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    DBH dopamine beta-hydroxylase [ Homo sapiens (human) ]

    Gene ID: 1621, updated on 7-Apr-2024

    Summary

    Official Symbol
    DBHprovided by HGNC
    Official Full Name
    dopamine beta-hydroxylaseprovided by HGNC
    Primary source
    HGNC:HGNC:2689
    See related
    Ensembl:ENSG00000123454 MIM:609312; AllianceGenome:HGNC:2689
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    DBM; ORTHYP1
    Summary
    The protein encoded by this gene is an oxidoreductase belonging to the copper type II, ascorbate-dependent monooxygenase family. The encoded protein, expressed in neuroscretory vesicles and chromaffin granules of the adrenal medulla, catalyzes the conversion of dopamine to norepinephrine, which functions as both a hormone and as the main neurotransmitter of the sympathetic nervous system. The enzyme encoded by this gene exists exists in both soluble and membrane-bound forms, depending on the absence or presence, respectively, of a signal peptide. Mutations in this gene cause dopamine beta-hydroxylate deficiency in human patients, characterized by deficits in autonomic and cardiovascular function, including hypotension and ptosis. Polymorphisms in this gene may play a role in a variety of psychiatric disorders. [provided by RefSeq, Aug 2017]
    Expression
    Biased expression in adrenal (RPKM 148.5) and liver (RPKM 11.0) See more
    Orthologs
    NEW
    Try the new Gene table
    Try the new Transcript table

    Genomic context

    See DBH in Genome Data Viewer
    Location:
    9q34.2
    Exon count:
    12
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 9 NC_000009.12 (133636363..133659329)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 9 NC_060933.1 (145852365..145875347)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 9 NC_000009.11 (136501485..136524451)

    Chromosome 9 - NC_000009.12Genomic Context describing neighboring genes Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 20464 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr9:136398691-136399232 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr9:136399233-136399772 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr9:136399773-136400314 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr9:136400855-136401396 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr9:136401937-136402476 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr9:136404277-136405008 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr9:136405742-136406473 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr9:136407445-136407945 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr9:136410411-136411066 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr9:136420460-136420962 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr9:136420963-136421464 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr9:136421967-136422468 Neighboring gene ADAMTS like 2 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr9:136436438-136437078 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr9:136442732-136443347 Neighboring gene uncharacterized LOC124902296 Neighboring gene H3K27ac hESC enhancer GRCh37_chr9:136457531-136458030 Neighboring gene family with sequence similarity 163 member B Neighboring gene H3K4me1 hESC enhancer GRCh37_chr9:136480627-136481226 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr9:136502750-136503485 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr9:136519605-136520404 Neighboring gene SARDH intron CAGE-defined T cell enhancer Neighboring gene DBH antisense RNA 1 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr9:136550530-136551030 Neighboring gene sarcosine dehydrogenase Neighboring gene H3K4me1 hESC enhancer GRCh37_chr9:136576505-136577208 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr9:136580725-136581428 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr9:136581429-136582130 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr9:136592563-136593073 Neighboring gene ReSE screen-validated silencer GRCh37_chr9:136608197-136608347 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 29248 Neighboring gene Sharpr-MPRA regulatory region 10163 Neighboring gene ReSE screen-validated silencer GRCh37_chr9:136640028-136640254 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr9:136644953-136645920 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 29249 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr9:136652072-136652624 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 20465 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 29250 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_106974 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr9:136666341-136666861 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr9:136667983-136668505 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr9:136668506-136669028 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr9:136676904-136677659 Neighboring gene vav guanine nucleotide exchange factor 2 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr9:136677660-136678414 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr9:136679171-136679924 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 29251 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 29252 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 29253 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr9:136689618-136690614 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr9:136690615-136691612 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr9:136699176-136699998 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr9:136704646-136705596 Neighboring gene Sharpr-MPRA regulatory region 14277 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 29254 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr9:136714035-136715017 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr9:136715018-136715999 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr9:136717779-136718308 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr9:136719038-136719538 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr9:136719539-136720039 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr9:136722620-136723471 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr9:136726902-136727725 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr9:136727726-136728548 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr9:136732543-136733366 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr9:136737072-136737572 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr9:136737573-136738073 Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr9:136739070-136740269 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr9:136741055-136741790 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr9:136741791-136742524 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr9:136747665-136748398 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr9:136749133-136749866 Neighboring gene MED14-independent group 3 enhancer GRCh37_chr9:136753100-136754299 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 29255 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr9:136779963-136780912 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr9:136780913-136781861 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr9:136784581-136785360 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 29256 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr9:136795832-136796480 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr9:136809459-136810312 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 29257 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 29258 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr9:136813513-136814022 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr9:136814023-136814532 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr9:136815043-136815553 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 29259 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr9:136822320-136822896 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr9:136822897-136823473 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr9:136823474-136824051 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr9:136824052-136824628 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr9:136825207-136825782 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr9:136825783-136826360 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 29262 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 29263 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr9:136835167-136836051 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr9:136836052-136836935 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 29264 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 29265 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr9:136843801-136844318 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr9:136844835-136845350 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr9:136848313-136849057 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr9:136853577-136854304 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr9:136854305-136855032 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr9:136855033-136855760 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr9:136855761-136856488 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr9:136856489-136857216 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 20468

    Genomic regions, transcripts, and products

    Expression

    • Project title: HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Apr 4 07:08:55 2018

    Bibliography

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Phenotypes

    Associated conditions

    Description Tests
    Orthostatic hypotension 1 Compare labs

    EBI GWAS Catalog

    Description
    Genome-wide meta-analyses identify multiple loci associated with smoking behavior.
    EBI GWAS Catalog

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables L-ascorbic acid binding IEA
    Inferred from Electronic Annotation
    more info
     
    enables catalytic activity TAS
    Traceable Author Statement
    more info
    PubMed 
    enables copper ion binding IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    enables copper ion binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables dopamine beta-monooxygenase activity IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    enables dopamine beta-monooxygenase activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    Process Evidence Code Pubs
    involved_in behavioral response to ethanol IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in blood vessel remodeling IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in chemical synaptic transmission TAS
    Traceable Author Statement
    more info
    PubMed 
    involved_in dopamine catabolic process IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in dopamine catabolic process IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in fear response IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in glucose homeostasis IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in homoiothermy IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in leukocyte mediated immunity IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in leukocyte migration IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in locomotory behavior IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in maternal behavior IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in memory IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in norepinephrine biosynthetic process IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in norepinephrine biosynthetic process IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in norepinephrine biosynthetic process IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in octopamine biosynthetic process IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in positive regulation of cold-induced thermogenesis ISS
    Inferred from Sequence or Structural Similarity
    more info
    PubMed 
    involved_in positive regulation of vasoconstriction IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in regulation of extrinsic apoptotic signaling pathway IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in regulation of vascular associated smooth muscle cell proliferation IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in regulation of vascular endothelial cell proliferation IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in response to amphetamine IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in response to pain IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in vasoconstriction IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in visual learning IEA
    Inferred from Electronic Annotation
    more info
     
    Component Evidence Code Pubs
    located_in centriolar satellite IDA
    Inferred from Direct Assay
    more info
     
    located_in chromaffin granule lumen IEA
    Inferred from Electronic Annotation
    more info
     
    located_in chromaffin granule membrane IEA
    Inferred from Electronic Annotation
    more info
     
    located_in cytoplasm TAS
    Traceable Author Statement
    more info
    PubMed 
    located_in endoplasmic reticulum IDA
    Inferred from Direct Assay
    more info
     
    located_in extracellular region NAS
    Non-traceable Author Statement
    more info
    PubMed 
    is_active_in extracellular space IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    located_in extracellular space IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in intracellular membrane-bounded organelle IDA
    Inferred from Direct Assay
    more info
     
    located_in membrane TAS
    Traceable Author Statement
    more info
    PubMed 
    located_in secretory granule lumen IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in secretory granule lumen TAS
    Traceable Author Statement
    more info
     
    is_active_in secretory granule membrane IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    located_in secretory granule membrane IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in synapse IEA
    Inferred from Electronic Annotation
    more info
     
    located_in transport vesicle membrane IEA
    Inferred from Electronic Annotation
    more info
     

    General protein information

    Preferred Names
    dopamine beta-hydroxylase
    Names
    dopamine beta-hydroxylase (dopamine beta-monooxygenase)
    NP_000778.3

    NCBI Reference Sequences (RefSeq)

    NEW Try the new Transcript table

    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    Genomic

    1. NG_008645.1 RefSeqGene

      Range
      5001..27967
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_000787.4NP_000778.3  dopamine beta-hydroxylase precursor

      See identical proteins and their annotated locations for NP_000778.3

      Status: REVIEWED

      Source sequence(s)
      AL365494, BC017174, CD014125, X13255
      Consensus CDS
      CCDS6977.2
      UniProtKB/Swiss-Prot
      P09172, Q5T381, Q96AG2
      Related
      ENSP00000376776.2, ENST00000393056.8
      Conserved Domains (3) summary
      pfam01082
      Location:213337
      Cu2_monooxygen; Copper type II ascorbate-dependent monooxygenase, N-terminal domain
      pfam03351
      Location:57172
      DOMON; DOMON domain
      pfam03712
      Location:362516
      Cu2_monoox_C; Copper type II ascorbate-dependent monooxygenase, C-terminal domain

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000009.12 Reference GRCh38.p14 Primary Assembly

      Range
      133636363..133659329
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060933.1 Alternate T2T-CHM13v2.0

      Range
      145852365..145875347
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)