DBH - dopamine beta-hydroxylase Gene

Also Known as DBM; ORTHYP1

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 1621

About DBH

Cytogenetic location: 9q34.2 Genomic coordinates (GRCh38): 9:133,636,363-133,659,329 (from NCBI)

This gene has 2 transcripts (splice variants), 200 orthologues, 1 paralogue and is associated with 2 phenotypes. Biased expression in adrenal (RPKM 148.5) and liver (RPKM 11.0).

Summary

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]

DBH Products (1)

mRNA	Protein	Name
NM_000787.4	NP_000778.3	dopamine beta-hydroxylase precursor

Gene Ontology

Molecular Function
Biological Process
Cellular Component

Molecular Function GO Annotation	Evidence	References	Source
enables copper ion binding	IDA IDA: Inferred from direct assay	7961964	GOA
enables dopamine beta-monooxygenase activity	IDA IDA: Inferred from direct assay	3443096	GOA
enables protein binding	IPI IPI: Inferred from physical interaction	26199316	GOA

Biological Process GO Annotation	Evidence	References	Source
involved in dopamine catabolic process	IDA IDA: Inferred from direct assay	3443096	GOA
involved in norepinephrine biosynthetic process	IMP IMP: Inferred from mutant phenotype	27148966	GOA

Cellular Component GO Annotation	Evidence	References	Source
located in extracellular space	IDA IDA: Inferred from direct assay	7961964	GOA
located in secretory granule lumen	IDA IDA: Inferred from direct assay	7961964	GOA
located in secretory granule membrane	IDA IDA: Inferred from direct assay	7961964	GOA

EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

DBH Protein Structure

DOMON

Cu2_monooxygen

Cu2_monoox_C

0
100
200
300
400
500
617 a.a.

Protein Preferred Names	Protein Names
dopamine beta-hydroxylase	dopamine beta-hydroxylase (dopamine beta-monooxygenase)

DBH Protein-protein interaction Information

Type	Protein Name	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	References
Intra	DBH	P09172	NOTCH2NLC	Homo sapiens	P0DPK4	Y2H Prey Pooling	32296183
Intra	DBH	P09172	NOTCH2NLC	Homo sapiens	P0DPK4	Validated Y2H	32296183
Intra	DBH	P09172	NOTCH2NLC	Homo sapiens	P0DPK4	Y2H Array	32296183

Cross: Cross-species interaction Intra: Intraspecies interaction

Recombinant DBH Proteins

Cat. No.	Product Name	Accession	Purity
HY-P76874	Dopamine beta-Hydroxylase Protein, Human (HEK293, His)	P09172 (A41-G617)	≥ 90%, as determined by reducing SDS-PAGE.

DBH Antibodies

Cat. No.	Product Name	Application	Reactivity
HY-P810788	Dopamine beta Hydroxylase Antibody (YA10031)	WB, IHC-P	Human
HY-P86857	Dopamine beta Hydroxylase Antibody (YA6550)	WB	Human

Related Diseases

Diseases	Alias
Schizophreniform Disorder	Schizophreniform Disorders Psychotic Disorders
Stuttering	Stammering Familial Persistent Stuttering Stuttering, Familial Persistent 1
Tuberous Sclerosis	Tuberous Sclerosis Syndrome Bourneville'S Disease Epiloia Cerebral Sclerosis Tuberose Sclerosis Tuberous Sclerosis 1 Bourneville Disease Bourneville Phakomatosis Pringle'S Disease
Drug Dependence
Pure Autonomic Failure	Orthostatic Hypotension Idiopathic Orthostatic Hypotension Postural Hypotension Bradbury-Eggleston Syndrome Bradbury Eggleston Syndrome Hypotension, Orthostatic Hypotension, Postural Paf Pure Dysautonomia Pure Idiopatic Dysautonomia Hypotension Orthostatic Primary Orthostatic Hypotension Chronic Orthostatic Hypotension
Syncope
Conduct Disorder
Menkes Disease	Menkes Syndrome Copper Transport Disease MNK Kinky Hair Disease Steely Hair Disease Menkes Kinky-Hair Syndrome Mk Steely Hair Syndrome Menkea Syndrome Md Menkes Kinky Hair Syndrome Hypocupremia, Congenital Kinky Hair Syndrome X-Linked Copper Deficiency Menkes Kinky Hair Disease
Autonomic Neuropathy	Diabetic Autonomic Neuropathy
Placental Insufficiency	Uteroplacental Vascular Insufficiency
Neuroblastoma	Nb Neuroblastoma, Susceptibility To Neuroblastomas Central Neuroblastoma
Migraine With Or Without Aura 1	Migraine Migraine With Or Without Aura, Susceptibility To, 1 Migraine Disorder Migraine Variant Migraines Migraine Disorders Mgr1 Mgau Ma Migraine With Or Without Aura Classic Migraine Common Migraine Disorder, Migraine Headache Migraine Headache Migrainous Migraine Headache Migraine Syndrome Headache Including Migraine Migraine, Susceptibility To
Cocaine Abuse	Cocaine-Related Disorders
Hypertension, Essential	Essential Hypertension Hypertension High Blood Pressure Hypertension, Essential, Susceptibility To Hypertensive Disease Primary Hypertension EHT Hypertension, Salt-Sensitive Essential, Susceptibility To Hyperpiesia Idiopathic Hypertension Hypertensive Disorder Hypertension, Essential, Susceptibility To, 3 Hypertension, Essential 3 Hypertension, Essential, Salt-Sensitive Hypertension, Essential, Susceptibility To, 6 Hypertension, Essential 6 Hypertension, Salt-Sensitive Essential Hypertension, Susceptibility To Hypertension, Essential, Susceptibility To, 4 Hypertension, Essential 4 Hypertension, Essential, Susceptibility To, 2 Hypertension, Essential 2 Hypertension, Essential, Susceptibility To, 1 Hypertension, Essential 1 Hypertension, Essential, Susceptibility To, 5 Hypertension, Essential 5 Htn Vascular Hypertensive Disorder Systemic Primary Arterial Hypertension Hbp - [High Blood Pressure] Systemic Arterial Hypertensive Disorder Elevated Blood Pressure Arterial Hypertension Nos Hypertension Nos Benign Hypertension Systemic Arterial Hypertension Systemic Hypertension Artery Htn Benign Htn Vascular Htn Vascular Hypertension Cholesterol Hypertension Cholesterol Htn Idiopathic Htn Malignant Hypertension Malignant Htn Raised Blood Pressure Cardiovascular Hypertension Primary Htn - [Hypertension] High Arterial Tension High Blood Pressure Disorder Ht - [Hypertension] Htn - [Hypertension] Hypertensive Vascular Disease Hypertensive Vascular Degeneration
Bipolar Disorder	Bipolar Depression Manic Disorder Depression, Bipolar Bipolar Disorder Manic Phase Depressive-Manic Psych. Manic Bipolar Affective Disorder Manic Bipolar I Disorder Manic Depression Manic Depressive Disorder Mixed Bipolar Disorder Bipolar Affective Disorder Bipolar Affective Psychosis Bipolar Spectrum Disorder Manic Depressive Illness Depression Bipolar Bipolar Disorder, Mixed Major Affective Disorder Major Affective Disorder 1 Major Affective Disorder 2
Spinal Muscular Atrophy, Distal, X-Linked 3	SMAX3 Dsmax X-Linked Distal Spinal Muscular Atrophy Type 3 X-Linked Distal Spinal Muscular Atrophy 3 Atp7a-Related Distal Motor Neuropathy X-Linked Dhmn3 X-Linked Distal Hereditary Motor Neuropathy Type 3 X-Linked Dsma3 Spinal Muscular Atrophy, Distal, X-Linked Recessive X-Linked Recessive Distal Spinal Muscular Atrophy Distal Spinal Muscular Atrophy, X-Linked, 3 DSMAX3 Spinal Muscular Atrophy Distal X-Linked Recessive Atrophy, Muscular, Spinal, Distal, X-Linked, Type 3
Hyperprolactinemia	Chiari-Frommel Syndrome Hyperprolactinaemia Familial Hyperprolactinemia HPRL Pregnancy-Related A-G Syndrome Familial Isolated Prolactin Receptor Deficiency
Oppositional Defiant Disorder	Disorder Oppositional Defiance Behavioural Disorder Oppositional Defiance Disruptive Mood Dysregulation Disorder
Renal Hypertension	Hypertension Renal Hypertension, Renal
Alcohol Dependence	Alcoholism Alcohol Dependence, Susceptibility To Aerodigestive Tract Cancer, Squamous Cell, Alcohol-Related, Protection Against Alcohol Dependence, Protection Against Alcoholism, Susceptibility To Alcoholic Intoxication, Chronic Pharyngeal Neoplasms Chronic Alcoholism Dipsomania Alcohol Addiction Ethanol Dependence Chronic Ethanolism Chronic Alcoholic Disease Nos Alcoholic Disease Nos Alcoholic
Congenital Central Hypoventilation Syndrome	Cchs Haddad Syndrome Ondine Curse Ondine Syndrome Congenital Central Hypoventilation Congenital Central Alveolar Hypoventilation Syndrome Congenital Failure Of Autonomic Control Ondine'S Curse Primary Alveolar Hypoventilation Ondine-Hirschsprung Disease Central Congenital Hypoventilation Syndrome Congenital Ondine Curse Idiopathic Congenital Central Alveolar Hypoventilation Congenital Central Alveolar Hypoventilation-Hirschsprung Disease Syndrome Ondine-Hirschsprung Syndrome
Tobacco Addiction	Nicotine Dependence Tobacco Addiction, Susceptibility To Nicotine Addiction Tobacco Use Disorder Smoking Habit Nicotine Dependence, Protection Against Nicotine Addiction, Protection From Cigarette Habituation Cigarette Habituation, Susceptibility To Smoking Habit, Susceptibility To Nicotine Dependence, Susceptibility To Nicotine Addiction, Susceptibility To Addiction, Tobacco, Susceptibility To Compulsive Tobacco User Syndrome Tobacco Dependence Tobacco Dependence Syndrome Cigarette Addiction Cigarette Dependence Smoking Addiction Smokers Syndrome
Orthostatic Intolerance	Mitral Valve Prolapse Neurocirculatory Asthenia Mitral Valve Prolapse Syndrome Irritable Heart Systolic Click-Murmur Syndrome Soldiers Heart Cardiovascular Malfunction Arising From Mental Factors Cardiovascular Neurosis Da Costa'S Syndrome Krishaber'S Disease Barlow'S Syndrome Floppy Mitral Valve Mitral Leaflet Syndrome Myxomatous Mitral Valve Prolapse Postural Orthostatic Tachycardia Syndrome Due To Net Deficiency Familial Orthostatic Tachycardia Due To Norepinephrine Transporter Deficiency Orthostatic Intolerance Due To Net Deficiency Pots Due To Net Deficiency OI Intolerance, Orthostatic Mitral Valve Prolapse, Familial, X-Linked Ballooning Mitral Valve Barlow Syndrome Flail Mitral Leaflet Myxomatous Mitral Valve Mitral Valve Prolapse-Click Syndrome Prolapsing Mitral Valve Leaflet Syndrome Billowing Mitral Valve Leaflet Posterior Mitral Leaflet Deformity Ballooning Posterior Leaflet Syndrome Blue Valve Syndrome Floppy Mitral Valve Syndrome Mitral Valvular Prolapse Systolic Click Syndrome
Dystonia	Dystonic Disease Dystonic Disorder Dystonia Disorders Neuroleptic Dyskinesia
Paraganglioma	Chemodectoma Glomus Body Tumor Paragangliomas Carotid Body Paraganglioma Extra-Adrenal Paraganglioma
Dopamine Beta-Hydroxylase Deficiency	Noradrenaline Deficiency Norepinephrine Deficiency Dopamine Beta Hydroxylase Deficiency Congenital Dopamine Beta-Hydroxylase Deficiency Dopamine Beta-Hydroxylase Deficiency, Congenital Dopamine Β-Hydroxylase Dbh Deficiency
Attention Deficit-Hyperactivity Disorder	Attention Deficit Hyperactivity Disorder ADHD Attention Deficit Disorder Attention Deficit-Hyperactivity Disorder, Susceptibility To Attention Deficit Disorder With Hyperactivity Hyperkinetic Disorder Hyperactivity Of Childhood Attention-Deficit/Hyperactivity Disorder Add Addh Attention Deficit Attention Deficit Disorder Of Childhood With Hyperactivity Attention Deficit Disorder With Hyperactivity Syndrome Hyperkinetic Syndrome Attention-Deficit Hyperactivity Disorder Attention-Deficit/Hyperactivity Disorder, Predominantly Inattentive Type Disturbance Of Activity And Attention Disorder Of Activity And Attention Adhd - [Attention Deficit Hyperactivity Disorder] Hyperkinetic Disorders Disorder Of Activity And Attention With Hyperkinesia Attention Deficit Syndrome With Hyperactivity
Neuropathy, Hereditary Sensory And Autonomic, Type Iii	Familial Dysautonomia Riley-Day Syndrome Dysautonomia, Familial HSAN3 Hsan Iii Fd Hereditary Sensory And Autonomic Neuropathy Type Iii Dys Hereditary Sensory And Autonomic Neuropathy 3 Riley Day Syndrome Familial Autonomic Nervous Dysfunction Hereditary Sensory Autonomic Neuropathy Type Iii Hsan 3 Hsn 3 Hereditary Sensory Neuropathy Type 3 Hsan Type Iii Hsn-Iii Hereditary Sensory And Autonomic Neuropathy Type 3 Neuropathy, Hereditary Sensory And Autonomic, 3 Hsn Iii Dysautonomia Familial Neuropathy, Sensory And Autonomic, Hereditary, Type Iii Hsan3 - [Hereditary Sensory And Autonomic Neuropathy Type 3]
Parkinson Disease, Late-Onset	Parkinson Disease Parkinson'S Disease PD PARK Parkinson Disease, Susceptibility To Late Onset Parkinson'S Disease Late Onset Parkinson Disease Paralysis Agitans Primary Parkinsonism Idiopathic Parkinson Disease Parkinson'S Parkinson Disease, Late-Onset, Susceptibility To Parkinson Disease, Age Of Onset, Modifier Lewy Body Parkinson Disease Idiopathic Parkinson'S Disease Pd - [Parkinson Disease] Parkinson Disease Nos Parkinson, Nos Primary Parkinson Disease
Orthostatic Hypotension 1	Norepinephrine Deficiency ORTHYP1 Noradrenaline Deficiency Orthostatic Hypotension 1, Due To Dbh Deficiency Dopamine Beta-Hydroxylase Deficiency, Congenital Dbh Deficiency Dopamine Beta-Hydroxylase Deficiency
Cocaine Dependence
Mood Disorder	Mood Disorders Episodic Mood Disorder
Multiple System Atrophy 1	Multiple System Atrophy Shy-Drager Syndrome Msa MSA1 Multiple System Atrophy 1, Susceptibility To Sporadic Olivopontocerebellar Atrophy Multisystem Atrophy Msa1, Susceptibility To Multiple System Atrophy, Susceptibility To Opca Progressive Autonomic Failure With Multiple System Atrophy Sds
Bladder Diverticulum	Diverticulum Of Bladder Diverticulum - Bladder Bladder Diverticula Vesical Diverticulum Bladder Sacculation
Hereditary Dystonia	Dystonia Hereditary Familial Dystonia
Occipital Horn Syndrome	OHS Eds Ix Cutis Laxa X-Linked Cutis Laxa, X-Linked Cutis Laxa, X-Linked, Formerly Ehlers-Danlos Syndrome, Occipital Horn Type, Formerly Eds Ix, Formerly Eds9, Formerly Ehlers-Danlos Syndrome Type 9 Ehlers-Danlos Syndrome Type Ix X-Linked Cutis Laxa Ehlers-Danlos Syndrome, Occipital Horn Type Eds9 Ehlers-Danlos Syndrome Occipital Horn Type
Tardive Dyskinesia	Drug-Induced Tardive Dyskinesia Lingual-Facial-Buccal Dyskinesia Neuroleptic-Induced Tardive Dyskinesia
Alzheimer Disease, Familial, 1	Alzheimer Disease Alzheimer'S Disease Presenile And Senile Dementia AD1 Alzheimer Disease, Susceptibility To Alzheimer Disease, Late-Onset, Susceptibility To Alzheimer Disease 1, Familial AD Familial Alzheimer Disease Alzheimer Disease, Late-Onset Alzheimers Dementia Alzheimer Dementia Alzheimer Sclerosis Alzheimer Syndrome Alzheimer-Type Dementia Dat Primary Senile Degenerative Dementia Sdat Alzheimer Disease 1 Autosomal Dominant Alzheimer Disease Early-Onset Alzheimer Disease With Cerebral Amyloid Angiopathy Late Onset Alzheimer Disease Alzheimers Disease Alzheimer Disease, Early-Onset, With Cerebral Amyloid Angiopathy Late-Onset Alzheimers Disease Alzheimer'S Disease Pathway Kegg Dementia Due To Alzheimer'S Disease Alzheimer Disease Type 1 Alzheimers
Epilepsy	Epilepsy Syndrome Epileptic Syndrome Epilepsies Symptomatic Epilepsies Post Traumatic Epilepsy Traumatic Epilepsy Traumatic Epileptic Epilepsy Due To Hippocampal Sclerosis Epilepsy With Ammon'S Horn Sclerosis Epilepsy Due To Cortical Dysplasia Epilepsy Due To Neuronal Migration Disorders
Hypoascorbemia	Scurvy Ascorbic Acid Deficiency Vitamin C Deficiency Vitamin C, Inability To Synthesize Deficiency Of Vitamin C Scorbutus Vitamin C
Tetralogy Of Fallot	TOF Fallot Tetralogy Ventricular Septal Defect With Pulmonary Stenosis Or Atresia, Dextraposition Of Aorta, And Hypertrophy Of Right Ventricle Tetrad Of Fallot Fallot Tetrad Fallot Disease Fallot Complex Subpulmonic Stenosis, Ventricular Septal Defect, Overriding Aorta, And Right Ventricular Hypertrophy Interventricular Septal Defect With Dextroposition Of Aorta, Pulmonary Stenosis And Hypertrophy Of Right Ventricle Interventricular Septal Defect, In Tetralogy Of Fallot Ventricular Septal Defect With Obstructed Right Ventricular Outflow Tof - [Tetralogy Of Fallot] Pulmonary Atresia With Ventricular Septal Defect [Fallot Type] Pulmonary Atresia, Ventricular Septal Defect And Mapcas Pulmonary Atresia With Ventricular Septal Defect And Systemic-To-Pulmonary Collateral Arteries [Fallot Type]
Pheochromocytoma	Pheochromocytoma, Susceptibility To Phaeochromocytoma Adrenal Gland Chromaffin Paraganglioma Adrenal Gland Chromaffinoma Adrenal Gland Paraganglioma Adrenal Gland Pheochromocytoma Chromaffin Paraganglioma Of The Adrenal Gland Intraadrenal Paraganglioma PCC Chromaffin Cell Tumor Medullary Chromaffinoma Medullary Paraganglioma Pheochromoblastoma Pheochromocytomas Chromaffin Cell Neoplasm Pheochromocytoma, Malignant
Gilles De La Tourette Syndrome	Tourette Syndrome Tourette Disorder GTS Ts Gilles De La Tourette'S Syndrome Motor-Verbal Tic Disorder Guinon'S Disease Psychogenic Tics Tourette'S Syndrome Chronic Motor And Vocal Tic Disorder Td Tourette'S Disease Combined Vocal And Multiple Motor Tic Disorder [De La Tourette] Combined Vocal And Multiple Motor Tic Disorder Tic De La Tourette
Ptosis	Blepharoptosis Drooping Eyelid Droopy Eyelid Ptosis Of Eyelid Paralysis Of Levator Palpebrae Superioris
Peripheral Nervous System Disease	Peripheral Neuropathy Peripheral Nerve Disease Peripheral Nerve Disorders Neuropathy, Peripheral Peripheral Neuropathy Due To Vitamin Pyridoxine Hyperalimentation
Psychotic Disorder	Psychotic Disorders Mental Or Behavioural Disorder Psychotic Mental Disorders
Hirschsprung Disease 1	Hirschsprung Disease Aganglionic Megacolon Hscr Congenital Megacolon Colonic Aganglionosis Hirschsprung Disease, Susceptibility To, 1 Hirschsprung Disease, Protection Against Hirschsprung'S Disease Congenital Intestinal Aganglionosis HSCR1 Mgc Pelvirectal Achalasia Total Intestinal Aganglionosis Megacolon, Aganglionic Macrocolon Hscr 1 Hirschsprung Disease Type 1 Hirschsprung Disease, Type 1 Congenital Dilatation Of Colon Aganglionosis Congenital Aganglionic Megacolon Aganglionosis Of Colon Bowel Aganglionosis Colon Aganglionosis Hirschsprung Megacolon
Migraine With Aura	Classic Migraine Migraine With Typical Aura Migraine Accompagnée Complicated Migraine Classical Migraine Acute Migraine With Aura
Schizophrenia	SCZD Schizophrenia With Or Without An Affective Disorder Schizophrenia 12 Schizophrenia, Susceptibility To Schizophrenia-1 Dementia Praecox Schizophrenia 1
Substance Abuse	Substance-Related Disorders Substance Abuse Problem

Diseases	Alias
Waldenstroem'S Macroglobulinemia	Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma

Related Agents

Clinical Phase
Pre-clinical Phase

Clinical Phase

Bioactive Molecules (3)

Cat. No.	Product Name	Effect	Purity	Phase
HY-106004	Zamicastat	Inhibitor	99.93%	Phase 2
HY-14838	Etamicastat	Inhibitor	/	Phase 2
HY-14838A	Etamicastat hydrochloride	Inhibitor	98.14%	Phase 1

Pre-clinical Phase

Bioactive Molecules (5)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-N7204	4-Hydroxyderricin		99.79%	Unkown
HY-RS03544	DBH Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-156989	Butobendine	Inhibitor	/	Unkown
HY-RS03545	Dbh Mouse Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS03546	Dbh Rat Pre-designed siRNA Set A	Pre-designed Set	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Bos taurus	DBH	VGNC	VGNC:27888
Mus musculus	DBH	MGD	MGI:94864
Rattus norvegicus	DBH	RGD	RGD:2489
Felis catus	DBH	VGNC	VGNC:61346
Canis familiaris	DBH	VGNC	VGNC:39781
Macaca mulatta	DBH	VGNC	VGNC:71740
Others	DBH	NCBI