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Category   Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21
GIFtS

DBH Gene

protein-coding   GIFtS: 68
GCID: GC09P136501

dopamine beta-hydroxylase (dopamine beta-monooxygenase)

 Explore 86 diseases affiliated with
DBH via our new
 Human Malady Compendium 
Biological research products
for DBH
    

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, and/or 10fRNAdb)
About This Section

Aliases
Dopamine Beta-Hydroxylase (Dopamine Beta-Monooxygenase)1 2
DBM1 2
EC 1.14.17.13 8
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, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

Entrez Gene summary for DBH:
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)

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

Gene Wiki entry for DBH (Dopamine beta hydroxylase)


(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 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000009.11  NC_018920.1  NT_035014.4  
Regulatory elements:
   SABiosciences 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 SABiosciences Chromatin IP Primers for DBH

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays 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, neXtProt, Ensembl, and/or Reactome, Modification sites according to 2PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE MOPED and PaxDb, 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, and/or Uscn,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Uscn, Ontologies according to Gene Ontology Consortium 01 Mar 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, and/or Uscn)
About This Section

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
Subcellular location: Soluble dopamine beta-hydroxylase: Cytoplasmic vesicle, secretory vesicle lumen. Cytoplasmic
vesicle, secretory vesicle, chromaffin granule lumen
Subcellular location: 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)
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

Post-translational modifications:

  • View modification sites using PhosphoSitePlus2
  • View neXtProt modification sites for NX_P09172

  • 4/16 DME Specific Peptides for DBH (P09172) (see all 16)
     TCDPKDY  VHHMEVF  FLQKYFH  GNEALVHH 

    DBH Protein expression data from MOPED and PaxDb:    About this image 
    Estimated protein expression log10 (pmol).

    REFSEQ proteins: NP_000778.3  
    ENSEMBL proteins: 
     ENSP00000376776   ENSP00000263611  
    Reactome Protein details: P09172
    Human Recombinant Protein Products: 
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    Browse Proteins at Uscn

    Gene Ontology (GO): 5/19 cellular component terms (GO ID links to tree view) (see all 19):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005576extracellular region NAS14718574
    GO:0005624membrane fraction ----
    GO:0005625soluble fraction ----
    GO:0005737cytoplasm TAS3443096
    GO:0016020membrane TAS3443096


    DBH for ontologies           About GeneDecksing



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    (According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section

    DBH for domains           About GeneDecksing

    5/7 InterPro domains/families (see all 7):
     IPR020611 Cu2_ascorb_mOase_CS-1
     IPR000945 Dopamine_b_mOase
     IPR008977 PHM/PNGase_F_dom
     IPR000323 Cu2_ascorb_mOase_N
     IPR005018 DOMON_domain

    Graphical View of Domain Structure for InterPro Entry P09172

    ProtoNet protein and cluster: P09172

    3 Blocks protein families:
    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


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013,
    bound targets from SABiosciences, miRNA Gene Targets from miRTarBase shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene.)
    About This Section

    Function Summary:

         UniProtKB/Swiss-Prot: 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

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    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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    Gene Ontology (GO): 4 molecular function terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0003824catalytic activity TAS3443096
    GO:0004500dopamine beta-monooxygenase activity TAS--
    GO:0005507copper ion binding IEA--
    GO:0031418L-ascorbic acid binding IEA--


    DBH for ontologies           About GeneDecksing


    Animal Models:
         Mouse knock-out Dbhtm1Rpa for DBH
         9 MGI mutant phenotypes (inferred from 2 alleles(MGI details for Dbh):
     behavior/neurological  cardiovascular system  endocrine/exocrine gland  growth/size  homeostasis/metabolism 
     integument  mortality/aging  nervous system  vision/eye 

    DBH for phenotypes           About GeneDecksing


    (Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, 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 Mar 2013 via Entrez Gene).
    About This Section

    Unified GeneCards pathways - 5/8 super-pathways (see all 8About this table 
    See pathways by source

    Super-pathwaycontained gene-specific pathways
    1Tyrosine metabolism
    Tyrosine metabolism1.00
    Tyrosine metabolism p.1 (dopamine)0.28
    Tyrosine metabolism p.1 (dopamine) 0.28
    2Metabolism
    Metabolism1.00
    Metabolic pathways0.38
    3Regulation of thyroid hormone activity
    Amine-derived hormones0.21
    Biogenic Amine Synthesis0.00
    4Neuroscience
    Neuroscience1.00
    5Metabolism of amino acids and derivatives
    Metabolism of amino acids and derivatives1.00

    Pathway sources
    See GeneCards unified pathways
    Show all pathways

    1 EMD Millipore Pathway for DBH
        Tyrosine metabolism p.1 (dopamine)


    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

    4        Reactome Pathways for DBH
        Catecholamine biosynthesis
    Amine-derived hormones
    Metabolism
    Metabolism of amino acids and derivatives

    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


    DBH for pathways           About GeneDecksing

    Interactions:

        SABiosciences Gene Network CentralTM Interacting Genes and Proteins Network for DBH

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

    5/9 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): 5/40 biological process terms (GO ID links to tree view) (see all 40):    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:0006584catecholamine metabolic process ----


    DBH for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
    About This Section

    DBH for compounds           About GeneDecksing

    Browse Small Molecules at EMD Millipore
    Enzo Life Sciences drugs & compounds for DBH

    Browse Tocris compounds for DBH

    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

    10/106 Novoseek 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)

    Search CenterWatch for drugs/clinical trials and news about DBH / DOPO 

    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 235 Homo sapiens; Mar 10 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,
    RNAi Products from EMD Millipore,
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    About This Section

    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

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    Additional cDNA 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 

    24/3637 AceView cDNA sequences (see all 3637):

    CA423899 BU539563 AA315319 BU859807 CD107737 BQ073255 AW007719 BQ939949 
    BE206469 AU099663 BQ681719 BM553121 BM818163 BI856982 AI869994 BM914887 
    BU164135 BQ947931 BM740968 BG759561 BQ681493 CD364580 BM911178 BM694327 

    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™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

    DBH expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS
    CGAP TAG: CTGGGCCGGG

    Microarray
    RNAseq (Illumina Body Map)
    (100×FPKM)½
    SAGE (Serial Analysis of Gene Expression)

    About this image
    See DBH Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for DBH

    SOURCE GeneReport for Unigene cluster: Hs.591890
        SABiosciences Expression via Pathway-Focused PCR Array including DBH: 
              Amino Acid Metabolism II in human mouse rat

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    In Situ
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    (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)
    About This Section

    This gene was present in the common ancestor of animals.

    Orthologs for DBH gene from 6/21 species (see all 21)    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) 73.57(n)
    70.12(a)
      395549  XM_415429.3  XP_415429.3 
    lizard
    (Anolis carolinensis)
    Reptilia DBH6
    --
    60(a)
    1 ↔ 1
    GL344411.1(5901-31130)
    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
    52.39(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
    Protein TBH-11
    35(a)3
    46.08(n)1
    37.25(a)1
      X(15535578-15538710)3
    1816391  NM_078161.51  NP_510562.21 


    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)
    About This Section
    Paralogs for DBH gene
    PAM2  MOXD12  
    2 SIMAP similar genes for DBH using alignment to 2 protein entries:     DOPO_HUMAN (see all proteins):
    MOXD2P    MOXD1

    DBH for paralogs           About GeneDecksing



    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, UniProtKB, 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) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
    About This Section

    UniProtKB/Swiss-Prot: DOPO_HUMAN, P09172
    Polymorphism: There are two main alleles of DBH: DBH-A with Ala-318 and DBH-B with Ser-318


    10/759 NCBI SNPs in DBH are shown (see all 759    About this table
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 9 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs775768401,2
    Cpathogenic106005633(+) CAGGAA/C/TGCCTG 3 E D mis1 syn11NA 4458
    rs735599121,2
    C,--106000322(+) AGCCCG/CTGACC 1 -- us2k13Minor allele frequency- C:0.12WA CSA 121
    rs746722531,2
    C,F,--106000952(+) AAGGAC/TCTAAA 1 -- us2k11Minor allele frequency- T:0.05EA 120
    rs774541171,2
    F,--106001039(+) GGGAAA/GAGGAA 1 -- us2k11Minor allele frequency- G:0.03WA 118
    rs120026101,2
    C,F,H,--106001121(+) GGGGGG/TTGGAG 1 -- us2k15Minor allele frequency- T:0.05NA WA 246
    rs30253781,2
    H--106001533(+) GGAGCA/CGCAGT 1 -- us2k14Minor allele frequency- C:0.00NS EA 420
    rs1115142281,2
    F--106002172(+) TCAGTC/AGCTGG 2 /S /R mis12Minor allele frequency- A:0.50CSA 4
    rs132932821,2
    C,F,--106002597(+) CTTCTG/CTCACC 1 -- int13Minor allele frequency- C:0.33NA 6
    rs27978491,2
    C,F,O,A,H,--106002604(+) CACCTG/CTCAGT 1 -- int123Minor allele frequency- C:0.30NA NS EA WA CSA 2034
    rs30253841,2
    C,--106003347(+) GTCAGA/GAGGTG 1 -- int10--------

    HapMap Linkage Disequilibrium report for DBH (136501482 - 136524466 bp)
    Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
          Database of Genomic Variants (DGV) variations for DBH: --
    Human Gene Mutation Database (HGMD): DBH

    Locus Specific Mutation Databases (LSDB): DBH

    SABiosciences Cancer Mutation PCR Assays
    QIAGEN SeqTarget long-range PCR primers in human, mouse, rat 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.)
    About This Section

    DBH for disorders           About GeneDecksing

    OMIM gene information: 609312   
    OMIM disorders: 223360  
    UniProtKB/Swiss-Prot: DOPO_HUMAN, P09172
  • Defects in DBH are the cause of dopamine beta-hydroxylase deficiency (DBH deficiency) [MIM:223360]; also known
  • as norepinephrine deficiency or noradrenaline deficiency. This disorder is characterized by profound deficits in
    autonomic and cardiovascular function, but apparently only subtle signs, if any, of central nervous system dysfunction

    20/86 diseases for DBH (see all 86):    About MalaCards
    dopamine-beta-hydroxylase activity levels, plasma    dopamine beta-hydroxylase deficiency    gilles de la tourette syndrome    occipital horn syndrome
    post-traumatic stress disorder    mitral valve prolapse    dystonia musculorum deformans    attention deficit hyperactivity disorder
    manic-depressive illness    riley-day syndrome    pure autonomic failure    torsion dystonia
    alcohol withdrawal delirium    familial mediterranean fever    cocaine abuse    cocaine dependence
    postural hypotension    autonomic neuropathy    dysautonomia    pre-eclampsia

    10/74 Novoseek 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
    Dopamine Beta-Hydroxylase Deficiency

    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)
    About This Section

    PubMed articles for DBH gene, integrated from 9 sources (see all 676):
    (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. (1999)
    2. Dopamine-beta-hydroxylase in postural tachycardia syndrome. (PubMed id 17625104)1, 7, 9 Garland E.M....Robertson D. (2007)
    3. Expression of human dopamine beta-hydroxylase in Drosophila Schneider 2 cells. (PubMed id 8546710)1, 2, 9 Li B....Barnett J. (1996)
    4. 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. (2005)
    5. Dopamine beta-hydroxylase (DBH) gene and schizophrenia phenotypic variability: a genetic association study. (PubMed id 12555232)1, 4, 9 Yamamoto K....Joober R. (2003)
    6. 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. (2002)
    7. Mutations in the dopamine beta-hydroxylase gene are associated with human norepinephrine deficiency. (PubMed id 11857564)1, 2, 9 Kim C.-H.... Kim K.-S. (2002)
    8. Haplotype-controlled analysis of the association of a non-synonymous single nucleotide polymorphism at DBH (+ 1603C --> T) with plasma dopamine beta-hydroxylase activity. (PubMed id 16152569)1, 4, 9 Tang Y....Cubells J.F. (2005)
    9. No association between a putative functional promoter variant in the dopamine beta-hydroxylase gene and schizophrenia. (PubMed id 12960750)1, 4, 9 Jonsson E.G....Sedvall G.C. (2003)
    10. Polymorphisms in the DBH and DRD2 gene regions and smoking behavior. (PubMed id 16032443)1, 4, 9 Freire M.T....Bau C.H. (2006)

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     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)
    About This Section
    Entrez Gene: 1621 HGNC: 2689 AceView: DBHandRPL7AandSURF2 Ensembl:ENSG00000123454 euGenes: HUgn1621
    ECgene: DBH Kegg: 1621 H-InvDB: DBH

    (According to HUGE)
    About This Section
      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
    Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
    About This Section
    NameDescription
    PharmGKB entry for DBH Pharmacogenomics, SNPs, Pathways
    GeneReviewshttp://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/DBH
    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.)
    About This Section
    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



    (Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, SABiosciences, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Uscn, Thermo Fisher Scientific, Gene Editing from DNA2.0, Clones from EMD Millipore, OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Cell lines from GenScript and LifeMap BioReagents, PCR Arrays from SABiosciences, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, and/or Enzo Life Sciences),
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