Details for: DBH

Gene ID: 1621

Symbol: DBH

Ensembl ID: ENSG00000123454

Description: dopamine beta-hydroxylase

Associated with

Cells (max top 100)

(Cell Significance Index and respective Thresholds are uniquely calculated using our advanced thresholding algorithms to reveal cell-specific gene markers)

  • Cell Name: chromaffin cell (CL0000166)
    Fold Change: 9.2882
    Cell Significance Index: 102.3300
  • Cell Name: sympathetic neuron (CL0011103)
    Fold Change: 2.0990
    Cell Significance Index: 18.5300
  • Cell Name: CD14-low, CD16-positive monocyte (CL0002396)
    Fold Change: 1.7166
    Cell Significance Index: 41.5800
  • Cell Name: hematopoietic stem cell (CL0000037)
    Fold Change: 0.4092
    Cell Significance Index: 7.0000
  • Cell Name: granulocyte monocyte progenitor cell (CL0000557)
    Fold Change: 0.3270
    Cell Significance Index: 3.6600
  • Cell Name: periportal region hepatocyte (CL0019026)
    Fold Change: 0.2778
    Cell Significance Index: 4.1000
  • Cell Name: cortical cell of adrenal gland (CL0002097)
    Fold Change: 0.2277
    Cell Significance Index: 6.1000
  • Cell Name: keratocyte (CL0002363)
    Fold Change: 0.1593
    Cell Significance Index: 2.5300
  • Cell Name: centrilobular region hepatocyte (CL0019029)
    Fold Change: 0.1110
    Cell Significance Index: 1.8700
  • Cell Name: erythroid lineage cell (CL0000764)
    Fold Change: 0.0862
    Cell Significance Index: 0.9500
  • Cell Name: hepatocyte (CL0000182)
    Fold Change: 0.0649
    Cell Significance Index: 0.9000
  • Cell Name: enteric neuron (CL0007011)
    Fold Change: 0.0580
    Cell Significance Index: 0.4200
  • Cell Name: neoplastic cell (CL0001063)
    Fold Change: 0.0393
    Cell Significance Index: 7.8000
  • Cell Name: hepatoblast (CL0005026)
    Fold Change: 0.0303
    Cell Significance Index: 0.5100
  • Cell Name: L4 intratelencephalic projecting glutamatergic neuron (CL4030063)
    Fold Change: 0.0233
    Cell Significance Index: 0.2600
  • Cell Name: cytotoxic T cell (CL0000910)
    Fold Change: 0.0185
    Cell Significance Index: 0.2700
  • Cell Name: L2/3-6 intratelencephalic projecting glutamatergic neuron (CL4023040)
    Fold Change: 0.0143
    Cell Significance Index: 2.8700
  • Cell Name: medial ganglionic eminence derived interneuron (CL4023063)
    Fold Change: 0.0105
    Cell Significance Index: 0.1500
  • Cell Name: early T lineage precursor (CL0002425)
    Fold Change: 0.0086
    Cell Significance Index: 0.1300
  • Cell Name: obsolete caudal ganglionic eminence derived GABAergic cortical interneuron (CL4023070)
    Fold Change: 0.0009
    Cell Significance Index: 0.3300
  • Cell Name: peripheral nervous system neuron (CL2000032)
    Fold Change: 0.0006
    Cell Significance Index: 0.0100
  • Cell Name: pigmented epithelial cell (CL0000529)
    Fold Change: 0.0003
    Cell Significance Index: 0.5600
  • Cell Name: cell of skeletal muscle (CL0000188)
    Fold Change: 0.0000
    Cell Significance Index: 0.0000
  • Cell Name: lens epithelial cell (CL0002224)
    Fold Change: -0.0004
    Cell Significance Index: -0.5600
  • Cell Name: hepatic stellate cell (CL0000632)
    Fold Change: -0.0005
    Cell Significance Index: -0.0100
  • Cell Name: anterior lens cell (CL0002223)
    Fold Change: -0.0005
    Cell Significance Index: -0.8500
  • Cell Name: secondary lens fiber (CL0002225)
    Fold Change: -0.0007
    Cell Significance Index: -1.0000
  • Cell Name: type B pancreatic cell (CL0000169)
    Fold Change: -0.0010
    Cell Significance Index: -0.5800
  • Cell Name: non-pigmented ciliary epithelial cell (CL0002304)
    Fold Change: -0.0012
    Cell Significance Index: -0.7400
  • Cell Name: forebrain neuroblast (CL1000042)
    Fold Change: -0.0016
    Cell Significance Index: -0.1000
  • Cell Name: ciliary muscle cell (CL1000443)
    Fold Change: -0.0022
    Cell Significance Index: -0.9900
  • Cell Name: dopaminergic neuron (CL0000700)
    Fold Change: -0.0025
    Cell Significance Index: -0.7300
  • Cell Name: pigmented ciliary epithelial cell (CL0002303)
    Fold Change: -0.0032
    Cell Significance Index: -0.4700
  • Cell Name: pancreatic acinar cell (CL0002064)
    Fold Change: -0.0043
    Cell Significance Index: -0.7400
  • Cell Name: basal epithelial cell of tracheobronchial tree (CL0002329)
    Fold Change: -0.0044
    Cell Significance Index: -0.1200
  • Cell Name: intermediate cell of urothelium (CL4030055)
    Fold Change: -0.0053
    Cell Significance Index: -0.9600
  • Cell Name: fibro/adipogenic progenitor cell (CL0009099)
    Fold Change: -0.0057
    Cell Significance Index: -0.2900
  • Cell Name: neural cell (CL0002319)
    Fold Change: -0.0060
    Cell Significance Index: -0.0700
  • Cell Name: obsolete epithelial cell of alveolus of lung (CL0010003)
    Fold Change: -0.0061
    Cell Significance Index: -0.1500
  • Cell Name: basal cell of urothelium (CL1000486)
    Fold Change: -0.0085
    Cell Significance Index: -1.0500
  • Cell Name: pancreatic ductal cell (CL0002079)
    Fold Change: -0.0085
    Cell Significance Index: -0.9700
  • Cell Name: neuron associated cell (CL0000095)
    Fold Change: -0.0086
    Cell Significance Index: -0.3500
  • Cell Name: retinal progenitor cell (CL0002672)
    Fold Change: -0.0089
    Cell Significance Index: -0.5000
  • Cell Name: tonsil germinal center B cell (CL2000006)
    Fold Change: -0.0096
    Cell Significance Index: -1.1400
  • Cell Name: megakaryocyte-erythroid progenitor cell (CL0000050)
    Fold Change: -0.0102
    Cell Significance Index: -0.1400
  • Cell Name: abnormal cell (CL0001061)
    Fold Change: -0.0106
    Cell Significance Index: -1.0800
  • Cell Name: slow muscle cell (CL0000189)
    Fold Change: -0.0107
    Cell Significance Index: -0.1600
  • Cell Name: kidney loop of Henle descending limb epithelial cell (CL1001021)
    Fold Change: -0.0135
    Cell Significance Index: -1.0700
  • Cell Name: mesenchymal cell (CL0008019)
    Fold Change: -0.0140
    Cell Significance Index: -0.2400
  • Cell Name: hippocampal granule cell (CL0001033)
    Fold Change: -0.0146
    Cell Significance Index: -0.9800
  • Cell Name: helper T cell (CL0000912)
    Fold Change: -0.0149
    Cell Significance Index: -0.2100
  • Cell Name: acinar cell of salivary gland (CL0002623)
    Fold Change: -0.0161
    Cell Significance Index: -0.7500
  • Cell Name: sensory neuron (CL0000101)
    Fold Change: -0.0176
    Cell Significance Index: -0.1000
  • Cell Name: neuron (CL0000540)
    Fold Change: -0.0179
    Cell Significance Index: -0.1700
  • Cell Name: early pro-B cell (CL0002046)
    Fold Change: -0.0180
    Cell Significance Index: -1.1600
  • Cell Name: mesonephric nephron tubule epithelial cell (CL1000022)
    Fold Change: -0.0181
    Cell Significance Index: -0.6300
  • Cell Name: endothelial cell of venule (CL1000414)
    Fold Change: -0.0189
    Cell Significance Index: -0.2100
  • Cell Name: pvalb GABAergic cortical interneuron (CL4023018)
    Fold Change: -0.0193
    Cell Significance Index: -0.4100
  • Cell Name: suprabasal keratinocyte (CL4033013)
    Fold Change: -0.0196
    Cell Significance Index: -0.3200
  • Cell Name: indirect pathway medium spiny neuron (CL4023029)
    Fold Change: -0.0199
    Cell Significance Index: -0.8800
  • Cell Name: tendon cell (CL0000388)
    Fold Change: -0.0213
    Cell Significance Index: -0.2900
  • Cell Name: erythroid progenitor cell (CL0000038)
    Fold Change: -0.0222
    Cell Significance Index: -0.2900
  • Cell Name: L5 extratelencephalic projecting glutamatergic cortical neuron (CL4023041)
    Fold Change: -0.0227
    Cell Significance Index: -0.8000
  • Cell Name: luminal adaptive secretory precursor cell of mammary gland (CL4033057)
    Fold Change: -0.0228
    Cell Significance Index: -1.0700
  • Cell Name: squamous epithelial cell (CL0000076)
    Fold Change: -0.0230
    Cell Significance Index: -0.2800
  • Cell Name: direct pathway medium spiny neuron (CL4023026)
    Fold Change: -0.0235
    Cell Significance Index: -0.8900
  • Cell Name: corticothalamic-projecting glutamatergic cortical neuron (CL4023013)
    Fold Change: -0.0239
    Cell Significance Index: -0.7600
  • Cell Name: L6b glutamatergic cortical neuron (CL4023038)
    Fold Change: -0.0240
    Cell Significance Index: -0.7900
  • Cell Name: neutrophil progenitor cell (CL0000834)
    Fold Change: -0.0247
    Cell Significance Index: -0.6600
  • Cell Name: lens fiber cell (CL0011004)
    Fold Change: -0.0247
    Cell Significance Index: -0.7800
  • Cell Name: basal cell of prostate epithelium (CL0002341)
    Fold Change: -0.0283
    Cell Significance Index: -0.7700
  • Cell Name: syncytiotrophoblast cell (CL0000525)
    Fold Change: -0.0295
    Cell Significance Index: -0.2800
  • Cell Name: L2/3 intratelencephalic projecting glutamatergic neuron (CL4030059)
    Fold Change: -0.0300
    Cell Significance Index: -0.4000
  • Cell Name: erythrocyte (CL0000232)
    Fold Change: -0.0314
    Cell Significance Index: -0.8000
  • Cell Name: kidney loop of Henle ascending limb epithelial cell (CL1001016)
    Fold Change: -0.0319
    Cell Significance Index: -0.1500
  • Cell Name: near-projecting glutamatergic cortical neuron (CL4023012)
    Fold Change: -0.0321
    Cell Significance Index: -0.8000
  • Cell Name: primordial germ cell (CL0000670)
    Fold Change: -0.0324
    Cell Significance Index: -0.2000
  • Cell Name: fibroblast of dermis (CL0002551)
    Fold Change: -0.0334
    Cell Significance Index: -0.7000
  • Cell Name: granulosa cell (CL0000501)
    Fold Change: -0.0342
    Cell Significance Index: -0.9000
  • Cell Name: kidney epithelial cell (CL0002518)
    Fold Change: -0.0343
    Cell Significance Index: -1.0100
  • Cell Name: glutamatergic neuron (CL0000679)
    Fold Change: -0.0349
    Cell Significance Index: -0.3800
  • Cell Name: leptomeningeal cell (CL0000708)
    Fold Change: -0.0356
    Cell Significance Index: -0.7600
  • Cell Name: lamp5 GABAergic cortical interneuron (CL4023011)
    Fold Change: -0.0356
    Cell Significance Index: -0.7700
  • Cell Name: fibroblast of mammary gland (CL0002555)
    Fold Change: -0.0356
    Cell Significance Index: -1.0200
  • Cell Name: megakaryocyte (CL0000556)
    Fold Change: -0.0364
    Cell Significance Index: -0.5900
  • Cell Name: preadipocyte (CL0002334)
    Fold Change: -0.0364
    Cell Significance Index: -0.7100
  • Cell Name: Purkinje cell (CL0000121)
    Fold Change: -0.0370
    Cell Significance Index: -0.8100
  • Cell Name: hippocampal pyramidal neuron (CL1001571)
    Fold Change: -0.0371
    Cell Significance Index: -1.0600
  • Cell Name: placental villous trophoblast (CL2000060)
    Fold Change: -0.0375
    Cell Significance Index: -1.0000
  • Cell Name: sst GABAergic cortical interneuron (CL4023017)
    Fold Change: -0.0384
    Cell Significance Index: -0.7600
  • Cell Name: epithelial cell of lower respiratory tract (CL0002632)
    Fold Change: -0.0387
    Cell Significance Index: -0.4300
  • Cell Name: CD4-positive, alpha-beta thymocyte (CL0000810)
    Fold Change: -0.0394
    Cell Significance Index: -0.6800
  • Cell Name: pro-T cell (CL0000827)
    Fold Change: -0.0395
    Cell Significance Index: -1.0100
  • Cell Name: type I muscle cell (CL0002211)
    Fold Change: -0.0398
    Cell Significance Index: -0.9700
  • Cell Name: cortical interneuron (CL0008031)
    Fold Change: -0.0400
    Cell Significance Index: -0.9600
  • Cell Name: chandelier pvalb GABAergic cortical interneuron (CL4023036)
    Fold Change: -0.0412
    Cell Significance Index: -0.8600
  • Cell Name: VIP GABAergic cortical interneuron (CL4023016)
    Fold Change: -0.0428
    Cell Significance Index: -0.8600
  • Cell Name: caudal ganglionic eminence derived cortical interneuron (CL4023064)
    Fold Change: -0.0429
    Cell Significance Index: -0.8600
  • Cell Name: sncg GABAergic cortical interneuron (CL4023015)
    Fold Change: -0.0437
    Cell Significance Index: -0.8600
  • Cell Name: precursor B cell (CL0000817)
    Fold Change: -0.0441
    Cell Significance Index: -0.5700

Cell ID: Standard Cell Ontology term used for mapping and comparing cells across experiments. Ensures consistency in analyzing cellular functions across tissues.
Fold Change: Represents the ratio of the current Cell Significance Index to the Cell Significance Index Threshold, indicating how much the gene expression has changed compared to a baseline.
Cell Significance Index: Reflects how strongly a gene is expressed in this specific cell.

Cell ID: Standard Cell Ontology term used for mapping and comparing cells across experiments. Ensures consistency in analyzing cellular functions across tissues.
Fold Change: Represents the ratio of the current Cell Significance Index to the Cell Significance Index Threshold, indicating how much the gene expression has changed compared to a baseline.
Cell Significance Index: Reflects how strongly a gene is expressed in this cell type. Calculated using techniques like effect size estimation and bootstrapping for reliability.

Cell ID: Standard Cell Ontology term used for mapping and comparing cells across experiments. Ensures consistency in analyzing cellular functions across tissues.
Fold Change: Represents the ratio of the current Cell Significance Index to the Cell Significance Index Threshold, indicating how much the gene expression has changed compared to a baseline.
Cell Significance Index: Reflects how strongly a gene is expressed in this cell type. Calculated using techniques like effect size estimation and bootstrapping for reliability.

Other Information

**Key Characteristics:** DBH is a copper-dependent monooxygenase enzyme, primarily expressed in chromaffin cells, sympathetic neurons, and blood vessel endothelial cells. Its unique structure, comprising eight transmembrane alpha-helices, enables it to facilitate the conversion of dopamine to norepinephrine, a critical step in catecholamine biosynthesis. DBH's high specificity and affinity for dopamine make it an essential component in the regulation of sympathetic tone and blood pressure. **Pathways and Functions:** DBH is intricately involved in various signaling pathways, including: 1. **Catecholamine biosynthesis**: DBH catalyzes the conversion of dopamine to norepinephrine, which is then further metabolized to epinephrine. This pathway is crucial for regulating sympathetic tone, blood pressure, and cardiovascular function. 2. **Blood vessel remodeling**: DBH has been implicated in the regulation of vascular endothelial cell proliferation and vasoconstriction, highlighting its role in cardiovascular disease. 3. **Neurotransmission**: DBH's involvement in the regulation of synaptic transmission, particularly in the brain, has significant implications for understanding neurological disorders. 4. **Immune responses**: DBH has been shown to play a role in leukocyte-mediated immunity, leukocyte migration, and the regulation of extrinsic apoptotic signaling pathways. **Clinical Significance:** DBH's dysregulation has been implicated in various diseases and disorders, including: 1. **Hypertension**: DBH's role in regulating blood pressure makes it an attractive target for the development of novel antihypertensive therapies. 2. **Neurological disorders**: DBH's involvement in neurotransmission and synaptic plasticity has sparked interest in its potential role in the pathogenesis of neurodegenerative diseases, such as Parkinson's and Alzheimer's. 3. **Cardiovascular disease**: DBH's regulation of vascular endothelial cell proliferation and vasoconstriction makes it a potential target for the prevention and treatment of cardiovascular disease. 4. **Cancer**: DBH's involvement in immune responses and its expression in various cancer types highlight its potential as a biomarker and therapeutic target. In conclusion, DBH is a multifaceted enzyme with far-reaching implications for our understanding of catecholamine biosynthesis, blood vessel remodeling, neurotransmission, and immune responses. Further research into DBH's mechanisms and clinical significance will undoubtedly uncover new avenues for the prevention and treatment of various diseases. **References:** * [Insert relevant references here] Note: This article is a summary of the provided gene information and is intended to provide a comprehensive overview of DBH's characteristics, pathways, functions, and clinical significance.

Genular Protein ID: 2927869282

Symbol: DOPO_HUMAN

Name: Soluble dopamine beta-hydroxylase

UniProtKB Accession Codes:

P09172 Q5T381 Q96AG2

Database IDs:

AGR 1 AlphaFoldDB 1 Antibodypedia 1 BRENDA 1 Bgee 1 BindingDB 1 BioCyc 1 BioGRID 1 BioGRID-ORCS 1 BioMuta 1 CCDS 1 CDD 1 CTD 1 ChEBI 13 ChEMBL 1 ChiTaRS 1 DMDM 1 DNASU 1 DisGeNET 1 DrugBank 8 DrugCentral 1 EC 1 EMBL 5 Ensembl 1 ExpressionAtlas 1 GO 40 Gene3D 2 GeneCards 1 GeneReviews 1 GeneTree 1 GeneWiki 1 GenomeRNAi 1 GlyConnect 1 GlyCosmos 1 GlyGen 1 GuidetoPHARMACOLOGY 1 HGNC 1 HOGENOM 1 HPA 1 InParanoid 1 IntAct 1 InterPro 11 KEGG 1 MANE-Select 1 MIM 3 MINT 1 MalaCards 1 MassIVE 1 NCBI Taxonomy 1 OMA 1 OpenTargets 1 Orphanet 1 OrthoDB 1 PANTHER 2 PDB 1 PDBsum 1 PIR 1 PRINTS 1 PRO 1 PROSITE 3 PathwayCommons 1 PaxDb 1 PeptideAtlas 1 Pfam 3 PharmGKB 1 Pharos 1 PhosphoSitePlus 1 PhylomeDB 1 Proteomes 1 ProteomicsDB 1 RNAct 1 Reactome 1 RefSeq 1 Rhea 2 SIGNOR 1 SMART 1 SMR 1 STRING 1 SUPFAM 1 SignaLink 1 SwissPalm 1 TreeFam 1 UCSC 1 UniPathway 1 VEuPathDB 1 eggNOG 1 iPTMnet 1 neXtProt 1

Citations:

PubMed ID: 15164053

Title: DNA sequence and analysis of human chromosome 9.

PubMed ID: 15164053

DOI: 10.1038/nature02465

PubMed ID: 3443096

Title: The primary structure of human dopamine-beta-hydroxylase: insights into the relationship between the soluble and the membrane-bound forms of the enzyme.

PubMed ID: 3443096

DOI: 10.1002/j.1460-2075.1987.tb02734.x

PubMed ID: 15489334

Title: The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).

PubMed ID: 15489334

DOI: 10.1101/gr.2596504

PubMed ID: 2922261

Title: Human dopamine beta-hydroxylase gene: two mRNA types having different 3'-terminal regions are produced through alternative polyadenylation.

PubMed ID: 2922261

DOI: 10.1093/nar/17.3.1089

PubMed ID: 8546710

Title: Expression of human dopamine beta-hydroxylase in Drosophila Schneider 2 cells.

PubMed ID: 8546710

DOI: 10.1042/bj3130057

PubMed ID: 7961964

Title: Functional and high level expression of human dopamine beta-hydroxylase in transgenic mice.

PubMed ID: 7961964

DOI: 10.1016/s0021-9258(18)43941-5

PubMed ID: 16335952

Title: Human plasma N-glycoproteome analysis by immunoaffinity subtraction, hydrazide chemistry, and mass spectrometry.

PubMed ID: 16335952

DOI: 10.1021/pr0502065

PubMed ID: 19139490

Title: A strategy for precise and large scale identification of core fucosylated glycoproteins.

PubMed ID: 19139490

DOI: 10.1074/mcp.m800504-mcp200

PubMed ID: 27148966

Title: Human bacterial artificial chromosome (BAC) transgenesis fully rescues noradrenergic function in dopamine beta-hydroxylase knockout mice.

PubMed ID: 27148966

DOI: 10.1371/journal.pone.0154864

PubMed ID: 27152332

Title: The crystal structure of human dopamine beta-hydroxylase at 2.9 A resolution.

PubMed ID: 27152332

DOI: 10.1126/sciadv.1500980

PubMed ID: 10490716

Title: No evidence for allelic association between schizophrenia and a functional variant of the human dopamine beta-hydroxylase gene (DBH).

PubMed ID: 10490716

DOI: 10.1002/(sici)1096-8628(19991015)88:5<557::aid-ajmg22>3.0.co;2-f

PubMed ID: 10391209

Title: Characterization of single-nucleotide polymorphisms in coding regions of human genes.

PubMed ID: 10391209

DOI: 10.1038/10290

PubMed ID: 10391210

Title: Patterns of single-nucleotide polymorphisms in candidate genes for blood-pressure homeostasis.

PubMed ID: 10391210

DOI: 10.1038/10297

PubMed ID: 11857564

Title: Mutations in the dopamine beta-hydroxylase gene are associated with human norepinephrine deficiency.

PubMed ID: 11857564

DOI: 10.1002/ajmg.10196.abs

Sequence Information:

  • Length: 617
  • Mass: 69065
  • Checksum: 4D5586F0E358885D
  • Sequence:
    • MPALSRWASL PGPSMREAAF MYSTAVAIFL VILVAALQGS APRESPLPYH IPLDPEGSLE 
LSWNVSYTQE AIHFQLLVRR LKAGVLFGMS DRGELENADL VVLWTDGDTA YFADAWSDQK 
GQIHLDPQQD YQLLQVQRTP EGLTLLFKRP FGTCDPKDYL IEDGTVHLVY GILEEPFRSL 
EAINGSGLQM GLQRVQLLKP NIPEPELPSD ACTMEVQAPN IQIPSQETTY WCYIKELPKG 
FSRHHIIKYE PIVTKGNEAL VHHMEVFQCA PEMDSVPHFS GPCDSKMKPD RLNYCRHVLA 
AWALGAKAFY YPEEAGLAFG GPGSSRYLRL EVHYHNPLVI EGRNDSSGIR LYYTAKLRRF 
NAGIMELGLV YTPVMAIPPR ETAFILTGYC TDKCTQLALP PSGIHIFASQ LHTHLTGRKV 
VTVLVRDGRE WEIVNQDNHY SPHFQEIRML KKVVSVHPGD VLITSCTYNT EDRELATVGG 
FGILEEMCVN YVHYYPQTQL ELCKSAVDAG FLQKYFHLIN RFNNEDVCTC PQASVSQQFT 
SVPWNSFNRD VLKALYSFAP ISMHCNKSSA VRFQGEWNLQ PLPKVISTLE EPTPQCPTSQ 
GRSPAGPTVV SIGGGKG

Database document:

This is a preview of the gene's schema. Only a few entries are kept for 'singleCellExpressions,' 'mRNAExpressions,' and other large data arrays for visualization purposes. You can zoom in with the mouse wheel for a closer view, and the text will adjust automatically if necessary. For the full schema, download it here.