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Aliases & Descriptions for DBH
(According to
1HGNC,
2Entrez Gene,
3UniProtKB/Swiss-Prot,
4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc
, and/or 7Ensembl,
8miRBase) About This Section
|
| Aliases |
|---|
| DBM 1, 2 | | EC 1.14.17.1 3 |
| | | Descriptions |
|---|
| Dopamine beta-monooxygenase 3 | | dopamine beta hydroxylase 2 | | dopamine beta-hydroxylase (dopamine beta-monooxygenase) 2 |
|
| | Search outside databases for aliases for DBH genePrevious GC identifers: GC09P127576 GC09P128007 GC09P129926 GC09P131843 GC09P133531 |
Summaries for DBH(According to Entrez Gene,
Wikipedia's
Gene Wiki,
UniProtKB/Swiss-Prot,
and/or
UniProtKB/TrEMBL)
About This Section
| EntrezGene 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] UniProtKB/Swiss-Prot: DOPO_HUMAN, P09172Function: Conversion of dopamine to noradrenalineGene Wiki entry for DBH (Dopamine_beta_hydroxylase) |
Genomic Location for DBH
(According to
GeneLoc and/or
HGNC, and/or
Entrez Gene (NCBI build 36),
and/or miRBase,
Genomic Views according to
UCSC and
Ensembl,
Transcription factor binding sites according to
SABiosciences) About This Section
| Genomic View: UCSC Golden Path with GeneCards custom track
Transcription factor binding sites upstream to the DBH gene 
Entrez Gene cytogenetic band: 9q34 Ensembl cytogenetic band: 9q34.2 HGNC cytogenetic band: 9q34DBH Gene in genomic location: bands according to Ensembl, locations according to
(and/or Entrez Gene and/or Ensembl if different)
 GeneLoc gene densities for chromosome 9 GeneLoc Exon Structure GeneLoc location for GC09P135491:
(about GC identifiers)
Start:
|
135,491,306 bp from pter |
End:
|
135,514,287 bp from pter |
Size:
|
22,982 bases |
Orientation:
|
plus strand |
RefSeq DNA sequence:- NC_000009.10 NT_035014.4
| Proteins for DBH
(According to
1UniProtKB,
and/or Ensembl,
Phosphorylation sites according to 2Phosphosite,
RefSeq according to NCBI,
PDB rendering according to OCA and/or Proteopedia,
Recombinant Proteins
from Invitrogen,
Millipore,
Sigma-Aldrich,
R&D Systems,
Enzo Life Sciences,
Abnova,
OriGene and/or,
Abcam,
Biochemical Assays by
Invitrogen,
Millipore,
R&D Systems,
Cell Signaling Technology, and/or
Enzo Life Sciences,
Ontologies according to Gene
Ontology Consortium 01 Apr 2009 and
Entrez Gene,
Antibodies by Invitrogen,
Millipore,
Sigma-Aldrich,
R&D Systems,
Cell Signaling Technology,
Abcam,
Abnova, and/or
Novus Biologicals)
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)
Secondary accessions: Q5T381 Q96AG2REFSEQ proteins: NP_000778.3
ENSEMBL proteins: ENSP00000376776 ENSP00000263611 ENSP00000360947
Human Recombinant Proteins Browse Origene for full length recombinant human proteins expressed in human HEK293 cells 
5/8 Gene Ontology (GO) cellular component terms (links to tree view) (see all 8
): About this table
Antibodies for DBH:  | Invitrogen Antibodies for DBH |  | Millipore Mono- and Polyclonal Antibodies for the study of DBH |  | Sigma-Aldrich Antibodies for DBH |  | R&D Systems Antibodies for DBH (Dopamine beta-Hydroxylase) |  | Antibodies from Abcam (Dopamine beta Hydroxylase), each with their AbpromiseSM |  | Monoclonal and Polyclonal Antibodies from Abnova (DBH) |  | Novus Biologicals Antibodies for DBH |
Assays for DBH: | Protein
Domains/ Families for DBH(According to InterPro, ProtoNet,
UniProtKB, and/or BLOCKS,
Sets of similar genes according to GeneDecks)
About This Section
| - 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, P09172Similarity: Belongs to the copper type II ascorbate-dependent monooxygenase familySimilarity: Contains 1 DOMON domain | Gene Function for DBH
(According to MGI Jun 06 2009, UniProtKB,
IUBMB,and/or Genatlas,
shRNA from
OriGene,
Sigma-Aldrich, RNAi from
Sigma-Aldrich,
RNAi Products,
Clones, and
Q-PCR Products
from Invitrogen,
Millipore,
OriGene, and/or
Abnova,
siRNAs from
Applied Biosystems,
SYBR primers from OriGene,
Cell-based Assays from Millipore,
Ontologies according to Gene Ontology Consortium 01 Apr 2009 via
Entrez Gene.)
About This Section
|               OriGene 29mer shRNA kit in GFP-retroviral vector: NM_000787
Applied Biosystems Silencer® siRNAs for DBH
Sigma-Aldrich siRNA and siRNA Panels for DBH  Sigma-Aldrich shRNA for DBH  Explore Sigma-Aldrich super-pooled esiRNAs 
              OriGene GFP tagged cDNA clone in CMV expression vector: NM_000787                                  Myc/DDK tagged cDNA clone in CMV expression vector: NM_000787                                  untagged cDNA clones in CMV expression vector (see all 3): NM_000787 
Primers: Browse
Quantitative PCR Central at Invitrogen for Q-PCR LUX™ Primers               OriGene genome-wide validated SYBR primer pairs: NM_000787
UniProtKB/Swiss-Prot: DOPO_HUMAN, P09172Function: Conversion of dopamine to noradrenalineCatalytic activity: 3,4-dihydroxyphenethylamine + ascorbate + O(2) = noradrenaline + dehydroascorbate + H(2)OInduction: Activity is enhanced by nerve growth factor (in superior cervical ganglia and adrenal medulla). Trans-synaptic stimulation with reserpine, acetylcholine and glucocorticoidsEnzyme Number (IUBMB): EC 1.14.17.1 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 schizophrenia12 MGI mutant phenotypes (inferred from 2 alleles ) (MGI details for Dbh):
5 Gene Ontology (GO) molecular function terms (links to tree view): About this table | Pathways & Interactions for DBH
(Pathways according to Invitrogen
(maps by GeneGo),
Millipore,
Cell Signaling Technology,
Sigma-Aldrich,
KEGG
and/or UniProtKB,
Sets of similar genes according to GeneDecks,
Proteins Network according to
SABiosciences,
Interactions according to 1UniProtKB,
2MINT, and/or
3STRING,
with links to IntAct and
Ensembl,
Ontologies according to Gene Ontology Consortium 01 Apr 2009 via
Entrez Gene.)
About This Section
|
1 Sigma-Aldrich "Your Favorite Gene" Pathway for DBH (Your Favorite Gene powered by Ingenuity) 
UniProtKB/Swiss-Prot: DOPO_HUMAN, P09172Pathway: Catecholamine biosynthesis; norepinephrine biosynthesis; norepinephrine from dopamine: step 1/1 Gene Network CentralTM Interacting Genes and Proteins Network for DBH 
5/51 Interacting proteins for DBH (ENSP000002636113 P091722) via UniProtKB, MINT, and/or STRING (see all 51
)About this table
5 Gene Ontology (GO) biological process terms (links to tree view): About this table
|
Drugs & Compounds for DBH(Chemical Compounds according to UniProtKB, Enzo Life Sciences,
Sigma-Aldrich, Tocris Bioscience, and/or
Novoseek and Drugs according to
Enzo Life Sciences and/or
PharmGKB)
About This Section
|  | Sigma-Aldrich Small Molecules for DBH: Inhibitor |
Browse Tocris compounds for DBH 10/56 Novoseek chemical compound relationships for DBH gene (see all 56
)
| Compound |
Score |
Articles |
PubMed IDs for Articles with Shared Sentences (# sentences) |
| 1,3-dibromo-5,5-dimethylhydantoin |
88.65 |
52 |
11929677 (5), 11933844 (4), 11929673 (3), 11683121 (3) (see all 10) |
| peptidylglycine |
84.79 |
23 |
16344970 (2), 7540562 (1), 18399242 (1), 16504568 (1) (see all 21) |
| catecholamine |
79.73 |
91 |
8789282 (3), 7961964 (3), 8434878 (2), 17131588 (2) (see all 48) |
| nepicastat |
78.65 |
5 |
9283721 (4), 10197057 (1) |
| tyrosine |
73.01 |
219 |
8910734 (4), 8789282 (4), 8783042 (3), 7777160 (3) (see all 99) |
| dops |
67.99 |
2 |
17017570 (1), 1449487 (1) |
| l-amino acid |
65.07 |
17 |
9532591 (1), 1684618 (1), 1353277 (1), 8436980 (1) (see all 12) |
| vanillylmandelic acid |
63.25 |
7 |
7842240 (2), 15702409 (1), 16952582 (1), 1950338 (1) (see all 5) |
| dmpd |
61.02 |
5 |
1785690 (4) |
| copper |
54.36 |
51 |
9839952 (3), 19178946 (3), 7546340 (2), 7864832 (2) (see all 34) |
About this table
|
Transcripts for DBH(GenBank/EMBL/DDBJ Accessions according to
Unigene
(Build 219 Homo sapiens; Jun 2 2009) or GenBank, RefSeq according to Entrez Gene,
DOTS (version 10), and/or
AceView,
non coding RNAs according to
RNAdb,
ESTs according to GeneTide,
exon structure from GeneLoc,
alternative splicing isoforms according to ASD and/or
ECgene,
RNAi Products from Invitrogen,
Millipore, and/or
Abnova,
siRNAs from Applied Biosystems,
Sigma-Aldrich,
shRNA from
Sigma-Aldrich,
OriGene,
Tagged/untagged cDNA clones from
OriGene, Expression Assays from Applied Biosystems) About This Section
|               OriGene 29mer shRNA kit in GFP-retroviral vector: NM_000787
Sigma-Aldrich siRNA and siRNA Panels for DBH  Sigma-Aldrich shRNA for DBH  Explore Sigma-Aldrich super-pooled esiRNAs 
Applied Biosystems Silencer® siRNAs: NM_000787 REFSEQ mRNAs for DBH gene: NM_000787.3
Applied Biosystems TaqMan ® Gene Expression Assays: NM_000787               OriGene GFP tagged cDNA clone in CMV expression vector: NM_000787                                  Myc/DDK tagged cDNA clone in CMV expression vector: NM_000787                                  untagged cDNA clones in CMV expression vector (see all 3): NM_000787  Additional cDNA sequence: BC017174.2 CR596213.1 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
):AA384240 BM554601 BE251943 BU931937 BG338966 BI261608 BQ925047 BM747072 CB105166 BU856394 CD370170 BU541995 BQ942874 BM557936 BQ061426 CB121193 BM739325 BE297116 CD366491 BE796389 BG820885 BQ876535 CA422504 BG288914
highest scoring ESTs for DBH:X13255 AL515786 AL517920 AL526131 AW872875 BC017174 BE260752 BF206759 BF311996 BF314790 Unigene Cluster for DBH: Dopamine beta-hydroxylase (dopamine beta-monooxygenase) Hs.591890 [show with all ESTs]Unigene Representative Sequence: NM_000787
GeneLoc Exon Structure
3 Ensembl transcripts including schematic representations: ENST00000393056
ENST00000263611
ENST00000371880
|
Expression for DBH
(Experimental results according to
1GeneNote
and GNF BioGPS,
probe sets-to-genes annotations according to
2GeneAnnot ,
3GeneTide ,
Sets of similar genes according to GeneDecks,
Electronic Northern calculations according to data from
UniGene (Build 219 Homo sapiens),
SAGE tags according to
CGAP,
plus additional links to
SOURCE, and/or
GNF
BioGPS, and/or
EXPOLDB, and/or
UniProtKB,
Expression Assays from
Applied Biosystems
)
About This Section
| DBH expression in normal and diseased human tissues
Applied Biosystems TaqMan ® Gene Expression Assays for DBH
1 / 2 / 3 3 probe-sets matching DBH gene Data from
(Publications) and GNF BioGPS About these images About these images
CGAP SAGE TAG: CTGGGCCGGG
SOURCE GeneReport for Unigene cluster: Hs.591890
Expression variation in blood from EXPOLDB for DBH |
Orthologs for DBH
(Orthologs according to
1,2HomoloGene (2older version, for species not in 1newer version),
3euGenes,
4SGD
and/or
5MGI Jun 06 2009,
with possible further links to
Flybase
and/or
WormBase,
Gene Trees according to Ensembl)
About This Section
|
Orthologs for DBH gene from 5/10 species (see all 10
)
About this table Species with no ortholog for DBH
ENSEMBL Gene Tree for DBH | Paralogs for DBH(Paralogs according to 1HomoloGene and 2Ensembl, Pseudogenes according to 3Pseudogene.org) About This Section
| Paralogs for DBH gene
- MOXD22 MOXD12
|
SNPs/Variants for DBH(According to the
1NCBI SNP Database,
2Ensembl,
3PupaSUITE, and
UniProtKB,
Linkage Disequilibrium by HapMap,
Genotyping Reagents from
Applied Biosystems)
About This Section
| UniProtKB/Swiss-Prot: DOPO_HUMAN, P09172Polymorphism: There are two main alleles of DBH: DBH-A with Ala-318 and DBH-B with Ser-318
HapMap Linkage Disequilibrium images for DBH (up to first 250kb)
|
Disorders & Mutations for DBH
(in which this Gene is Involved, According to
OMIM, UniProtKB,
Novoseek, PharmGKB,
Genatlas, GeneTests,
Blood group antigen gene mutations by BGMUT,
HGMD, GAD,
HuGE Navigator,
BCGD,
and/or TGDB.)
About This Section
|
OMIM: 609312 UniProtKB/Swiss-Prot: DOPO_HUMAN, P09172
Defects in DBH are the cause of DBH deficiency [MIM:223360]; also called 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 dysfunction10/72 Novoseek disease relationships for DBH gene (see all 72
)
| Disease |
Score |
Articles |
PubMed IDs for Articles with Shared Sentences (# sentences) |
| pure autonomic failure |
77.32 |
9 |
17017570 (1), 9773098 (1), 16966943 (1), 9886450 (1) (see all 8) |
| hypotension orthostatic |
66.77 |
7 |
17017570 (1), 8529034 (1), 15495941 (1), 17214596 (1) (see all 7) |
| menkes disease |
65.65 |
3 |
15702409 (1), 12594858 (1), 8434878 (1) |
| attention-deficit hyperactivity disorder |
64.50 |
11 |
16876143 (2), 15088079 (1), 17187001 (1), 10334470 (1) (see all 9) |
| dystonia hereditary |
60.02 |
1 |
1677923 (1) |
| dysautonomia familial |
58.91 |
3 |
16966943 (1), 9886450 (1) |
| occipital horn syndrome |
56.62 |
1 |
12594858 (1) |
| autonomic disorder |
54.44 |
8 |
12833405 (2), 2300263 (1), 12438171 (1) |
| torsion dystonia |
53.62 |
7 |
2215959 (2), 1677923 (1), 11571351 (1) |
| multiple system atrophy |
50.59 |
4 |
17017570 (1), 9773098 (1), 9886450 (1), 18368300 (1) |
About this table
GeneTests: DBH Dopamine Beta-Hydroxylase Deficiency Human Gene Mutation Database: DBH Genetic Association Database: DBH Human Genome Epidemiology Navigator: DBH (64 documents)
|
Medical News for DBH(Possibly Related Articles in
Doctor's Guide)
About This Section
| -- |
Publications for DBH (in
PubMed.
Associations of this gene to articles via
1Novoseek,
2HGNC,
3Entrez Gene,
4UniProtKB/Swiss-Prot,
5UniProtKB/TrEMBL,
6GAD, and/or
7PharmGKB)
About This Section
| 10/542 PubMed articles for DBH gene (see all 542
):- No evidence for allelic association between schizophrenia and a functional variant of the human dopamine beta-hydroxylase gene (DBH). (PubMed id 10490716)1, 3, 4, 6 Williams H.J....Owen M.J. (1999)
- Expression of human dopamine beta-hydroxylase in Drosophila Schneider 2 cells. (PubMed id 8546710)1, 3, 4 Li B....Barnett J. (1996)
- Association of dopamine beta-hydroxylase polymorphism with hypertension through interaction with fasting plasma glucose in Japanese. (PubMed id 16097364)1, 3, 6 Abe M....Nakura J. (2005)
- Dopamine beta-hydroxylase (DBH) gene and schizophrenia phenotypic variability: a genetic association study. (PubMed id 12555232)1, 3, 6 Yamamoto K....Joober R. (2003)
- Genotype-controlled analysis of plasma dopamine beta-hydroxylase activity in psychotic unipolar major depression. (PubMed id 11904129)1, 3, 6 Cubells J.F....Gelernter J. (2002)
- Mutations in the dopamine beta-hydroxylase gene are associated with human norepinephrine deficiency. (PubMed id 11857564)1, 3, 4 Kim C.-H.... Kim K.-S. (2002)
- Genetic variation in dopaminergic pathways and short-term effectiveness of the nicotine patch. (PubMed id 15077009)1, 3, 6 Johnstone E.C....Walton R.T. (2004)
- Variations in the dopamine beta-hydroxylase gene are not associated with the autonomic disorders, pure autonomic failure, or multiple system atrophy. (PubMed id 12833405)1, 3, 6 Cho S....Kim K.S. (2003)
- No association between a putative functional promoter variant in the dopamine beta-hydroxylase gene and schizophrenia. (PubMed id 12960750)1, 3, 6 Jonsson E.G....Sedvall G.C. (2003)
- Polymorphisms in the DBH and DRD2 gene regions and smoking behavior. (PubMed id 16032443)1, 3, 6 Freire M.T....Bau C.H. (2006)
|
Search for DBH
(in PubMed,
OMIM, and NCBI Bookshelf) About This Section
|
|
Genome Databases showing DBH
(According to
Entrez Gene,
HGNC,
AceView,
euGenes,
Ensembl,
miRBase,
ECgene,
and/or
H-InvDB)
About This Section
|
| Other Databases showing DBH
(According to HUGE)
About This Section
| -- |
Specialized Databases showing DBH(According to ATLAS, HORDE, IMGT, MTDB, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL, Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot) About This Section
|
| Name | Description |
| GeneReviews | http://www.genetests.org/query?gene=DBH | | Wikipedia | http://en.wikipedia.org/wiki/Dopamine_beta_hydroxylase |
|
| | | About This Section
| --
| Services for DBH(Reagents available from Applied Biosystems, Antibodies and assays by Cell
Signaling Technology, Abcam, Novus Biologicals, Sigma-Aldrich, R&D Systems, Millipore, Abnova, and/or Invitrogen, Clones available from OriGene,and/or Invitrogen, Drugs and/or compounds by Sigma-Aldrich, Enzo Life Sciences, and/or Tocris Bioscience) About This Section
| 
 Products for DBH:

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