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 nerv... See more...

Aliases for DBH Gene

Aliases for DBH Gene

  • Dopamine Beta-Hydroxylase 2 3 4 5
  • Dopamine Beta-Hydroxylase (Dopamine Beta-Monooxygenase) 2 3
  • Dopamine Beta-Monooxygenase 2 4
  • EC 1.14.17.1 4 51
  • DBM 2 3
  • ORTHYP1 3
  • DBH 5

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 Orthostatic Hypotension 1 and Pure Autonomic Failure. Among its related pathways are Neuroscience and Monoamine Transport. 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 Summary for DBH Gene

Gene Wiki entry for DBH Gene

No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for DBH Gene

Genomics for DBH Gene

GeneHancer (GH) Regulatory Elements Pubs

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
GH09J133633 Promoter/Enhancer 1.3 EPDnew Ensembl ENCODE CraniofacialAtlas 600.7 -1.7 -1728 3.7 ZNF341 ZNF623 MAFG NR2F2 POLR2A RCOR1 YY1 GLIS1 NFE2 SMARCA4 DBH ENSG00000261018 FAM163B DBH-AS1
GH09J133637 Enhancer 0.3 Ensembl CraniofacialAtlas 600.7 +1.6 1638 1.2 DBH FAM163B DBH-AS1 SARDH
GH09J133989 Promoter/Enhancer 2.6 EPDnew FANTOM5 Ensembl ENCODE CraniofacialAtlas dbSUPER 10.3 +356.0 356031 5.6 HNRNPL GATAD2A CTCF PRDM10 TFE3 NFKBIZ ZNF692 BACH1 TARDBP LARP7 VAV2 lnc-BRD3OS-7 BRD3 COL5A1-AS1 DBH COL5A1 SURF6 RF00017-8046 SARDH
GH09J133821 Enhancer 1.5 FANTOM5 Ensembl ENCODE dbSUPER 10.1 +188.5 188493 7.5 SP1 HNRNPL ATF7 KDM1A BACH1 LARP7 STAT3 ZNF143 RELA ZIC2 SLC2A6 VAV2 DBH RPL7A RF00017-8044 RF00017-8045 SARDH
GH09J133700 Promoter/Enhancer 1.1 Ensembl ENCODE CraniofacialAtlas dbSUPER 11.9 +65.9 65906 3.6 YY1 RXRA MAX EZH2 ZNF121 SARDH DBH ADAMTSL2 lnc-VAV2-3 lnc-VAV2-4
- 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 the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for DBH

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

Genomic Locations for DBH Gene

Genomic Locations for DBH Gene
chr9:133,636,363-133,659,329
(GRCh38/hg38)
Size:
22,967 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=Truncated N-terminus.; Evidence={ECO:0000305}; Sequence=CAA31631.1; Type=Erroneous initiation; Note=Truncated N-terminus.; Evidence={ECO:0000305}; Sequence=CAA31632.1; Type=Erroneous initiation; Note=Truncated N-terminus.; Evidence={ECO:0000305}; Sequence=CAA68285.1; Type=Erroneous initiation; Note=Truncated N-terminus.; 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

P09172:
  • VPWNSFNR
  • AGIMELGL
  • GLQRVQLLKP
  • GNEALVHH
  • HYYPQTQLELCKS
  • VHHMEVF
  • AGVLFGMSDRGE
  • IFASQLHTHLTG
  • TCDPKDY
  • IEDGTVHLVYG
  • GPCDSKMKP
  • GDVLITSCTYNTE
  • ATVGGFGILEEMCVNYVHYYP
  • LLFKRPFGTCDP
  • FLQKYFH
  • LELCKSAVD

Post-translational modifications for DBH Gene

  • N-glycosylated.
  • Proteolytic cleavage after the membrane-anchor leads to the release of the soluble form.
  • Glycosylation at Asn64, Asn184, and Asn566
  • Modification sites at PhosphoSitePlus
  • Glycosylation from GlyConnect

Other Protein References for DBH Gene

ENSEMBL proteins:
REFSEQ proteins:

Antibody Products

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

Protein Domains for DBH Gene

InterPro:
Blocks:
  • Copper type II, ascorbate-dependent monooxygenase
  • Dopamine-beta-monooxygenase signature
  • DOMON domain
ProtoNet:

Suggested Antigen Peptide Sequences for DBH Gene

GenScript: Design optimal peptide antigens:
  • Dopamine beta-monooxygenase (DOPO_HUMAN)

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:
Reaction=dopamine + 2 L-ascorbate + O2 = (R)-noradrenaline + H2O + 2 monodehydro-L-ascorbate radical; Xref=Rhea:RHEA:19117, ChEBI:CHEBI:15377, ChEBI:CHEBI:15379, ChEBI:CHEBI:38290, ChEBI:CHEBI:59513, ChEBI:CHEBI:59905, ChEBI:CHEBI:72587; EC=1.14.17.1; Evidence={ECO:0000269|PubMed:3443096, ECO:0000269|PubMed:7961964, 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.
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};
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 IBA,IDA 3443096
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 4
endoplasmic reticulum 4
plasma membrane 2
mitochondrion 2
nucleus 2
cytosol 2
lysosome 2
golgi apparatus 2
peroxisome 1
endosome 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Vesicles (4)
  • Endoplasmic reticulum (2)
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 IBA,IDA 7961964
GO:0005737 cytoplasm TAS,IBA 21873635
GO:0005783 endoplasmic reticulum IDA --
GO:0016020 membrane IEA,TAS 3443096
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
  • Tyrosine metabolism p.1 (dopamine)
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 21873635
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

(77) 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 49
Copper Approved, Investigational Pharma Enzyme, cofactor 249
Dopamine Approved Pharma Agonist, Full agonist, Target, Enzyme, ligand, substrate 3978
Vitamin C Approved Nutra Target, cofactor 748,748
Propylthiouracil Approved, Investigational Pharma Enzyme, inhibitor 11

(50) Additional Compounds for DBH Gene - From: Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs

(5) 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 (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 :
5 NCBI additional mRNA sequence :
2 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

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

Expression for DBH Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and 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



Transcriptomic regulation report from SPP (The Signaling Pathways Project) for DBH

SOURCE GeneReport for Unigene cluster for DBH Gene:

Hs.591890

Evidence on tissue expression from TISSUES for DBH Gene

  • Nervous system(4.9)
  • Bone marrow(4.3)
  • Adrenal gland(3.7)
  • Blood(2.6)
  • Skin(2.6)
  • Heart(2.5)
  • Intestine(2.4)
  • Liver(2.4)
  • Stomach(2.2)
  • Muscle(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 30 31
  • 99.14 (n)
OneToOne
Cow
(Bos Taurus)
Mammalia DBH 30 31
  • 85.58 (n)
OneToOne
Dog
(Canis familiaris)
Mammalia DBH 30 31
  • 81.52 (n)
OneToOne
Mouse
(Mus musculus)
Mammalia Dbh 30 17 31
  • 80.38 (n)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Dbh 30
  • 78.9 (n)
Platypus
(Ornithorhynchus anatinus)
Mammalia DBH 31
  • 72 (a)
OneToOne
Oppossum
(Monodelphis domestica)
Mammalia DBH 31
  • 69 (a)
OneToOne
Chicken
(Gallus gallus)
Aves DBH 30 31
  • 73.08 (n)
OneToOne
Lizard
(Anolis carolinensis)
Reptilia DBH 31
  • 60 (a)
OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia dbh 30
  • 65.46 (n)
Zebrafish
(Danio rerio)
Actinopterygii dbh 30 31
  • 64.49 (n)
OneToOne
Fruit Fly
(Drosophila melanogaster)
Insecta Tbh 30 31 32
  • 52.45 (n)
OneToOne
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP010485 30
  • 49.16 (n)
Worm
(Caenorhabditis elegans)
Secernentea tbh-1 30 31
  • 45.13 (n)
OneToOne
H13N06.6 32
  • 35 (a)
Sea Squirt
(Ciona savignyi)
Ascidiacea -- 31
  • 37 (a)
OneToOne
Species where no ortholog for DBH was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium 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 Vase (Ciona intestinalis)
  • 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, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for DBH Gene

SNP ID Clinical significance and condition Chr 09 pos Variation AA Info Type
639542 Uncertain Significance: Orthostatic hypotension 1 133,656,634(+) T/C MISSENSE_VARIANT
641075 Uncertain Significance: Orthostatic hypotension 1 133,647,887(+) A/G MISSENSE_VARIANT
647065 Uncertain Significance: Orthostatic hypotension 1 133,642,303(+) G/A MISSENSE_VARIANT
653967 Uncertain Significance: Orthostatic hypotension 1 133,652,253(+) G/A MISSENSE_VARIANT
709486 Likely Benign: not provided 133,636,693(+) G/T MISSENSE_VARIANT

Additional dbSNP identifiers (rs#s) for DBH Gene

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

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

Disorder Aliases PubMed IDs
orthostatic hypotension 1
  • orthyp1
pure autonomic failure
  • bradbury eggleston syndrome
dopamine beta-hydroxylase deficiency
  • dopamine beta-hydroxylase deficiency, congenital
occipital horn syndrome
  • ohs
menkes disease
  • mnk
- 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
  • Orthostatic hypotension 1 (ORTHYP1) [MIM:223360]: A form of orthostatic hypotension due to congenital dopamine beta-hydroxylase deficiency. Orthostatic hypotension, also known as postural hypotension, is a finding defined as a 20-mm Hg decrease in systolic pressure or a 10-mm Hg decrease in diastolic pressure occurring 3 minutes after a person has risen from supine to standing. Symptoms include dizziness, blurred vision, and sometimes syncope. ORTHYP1 is an autosomal recessive condition apparent from infancy or early childhood and characterized by low plasma and urinary levels of norepinephrine and epinephrine, and episodic hypoglycemia. {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
Open Targets Platform
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 23 41
  2. Correlation of a set of gene variants, life events and personality features on adult ADHD severity. (PMID: 20006992) Müller DJ … Kennedy JL (Journal of psychiatric research 2010) 3 23 41
  3. Association between migraine and a functional polymorphism at the dopamine beta-hydroxylase locus. (PMID: 19219470) Fernandez F … Griffiths LR (Neurogenetics 2009) 3 23 41
  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 (Neuroscience letters 2009) 3 23 41
  5. Two-stage case-control association study of dopamine-related genes and migraine. (PMID: 19772578) Corominas R … Macaya A (BMC medical genetics 2009) 3 23 41

Products for DBH Gene

  • Addgene plasmids for DBH

Sources for DBH Gene