1. Gene
  2. DBH - dopamine beta-hydroxylase Gene

DBH - dopamine beta-hydroxylase Gene


种属: Homo sapiens


基因 ID: 1621 | 基因类型: protein coding

关于 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).


由该基因编码的蛋白质是属于铜 II 型抗坏血酸依赖性单加氧酶家族的氧化还原酶。编码的蛋白质在肾上腺髓质的神经分泌小泡和嗜铬颗粒中表达,催化多巴胺转化为去甲肾上腺素,去甲肾上腺素既是一种激素,也是交感神经系统的主要神经递质。由该基因编码的酶以可溶性和膜结合形式存在,分别取决于信号肽的存在与否。该基因的突变导致人类患者多巴胺β-羟基化物缺乏,其特征是自主神经和心血管功能缺陷,包括低血压和上睑下垂。该基因的多态性可能在多种精神疾病中发挥作用。[RefSeq 提供,2017 年 8 月]

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 基因产物(1)

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

DBH 蛋白结构


DOMON: DOMON domain (57 - 171)


Cu2_monooxygen: Copper type II ascorbate-dependent monooxygenase, N-terminal domain (213 - 341)


Cu2_monoox_C: Copper type II ascorbate-dependent monooxygenase, C-terminal domain (360 - 521)

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  • 617 a.a.
蛋白主名 其他名称

dopamine beta-hydroxylase

dopamine beta-hydroxylase (dopamine beta-monooxygenase)

重组 DBH 蛋白

目录号 产品名 蛋白编号 纯度
HY-P76874 Dopamine beta-Hydroxylase Protein, Human (HEK293, His) P09172 (S26-G603) ≥95%


疾病名称 别名
Schizophreniform Disorder

Schizophreniform Disorders

Psychotic Disorders



Familial Persistent Stuttering

Stuttering, Familial Persistent 1

Tuberous Sclerosis

Tuberous Sclerosis Syndrome

Bourneville'S Disease


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


Pure Dysautonomia

Pure Idiopatic Dysautonomia

Hypotension Orthostatic

Primary Orthostatic Hypotension

Chronic Orthostatic Hypotension

Conduct Disorder
Menkes Disease

Menkes Syndrome

Copper Transport Disease


Kinky Hair Disease

Steely Hair Disease

Menkes Kinky-Hair Syndrome


Steely Hair Syndrome

Menkea Syndrome


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, Susceptibility To


Central Neuroblastoma

Migraine With Or Without Aura 1


Migraine With Or Without Aura, Susceptibility To, 1

Migraine Disorder

Migraine Variant


Migraine Disorders




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


High Blood Pressure

Hypertension, Essential, Susceptibility To

Hypertensive Disease

Primary Hypertension


Hypertension, Salt-Sensitive Essential, Susceptibility To


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


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



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


Spinal Muscular Atrophy Distal X-Linked Recessive

Atrophy, Muscular, Spinal, Distal, X-Linked, Type 3


Chiari-Frommel Syndrome


Familial Hyperprolactinemia


Pregnancy-Related A-G Syndrome

Familial Isolated Prolactin Receptor Deficiency

Oppositional Defiant Disorder


Oppositional Defiance

Behavioural Disorder

Oppositional Defiance

Disruptive Mood Dysregulation Disorder

Renal Hypertension

Hypertension Renal

Hypertension, Renal

Alcohol Dependence


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


Alcohol Addiction

Ethanol Dependence

Chronic Ethanolism

Chronic Alcoholic Disease Nos

Alcoholic Disease Nos


Congenital Central Hypoventilation Syndrome


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


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


Dystonic Disease

Dystonic Disorder

Dystonia Disorders

Neuroleptic Dyskinesia



Glomus Body Tumor


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


Attention Deficit Disorder

Attention Deficit-Hyperactivity Disorder, Susceptibility To

Attention Deficit Disorder With Hyperactivity

Hyperkinetic Disorder

Hyperactivity Of Childhood

Attention-Deficit/Hyperactivity Disorder



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


Hsan Iii


Hereditary Sensory And Autonomic Neuropathy Type Iii


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


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



Parkinson Disease, Susceptibility To

Late Onset Parkinson'S Disease

Late Onset Parkinson Disease

Paralysis Agitans

Primary Parkinsonism

Idiopathic Parkinson Disease


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


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



Multiple System Atrophy 1, Susceptibility To

Sporadic Olivopontocerebellar Atrophy

Multisystem Atrophy

Msa1, Susceptibility To

Multiple System Atrophy, Susceptibility To


Progressive Autonomic Failure With Multiple System Atrophy


Bladder Diverticulum

Diverticulum Of Bladder

Diverticulum - Bladder

Bladder Diverticula

Vesical Diverticulum

Bladder Sacculation

Hereditary Dystonia

Dystonia Hereditary

Familial Dystonia

Occipital Horn Syndrome


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


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


Alzheimer Disease, Susceptibility To

Alzheimer Disease, Late-Onset, Susceptibility To

Alzheimer Disease 1, Familial


Familial Alzheimer Disease

Alzheimer Disease, Late-Onset

Alzheimers Dementia

Alzheimer Dementia

Alzheimer Sclerosis

Alzheimer Syndrome

Alzheimer-Type Dementia


Primary Senile Degenerative Dementia


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



Epilepsy Syndrome

Epileptic Syndrome


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



Ascorbic Acid Deficiency

Vitamin C Deficiency

Vitamin C, Inability To Synthesize

Deficiency Of Vitamin C


Vitamin C

Tetralogy Of Fallot


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, Susceptibility To


Adrenal Gland Chromaffin Paraganglioma

Adrenal Gland Chromaffinoma

Adrenal Gland Paraganglioma

Adrenal Gland Pheochromocytoma

Chromaffin Paraganglioma Of The Adrenal Gland

Intraadrenal Paraganglioma


Chromaffin Cell Tumor

Medullary Chromaffinoma

Medullary Paraganglioma



Chromaffin Cell Neoplasm

Pheochromocytoma, Malignant

Gilles De La Tourette Syndrome

Tourette Syndrome

Tourette Disorder



Gilles De La Tourette'S Syndrome

Motor-Verbal Tic Disorder

Guinon'S Disease

Psychogenic Tics

Tourette'S Syndrome

Chronic Motor And Vocal Tic Disorder


Tourette'S Disease

Combined Vocal And Multiple Motor Tic Disorder [De La Tourette]

Combined Vocal And Multiple Motor Tic Disorder

Tic De La Tourette



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


Mental Disorders

Hirschsprung Disease 1

Hirschsprung Disease

Aganglionic Megacolon


Congenital Megacolon

Colonic Aganglionosis

Hirschsprung Disease, Susceptibility To, 1

Hirschsprung Disease, Protection Against

Hirschsprung'S Disease

Congenital Intestinal Aganglionosis



Pelvirectal Achalasia

Total Intestinal Aganglionosis

Megacolon, Aganglionic


Hscr 1

Hirschsprung Disease Type 1

Hirschsprung Disease, Type 1

Congenital Dilatation Of Colon


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 With Or Without An Affective Disorder

Schizophrenia 12

Schizophrenia, Susceptibility To


Dementia Praecox

Schizophrenia 1

Substance Abuse

Substance-Related Disorders

Substance Abuse Problem

疾病名称 别名
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


种属 基因名 来源 基因 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