Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.	1621
Gene name Gene Name - the full gene name approved by the HGNC.	Dopamine beta-hydroxylase
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.	DBH
Synonyms (NCBI Gene) Gene synonyms aliases	DBM, ORTHYP1
Disease Acronyms (UniProt) Disease acronyms from UniProt database	ORTHYP1
Chromosome Chromosome number	9
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.	9q34.2
Summary Summary of gene provided in NCBI Entrez Gene.	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 convers

Show/Hide all(8)

SNP ID	Visualize variation	Clinical significance	Consequence
rs74853476	T>C	Pathogenic	Splice donor variant
rs75215331	C>A,T	Likely-benign, pathogenic	Missense variant, coding sequence variant
rs77576840	C>A,T	Pathogenic	Synonymous variant, missense variant, coding sequence variant
rs199926239	T>A,C	Conflicting-interpretations-of-pathogenicity, uncertain-significance	Intron variant
rs267606760	G>A	Pathogenic	Missense variant, coding sequence variant
rs267606761	G>A	Pathogenic	Missense variant, coding sequence variant
rs863225244	A>-	Pathogenic	Coding sequence variant, frameshift variant
rs863225245	G>T	Pathogenic	Coding sequence variant, missense variant

Show/Hide all(21)

miRTarBase ID	miRNA	Experiments	Reference
MIRT017290	hsa-miR-335-5p	Microarray	18185580
MIRT923702	hsa-miR-3664-3p	CLIP-seq
MIRT923703	hsa-miR-421	CLIP-seq
MIRT923704	hsa-miR-4649-5p	CLIP-seq
MIRT923705	hsa-miR-4685-5p	CLIP-seq
MIRT923706	hsa-miR-4709-5p	CLIP-seq
MIRT923707	hsa-miR-4746-5p	CLIP-seq
MIRT923708	hsa-miR-505	CLIP-seq
MIRT923709	hsa-miR-510	CLIP-seq
MIRT923710	hsa-miR-512-5p	CLIP-seq
MIRT1973634	hsa-miR-4776-5p	CLIP-seq
MIRT2209190	hsa-miR-1908	CLIP-seq
MIRT2209191	hsa-miR-3180	CLIP-seq
MIRT2209192	hsa-miR-3180-3p	CLIP-seq
MIRT2209193	hsa-miR-3196	CLIP-seq
MIRT2209194	hsa-miR-4488	CLIP-seq
MIRT2209195	hsa-miR-4697-5p	CLIP-seq
MIRT2209196	hsa-miR-4781-5p	CLIP-seq
MIRT2209197	hsa-miR-503	CLIP-seq
MIRT2209198	hsa-miR-663	CLIP-seq
MIRT2209199	hsa-miR-744	CLIP-seq

Transcription factors

Show/Hide all(7)

Transcription factor	Regulation	Reference
HAND2	Activation	14512028
PHOX2A	Activation	16280598
PHOX2A	Unknown	11034547
PHOX2B	Activation	11034547;16280598
PHOX2B	Unknown	15888479
TFAP2A	Unknown	11146001
YY1	Activation	8753872

Show/Hide all(49)

GO ID	Ontology	Definition	Evidence	Reference
GO:0001974	Process	Blood vessel remodeling	IEA
GO:0001975	Process	Response to amphetamine	IEA
GO:0002443	Process	Leukocyte mediated immunity	IEA
GO:0003824	Function	Catalytic activity	TAS	3443096
GO:0004500	Function	Dopamine beta-monooxygenase activity	IBA	21873635
GO:0004500	Function	Dopamine beta-monooxygenase activity	IDA	3443096, 7961964
GO:0005507	Function	Copper ion binding	IBA	21873635
GO:0005507	Function	Copper ion binding	IDA	7961964, 27152332
GO:0005515	Function	Protein binding	IPI	32296183, 32814053
GO:0005576	Component	Extracellular region	NAS	14718574
GO:0005615	Component	Extracellular space	IBA	21873635
GO:0005615	Component	Extracellular space	IDA	7961964
GO:0005737	Component	Cytoplasm	TAS	3443096
GO:0005783	Component	Endoplasmic reticulum	IDA
GO:0006589	Process	Octopamine biosynthetic process	IBA	21873635
GO:0007268	Process	Chemical synaptic transmission	TAS	2880016
GO:0007613	Process	Memory	IEA
GO:0007626	Process	Locomotory behavior	IEA
GO:0008542	Process	Visual learning	IEA
GO:0016020	Component	Membrane	TAS	3443096
GO:0016021	Component	Integral component of membrane	IEA
GO:0030658	Component	Transport vesicle membrane	IEA
GO:0030667	Component	Secretory granule membrane	IBA	21873635
GO:0030667	Component	Secretory granule membrane	IDA	7961964
GO:0031418	Function	L-ascorbic acid binding	IEA
GO:0034451	Component	Centriolar satellite	IDA
GO:0034466	Component	Chromaffin granule lumen	IEA
GO:0034774	Component	Secretory granule lumen	IDA	7961964
GO:0034774	Component	Secretory granule lumen	TAS
GO:0042127	Process	Regulation of cell population proliferation	IEA
GO:0042309	Process	Homoiothermy	IEA
GO:0042420	Process	Dopamine catabolic process	IBA	21873635
GO:0042420	Process	Dopamine catabolic process	IDA	3443096, 7961964
GO:0042421	Process	Norepinephrine biosynthetic process	IBA	21873635
GO:0042421	Process	Norepinephrine biosynthetic process	IEA
GO:0042421	Process	Norepinephrine biosynthetic process	IMP	27148966
GO:0042423	Process	Catecholamine biosynthetic process	TAS
GO:0042584	Component	Chromaffin granule membrane	IEA
GO:0042593	Process	Glucose homeostasis	IEA
GO:0042596	Process	Fear response	IEA
GO:0042711	Process	Maternal behavior	IEA
GO:0043231	Component	Intracellular membrane-bounded organelle	IDA
GO:0045202	Component	Synapse	IEA
GO:0045907	Process	Positive regulation of vasoconstriction	IEA
GO:0048149	Process	Behavioral response to ethanol	IEA
GO:0048265	Process	Response to pain	IEA
GO:0050900	Process	Leukocyte migration	IEA
GO:0120162	Process	Positive regulation of cold-induced thermogenesis	ISS	9139828
GO:2001236	Process	Regulation of extrinsic apoptotic signaling pathway	IEA

MIM	HGNC	e!Ensembl
609312	2689	ENSG00000123454

Protein

UniProt ID

P09172

Protein name

Dopamine beta-hydroxylase (EC 1.14.17.1) (Dopamine beta-monooxygenase) [Cleaved into: Soluble dopamine beta-hydroxylase]

Protein function

Catalyzes the hydroxylation of dopamine to noradrenaline (also known as norepinephrine), and is thus vital for regulation of these neurotransmitters. {ECO:0000269|PubMed:27148966, ECO:0000269|PubMed:3443096, ECO:0000269|PubMed:7961964, ECO:00002

PDB

4ZEL

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF03351	DOMON	55 → 172	DOMON domain	Domain
PF01082	Cu2_monooxygen	214 → 341	Copper type II ascorbate-dependent monooxygenase, N-terminal domain	Domain
PF03712	Cu2_monoox_C	360 → 516	Copper type II ascorbate-dependent monooxygenase, C-terminal domain	Domain

Sequence

MPALSRWASLPGPSMREAAFMYSTAVAIFLVILVAALQGSAPRESPLPYHIPLDPEGSLE
LSWNVSYTQEAIHFQLLVRRLKAGVLFGMSDRGELENADLVVLWTDGDTAYFADAWSDQK
GQIHLDPQQDYQLLQVQRTPEGLTLLFKRPFGTCDPKDYLIEDGTVHLVYGILEEPFRSL
EAINGSGLQMGLQRVQLLKPNIPEPELPSDACTMEVQAPNIQIPSQETTYWCYIKELPKG
FSRHHIIKYEPIVTKGNEALVHHMEVFQCAPEMDSVPHFSGPCDSKMKPDRLNYCRHVLA
AWALGAKAFYYPEEAGLAFGGPGSSRYLRLEVHYHNPLVIEGRNDSSGIRLYYTAKLRRF
NAGIMELGLVYTPVMAIPPRETAFILTGYCTDKCTQLALPPSGIHIFASQLHTHLTGRKV
VTVLVRDGREWEIVNQDNHYSPHFQEIRMLKKVVSVHPGDVLITSCTYNTEDRELATVGG
FGILEEMCVNYVHYYPQTQLELCKSAVDAGFLQKYFHLINRFNNEDVCTCPQASVSQQFT
SVPWNSFNRDVLKALYSFAPISMHCNKSSAVRFQGEWNLQPLPKVISTLEEPTPQCPTSQ
GRSPAGPTVVSIGGGKG

Sequence length

617

Interactions

View interactions

	KEGG		Reactome
	Tyrosine metabolism Metabolic pathways		Catecholamine biosynthesis

Show/Hide Causal Diseases (6)

Disease term	Disease name	dbSNP ID	References
Causal
Anemia	Anemia	rs118204044, rs118204045, rs118204046, rs121918330, rs869320719, rs869312029, rs121918332, rs869320724, rs767094129, rs786205058, rs786205059, rs137853119, rs137853120, rs137853121, rs1384933966 View all (89 more)
Hyperinsulinism	Hyperinsulinism	rs387906407, rs151344623, rs121913156, rs137853245, rs80356655, rs104894010, rs104894012, rs104894014, rs104894015, rs137852676, rs587783169, rs72559716, rs541269678, rs151344624, rs797045209 View all (23 more)
Lung carcinoma	Squamous cell carcinoma of lung	rs1805076, rs121909071, rs121913530, rs112445441, rs121913529, rs121913535, rs121913297, rs121913279, rs104886003, rs397516975, rs11554290, rs121913364, rs121913351, rs121913369, rs121913355 View all (44 more)	28604730
Neuroblastoma	Neuroblastoma	rs113994087, rs113994089, rs281864719, rs863225285, rs863225284, rs863225283, rs281864720, rs863225282, rs863225281, rs1057519698, rs915983602, rs1469271544	25174395
Orthostatic hypotension	ORTHOSTATIC HYPOTENSION 1	rs74853476, rs772361572, rs1437737028, rs768149947	27778639, 14598346, 21209083, 21471955, 15060114, 27830117, 11857564, 27604308
Pheochromocytoma	Pheochromocytoma	rs121908826, rs121908830, rs121908821, rs5030821, rs5030820, rs104893826, rs5030808, rs587776644, rs80338844, rs104894306, rs104894309, rs75076352, rs75996173, rs77709286, rs74799832 View all (30 more)	22569243

Show/Hide Unknown Diseases (3)

Disease term	Disease name	References	Source
Unknown
Mental depression	Mental Depression, Depressive disorder, Unipolar Depression, Major Depressive Disorder	23906995, 23305027, 17698206, 20621148, 23512949, 18982239, 24888991, 11904130, 11904129	ClinVar
Ptosis	Blepharoptosis, Ptosis		ClinVar
Hypertension	Hypertension		GWAS

Show/Hide Text Mining Associations (40)

Disease Name	Relationship Type	References
Associations from Text Mining
Alcoholism	Associate	24521142
Alzheimer Disease	Associate	21070631, 23416088, 30909233, 31771069
Antisocial Personality Disorder	Associate	24521142
Anxiety Disorders	Associate	25059547
Attention Deficit and Disruptive Behavior Disorders	Associate	27633436
Attention Deficit Disorder with Hyperactivity	Associate	15767706, 16380908, 16741944, 22841130, 26447643, 30379906, 34573389, 35405990
Autism Spectrum Disorder	Associate	36143905
Carcinoma Hepatocellular	Associate	27894309
Cataract Age Related Nuclear	Associate	32337810
Cocaine Related Disorders	Associate	23458673
Conduct Disorder	Associate	27633436
Depressive Disorder	Associate	25059547, 31913053
Disease	Associate	31913053
Dyskinesia Drug Induced	Associate	23951054, 31913053
Essential Hypertension	Associate	20009769
Hearing Loss	Associate	33713422
Heart Septal Defects Ventricular	Associate	32877226
Hyperkinesis	Associate	16741944
Hypertension	Associate	20009769, 37451613
Inflammation	Associate	21070631
Inflammatory Bowel Diseases	Associate	30817802
Memory Disorders	Associate	35405990
Mental Disorders	Associate	16741944
Migraine Disorders	Associate	25929431
Neuroblastoma	Associate	12842874, 19460840, 8753872
Pain	Associate	34608709
Paraganglioma	Associate	25946206
Paranoid Disorders	Associate	23458673, 24521142
Parkinson Disease	Stimulate	21147074
Parkinson Disease	Associate	27177268, 33539026
Personality Disorders	Associate	35405990
Phenylketonurias	Associate	31923802
Pheochromocytoma	Associate	25946206, 3443096
Postural Orthostatic Tachycardia Syndrome	Associate	17625104
Pulmonary Arterial Hypertension	Associate	32877226
Schizophrenia	Associate	23932573, 23951054, 31913053
Smoke Inhalation Injury	Associate	21685187
Substance Related Disorders	Associate	22841130
Tobacco Use Disorder	Associate	24521142
Urinary Bladder Neoplasms	Associate	21483740

DBH (dopamine beta-hydroxylase)