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

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: mouse all
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Genomic context

Location:: 9q34.2

Exon count:: 12

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	9	NC_000009.12 (133636363..133659329)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	9	NC_060933.1 (145852365..145875347)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	9	NC_000009.11 (136501485..136524451)

Chromosome 9 - NC_000009.12 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: Tissue-specific circular RNA induction during human fetal development
Description: 35 human fetal samples from 6 tissues (3 - 7 replicates per tissue) collected between 10 and 20 weeks gestational time were sequenced using Illumina TruSeq Stranded Total RNA
BioProject: PRJNA270632
Publication: PMID 26076956
Analysis date: Mon Apr 2 22:54:59 2018

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Right thalamic volume mediates impact of the dopamine beta-hydroxylase gene on the endowment effect.
Title: Right thalamic volume mediates impact of the dopamine beta-hydroxylase gene on the endowment effect.
Association of dopamine beta-hydroxylase polymorphism rs1611115 and serum levels with psychiatric disorders in Pakistani population.
Title: Association of dopamine β-hydroxylase polymorphism rs1611115 and serum levels with psychiatric disorders in Pakistani population.
Effect of rs1108580 of DBH and rs1006737 of CACNA1C on Cognition and Tardive Dyskinesia in a North Indian Schizophrenia Cohort.
Title: Effect of rs1108580 of DBH and rs1006737 of CACNA1C on Cognition and Tardive Dyskinesia in a North Indian Schizophrenia Cohort.
Multifactor Dimensionality Reduction Analysis to Evaluate the Association of Dopamine Beta-Hydroxylase (DBetaH) Polymorphisms with Susceptibility to Dementia (SADEM Study).
Title: Multifactor Dimensionality Reduction Analysis to Evaluate the Association of Dopamine Beta-Hydroxylase (DΒH) Polymorphisms with Susceptibility to Dementia (SADEM Study).
Association between 19-bp Insertion/Deletion Polymorphism of Dopamine beta-Hydroxylase and Autism Spectrum Disorder in Thai Patients.
Title: Association between 19-bp Insertion/Deletion Polymorphism of Dopamine β-Hydroxylase and Autism Spectrum Disorder in Thai Patients.
Immunohistochemical Expression of Choline Acetyltransferase and Catecholamine-Synthesizing Enzymes in Head-and-Neck and Thoracoabdominal Paragangliomas and Pheochromocytomas.
Title: Immunohistochemical Expression of Choline Acetyltransferase and Catecholamine-Synthesizing Enzymes in Head-and-Neck and Thoracoabdominal Paragangliomas and Pheochromocytomas.
Association between dopamine beta-hydroxylase polymorphism and attention function in suicide attempters with chronic schizophrenia.
Title: Association between dopamine beta-hydroxylase polymorphism and attention function in suicide attempters with chronic schizophrenia.
Relationships of Cerebrospinal Fluid Alzheimer's Disease Biomarkers and COMT, DBH, and MAOB Single Nucleotide Polymorphisms.
Title: Relationships of Cerebrospinal Fluid Alzheimer's Disease Biomarkers and COMT, DBH, and MAOB Single Nucleotide Polymorphisms.
Association of regulatory variants of dopamine beta-hydroxylase with cognition and tardive dyskinesia in schizophrenia subjects.
Title: Association of regulatory variants of dopamine β-hydroxylase with cognition and tardive dyskinesia in schizophrenia subjects.
The Epistasis Project: A Multi-Cohort Study of the Effects of BDNF, DBH, and SORT1 Epistasis on Alzheimer's Disease Risk.
Title: The Epistasis Project: A Multi-Cohort Study of the Effects of BDNF, DBH, and SORT1 Epistasis on Alzheimer's Disease Risk.

Submit: New GeneRIF Correction See all GeneRIFs (147)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Associated conditions

Description	Tests
Orthostatic hypotension 1 MedGen: C4746777 OMIM: 223360 GeneReviews: Dopamine Beta-Hydroxylase Deficiency	Compare labs

EBI GWAS Catalog

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

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

DBH (e-PCR), detects polymorphism
- UniSTS:506142

DBH (e-PCR), detects polymorphism
- UniSTS:510523

GDB:178536 (e-PCR)
- UniSTS:155017

DBH (e-PCR), detects polymorphism
- UniSTS:480160

DBH_579 (e-PCR)
- UniSTS:277158

GDB:551079 (e-PCR)
- UniSTS:157641

GDB:554666 (e-PCR)
- UniSTS:157654

GDB:554668 (e-PCR)
- UniSTS:157655

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables L-ascorbic acid binding	IEA Inferred from Electronic Annotation more info
enables catalytic activity	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 copper ion binding	IEA Inferred from Electronic Annotation more info
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 dopamine beta-monooxygenase activity	IEA Inferred from Electronic Annotation more info
enables metal ion binding	IEA Inferred from Electronic Annotation more info
enables monooxygenase activity	IEA Inferred from Electronic Annotation more info
enables oxidoreductase activity	IEA Inferred from Electronic Annotation more info
enables oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, reduced ascorbate as one donor, and incorporation of one atom of oxygen	IEA Inferred from Electronic Annotation more info
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed

Process	Evidence Code	Pubs
acts_upstream_of_or_within associative learning	IEA Inferred from Electronic Annotation more info
acts_upstream_of_or_within behavioral response to ethanol	IEA Inferred from Electronic Annotation more info
acts_upstream_of_or_within blood vessel remodeling	IEA Inferred from Electronic Annotation more info
involved_in catecholamine biosynthetic process	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
acts_upstream_of_or_within dopamine catabolic process	IEA Inferred from Electronic Annotation more info
acts_upstream_of_or_within fear response	IEA Inferred from Electronic Annotation more info
acts_upstream_of_or_within glucose homeostasis	IEA Inferred from Electronic Annotation more info
acts_upstream_of_or_within homoiothermy	IEA Inferred from Electronic Annotation more info
acts_upstream_of_or_within leukocyte mediated immunity	IEA Inferred from Electronic Annotation more info
acts_upstream_of_or_within leukocyte migration	IEA Inferred from Electronic Annotation more info
acts_upstream_of_or_within locomotory behavior	IEA Inferred from Electronic Annotation more info
acts_upstream_of_or_within maternal behavior	IEA Inferred from Electronic Annotation more info
acts_upstream_of_or_within memory	IEA Inferred from Electronic Annotation more info
involved_in norepinephrine biosynthetic process	IBA Inferred from Biological aspect of Ancestor more info
acts_upstream_of_or_within norepinephrine biosynthetic process	IEA Inferred from Electronic Annotation 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	IEA Inferred from Electronic Annotation more info
involved_in positive regulation of cold-induced thermogenesis	ISS Inferred from Sequence or Structural Similarity more info	PubMed
acts_upstream_of_or_within positive regulation of vasoconstriction	IEA Inferred from Electronic Annotation more info
acts_upstream_of_or_within regulation of extrinsic apoptotic signaling pathway	IEA Inferred from Electronic Annotation more info
acts_upstream_of_or_within regulation of vascular associated smooth muscle cell proliferation	IEA Inferred from Electronic Annotation more info
acts_upstream_of_or_within regulation of vascular endothelial cell proliferation	IEA Inferred from Electronic Annotation more info
acts_upstream_of_or_within response to amphetamine	IEA Inferred from Electronic Annotation more info
acts_upstream_of_or_within response to pain	IEA Inferred from Electronic Annotation more info
acts_upstream_of vasoconstriction	IEA Inferred from Electronic Annotation more info
acts_upstream_of_or_within 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 cytoplasmic vesicle	IEA Inferred from Electronic Annotation more info
located_in endoplasmic reticulum	IDA Inferred from Direct Assay more info
located_in extracellular region	IEA Inferred from Electronic Annotation 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	IEA Inferred from Electronic Annotation 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	IEA Inferred from Electronic Annotation more info
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 secretory granule membrane	IEA Inferred from Electronic Annotation more info
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

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Preferred Names: dopamine beta-hydroxylase

Names: dopamine beta-hydroxylase (dopamine beta-monooxygenase)

NP_000778.3

EC 1.14.17.1

NCBI Reference Sequences (RefSeq)

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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

NG_008645.1 RefSeqGene

Range

5001..27967

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

NM_000787.4 → NP_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:213 → 337

Cu2_monooxygen; Copper type II ascorbate-dependent monooxygenase, N-terminal domain

pfam03351
Location:57 → 172

DOMON; DOMON domain

pfam03712
Location:362 → 516

Cu2_monoox_C; Copper type II ascorbate-dependent monooxygenase, C-terminal domain