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DBH (dopamine beta-hydroxylase)

Identity

Alias_namesdopamine beta-hydroxylase (dopamine beta-monooxygenase)
Alias_symbol (synonym)DBM
Other alias
HGNC (Hugo) DBH
LocusID (NCBI) 1621
Atlas_Id 55960
Location 9q34.2  [Link to chromosome band 9q34]
Location_base_pair Starts at 133636363 and ends at 133659344 bp from pter ( according to hg38-Dec_2013)
Fusion genes
(updated 2017)
Data from Atlas, Mitelman, Cosmic Fusion, Fusion Cancer, TCGA fusion databases with official HUGO symbols (see references in chromosomal bands)

Note

Non-annotated gene. Preliminary data : if you are an author
who wish to write a full paper/card on this gene, go to  How to contribute

DNA/RNA

 


External links

Nomenclature
HGNC (Hugo)DBH   2689
Cards
Entrez_Gene (NCBI)DBH  1621  dopamine beta-hydroxylase
AliasesDBM
GeneCards (Weizmann)DBH
Ensembl hg19 (Hinxton)ENSG00000123454 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000123454 [Gene_View]  chr9:133636363-133659344 [Contig_View]  DBH [Vega]
ICGC DataPortalENSG00000123454
TCGA cBioPortalDBH
AceView (NCBI)DBH
Genatlas (Paris)DBH
WikiGenes1621
SOURCE (Princeton)DBH
Genetics Home Reference (NIH)DBH
Genomic and cartography
GoldenPath hg38 (UCSC)DBH  -     chr9:133636363-133659344 +  9q34.2   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)DBH  -     9q34.2   [Description]    (hg19-Feb_2009)
EnsemblDBH - 9q34.2 [CytoView hg19]  DBH - 9q34.2 [CytoView hg38]
Mapping of homologs : NCBIDBH [Mapview hg19]  DBH [Mapview hg38]
OMIM223360   609312   
Gene and transcription
Genbank (Entrez)BC017174 CD014125 DQ893630 EU176683 X13255
RefSeq transcript (Entrez)NM_000787
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)DBH
Cluster EST : UnigeneHs.591890 [ NCBI ]
CGAP (NCI)Hs.591890
Alternative Splicing GalleryENSG00000123454
Gene ExpressionDBH [ NCBI-GEO ]   DBH [ EBI - ARRAY_EXPRESS ]   DBH [ SEEK ]   DBH [ MEM ]
Gene Expression Viewer (FireBrowse)DBH [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevestigatorExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)1621
GTEX Portal (Tissue expression)DBH
Human Protein AtlasENSG00000123454-DBH [pathology]   [cell]   [tissue]
Protein : pattern, domain, 3D structure
UniProt/SwissProtP09172   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtP09172  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProP09172
Splice isoforms : SwissVarP09172
PhosPhoSitePlusP09172
Domaine pattern : Prosite (Expaxy)CU2_MONOOXYGENASE_1 (PS00084)    CU2_MONOOXYGENASE_2 (PS00085)    DOMON (PS50836)   
Domains : Interpro (EBI)Cu2_ascorb_mOase-like_C    Cu2_ascorb_mOase_CS-1    Cu2_ascorb_mOase_CS-2    Cu2_ascorb_mOase_N    Cu2_monoox_C    DBH-rel    DOMON_domain    PHM/PNGase_F_dom    Tbh/DBH   
Domain families : Pfam (Sanger)Cu2_monoox_C (PF03712)    Cu2_monooxygen (PF01082)    DOMON (PF03351)   
Domain families : Pfam (NCBI)pfam03712    pfam01082    pfam03351   
Domain families : Smart (EMBL)DoH (SM00664)  
Conserved Domain (NCBI)DBH
DMDM Disease mutations1621
Blocks (Seattle)DBH
PDB (SRS)4ZEL   
PDB (PDBSum)4ZEL   
PDB (IMB)4ZEL   
PDB (RSDB)4ZEL   
Structural Biology KnowledgeBase4ZEL   
SCOP (Structural Classification of Proteins)4ZEL   
CATH (Classification of proteins structures)4ZEL   
SuperfamilyP09172
Human Protein Atlas [tissue]ENSG00000123454-DBH [tissue]
Peptide AtlasP09172
HPRD01963
IPIIPI00171678   IPI00514852   
Protein Interaction databases
DIP (DOE-UCLA)P09172
IntAct (EBI)P09172
FunCoupENSG00000123454
BioGRIDDBH
STRING (EMBL)DBH
ZODIACDBH
Ontologies - Pathways
QuickGOP09172
Ontology : AmiGOcytokine production  blood vessel remodeling  response to amphetamine  leukocyte mediated immunity  catalytic activity  dopamine beta-monooxygenase activity  dopamine beta-monooxygenase activity  copper ion binding  extracellular region  extracellular space  cytoplasm  octopamine biosynthetic process  chemical synaptic transmission  memory  locomotory behavior  visual learning  membrane  integral component of membrane  transport vesicle membrane  secretory granule membrane  L-ascorbic acid binding  chromaffin granule lumen  secretory granule lumen  secretory granule lumen  regulation of cell proliferation  homoiothermy  dopamine catabolic process  norepinephrine biosynthetic process  norepinephrine biosynthetic process  catecholamine biosynthetic process  chromaffin granule membrane  glucose homeostasis  fear response  maternal behavior  intracellular membrane-bounded organelle  positive regulation of vasoconstriction  behavioral response to ethanol  response to pain  leukocyte migration  oxidation-reduction process  regulation of extrinsic apoptotic signaling pathway  
Ontology : EGO-EBIcytokine production  blood vessel remodeling  response to amphetamine  leukocyte mediated immunity  catalytic activity  dopamine beta-monooxygenase activity  dopamine beta-monooxygenase activity  copper ion binding  extracellular region  extracellular space  cytoplasm  octopamine biosynthetic process  chemical synaptic transmission  memory  locomotory behavior  visual learning  membrane  integral component of membrane  transport vesicle membrane  secretory granule membrane  L-ascorbic acid binding  chromaffin granule lumen  secretory granule lumen  secretory granule lumen  regulation of cell proliferation  homoiothermy  dopamine catabolic process  norepinephrine biosynthetic process  norepinephrine biosynthetic process  catecholamine biosynthetic process  chromaffin granule membrane  glucose homeostasis  fear response  maternal behavior  intracellular membrane-bounded organelle  positive regulation of vasoconstriction  behavioral response to ethanol  response to pain  leukocyte migration  oxidation-reduction process  regulation of extrinsic apoptotic signaling pathway  
Pathways : KEGGTyrosine metabolism   
NDEx NetworkDBH
Atlas of Cancer Signalling NetworkDBH
Wikipedia pathwaysDBH
Orthology - Evolution
OrthoDB1621
GeneTree (enSembl)ENSG00000123454
Phylogenetic Trees/Animal Genes : TreeFamDBH
HOVERGENP09172
HOGENOMP09172
Homologs : HomoloGeneDBH
Homology/Alignments : Family Browser (UCSC)DBH
Gene fusions - Rearrangements
Tumor Fusion PortalDBH
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerDBH [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)DBH
dbVarDBH
ClinVarDBH
1000_GenomesDBH 
Exome Variant ServerDBH
ExAC (Exome Aggregation Consortium)ENSG00000123454
GNOMAD BrowserENSG00000123454
Genetic variants : HAPMAP1621
Genomic Variants (DGV)DBH [DGVbeta]
DECIPHERDBH [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisDBH 
Mutations
ICGC Data PortalDBH 
TCGA Data PortalDBH 
Broad Tumor PortalDBH
OASIS PortalDBH [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICDBH  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDDBH
LOVD (Leiden Open Variation Database)Whole genome datasets
LOVD (Leiden Open Variation Database)LOVD - Leiden Open Variation Database
LOVD (Leiden Open Variation Database)LOVD 3.0 shared installation
BioMutasearch DBH
DgiDB (Drug Gene Interaction Database)DBH
DoCM (Curated mutations)DBH (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)DBH (select a term)
intoGenDBH
Cancer3DDBH(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM223360    609312   
Orphanet8743   
DisGeNETDBH
MedgenDBH
Genetic Testing Registry DBH
NextProtP09172 [Medical]
TSGene1621
GENETestsDBH
Target ValidationDBH
Huge Navigator DBH [HugePedia]
snp3D : Map Gene to Disease1621
BioCentury BCIQDBH
ClinGenDBH
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD1621
Chemical/Pharm GKB GenePA136
Clinical trialDBH
Miscellaneous
canSAR (ICR)DBH (select the gene name)
Probes
Litterature
PubMed196 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineDBH
EVEXDBH
GoPubMedDBH
iHOPDBH
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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© Atlas of Genetics and Cytogenetics in Oncology and Haematology
indexed on : Tue Nov 21 14:09:59 CET 2017

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