Free for academic non-profit institutions. Other users need a Commercial license

Aliases for DBH Gene

Aliases for DBH Gene

  • Dopamine Beta-Hydroxylase 2 3 3 5
  • Dopamine Beta-Hydroxylase (Dopamine Beta-Monooxygenase) 2 3
  • Dopamine Beta-Monooxygenase 2 4
  • EC 1.14.17.1 4
  • 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. 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]

GeneCards Summary for DBH Gene

DBH (Dopamine Beta-Hydroxylase) is a Protein Coding gene. Diseases associated with DBH include Dopamine Beta-Hydroxylase Deficiency, Congenital and Pure Autonomic Failure. Among its related pathways are Biogenic Amine Synthesis and Metabolism. Gene Ontology (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

Additional gene information 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

GeneHancer (GH) Regulatory Elements for DBH Gene

Promoters and enhancers for DBH Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH09J133636 Promoter 0.7 EPDnew 650.7 0.0 -16 0.1 POLR2A RCOR1 CHD2 DBH ENSG00000261018
GH09J133989 Promoter/Enhancer 2.5 EPDnew FANTOM5 Ensembl ENCODE dbSUPER 10.4 +356.1 356083 5.5 HDGF ARID4B SIN3A DMAP1 ZNF2 ZBTB7B YY1 ZNF207 ZNF143 ZNF548 VAV2 GC09P133992 BRD3 COL5A1-AS1 DBH COL5A1 SURF6 GC09M133983 GC09M133986
GH09J133821 Enhancer 1.3 FANTOM5 ENCODE dbSUPER 10.1 +186.6 186638 3.8 HDGF PTBP1 PKNOX1 IRF4 ZNF143 ATF7 IKZF2 RUNX3 CREM EGR2 SLC2A6 VAV2 DBH RPL7A GC09P133784 GC09M133930
GH09J133825 Enhancer 1.3 FANTOM5 Ensembl ENCODE dbSUPER 10.1 +189.9 189864 1.8 CEBPB MAFG CEBPG ZIC2 ATF4 POLR2A NFE2 MLLT1 FOS ATF7 SLC2A6 VAV2 DBH RPL7A GC09P133784 GC09M133930
GH09J133557 Enhancer 1 Ensembl ENCODE 11.4 -77.7 -77730 2.5 INSM2 KLF17 SIN3A YY1 EGR1 FOS IKZF2 RUNX3 ZFP69B MEF2D ADAMTSL2 MYMK FAM163B DBH
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around DBH on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the DBH gene promoter:
  • AP-2alphaA
  • AP-2alpha isoform 4
  • AP-2alpha isoform 3
  • AP-2alpha isoform 2
  • AP-2alpha
  • Tal-1beta
  • ITF-2
  • STAT3
  • AML1a

Genomic Locations for DBH Gene

Genomic Locations for DBH Gene
chr9:133,636,360-133,659,344
(GRCh38/hg38)
Size:
22,985 bases
Orientation:
Plus strand
chr9:136,501,482-136,524,466
(GRCh37/hg19)
Size:
22,985 bases
Orientation:
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:
    P09172-DOPO_HUMAN
    Recommended name:
    Dopamine beta-hydroxylase
    Protein Accession:
    P09172
    Secondary Accessions:
    • Q5T381
    • Q96AG2

    Protein attributes for DBH Gene

    Size:
    617 amino acids
    Molecular mass:
    69065 Da
    Cofactor:
    Name=Cu(2+); Xref=ChEBI:CHEBI:29036;
    Quaternary structure:
    • Homotetramer; composed of two disulfide-linked dimers.
    SequenceCaution:
    • 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

Post-translational modifications for DBH Gene

Other Protein References for DBH Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for DBH Gene

Domains & Families for DBH Gene

Gene Families for DBH Gene

Human Protein Atlas (HPA):
  • Disease related genes
  • Enzymes
  • FDA approved drug targets
  • Plasma proteins
  • Predicted intracellular proteins
  • Predicted secreted proteins

Suggested Antigen Peptide Sequences for DBH Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

P09172

UniProtKB/Swiss-Prot:

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

Function for DBH Gene

Molecular function for DBH Gene

UniProtKB/Swiss-Prot Function:
Conversion of dopamine to noradrenaline.
UniProtKB/Swiss-Prot CatalyticActivity:
3,4-dihydroxyphenethylamine + ascorbate + O(2) = noradrenaline + dehydroascorbate + H(2)O.
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 Induction:
Activity is enhanced by nerve growth factor (in superior cervical ganglia and adrenal medulla). Trans-synaptic stimulation with reserpine, acetylcholine and glucocorticoids.
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

Enzyme Numbers (IUBMB) for DBH Gene

Phenotypes From GWAS Catalog 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:
  • Dbh Dbh<tm1Rpa>

Animal Model Products

CRISPR Products

miRNA for DBH Gene

miRTarBase miRNAs that target DBH

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products 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

COMPARTMENTS
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

Subcellular locations from the

Human Protein Atlas (HPA)
  • Vesicles (4)
  • Endoplasmic reticulum (3)
See all subcellular structures

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:0005783 endoplasmic reticulum IDA --
GO:0005815 microtubule organizing center IDA --
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

2 KEGG pathways for DBH Gene
1 GeneGo (Thomson Reuters) pathway for DBH Gene
1 Cell Signaling Technology 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, 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 41
Copper Approved, Investigational Pharma Enzyme, cofactor 202
Dopamine Approved Pharma Full agonist, Agonist, Target, Enzyme, ligand, substrate 4008
Vitamin C Approved Nutra Target 581,581
Propylthiouracil Approved, Investigational Pharma Enzyme, inhibitor 9

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

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
xi-Norepinephrine
  • (-)-Arterenol
  • (-)-Noradrenaline
  • (-)-Norepinephrine
  • (R)-(-)-Norepinephrine
  • (R)-4-(2-amino-1-Hydroxyethyl)-1,2-benzenediol
genes like me logo Genes that share compounds with DBH: view

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:

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products 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
DBH
ECgene alternative splicing isoforms for
DBH

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 and MOPED for DBH Gene



NURSA nuclear receptor signaling pathways regulating expression of DBH Gene:

DBH

SOURCE GeneReport for Unigene cluster for DBH Gene:

Hs.591890

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

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
chimpanzee
(Pan troglodytes)
Mammalia DBH 34 33
  • 99.14 (n)
OneToOne
cow
(Bos Taurus)
Mammalia DBH 34 33
  • 85.58 (n)
OneToOne
dog
(Canis familiaris)
Mammalia DBH 34 33
  • 81.52 (n)
OneToOne
mouse
(Mus musculus)
Mammalia Dbh 16 34 33
  • 80.38 (n)
rat
(Rattus norvegicus)
Mammalia Dbh 33
  • 78.9 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia DBH 34
  • 72 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia DBH 34
  • 69 (a)
OneToOne
chicken
(Gallus gallus)
Aves DBH 34 33
  • 73.08 (n)
OneToOne
lizard
(Anolis carolinensis)
Reptilia DBH 34
  • 60 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia dbh 33
  • 65.46 (n)
zebrafish
(Danio rerio)
Actinopterygii dbh 34 33 33
  • 64.49 (n)
OneToOne
fruit fly
(Drosophila melanogaster)
Insecta Tbh 34 35 33
  • 52.45 (n)
OneToOne
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP010485 33
  • 49.16 (n)
worm
(Caenorhabditis elegans)
Secernentea tbh-1 34 33
  • 45.13 (n)
OneToOne
H13N06.6 35
  • 35 (a)
sea squirt
(Ciona savignyi)
Ascidiacea -- 34
  • 37 (a)
OneToOne
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

ENSEMBL:
Gene Tree for DBH (if available)
TreeFam:
Gene Tree for DBH (if available)
Aminode:
Evolutionary constrained regions (ECRs) for DBH: view image

Paralogs for DBH Gene

Paralogs for DBH Gene

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

  • DOPO_HUMAN
  • Q5T382_HUMAN
genes like me logo Genes that share paralogs with DBH: view

Variants for DBH Gene

Polymorphic Variants from UniProtKB/Swiss-Prot for DBH Gene

DOPO_HUMAN-P09172
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 Variation AA Info Type
rs1108580 benign, Dopamine beta hydroxylase deficiency 133,639,992(+) A/G coding_sequence_variant, synonymous_variant
rs129882 benign, Dopamine beta hydroxylase deficiency 133,658,547(+) C/T 3_prime_UTR_variant
rs129914 likely-benign, Dopamine beta hydroxylase deficiency 133,658,725(+) T/C 3_prime_UTR_variant
rs13306304 likely-benign, Dopamine beta hydroxylase deficiency 133,658,837(+) G/A 3_prime_UTR_variant
rs140025171 uncertain-significance, Dopamine beta hydroxylase deficiency 133,636,476(+) C/T coding_sequence_variant, synonymous_variant

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)

Additional Variant Information for DBH Gene

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

SNP Genotyping and Copy Number Assay Products

Disorders for DBH Gene

MalaCards: The human disease database

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

- elite association - COSMIC cancer census association via MalaCards
Search DBH in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

DOPO_HUMAN
  • 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.

Additional Disease Information for DBH

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
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 HJ … Owen MJ (American journal of medical genetics 1999) 3 4 22 44 58
  2. Noradrenergic genotype predicts lapses in sustained attention. (PMID: 18973765) Greene CM … Robertson IH (Neuropsychologia 2009) 3 22 44 58
  3. Association between migraine and a functional polymorphism at the dopamine beta-hydroxylase locus. (PMID: 19219470) Fernandez F … Griffiths LR (Neurogenetics 2009) 3 22 44 58
  4. Candidate gene studies of ADHD: a meta-analytic review. (PMID: 19506906) Gizer IR … Waldman ID (Human genetics 2009) 3 22 44 58
  5. 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 (Neuroscience letters 2009) 3 22 44 58

Products for DBH Gene

Sources for DBH Gene

Content
Loading form....