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Gene

DBH

dopamine beta-hydroxylase

Summary

Cytogenetic location
9q34.2
Coordinates
Chromosome 9: 133,636,363–133,659,329 (GRCh38)
Exons
12 exons across 23 kb
Protein
617 amino acids
Also known as
DBM
MANE Select transcript
ENST00000393056.8NM_000787.4
Locus type
gene with protein product
  • Very high
  • Confident
  • Low
  • Very low

Reference genomeGRCh38

Positions on gene and variant pages follow this choice, in this browser.

Curated report relevant to this gene

  • BH4 Deficiency & Monoamine Neurotransmitter Disorders

    • Inborn Disorders of Neurotransmitter Metabolism and Transport

      Includes aromatic L-amino acid decarboxylase (AADC) deficiency, tyrosine hydroxylase deficiency and vesicular monoamine transporter (SLC18A2) disease, which can cause movement disorders, low muscle tone and developmental delay.

      • 2 GenCC submitters rate it definitive or strong
      What knowing changes

      Knowing allows targeted treatment such as L-dopa for tyrosine hydroxylase deficiency or gene therapy for AADC deficiency.

How DBH is laid out

  • Coding sequence
  • Untranslated region
  • Intron
  • Direction of transcription
  • Known disease-causing sites
  • Stretches short reads find hard
Chromosome 9, with a bracket where DBH sits. DBH and 24 genes near it on chromosome 9, from 133,147,846 to 134,147,845.Chromosome 99q34.2p24.3p24.2p24.1p23p22.3p22.2p22.1p21.3p21.2p21.1p13.3p13.2p13.1p12p11.2p11.1q11q12q13q21.11q21.12q21.13q21.2q21.31q21.32q21.33q22.1q22.2q22.31q22.32q22.33q31.1q31.2q31.3q32q33.1q33.2q33.3q34.11q34.12q34.13q34.2q34.3133.2 Mb133.4 Mb133.6 Mb133.8 Mb134 MbRALGDS: 133,097,657–133,149,440, reverse strandRALGDS: 133,098,121–133,163,914, reverse strandGBGT1: 133,151,020–133,164,245, reverse strandGBGT1OBP2B: 133,205,277–133,209,309, reverse strandOBP2BABO: 133,233,278–133,276,024, reverse strandABOSURF6: 133,328,684–133,336,289, reverse strandMED22: 133,338,312–133,348,140, reverse strandRPL7A: 133,347,950–133,351,435, forward strandSURF1: 133,351,069–133,356,676, reverse strandSURF1SURF2: 133,356,520–133,362,917, forward strandSURF2SURF4: 133,361,450–133,376,233, reverse strandSURF4STKLD1: 133,376,332–133,406,096, forward strandSTKLD1REXO4: 133,406,026–133,418,096, reverse strandREXO4ADAMTS13: 133,414,358–133,459,402, forward strandADAMTS13CACFD1: 133,459,965–133,470,848, forward strandCACFD1SLC2A6: 133,462,053–133,479,148, reverse strandSLC2A6MYMK: 133,514,586–133,528,612, reverse strandMYMKADAMTSL2: 133,532,164–133,575,522, forward strandADAMTSL2FAM163B: 133,577,076–133,609,420, reverse strandFAM163BDBH: 133,636,363–133,659,329, forward strandDBHSARDH: 133,663,528–133,739,976, reverse strandSARDHVAV2: 133,761,892–133,992,854, reverse strandVAV2BRD3OS: 134,025,429–134,034,666, forward strandBRD3OSBRD3: 134,030,305–134,068,560, reverse strandBRD3WDR5: 134,134,346–134,159,971, forward strandWDR5Diagram of DBH: 12 exons on the forward strand of chromosome 9Exon 1: 1 known disease-causing siteExon 2: 1 known disease-causing siteExon 3: 1 known disease-causing siteExon 5: 2 known disease-causing sitesExon 7: 1 known disease-causing siteExon 10: 1 known disease-causing siteExon 1: 133,636,363–133,636,710, 348 basesExon 2: 133,639,846–133,639,992, 147 basesExon 3: 133,642,207–133,642,464, 258 basesExon 4: 133,643,413–133,643,589, 177 basesExon 5: 133,644,218–133,644,320, 103 basesExon 6: 133,647,846–133,648,012, 167 basesExon 7: 133,651,634–133,651,777, 144 basesExon 8: 133,652,246–133,652,284, 39 basesExon 9: 133,652,940–133,652,999, 60 basesExon 10: 133,656,523–133,656,650, 128 basesExon 11: 133,657,070–133,657,229, 160 basesExon 12: 133,658,316–133,659,329, 1,014 bases1234567891011125′3′

Exons of the gene's MANE Select transcript (release v1.5), from NCBI and EMBL-EBI, on the GRCh38 reference genome.

Chromosome bands from UCSC's GRCh38 ideogram (2022-10-29).

Nearby genes from Ensembl release 116, on GRCh38.

Exons make up 2.7 kb of the gene's 23 kb; 1,854 of those bases code for the protein.

How a genome test reads DBH

9

positions in DBH where ClinVar classes a change as pathogenic or likely pathogenic

None of them falls in a region short reads find hard.

A whole genome covers all 23 kb of DBH, introns included, not only the 2.7 kb of exons.

Where this comes from

  • HGNC: the gene's symbol, name, other symbols and location.
  • MANE Select v1.5, from NCBI and EMBL-EBI: the transcript, its exons and coding sequence.
  • GenCC and ClinGen, released 2026-10-16: which conditions the gene is linked to, and how strongly.
  • The ACMG secondary findings list, SF v3.2.
  • ClinVar and the GIAB stratifications: known disease-causing sites, and the regions short reads find hard.
  • The Human Phenotype Ontology, release 2026-09-01: the traits linked to the gene. Find out more at hpo.jax.org.
  • Data release 2026.10.16-c6eea6bf.

Cite this page

APA

Dante Labs. (n.d.). DBH gene: dopamine beta-hydroxylase. Retrieved 16 October 2026, from https://dantelabs.com/genes/dbh

Vancouver

Dante Labs. DBH gene: dopamine beta-hydroxylase [Internet]. [cited 16 October 2026]. Available from: https://dantelabs.com/genes/dbh

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