbi.nlm.nih.gov/22072275"}]}]}]}
Synonyms	DBM
Proteins	DOPO_HUMAN
NCBI Gene ID	1621
API
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Predicted Functions
Co-expressed Genes
Expression in Tissues and Cell Lines

Functional Associations

DBH has 7,504 functional associations with biological entities spanning 9 categories (molecular profile, organism, chemical, disease, phenotype or trait, functional term, phrase or reference, structural feature, cell line, cell type or tissue, gene, protein or microRNA, sequence feature) extracted from 126 datasets.

Click the + buttons to view associations for DBH from the datasets below.

If available, associations are ranked by standardized value

Harmonizome 3.0

DBH Gene

Functional Associations

Please acknowledge the Harmonizome in your publications by citing the following reference(s):

	Dataset	Summary
	Achilles Cell Line Gene Essentiality Profiles	cell lines with fitness changed by DBH gene knockdown relative to other cell lines from the Achilles Cell Line Gene Essentiality Profiles dataset.
	Allen Brain Atlas Adult Human Brain Tissue Gene Expression Profiles	tissues with high or low expression of DBH gene relative to other tissues from the Allen Brain Atlas Adult Human Brain Tissue Gene Expression Profiles dataset.
	Allen Brain Atlas Adult Mouse Brain Tissue Gene Expression Profiles	tissues with high or low expression of DBH gene relative to other tissues from the Allen Brain Atlas Adult Mouse Brain Tissue Gene Expression Profiles dataset.
	Allen Brain Atlas Aging Dementia and Traumatic Brain Injury Tissue Sample Gene Expression Profiles	tissue samples with high or low expression of DBH gene relative to other tissue samples from the Allen Brain Atlas Aging Dementia and Traumatic Brain Injury Tissue Sample Gene Expression Profiles dataset.
	Allen Brain Atlas Developing Human Brain Tissue Gene Expression Profiles by Microarray	tissue samples with high or low expression of DBH gene relative to other tissue samples from the Allen Brain Atlas Developing Human Brain Tissue Gene Expression Profiles by Microarray dataset.
	Allen Brain Atlas Developing Human Brain Tissue Gene Expression Profiles by RNA-seq	tissue samples with high or low expression of DBH gene relative to other tissue samples from the Allen Brain Atlas Developing Human Brain Tissue Gene Expression Profiles by RNA-seq dataset.
	Allen Brain Atlas Prenatal Human Brain Tissue Gene Expression Profiles	tissues with high or low expression of DBH gene relative to other tissues from the Allen Brain Atlas Prenatal Human Brain Tissue Gene Expression Profiles dataset.
	BioGPS Cell Line Gene Expression Profiles	cell lines with high or low expression of DBH gene relative to other cell lines from the BioGPS Cell Line Gene Expression Profiles dataset.
	BioGPS Human Cell Type and Tissue Gene Expression Profiles	cell types and tissues with high or low expression of DBH gene relative to other cell types and tissues from the BioGPS Human Cell Type and Tissue Gene Expression Profiles dataset.
	BioGPS Mouse Cell Type and Tissue Gene Expression Profiles	cell types and tissues with high or low expression of DBH gene relative to other cell types and tissues from the BioGPS Mouse Cell Type and Tissue Gene Expression Profiles dataset.
	Carcinogenome Chemical Perturbation Carcinogenicity Signatures	small molecule perturbations changing expression of DBH gene from the Carcinogenome Chemical Perturbation Carcinogenicity Signatures dataset.
	CCLE Cell Line Gene CNV Profiles	cell lines with high or low copy number of DBH gene relative to other cell lines from the CCLE Cell Line Gene CNV Profiles dataset.
	CCLE Cell Line Gene Expression Profiles	cell lines with high or low expression of DBH gene relative to other cell lines from the CCLE Cell Line Gene Expression Profiles dataset.
	CellMarker Gene-Cell Type Associations	cell types associated with DBH gene from the CellMarker Gene-Cell Type Associations dataset.
	ChEA Transcription Factor Binding Site Profiles	transcription factor binding site profiles with transcription factor binding evidence at the promoter of DBH gene from the CHEA Transcription Factor Binding Site Profiles dataset.
	ChEA Transcription Factor Targets	transcription factors binding the promoter of DBH gene in low- or high-throughput transcription factor functional studies from the CHEA Transcription Factor Targets dataset.
	ChEA Transcription Factor Targets 2022	transcription factors binding the promoter of DBH gene in low- or high-throughput transcription factor functional studies from the CHEA Transcription Factor Targets 2022 dataset.
	ClinVar Gene-Phenotype Associations	phenotypes associated with DBH gene from the curated ClinVar Gene-Phenotype Associations dataset.
	ClinVar Gene-Phenotype Associations 2025	phenotypes associated with DBH gene from the curated ClinVar Gene-Phenotype Associations 2025 dataset.
	CM4AI KOLF21J CRISPRi Gene Perturbation Atlas	gene perturbations changing expression of DBH gene from the CM4AI KOLF21J CRISPRi Gene Perturbation Atlas dataset.
	CMAP Signatures of Differentially Expressed Genes for Small Molecules	small molecule perturbations changing expression of DBH gene from the CMAP Signatures of Differentially Expressed Genes for Small Molecules dataset.
	COMPARTMENTS Curated Protein Localization Evidence Scores	cellular components containing DBH protein from the COMPARTMENTS Curated Protein Localization Evidence Scores dataset.
	COMPARTMENTS Curated Protein Localization Evidence Scores 2025	cellular components containing DBH protein from the COMPARTMENTS Curated Protein Localization Evidence Scores 2025 dataset.
	COMPARTMENTS Text-mining Protein Localization Evidence Scores	cellular components co-occuring with DBH protein in abstracts of biomedical publications from the COMPARTMENTS Text-mining Protein Localization Evidence Scores dataset.
	COMPARTMENTS Text-mining Protein Localization Evidence Scores 2025	cellular components co-occuring with DBH protein in abstracts of biomedical publications from the COMPARTMENTS Text-mining Protein Localization Evidence Scores 2025 dataset.
	COSMIC Cell Line Gene Mutation Profiles	cell lines with DBH gene mutations from the COSMIC Cell Line Gene Mutation Profiles dataset.
	CTD Gene-Chemical Interactions	chemicals interacting with DBH gene/protein from the curated CTD Gene-Chemical Interactions dataset.
	CTD Gene-Disease Associations	diseases associated with DBH gene/protein from the curated CTD Gene-Disease Associations dataset.
	DepMap CRISPR Gene Dependency	cell lines with fitness changed by DBH gene knockdown relative to other cell lines from the DepMap CRISPR Gene Dependency dataset.
	DGIdb Drug Targets 2026	interacting drugs for DBH protein from the DGIdb Drug Targets 2026 dataset.
	DISEASES Curated Gene-Disease Association Evidence Scores 2025	diseases involving DBH gene from the DISEASES Curated Gene-Disease Association Evidence Scores 2025 dataset.
	DISEASES Experimental Gene-Disease Association Evidence Scores 2025	diseases associated with DBH gene in GWAS datasets from the DISEASES Experimental Gene-Disease Assocation Evidence Scores 2025 dataset.
	DISEASES Text-mining Gene-Disease Association Evidence Scores	diseases co-occuring with DBH gene in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores dataset.
	DISEASES Text-mining Gene-Disease Association Evidence Scores 2025	diseases co-occuring with DBH gene in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset.
	DisGeNET Gene-Disease Associations	diseases associated with DBH gene in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.
	DisGeNET Gene-Phenotype Associations	phenotypes associated with DBH gene in GWAS and other genetic association datasets from the DisGeNET Gene-Phenoptype Associations dataset.
	DrugBank Drug Targets	interacting drugs for DBH protein from the curated DrugBank Drug Targets dataset.
	ENCODE Histone Modification Site Profiles	histone modification site profiles with high histone modification abundance at DBH gene from the ENCODE Histone Modification Site Profiles dataset.
	ENCODE Transcription Factor Binding Site Profiles	transcription factor binding site profiles with transcription factor binding evidence at the promoter of DBH gene from the ENCODE Transcription Factor Binding Site Profiles dataset.
	ENCODE Transcription Factor Targets	transcription factors binding the promoter of DBH gene in ChIP-seq datasets from the ENCODE Transcription Factor Targets dataset.