• 30
    Haplo
    Score
  • 0
    Triplo
    Score

Gene Facts External Data Attribution

HGNC Symbol
DBH (HGNC:2689) HGNC Entrez Ensembl OMIM UCSC Uniprot GeneReviews LOVD LSDB ClinVar
HGNC Name
dopamine beta-hydroxylase
Gene type
protein-coding gene
Locus type
gene with protein product
Previous symbols
No previous names found
Alias symbols
DBM
%HI
53.24(Read more about the DECIPHER Haploinsufficiency Index)
pLI
0(Read more about gnomAD pLI score)
LOEUF
1.01(Read more about gnomAD LOEUF score)
Cytoband
9q34.2
Genomic Coordinates
GRCh37/hg19: chr9:136501485-136524451 NCBI Ensembl UCSC
GRCh38/hg38: chr9:133636363-133659329 NCBI Ensembl UCSC
MANE Select Transcript
NM_000787.4 ENST00000393056.8 (Read more about MANE Select)
Function
Catalyzes the hydroxylation of dopamine to noradrenaline (also known as norepinephrine), and is thus vital for regulation of these neurotransmitters. {ECO:0000269|PubMed:27148966, ECO:0000269|PubMed:3443096, ECO:0000269|PubMed:7961964, ECO:0000269|PubMed:8546710}. (Source: Uniprot)

Dosage Sensitivity Summary (Gene)

Dosage ID:
ISCA-12787
Curation Status:
Complete
Issue Type:
Dosage Curation - Gene
Haploinsufficiency:
Gene Associated with Autosomal Recessive Phenotype (30)
Triplosensitivity:
No Evidence for Triplosensitivity (0)
Last Evaluated:
08/22/2016

Haploinsufficiency (HI) Score Details

HI Score:
30
HI Evidence Strength:
Gene Associated with Autosomal Recessive Phenotype (Disclaimer)
HI Disease:

Triplosensitivity (TS) Score Details

TS Score:
0
TS Evidence Strength:
No Evidence for Triplosensitivity (Disclaimer)

Genomic View

Select assembly: (NC_000009.11) (NC_000009.12)