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Aliases for DBH Gene

Aliases for DBH Gene

  • Dopamine Beta-Hydroxylase 2 3
  • Dopamine Beta-Hydroxylase (Dopamine Beta-Monooxygenase) 2 3 5
  • Dopamine Beta-Monooxygenase 2 4
  • EC 1.14.17.1 4 63
  • 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 orthostatic intolerance. Among its related pathways are Metabolism and Viral mRNA Translation. 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 Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for DBH Gene

Genomics for DBH Gene

Genomic Location for DBH Gene

Chromosome:
9
Start:
133,636,360 bp from pter
End:
133,659,344 bp from pter
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;
    Cofactor:
    Name=pyrroloquinoline quinone; Xref=ChEBI:CHEBI:58442;
    Quaternary structure:
    • Homotetramer composed of two non-covalently bound disulfide-linked dimers.
    SequenceCaution:
    • Sequence=AAH17174.1; Type=Erroneous initiation; Evidence={ECO:0000305}; Sequence=CAA31631.1; Type=Erroneous initiation; Evidence={ECO:0000305}; Sequence=CAA31632.1; Type=Erroneous initiation; Evidence={ECO:0000305}; Sequence=CAA68285.1; Type=Erroneous initiation; Evidence={ECO:0000305};

neXtProt entry for DBH Gene

Proteomics data for DBH Gene at MOPED

Post-translational modifications for DBH Gene

  • Glycosylation at Asn 64 and Asn 184
  • Modification sites at PhosphoSitePlus

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)

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

P09172

UniProtKB/Swiss-Prot:

DOPO_HUMAN :
  • Contains 1 DOMON domain.
  • Belongs to the copper type II ascorbate-dependent monooxygenase family.
Domain:
  • Contains 1 DOMON domain.
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 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:0004500 dopamine beta-monooxygenase activity TAS --
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

  • Taconic Biosciences Mouse Models for DBH

miRNA for DBH Gene

miRTarBase miRNAs that target DBH

Inhibitory RNA Products

In Situ Assay Products

Flow Cytometry Products

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.
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
Jensen Localization Image for DBH Gene COMPARTMENTS Subcellular localization image for DBH gene
Compartment Confidence
extracellular 5
cytoskeleton 2
nucleus 2
endoplasmic reticulum 1
golgi apparatus 1
lysosome 1
mitochondrion 1
peroxisome 1
plasma membrane 1
vacuole 1

Gene Ontology (GO) - Cellular Components for DBH Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005576 extracellular region NAS 14718574
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

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:0007613 memory IEA --
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

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

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 34
Dopamine Approved Pharma Full agonist, Agonist, Target, Enzyme, ligand, substrate 3084
Vitamin C Approved Nutra Target 424,424
Propylthiouracil Approved Pharma Enzyme, inhibitor 6
Levodopa Approved Pharma Agonist 363

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

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
oxygen
  • Dioxygen
  • Molecular oxygen
  • O2
  • Oxygen
  • Oxygen molecule
7782-44-7
Water
  • Dihydrogen oxide
  • Steam
7732-18-5
xi-Norepinephrine
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:

Inhibitory RNA Products

Flow Cytometry Products

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 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



SOURCE GeneReport for Unigene cluster for DBH Gene Hs.591890

genes like me logo Genes that share expression patterns with DBH: view

Primer Products

In Situ Assay Products

No data available for mRNA Expression by UniProt/SwissProt and Protein tissue co-expression partners 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 36
  • 99 (a)
OneToOne
DBH 35
  • 99.14 (n)
  • 99.19 (a)
cow
(Bos Taurus)
Mammalia DBH 35
  • 85.58 (n)
  • 84.7 (a)
DBH 36
  • 84 (a)
OneToOne
dog
(Canis familiaris)
Mammalia DBH 36
  • 74 (a)
OneToOne
DBH 35
  • 81.52 (n)
  • 76.07 (a)
mouse
(Mus musculus)
Mammalia Dbh 16
Dbh 36
  • 78 (a)
OneToOne
Dbh 35
  • 80.38 (n)
  • 80.93 (a)
oppossum
(Monodelphis domestica)
Mammalia DBH 36
  • 69 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia DBH 36
  • 72 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Dbh 35
  • 78.9 (n)
  • 78.41 (a)
chicken
(Gallus gallus)
Aves DBH 35
  • 73.08 (n)
  • 69 (a)
DBH 36
  • 67 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia DBH 36
  • 60 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia dbh 35
  • 65.46 (n)
  • 64.43 (a)
zebrafish
(Danio rerio)
Actinopterygii dbh 36
  • 58 (a)
OneToOne
dbh 35
  • 64.49 (n)
  • 61.34 (a)
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP010485 35
  • 49.16 (n)
  • 42.22 (a)
fruit fly
(Drosophila melanogaster)
Insecta Tbh 35
  • 52.45 (n)
  • 41.91 (a)
Tbh 37
  • 40 (a)
Tbh 36
  • 33 (a)
OneToOne
worm
(Caenorhabditis elegans)
Secernentea tbh-1 35
  • 45.13 (n)
  • 35.95 (a)
tbh-1 36
  • 29 (a)
OneToOne
H13N06.6 37
  • 35 (a)
sea squirt
(Ciona savignyi)
Ascidiacea -- 36
  • 37 (a)
OneToOne
Species with no ortholog for DBH:
  • 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)

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

P09172-DOPO_HUMAN
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
rs4531 - 133,644,248(+) GCCTT(A/G/T)CCTTC reference, missense
rs5320 - 133,642,351(+) CAGAC(A/G)CGTGC reference, missense
VAR_013948 -
rs5319 - 133,642,261(+) CACTG(A/C/G)AGGCC reference, missense
rs5321 - 133,642,437(+) CCAAA(C/G)GGCTT reference, missense

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

Variant ID Type Subtype PubMed ID
esv2739138 CNV Deletion 23290073
dgv8325n71 CNV Loss 21882294
nsv894081 CNV Loss 21882294
nsv894086 CNV Gain 21882294
nsv894094 CNV Loss 21882294
nsv894100 CNV Gain 21882294
nsv894105 CNV Loss 21882294
dgv8332n71 CNV Loss 21882294
nsv469906 CNV Loss 18288195
nsv466615 CNV Loss 19166990
nsv466618 CNV Loss 19166990
nsv894108 CNV Loss 21882294
esv2739170 CNV Deletion 23290073
nsv894109 CNV Loss 21882294
nsv894110 CNV Loss 21882294
nsv466619 CNV Loss 19166990
dgv8333n71 CNV Loss 21882294

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

HapMap Linkage Disequilibrium report
DBH
Human Gene Mutation Database (HGMD)
DBH

Disorders for DBH Gene

MalaCards: The human disease database

(31) 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
orthostatic intolerance
  • neurocirculatory asthenia
postural hypotension
pure autonomic failure
  • bradbury eggleston syndrome
dysautonomia, familial
  • peripheral neuropathy
- 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.

Relevant External Links for DBH

Genetic Association Database (GAD)
DBH
Human Genome Epidemiology (HuGE) Navigator
DBH
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
DBH
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 23 48 67
  2. Dopamine-beta-hydroxylase in postural tachycardia syndrome. (PMID: 17625104) Garland E.M. … Robertson D. (Am. J. Physiol. Heart Circ. Physiol. 2007) 3 23 25 26
  3. mechanisms of disulfiram-induced cocaine abstinence: antabuse and cocaine relapse. (PMID: 19720750) Gaval-Cruz M. … Weinshenker D. (Mol. Interv. 2009) 23 25 26
  4. Plasma dopamine and noradrenaline variations in response to stress. (PMID: 17433386) LeBlanc J. … Ducharme M.B. (Physiol. Behav. 2007) 23 25 26
  5. Insulin-like growth factor-1-dependent maintenance of neuronal metabolism through the phosphatidylinositol 3-kinase-Akt pathway is inhibited by C2-ceramide in CAD cells. (PMID: 17561816) Arboleda G. … Gibson R.M. (Eur. J. Neurosci. 2007) 23 25 26

Products for DBH Gene

  • Addgene plasmids for DBH

Sources for DBH Gene

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