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Aliases for DBH Gene

Aliases for DBH Gene

  • Dopamine Beta-Hydroxylase 2 3 5
  • Dopamine Beta-Hydroxylase (Dopamine Beta-Monooxygenase) 2 3
  • Dopamine Beta-Monooxygenase 2 4
  • EC 4 61
  • DBM 3

External Ids for DBH Gene

Previous GeneCards Identifiers for DBH Gene

  • GC09P127576
  • GC09P128007
  • GC09P129926
  • GC09P131843
  • GC09P133531
  • GC09P135491
  • GC09P136501
  • GC09P106002

Summaries for DBH Gene

Entrez Gene Summary for DBH Gene

  • The protein encoded by this gene is an oxidoreductase belonging to the copper type II, ascorbate-dependent monooxygenase family. It is present in the synaptic vesicles of postganglionic sympathetic neurons and converts dopamine to norepinephrine. It exists in both soluble and membrane-bound forms, depending on the absence or presence, respectively, of a signal peptide. [provided by RefSeq, Jul 2008]

GeneCards Summary for DBH Gene

DBH (Dopamine Beta-Hydroxylase) is a Protein Coding gene. Diseases associated with DBH include Dopamine Beta-Hydroxylase Deficiency and Pure Autonomic Failure. Among its related pathways are Amine-derived hormones and Biogenic Amine Synthesis. GO annotations related to this gene include copper ion binding and L-ascorbic acid binding. An important paralog of this gene is MOXD1.

UniProtKB/Swiss-Prot for DBH Gene

  • Conversion of dopamine to noradrenaline.

Gene Wiki entry for DBH Gene

No data available for CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for DBH Gene

Genomics for DBH Gene

Regulatory Elements for DBH Gene

Enhancers for DBH Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH09G133700 1.5 Ensembl ENCODE dbSUPER 11.8 +65.9 65878 3.6 PKNOX1 MLX ARID4B ZNF48 ZNF2 ZNF121 SLC30A9 GLIS2 FOS MXD4 SARDH ENSG00000273249 TSC1 DBH ADAMTSL2 GC09P133683
GH09G133989 1.7 FANTOM5 ENCODE dbSUPER 10.3 +356.1 356084 5.5 HDGF CREB3L1 AGO1 ARID4B SIN3A DMAP1 ZNF2 ZBTB7B YY1 ZNF207 ENSG00000273249 COL5A1-AS1 DBH VAV2 BRD3 SURF6 GC09M133983
GH09G133825 1.7 FANTOM5 Ensembl ENCODE dbSUPER 10.1 +189.9 189865 1.8 KLF1 SREBF2 SIN3A KLF17 MAX CEBPG RAD21 ZIC2 YY1 POLR2A SLC2A6 VAV2 DBH RPL7A GC09P133784 GC09M133930
GH09G133821 1.7 FANTOM5 ENCODE dbSUPER 10.1 +186.6 186639 3.8 HDGF PKNOX1 CREB3L1 ARID4B SIN3A YY1 ZNF143 ZNF207 KLF13 ZNF263 LINC00094 SLC2A6 VAV2 WDR5 REXO4 DBH RPL7A GC09P133784 GC09M133930
GH09G133792 1.2 Ensembl ENCODE 10.5 +156.9 156924 1.0 HDGF CBX3 TBL1XR1 RB1 ARID4B SIN3A NFXL1 ZNF2 ZNF48 RAD21 VAV2 SARDH DBH GC09P133784 GC09M133930
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around DBH on UCSC Golden Path with GeneCards custom track

Genomic Location for DBH Gene

133,636,360 bp from pter
133,659,344 bp from pter
22,985 bases
Plus strand

Genomic View for DBH Gene

Genes around DBH on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
DBH Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for DBH Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for DBH Gene

Proteins for DBH Gene

  • Protein details for DBH Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Recommended name:
    Dopamine beta-hydroxylase
    Protein Accession:
    Secondary Accessions:
    • Q5T381
    • Q96AG2

    Protein attributes for DBH Gene

    617 amino acids
    Molecular mass:
    69065 Da
    Name=Cu(2+); Xref=ChEBI:CHEBI:29036;
    Quaternary structure:
    • Homotetramer; composed of two disulfide-linked dimers.
    • Sequence=AAH17174.1; Type=Erroneous initiation; Note=Translation N-terminally extended.; Evidence={ECO:0000305}; Sequence=CAA31631.1; Type=Erroneous initiation; Note=Translation N-terminally extended.; Evidence={ECO:0000305}; Sequence=CAA31632.1; Type=Erroneous initiation; Note=Translation N-terminally extended.; Evidence={ECO:0000305}; Sequence=CAA68285.1; Type=Erroneous initiation; Note=Translation N-terminally extended.; Evidence={ECO:0000305};

    Three dimensional structures from OCA and Proteopedia for DBH Gene

neXtProt entry for DBH Gene

Selected DME Specific Peptides for DBH Gene


Post-translational modifications for DBH Gene

Other Protein References for DBH Gene

ENSEMBL proteins:
REFSEQ proteins:

Antibody Products

  • R&D Systems Antibodies for DBH (Dopamine beta-Hydroxylase)
  • Cell Signaling Technology (CST) Antibodies for DBH (DBH)

Protein Products

Domains & Families for DBH Gene

Suggested Antigen Peptide Sequences for DBH Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry



  • Belongs to the copper type II ascorbate-dependent monooxygenase family.
  • Belongs to the copper type II ascorbate-dependent monooxygenase family.
genes like me logo Genes that share domains with DBH: view

No data available for Gene Families for DBH Gene

Function for DBH Gene

Molecular function for DBH Gene

GENATLAS Biochemistry:
dopamine beta-hydroxylase,copper dependent (dopamine beta-monooxygenase),catecholamine production,induced by cAMP through AP1 proteins,FOS and JUN with a polymorphism (nt 910) not associated with susceptibility to schizophrenia
UniProtKB/Swiss-Prot BiophysicochemicalProperties:
Kinetic parameters: KM=1.8 mM for tyramine {ECO:0000269 PubMed:8546710}; pH dependence: Optimum pH is 5.2. {ECO:0000269 PubMed:8546710};
UniProtKB/Swiss-Prot CatalyticActivity:
3,4-dihydroxyphenethylamine + ascorbate + O(2) = noradrenaline + dehydroascorbate + H(2)O.
UniProtKB/Swiss-Prot Function:
Conversion of dopamine to noradrenaline.
UniProtKB/Swiss-Prot Induction:
Activity is enhanced by nerve growth factor (in superior cervical ganglia and adrenal medulla). Trans-synaptic stimulation with reserpine, acetylcholine and glucocorticoids.

Enzyme Numbers (IUBMB) for DBH Gene

Gene Ontology (GO) - Molecular Function for DBH Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003824 catalytic activity IEA,TAS 3443096
GO:0004497 monooxygenase activity IEA --
GO:0004500 dopamine beta-monooxygenase activity TAS --
GO:0005507 copper ion binding IEA,IDA 7961964
GO:0016491 oxidoreductase activity IEA --
genes like me logo Genes that share ontologies with DBH: view
genes like me logo Genes that share phenotypes with DBH: view

Human Phenotype Ontology for DBH Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for DBH Gene

MGI Knock Outs for DBH:

Animal Model Products

miRNA for DBH Gene

miRTarBase miRNAs that target DBH

Inhibitory RNA Products

Clone Products

  • Addgene plasmids for DBH

No data available for Transcription Factor Targets and HOMER Transcription for DBH Gene

Localization for DBH Gene

Subcellular locations from UniProtKB/Swiss-Prot for DBH Gene

Soluble dopamine beta-hydroxylase: Cytoplasmic vesicle, secretory vesicle lumen. Cytoplasmic vesicle, secretory vesicle, chromaffin granule lumen. Secreted.
Cytoplasmic vesicle, secretory vesicle membrane; Single-pass type II membrane protein. Cytoplasmic vesicle, secretory vesicle, chromaffin granule membrane; Single-pass type II membrane protein.

Subcellular locations from

Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for DBH gene
Compartment Confidence
extracellular 5
cytoskeleton 2
nucleus 2
plasma membrane 1
mitochondrion 1
peroxisome 1
endoplasmic reticulum 1
lysosome 1
golgi apparatus 1

Gene Ontology (GO) - Cellular Components for DBH Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005576 extracellular region NAS 14718574
GO:0005615 extracellular space IDA 7961964
GO:0005737 cytoplasm TAS 3443096
GO:0016020 membrane TAS 3443096
GO:0016021 integral component of membrane IEA --
genes like me logo Genes that share ontologies with DBH: view

Pathways & Interactions for DBH Gene

genes like me logo Genes that share pathways with DBH: view

Pathways by source for DBH Gene

1 Cell Signaling Technology pathway for DBH Gene
1 PharmGKB pathway for DBH Gene
2 KEGG pathways for DBH Gene
1 GeneGo (Thomson Reuters) pathway for DBH Gene

UniProtKB/Swiss-Prot P09172-DOPO_HUMAN

  • Pathway: Catecholamine biosynthesis; (R)-noradrenaline biosynthesis; (R)-noradrenaline from dopamine: step 1/1.

Gene Ontology (GO) - Biological Process for DBH Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001816 cytokine production IEA --
GO:0001974 blood vessel remodeling IEA --
GO:0001975 response to amphetamine IEA --
GO:0002443 leukocyte mediated immunity IEA --
GO:0006589 octopamine biosynthetic process IBA --
genes like me logo Genes that share ontologies with DBH: view

No data available for SIGNOR curated interactions for DBH Gene

Drugs & Compounds for DBH Gene

(74) Drugs for DBH Gene - From: DrugBank, PharmGKB, ClinicalTrials, ApexBio, DGIdb, HMDB, and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Disulfiram Approved Pharma Target, inhibitor Reversibly stimulates SERCA Ca2+-ATPase; displays a range of other activities 37
Dopamine Approved Pharma Full agonist, Agonist, Target, Enzyme, ligand, substrate 3836
Vitamin C Approved Nutra Target 531,531
Propylthiouracil Approved Pharma Enzyme, inhibitor 9
Levodopa Approved Pharma Agonist 402

(52) Additional Compounds for DBH Gene - From: Novoseek and HMDB

Name Synonyms Role CAS Number PubChem IDs PubMed IDs

(6) ApexBio Compounds for DBH Gene

Compound Action Cas Number
(R)-Nepicastat HCl Dopamine-β-hydroxylase inhibitor 195881-94-8
Disulfiram 97-77-8
Isotretinoin 4759-48-2
Mildronate 76144-81-5
Nepicastat Inhibitor of dopamine-β-hydroxylase,potent and selective 173997-05-2
Nepicastat (SYN-117) HCl Dopamine-β-hydroxylase inhibitor 170151-24-3
genes like me logo Genes that share compounds with DBH: view

Drug Products

Transcripts for DBH Gene

mRNA/cDNA for DBH Gene

(1) REFSEQ mRNAs :
(4) Additional mRNA sequences :
(3637) Selected AceView cDNA sequences:
(2) Ensembl transcripts including schematic representations, and UCSC links where relevant :

Unigene Clusters for DBH Gene

Dopamine beta-hydroxylase (dopamine beta-monooxygenase):
Representative Sequences:

Inhibitory RNA Products

Clone Products

  • Addgene plasmids for DBH

Alternative Splicing Database (ASD) splice patterns (SP) for DBH Gene

No ASD Table

Relevant External Links for DBH Gene

GeneLoc Exon Structure for
ECgene alternative splicing isoforms for

Expression for DBH Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for DBH Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for DBH Gene

This gene is overexpressed in Adrenal Gland (x20.0) and Liver (x18.9).

Protein differential expression in normal tissues from HIPED for DBH Gene

This gene is overexpressed in Adrenal (27.5), Plasma (17.6), Serum (8.4), and Seminal vesicle (6.2).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, and MOPED for DBH Gene

NURSA nuclear receptor signaling pathways regulating expression of DBH Gene:


SOURCE GeneReport for Unigene cluster for DBH Gene:


Evidence on tissue expression from TISSUES for DBH Gene

  • Nervous system(4.8)
  • Bone marrow(4)
  • Adrenal gland(3.7)
  • Blood(2.1)

Phenotype-based relationships between genes and organs from Gene ORGANizer for DBH Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
  • cardiovascular
  • digestive
  • integumentary
  • nervous
  • reproductive
  • respiratory
  • skeletal muscle
  • skeleton
  • urinary
Head and neck:
  • brain
  • ear
  • eye
  • eyelid
  • face
  • head
  • mouth
  • skull
  • heart
  • lung
  • intestine
  • kidney
  • large intestine
  • small intestine
  • stomach
  • penis
  • urinary bladder
  • blood vessel
  • peripheral nerve
  • peripheral nervous system
  • skin
genes like me logo Genes that share expression patterns with DBH: view

Primer Products

No data available for Protein tissue co-expression partners and mRNA Expression by UniProt/SwissProt for DBH Gene

Orthologs for DBH Gene

This gene was present in the common ancestor of animals.

Orthologs for DBH Gene

Organism Taxonomy Gene Similarity Type Details
(Pan troglodytes)
Mammalia DBH 34 35
  • 99.14 (n)
(Bos Taurus)
Mammalia DBH 34 35
  • 85.58 (n)
(Canis familiaris)
Mammalia DBH 34 35
  • 81.52 (n)
(Mus musculus)
Mammalia Dbh 34 16 35
  • 80.38 (n)
(Rattus norvegicus)
Mammalia Dbh 34
  • 78.9 (n)
(Ornithorhynchus anatinus)
Mammalia DBH 35
  • 72 (a)
(Monodelphis domestica)
Mammalia DBH 35
  • 69 (a)
(Gallus gallus)
Aves DBH 34 35
  • 73.08 (n)
(Anolis carolinensis)
Reptilia DBH 35
  • 60 (a)
tropical clawed frog
(Silurana tropicalis)
Amphibia dbh 34
  • 65.46 (n)
(Danio rerio)
Actinopterygii dbh 34 35
  • 64.49 (n)
fruit fly
(Drosophila melanogaster)
Insecta Tbh 36 34 35
  • 52.45 (n)
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP010485 34
  • 49.16 (n)
(Caenorhabditis elegans)
Secernentea tbh-1 34 35
  • 45.13 (n)
H13N06.6 36
  • 35 (a)
sea squirt
(Ciona savignyi)
Ascidiacea -- 35
  • 37 (a)
Species where no ortholog for DBH was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for DBH Gene

Gene Tree for DBH (if available)
Gene Tree for DBH (if available)

Paralogs for DBH Gene

Paralogs for DBH Gene

(2) SIMAP similar genes for DBH Gene using alignment to 2 proteins:

genes like me logo Genes that share paralogs with DBH: view

Variants for DBH Gene

Polymorphic Variants from UniProtKB/Swiss-Prot for DBH Gene

There are two main alleles of DBH: DBH-A with Ala-318 and DBH-B with Ser-318 (PubMed:10490716, PubMed:10391209, PubMed:10391210).

Sequence variations from dbSNP and Humsavar for DBH Gene

SNP ID Clin Chr 09 pos Sequence Context AA Info Type
rs267606760 Pathogenic, Dopamine beta-hydroxylase deficiency (DBH deficiency) [MIM:223360] 133,636,672(+) ATCTC(A/G)TGGTG reference, missense
rs267606761 Pathogenic, Dopamine beta-hydroxylase deficiency (DBH deficiency) [MIM:223360] 133,647,854(+) GAAAC(A/G)ACTCC reference, missense
rs77576840 Pathogenic, Dopamine beta-hydroxylase deficiency (DBH deficiency) [MIM:223360] 133,639,848(+) CAGGA(A/C/T)GCCTG reference, synonymous-codon
rs74853476 Pathogenic 133,636,712(+) TGCGG(C/T)GAGTC splice-donor-variant
rs75215331 Pathogenic 133,647,906(+) CAACG(A/C/T)GGGGA reference, missense

Structural Variations from Database of Genomic Variants (DGV) for DBH Gene

Variant ID Type Subtype PubMed ID
esv2739138 CNV deletion 23290073
esv2739170 CNV deletion 23290073
esv3576711 CNV gain 25503493
nsv1125319 OTHER inversion 24896259
nsv466615 CNV loss 19166990
nsv466618 CNV loss 19166990
nsv466619 CNV loss 19166990
nsv469906 CNV loss 18288195
nsv615638 CNV loss 21841781
nsv615639 CNV loss 21841781
nsv615640 CNV loss 21841781
nsv951800 CNV deletion 24416366

Variation tolerance for DBH Gene

Residual Variation Intolerance Score: 98.9% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 5.08; 68.96% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for DBH Gene

Human Gene Mutation Database (HGMD)
SNPedia medical, phenotypic, and genealogical associations of SNPs for

Disorders for DBH Gene

MalaCards: The human disease database

(30) MalaCards diseases for DBH Gene - From: OMIM, ClinVar, GeneTests, Orphanet, Swiss-Prot, DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
dopamine beta-hydroxylase deficiency
  • dopamine beta-hydroxylase deficiency, congenital
pure autonomic failure
  • bradbury eggleston syndrome
autonomic dysfunction
  • autonomic disorder
melanotic neuroectodermal tumor
  • infantile melanotic neuroectodermal neoplasm
dysautonomia, familial
  • neuropathy, hereditary sensory and autonomic, type iii
- elite association - COSMIC cancer census association via MalaCards
Search DBH in MalaCards View complete list of genes associated with diseases


  • Dopamine beta-hydroxylase deficiency (DBH deficiency) [MIM:223360]: Characterized by profound deficits in autonomic and cardiovascular function, but apparently only subtle signs, if any, of central nervous system dysfunction. {ECO:0000269 PubMed:11857564}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Relevant External Links for DBH

Genetic Association Database (GAD)
Human Genome Epidemiology (HuGE) Navigator
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
genes like me logo Genes that share disorders with DBH: view

No data available for Genatlas for DBH Gene

Publications for DBH Gene

  1. No evidence for allelic association between schizophrenia and a functional variant of the human dopamine beta-hydroxylase gene (DBH). (PMID: 10490716) Williams H.J. … Owen M.J. (Am. J. Med. Genet. 1999) 3 4 22 46 64
  2. Noradrenergic genotype predicts lapses in sustained attention. (PMID: 18973765) Greene C.M. … Robertson I.H. (Neuropsychologia 2009) 3 22 46 64
  3. Candidate gene studies of ADHD: a meta-analytic review. (PMID: 19506906) Gizer I.R. … Waldman I.D. (Hum. Genet. 2009) 3 22 46 64
  4. Association study between the -1021C/T polymorphism of the dopamine-beta-hydroxylase gene promoter and personality traits in healthy subjects. (PMID: 19560519) Kamata M. … Otani K. (Neurosci. Lett. 2009) 3 22 46 64
  5. Association between migraine and a functional polymorphism at the dopamine beta-hydroxylase locus. (PMID: 19219470) Fernandez F. … Griffiths L.R. (Neurogenetics 2009) 3 22 46 64

Products for DBH Gene

  • Addgene plasmids for DBH

Sources for DBH Gene

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