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DBH Gene

protein-coding   GIFtS: 72
GCID: GC09P136501

Dopamine Beta-Hydroxylase (Dopamine Beta-Monooxygenase)

  See DBH-related diseases
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
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Aliases
Dopamine Beta-Hydroxylase (Dopamine Beta-Monooxygenase)1 2
EC 1.14.17.13 8
DBM2
Dopamine Beta-Hydroxylase2
Dopamine Beta-Monooxygenase3

External Ids:    HGNC: 26891   Entrez Gene: 16212   Ensembl: ENSG000001234547   OMIM: 6093125   UniProtKB: P091723   

Export aliases for DBH gene to outside databases

Previous GC identifers: GC09P127576 GC09P128007 GC09P129926 GC09P131843 GC09P133531 GC09P135491 GC09P106002


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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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 (dopamine beta-monooxygenase)) is a protein-coding gene. Diseases associated with DBH include postural hypotension, and dopamine beta-hydroxylase deficiency. GO annotations related to this gene include dopamine beta-monooxygenase activity and copper ion binding. An important paralog of this gene is MOXD1.

UniProtKB/Swiss-Prot: DOPO_HUMAN, P09172
Function: Conversion of dopamine to noradrenaline

Gene Wiki entry for DBH (Dopamine beta hydroxylase) Gene


(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence at NCBI GenBank:
NC_000009.11  NC_018920.2  NT_008470.20  
Regulatory elements:
   Regulatory transcription factor binding sites in the DBH gene promoter:
         AML1a   AP-2alpha isoform 3   AP-2alpha isoform 2   Tal-1beta   STAT3   AP-2alpha isoform 4   AP-2alpha   ITF-2   AP-2alphaA   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidDBH promoter sequence
   Search Chromatin IP Primers for DBH

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat DBH


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 9q34   Ensembl cytogenetic band:  9q34.2   HGNC cytogenetic band: 9q34

DBH Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
DBH gene location

GeneLoc information about chromosome 9         GeneLoc Exon Structure

GeneLoc location for GC09P136501:  view genomic region     (about GC identifiers)

Start:
136,501,482 bp from pter      End:
136,524,466 bp from pter
Size:
22,985 bases      Orientation:
plus strand

(According to 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, Cloud-Clone Corp., and/or eBioscience,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, Cloud-Clone Corp., and/or eBioscience, Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, Cloud-Clone Corp, and/or others.)
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UniProtKB/Swiss-Prot: DOPO_HUMAN, P09172 (See protein sequence)
Recommended Name: Dopamine beta-hydroxylase  
Size: 617 amino acids; 69065 Da
Cofactor: Binds 1 PQQ per subunit
Cofactor: Binds 2 copper ions per subunit
Subunit: Homotetramer composed of two non-covalently bound disulfide-linked dimers
Sequence caution: Sequence=AAH17174.1; Type=Erroneous initiation; Sequence=CAA31631.1; Type=Erroneous initiation;
Sequence=CAA31632.1; Type=Erroneous initiation; Sequence=CAA68285.1; Type=Erroneous initiation;
Secondary accessions: Q5T381 Q96AG2

Explore the universe of human proteins at neXtProt for DBH: NX_P09172

Explore proteomics data for DBH at MOPED

Post-translational modifications: 

  • Glycosylation2 at Asn64, Asn184
  • Modification sites at PhosphoSitePlus
  • Selected DME Specific Peptides for DBH (P09172) (see all 16)
     TCDPKDY  VHHMEVF  FLQKYFH  GNEALVHH 


    See DBH Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins: NP_000778.3  
    ENSEMBL proteins: 
     ENSP00000376776   ENSP00000263611  
    Reactome Protein details: P09172

    DBH Human Recombinant Protein Products:

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    OriGene MassSpec for DBH
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    Novus Biologicals DBH Protein
    Novus Biologicals DBH Lysate
    Sino Biological Recombinant Protein for DBH
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    Browse ProSpec Recombinant Proteins
    Browse Proteins at Cloud-Clone Corp.

     
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    DBH Antibody Products:

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    DBH Assay Products:

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    Browse ELISAs at Cloud-Clone Corp.
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    Search eBioscience for ELISAs for DBH 


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    Selected InterPro protein domains (see all 8):
     IPR020611 Cu2_ascorb_mOase_CS-1
     IPR000945 DBH-rel
     IPR008977 PHM/PNGase_F_dom
     IPR000323 Cu2_ascorb_mOase_N
     IPR028461 DBH

    Graphical View of Domain Structure for InterPro Entry P09172

    ProtoNet protein and cluster: P09172

    3 Blocks protein domains:
    IPB000323 Copper type II
    IPB000945 Dopamine-beta-monooxygenase signature
    IPB005018 DOMON domain


    UniProtKB/Swiss-Prot: DOPO_HUMAN, P09172
    Similarity: Belongs to the copper type II ascorbate-dependent monooxygenase family
    Similarity: Contains 1 DOMON domain


    Find genes that share domains with DBH           About GenesLikeMe


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
    transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, Vector BioLabs and/or Addgene, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Flow cytometry from eBioscience, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Molecular Function:

         UniProtKB/Swiss-Prot Summary: DOPO_HUMAN, P09172
    Function: Conversion of dopamine to noradrenaline
    Catalytic activity: 3,4-dihydroxyphenethylamine + ascorbate + O(2) = noradrenaline + dehydroascorbate + H(2)O
    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 entry for DBH:
    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 Number (IUBMB): EC 1.14.17.11 2

         Gene Ontology (GO): Selected molecular function terms (see all 6):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0003824catalytic activity TAS3443096
    GO:0004497monooxygenase activity ----
    GO:0004500dopamine beta-monooxygenase activity TAS--
    GO:0005507copper ion binding IEA--
    GO:0016715oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, reduced ascorbate as one donor, and incorporation of one atom of oxygen ----
         
    Find genes that share ontologies with DBH           About GenesLikeMe


    Phenotypes:
         12 MGI mutant phenotypes (inferred from 3 alleles(MGI details for Dbh):
     adipose tissue  behavior/neurological  cardiovascular system  endocrine/exocrine gland  growth/size/body 
     homeostasis/metabolism  integument  mortality/aging  nervous system  normal 
     skeleton  vision/eye 

    Find genes that share phenotypes with DBH           About GenesLikeMe

    Animal Models:
         MGI mouse knock-out Dbhtm1Rpa for DBH

       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for DBH
       inGenious Targeting Laboratory: Contact us about creating complex and humanized mouse models for DBH

       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for DBH
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for DBH

    miRNA
    Products:
        
    miRTarBase miRNAs that target DBH:
    hsa-mir-335-5p (MIRT017290)

    Block miRNA regulation of human, mouse, rat DBH using miScript Target Protectors
    4 qRT-PCR Assays for microRNAs that regulate DBH:
    hsa-miR-204 hsa-miR-654-5p hsa-miR-211 hsa-miR-541
    SwitchGear 3'UTR luciferase reporter plasmidDBH 3' UTR sequence
    Inhib. RNA
    Products:
        
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    Predesigned siRNA for gene silencing in human, mouse, rat DBH

    Gene Editing
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    Sino Biological Human cDNA Clone for DBH
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    Addgene plasmids for DBH 

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    eBioscience FlowRNA Probe Sets ( VA6-11813) for DBH 


    (According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Subcellular locations from UniProtKB/Swiss-Prot
    DOPO_HUMAN, P09172: Soluble dopamine beta-hydroxylase: Cytoplasmic vesicle, secretory vesicle lumen. Cytoplasmic
    vesicle, secretory vesicle, chromaffin granule lumen
    DOPO_HUMAN, P09172: Cytoplasmic vesicle, secretory vesicle membrane; Single-pass type II membrane protein.
    Cytoplasmic vesicle, secretory vesicle, chromaffin granule membrane; Single-pass type II membrane protein
    (Potential)
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    extracellular5
    nucleus3
    cytoskeleton2
    plasma membrane2
    endoplasmic reticulum1
    golgi apparatus1
    lysosome1
    mitochondrion1
    peroxisome1

    Gene Ontology (GO): Selected cellular component terms (see all 9):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005576extracellular region NAS14718574
    GO:0005737cytoplasm TAS3443096
    GO:0016020membrane TAS3443096
    GO:0016021integral component of membrane IEA--
    GO:0030658transport vesicle membrane IEA--

    Find genes that share ontologies with DBH           About GenesLikeMe


    (SuperPaths according to PathCards, Pathways according to R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to QIAGEN, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene).
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    SuperPaths for DBH About   (see all 8)  
    See pathways by source

    SuperPathContained pathways About
    1Metabolism
    Metabolism0.38
    Metabolic pathways0.38
    2Biogenic Amine Synthesis
    Biogenic Amine Synthesis
    Catecholamine biosynthesis0.00
    3Metabolism of amino acids and derivatives
    Metabolism of amino acids and derivatives
    Amine-derived hormones0.00
    4Phenylalanine metabolism
    Tyrosine metabolism0.36
    5Tyrosine metabolism p.1 dopamine
    Tyrosine metabolism p.1 dopamine


    Find genes that share SuperPaths with DBH           About GenesLikeMe

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways


    1 Cell Signaling Technology (CST) Pathway for DBH
        Neuroscience

    1 GeneGo (Thomson Reuters) Pathway for DBH
        Tyrosine metabolism p.1 (dopamine)

    2 BioSystems Pathways for DBH
        Biogenic Amine Synthesis
    Monoamine Transport


    1 Reactome Pathway for DBH
        Catecholamine biosynthesis

    1 PharmGKB Pathway for DBH
        Sympathetic Nerve Pathway (Neuroeffector Junction)

    2 Kegg Pathways  (Kegg details for DBH):
        Tyrosine metabolism
    Metabolic pathways

    UniProtKB/Swiss-Prot: DOPO_HUMAN, P09172
    Pathway: Catecholamine biosynthesis; (R)-noradrenaline biosynthesis; (R)-noradrenaline from dopamine: step 1/1

        Pathway & Disease-focused RT2 Profiler PCR Array including DBH: 

              Amino Acid Metabolism II in human mouse rat

    Interactions:

        GeneGlobe Interaction Network for DBH

    STRING Interaction Network Preview (showing 5 interactants - click image to see 9)

    Selected Interacting proteins for DBH (P091722, 3 ENSP000003767764) via UniProtKB, MINT, STRING, and/or I2D (see all 9)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    ITSN1Q158112, 3, ENSP000003707194MINT-2843945 I2D: score=1 STRING: ENSP00000370719
    PRADC1Q9BSG03, ENSP000002580834I2D: score=1 STRING: ENSP00000258083
    AOC2ENSP000002537994STRING: ENSP00000253799
    AOC3ENSP000003123264STRING: ENSP00000312326
    COMTENSP000003545114STRING: ENSP00000354511
    About this table

    Gene Ontology (GO): Selected biological process terms (see all 26):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0001816cytokine production IEA--
    GO:0001974blood vessel remodeling IEA--
    GO:0001975response to amphetamine IEA--
    GO:0002443leukocyte mediated immunity IEA--
    GO:0007268synaptic transmission TAS2880016

    Find genes that share ontologies with DBH           About GenesLikeMe



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
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    Browse Small Molecules at EMD Millipore
       Enzo Life Sciences drugs & compounds for DBH
      Browse compounds at ApexBio 

    Browse Tocris compounds for DBH (DOPO)

    7 HMDB Compounds for DBH    About this table
    CompoundSynonyms CAS #PubMed Ids
    Ascorbic acid(+)-ascorbate (see all 140)50-81-7--
    CopperCu (see all 2)7440-50-8--
    Dopamine2-(3,4-Dihydroxyphenyl)ethylamine (see all 22)62-31-7--
    Fumaric acid(2E)-But-2-enedioate (see all 22)110-17-8--
    Norepinephrine(-)-(R)-Norepinephrine (see all 32)51-41-2--
    OxygenOxygen (see all 5)7782-44-7--
    WaterDihydrogen oxide (see all 2)7732-18-5--

    4 DrugBank Compounds for DBH    About this table
    CompoundSynonyms CAS #TypeActionsPubMed Ids
    DopamineDopamin (see all 6)51-61-6targetligand17625104 17561816 17433386 17287146 17258889
    enzymesubstrate17625104 17561816 17433386 17287146 17258889 17625104 17561816 17433386 17287146 17258889
    Vitamin CAscorbate (see all 6)50-81-7target--17139284 1894598 10947967 17016423 9505234
    DisulfiramDisulfuram (see all 16)97-77-8targetinhibitor19720750
    PropylthiouracilProcasil (see all 15)51-52-5enzymeinhibitor880264

    Selected Novoseek inferred chemical compound relationships for DBH gene (see all 106)    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    dopamine 89.9 1092 8143425 (11), 2344453 (6), 1785690 (6), 1688549 (5) (see all 99)
    1,3-dibromo-5,5-dimethylhydantoin 88.6 52 11929677 (5), 11933844 (4), 11929673 (3), 11683121 (3) (see all 10)
    peptidylglycine 84.9 24 16344970 (2), 7540562 (1), 18399242 (1), 16504568 (1) (see all 22)
    norepinephrine 82.2 310 8369609 (3), 17484728 (3), 20193660 (3), 17625104 (3) (see all 99)
    catecholamine 79.3 94 8789282 (3), 7961964 (3), 8434878 (2), 16614076 (2) (see all 49)
    nepicastat 78.3 5 9283721 (4), 10197057 (1)
    dl-threo-dihydroxyphenylserine 73.2 1 1811317 (1)
    tyrosine 72.6 224 8910734 (4), 8789282 (4), 8783042 (3), 7777160 (3) (see all 99)
    fusaric acid 68.2 7 12417657 (1), 8546710 (1), 10224312 (1), 9220358 (1)
    dops 67 2 17017570 (1), 1449487 (1)



    Find genes that share compounds with DBH           About GenesLikeMe



    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
    Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, and/or Addgene, Primers from OriGene, and/or QIAGEN, Flow cytometry from eBioscience )
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    REFSEQ mRNAs for DBH gene: 
    NM_000787.3  

    Unigene Cluster for DBH:

    Dopamine beta-hydroxylase (dopamine beta-monooxygenase)
    Hs.591890  [show with all ESTs]
    Unigene Representative Sequence: NM_000787
    2 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000393056(uc004cel.3) ENST00000263611
    miRNA
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    4 qRT-PCR Assays for microRNAs that regulate DBH:
    hsa-miR-204 hsa-miR-654-5p hsa-miR-211 hsa-miR-541
    SwitchGear 3'UTR luciferase reporter plasmidDBH 3' UTR sequence
    Inhib. RNA
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    Additional mRNA sequence: 

    BC017174.2 X13255.1 X13256.1 Y00096.1 

    11 DOTS entries:

    DT.208811  DT.92429503  DT.92429501  DT.97835491  DT.100652745  DT.99968007  DT.100638282  DT.100738899 
    DT.100738900  DT.100769572  DT.97822508 

    Selected AceView cDNA sequences (see all 3637):

    BQ940952 BM903990 BM017098 BQ944920 BU629315 BE796926 BQ054806 BE312283 
    BQ678445 BQ058012 BQ225750 CR592716 BQ949145 BQ677724 BM745451 BQ065657 
    BQ921142 BU541995 BQ934411 BQ050362 BM462656 BE843018 CD051092 BM310328 

    GeneLoc Exon Structure


    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
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    DBH expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: CTGGGCCGGG
    DBH Expression
    About this image


    DBH expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 7) fully expand
     
     Neural Tube (Nervous System)
             Metencephalon
     
     Neurons
             Dopaminergic-like neurons
     
     NULL (Uncategorized)
             Embryoid bodies
     
     Neural Ectoderm (Nervous System)
             Spherical neural masses
     
     Inner Cell Mass (Early Embryonic Tissues)    fully expand to see all 2 entries
             Human embryonic stem cells (family)
    DBH Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    DBH Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.591890
        Pathway & Disease-focused RT2 Profiler PCR Array including DBH: 
              Amino Acid Metabolism II in human mouse rat

    Primer
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    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for DBH

    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
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    This gene was present in the common ancestor of animals.

    Orthologs for DBH gene from Selected species (see all 15)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Dbh1 , 5 dopamine beta hydroxylase1, 5 80.38(n)1
    80.93(a)1
      2 (19.29 cM)5
    131661  NM_138942.31  NP_620392.21 
     271652335 
    chicken
    (Gallus gallus)
    Aves DBH1 dopamine beta-hydroxylase (dopamine beta-monooxygenase) 73.08(n)
    69(a)
      395549  XM_415429.4  XP_415429.4 
    lizard
    (Anolis carolinensis)
    Reptilia DBH6
    dopamine beta-hydroxylase (dopamine beta-monooxyge...
    60(a)
    1 ↔ 1
    GL344411.1(5901-32396)
    tropical clawed frog
    (Xenopus tropicalis)
    Amphibia dbh1 dopamine beta-hydroxylase (dopamine beta-monooxygenase) 65.46(n)
    64.43(a)
      100492247  XM_002942278.2  XP_002942324.2 
    zebrafish
    (Danio rerio)
    Actinopterygii dbh2 dopamine beta hydroxylase 76.25(n)   30505  AF075385.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta Tbh1 , 3 dopamine-beta-monooxygenase3
    Tyramine beta hydroxylase1
    40(a)3
    52.45(n)1
    41.91(a)1
      1 7D23
    317181  NM_176711.21  NP_788884.11 
    worm
    (Caenorhabditis elegans)
    Secernentea H13N06.63
    tbh-11
    Copper type II, ascorbate-dependent
    monooxygenase3
    tbh-11
    35(a)3
    45.13(n)1
    35.95(a)1
      X(15535578-15538710)3
    1816391  NM_001270335.11  NP_001257264.11 


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

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for DBH gene
    MOXD12  
    2 SIMAP similar genes for DBH using alignment to 2 protein entries:     DOPO_HUMAN (see all proteins):
    MOXD2P    MOXD1

    Find genes that share paralogs with DBH           About GenesLikeMe



    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
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    Polymorphic Variants from UniProtKB/Swiss-Prot
    DOPO_HUMAN, P09172: There are two main alleles of DBH: DBH-A with Ala-318 and DBH-B with Ser-318


    Selected SNPs for DBH (see all 732)    About this table                                 

    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 9 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    VAR_0227594
    Dopamine beta-hydroxylase deficiency (DBH deficiency)4--see VAR_0227592 D E mis40--------
    VAR_0227604
    Dopamine beta-hydroxylase deficiency (DBH deficiency)4--see VAR_0227602 D N mis40--------
    VAR_0227584
    Dopamine beta-hydroxylase deficiency (DBH deficiency)4--see VAR_0227582 V M mis40--------
    rs2676067601,2
    Cpathogenic1136517866(+) ATCTCA/GTGGTG 2 M V mis10--------
    rs775768401,2
    Cpathogenic1136521042(+) CAGGAA/C/TGCCTG 2 E D mis11NA 4458
    rs2676067611,2
    Cpathogenic1136529048(+) GAAACA/GACTCC 2 N D mis10--------
    rs2010692701,2
    C--136510091(+) ACACA-/CATGTAC 1 -- int10--------
    rs30811661,2
    C--136510364(+) TGTGG-/TTTTTTT 1 -- int1 trp30--------
    rs3696048831,2
    C--136511447(+) TGTCC-/GCC   
      ATGTCC
    ACCAT
    1 -- int10--------
    rs1146372101,2
    C,F--136515571(+) GGGGTG/ACCTGG 1 -- us2k11Minor allele frequency- A:0.03WA 118

    HapMap Linkage Disequilibrium report for DBH (136501482 - 136524466 bp)

    Structural Variations
         Database of Genomic Variants (DGV) Selected variations for DBH (see all 17):    About this table    
    Variant IDTypeSubtypePubMed ID
    esv2739170CNV Deletion23290073
    esv2739138CNV Deletion23290073
    dgv8332n71CNV Loss21882294
    nsv894081CNV Loss21882294
    dgv8333n71CNV Loss21882294
    nsv894108CNV Loss21882294
    nsv466619CNV Loss19166990
    nsv894110CNV Loss21882294
    nsv469906CNV Loss18288195
    dgv8325n71CNV Loss21882294

    Human Gene Mutation Database (HGMD): DBH
    Locus Specific Mutation Databases (LSDB): DBH

    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing DBH
    DNA2.0 Custom Variant and Variant Library Synthesis for DBH

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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    OMIM gene information: 609312   
    OMIM disorders: 223360  
    UniProtKB/Swiss-Prot: DOPO_HUMAN, P09172
  • 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. Note=The disease is caused by mutations affecting the gene represented in this entry

  • Selected diseases for DBH (see all 23):    
    About MalaCards
    postural hypotension    dopamine beta-hydroxylase deficiency    capgras syndrome    horner's syndrome
    post-traumatic stress disorder    pure autonomic failure    dysautonomia    cocaine abuse
    torsion dystonia    occipital horn syndrome    menkes disease    cocaine dependence
    mitral valve prolapse    oppositional defiant disorder    early-onset schizophrenia    migraine with aura
    hyperprolactinemia    pathological gambling    conduct disorder    familial mediterranean fever

    11 diseases from the University of Copenhagen DISEASES database for DBH:
    Hypertension     Attention deficit hyperactivity disorder     Multiple system atrophy     Conduct disorder
    Schizophrenia     Menkes disease     Dystonia musculorum deformans     Neuroblastoma
    Parkinson's disease     Capgras syndrome     Cocaine dependence

    Find genes that share disorders with DBH           About GenesLikeMe

    Selected Novoseek inferred disease relationships for DBH gene (see all 74)    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    pure autonomic failure 76.6 9 17017570 (1), 9773098 (1), 16966943 (1), 9886450 (1) (see all 8)
    menkes disease 66.9 5 15702409 (1), 12594858 (1), 8434878 (1), 19234788 (1)
    hypotension orthostatic 65.8 7 17017570 (1), 8529034 (1), 15495941 (1), 17214596 (1) (see all 7)
    attention-deficit hyperactivity disorder 65.5 12 16876143 (2), 15088079 (1), 17187001 (1), 10334470 (1) (see all 10)
    dystonia hereditary 57.6 1 1677923 (1)
    dysautonomia familial 57.4 3 16966943 (1), 9886450 (1)
    occipital horn syndrome 55.9 1 12594858 (1)
    autonomic disorder 53.4 8 12833405 (2), 2300263 (1), 12438171 (1)
    torsion dystonia 52.5 7 2215959 (2), 1677923 (1), 11571351 (1)
    pheochromocytoma 50 26 12651811 (3), 1353277 (2), 9578504 (2), 7602797 (2) (see all 13)

    GeneTests: DBH
    GeneReviews: DBH
    Genetic Association Database (GAD): DBH
    Human Genome Epidemiology (HuGE) Navigator: DBH (102 documents)

    Export disorders for DBH gene to outside databases

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
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    PubMed articles for DBH gene, integrated from 10 sources (see all 692):
    (articles sorted by number of sources associating them with DBH)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. No evidence for allelic association between schizophrenia and a functional variant of the human dopamine beta-hydroxylase gene (DBH). (PubMed id 10490716)1, 2, 4, 9 Williams H.J....Owen M.J. (Am. J. Med. Genet. 1999)
    2. Dopamine-beta-hydroxylase in postural tachycardia syndrome. (PubMed id 17625104)1, 7, 9 Garland E.M....Robertson D. (Am. J. Physiol. Heart Circ. Physiol. 2007)
    3. Association between migraine and a functional polymorphism at the dopamine beta-hydroxylase locus. (PubMed id 19219470)1, 4, 9 Fernandez F....Griffiths L.R. (Neurogenetics 2009)
    4. Expression of human dopamine beta-hydroxylase in Drosophila Schneider 2 cells. (PubMed id 8546710)1, 2, 9 Li B....Barnett J. (Biochem. J. 1996)
    5. Association between a 19 bp deletion polymorphism at the dopamine beta-hydroxylase (DBH) locus and migraine with aura. (PubMed id 17095019)1, 4, 9 Fernandez F....Griffiths L.R. (J. Neurol. Sci. 2006)
    6. Association study between the -1021C/T polymorphism of the dopamine-beta-hydroxylase gene promoter and personality traits in healthy subjects. (PubMed id 19560519)1, 4, 9 Kamata M....Otani K. (Neurosci. Lett. 2009)
    7. Cognitive performance in elderly women: significance of the 19bp insertion/deletion polymorphism in the 5' flank of the dopamine beta-hydroxylase gene, educational level, body fat measures, serum triglyceride, alcohol consumption and age. (PubMed id 17200925)1, 4, 9 Togsverd M....Rasmussen H.B. (Int J Geriatr Psychiatry 2007)
    8. Association of dopamine beta-hydroxylase polymorphism with hypertension through interaction with fasting plasma glucose in Japanese. (PubMed id 16097364)1, 4, 9 Abe M....Nakura J. (Hypertens. Res. 2005)
    9. Dopamine beta-hydroxylase (DBH) gene and schizophrenia phenotypic variability: a genetic association study. (PubMed id 12555232)1, 4, 9 Yamamoto K....Joober R. (Am. J. Med. Genet. B Neuropsychiatr. Genet. 2003)
    10. Genotype-controlled analysis of plasma dopamine beta-hydroxylase activity in psychotic unipolar major depression. (PubMed id 11904129)1, 4, 9 Cubells J.F....Gelernter J. (Biol. Psychiatry 2002)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     ANDOR
    Aliases
    Disorders
    Free Text  

      Query String
    PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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    Entrez Gene: 1621 HGNC: 2689 AceView: DBHandRPL7AandSURF2 Ensembl:ENSG00000123454 euGenes: HUgn1621
    ECgene: DBH Kegg: 1621 H-InvDB: DBH

    (According to HUGE)
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      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
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    NameDescription
    PharmGKB entry for DBH Pharmacogenomics, SNPs, Pathways
    GeneReviewshttp://www.ncbi.nlm.nih.gov/books/NBK1116/?term=DBH[genesymbol]
    Wikipedia http://en.wikipedia.org/wiki/Dopamine_beta_hydroxylase

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
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    Patent Information for DBH gene:
    Search GeneIP for patents involving DBH

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



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