Gene Report

Basic information

Related studies

Functional annotation

Related other genetic factors

Overlap with SZ and MDD

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Basic Info

Approved Symbol	DBH
Symbol Alias	DBM
Approved Name	dopamine beta-hydroxylase (dopamine beta-monooxygenase)
Location	9q34
Position	chr9:133636360-133659344, 1
External Links	HGNC: 2689 Entrez Gene: 1621 Ensembl: ENSG00000123454 UCSC: uc004cel.3
No. of Studies	3 (Positive: 1; Negative: 2; trend: 0)
Overlap with SZ?	YES
Overlap with MDD?	YES

Gene related studies (count: 3)

Reference	Tested Markers	Statistical Values/Author Comments	Result Category	Comment on Study
Hess, C.,2009	SNP: rs1611115	No differences in DBH C-1021T genotype distribution were observed between patients with affective disorders and healthy control subjects.	Negative	Comment on Study
Ates, O.,2013	SNP: rs1611115, rs1108580, rs6271	Our data suggests that the 1603C>T polymorphism of the DBH gene is associated with susceptibility to bipolar disorder in Turkish population.	Positive	Comment on Study
Kirov, G.,1999(a)	Other variant: DBH_A304S	No statistically significant differences were found between transmitted and not transmitted alleles for any of the polymorphisms studied.	Negative	Comment on Study

Gene functional annotation

Gene related GO terms (count: 36)

GO terms by PBA (count: 3)

ID	Name	Type	Evidence[PMID]	No. of Genes in BDgene
GO:0007268	synaptic transmission	biological process	TAS[2880016]	116
GO:0016021	integral component of membrane	cellular component	IEA	219
GO:0016020	membrane	cellular component	TAS[3443096]	137

GO terms by database search (count: 33)

ID	Name	Type	Evidence[PMID]	No. of Genes in BDgene
GO:0005507	copper ion binding	molecular function	IEA	4
GO:0007626	locomotory behavior	biological process	IEA	23
GO:0002443	leukocyte mediated immunity	biological process	IEA	1
GO:0042309	homoiothermy	biological process	IEA	1
GO:0034641	cellular nitrogen compound metabolic process	biological process	TAS	20
GO:0005576	extracellular region	cellular component	NAS[14718574]	97
GO:0001974	blood vessel remodeling	biological process	IEA	8
GO:0042584	chromaffin granule membrane	cellular component	IEA	1
GO:0050900	leukocyte migration	biological process	IEA	9
GO:0001816	cytokine production	biological process	IEA	4
GO:0003824	catalytic activity	molecular function	TAS[3443096]	5
GO:0048265	response to pain	biological process	IEA	8
GO:0004500	dopamine beta-monooxygenase activity	molecular function	TAS	1
GO:0042423	catecholamine biosynthetic process	biological process	TAS	3
GO:0042421	norepinephrine biosynthetic process	biological process	IEA	2
GO:0042596	fear response	biological process	IEA	4
GO:0034774	secretory granule lumen	cellular component	TAS	2
GO:0042711	maternal behavior	biological process	IEA	5
GO:0005737	cytoplasm	cellular component	TAS[3443096]	322
GO:0008542	visual learning	biological process	IEA	17
GO:0034466	chromaffin granule lumen	cellular component	IEA	1
GO:0001975	response to amphetamine	biological process	IEA	19
GO:0055114	oxidation-reduction process	biological process	IEA	43
GO:2001236	regulation of extrinsic apoptotic signaling pathway	biological process	IEA	1
GO:0030658	transport vesicle membrane	cellular component	IEA	4
GO:0042593	glucose homeostasis	biological process	IEA	19
GO:0048149	behavioral response to ethanol	biological process	IEA	6
GO:0042127	regulation of cell proliferation	biological process	IEA	14
GO:0045907	positive regulation of vasoconstriction	biological process	IEA	12
GO:0031418	L-ascorbic acid binding	molecular function	IEA	1
GO:0044281	small molecule metabolic process	biological process	TAS	117
GO:0007613	memory	biological process	IEA	22
GO:0042420	dopamine catabolic process	biological process	IEA	5

Gene related KEGG pathways (count: 1)

KEGG pathways by PBA (count: 0)

KEGG pathways by database search (count: 1)

ID	Name	No. of Genes in BDgene	Brief Description
hsa00350	Tyrosine metabolism	8

Gene related BioCarta pathways (count: 0)

Gene related interactors from protein-protein interactions data in HPRD (count: 1)

Gene	Interactor	Interactor in BDgene?	Experiment Type	PMID
DBH	C2orf7	NO	in vitro	15498570

Related other genetic factors

Gene related SNPs (count: 4)

Literature-origin SNPs (count: 3)

rs_ID	Location	Functional Annotation	No. of Studies (Positive/Negative/Trend)
rs1611115	chr9:133635393 - 133635393(1)	upstream_gene_variant	2(1/1/0)
rs1108580	chr9:133639992 - 133639992(1)	intron_variant; splice_region_variant; synonymous_variant	1(0/1/0)
rs6271	chr9:133657152 - 133657152(1)	missense_variant; non_coding_transcript_exon_variant; non_coding_transcript_variant	1(0/1/0)

LD-proxies (count: 1)

rs_ID	Literature-origin SNPs with LD	Location	Functional Annotation
rs2519143		chr9:133637206 - 133637206(1)	intron_variant; upstream_gene_variant

Gene related CNVs (count: 0)

Gene related other variants (count: 1)

Variant Name	Variant Type	Location in Gene	No. of Studies (Positive/Negative/Trend)
DBH_A304S	point mutation		1 (0/1/0)

Gene related regions (count: 3)

Region Name	Position	No. of Studies (Positive/Negative/Trend)
Chr 9	chr9:0-138394717	3 (0/3/0)
9q33.3-34.3	chr9:123100000-138394717	1 (0/1/0)
9q34	chr9:127500000-138394717	1 (0/0/1)

Overlap with schizophrenia (SZ) and major depressive disorder (MDD)

Gene relationship with SZ

Overlap with SZ from cross-disorder studies (count: 0)

Overlap with SZ from candidate gene intersection analysis (count: 14)

Reference	ID in SZGene	Result Category
10686559	206	Negative
8908693	206	Negative
12555232	206	Negative
10490716	206	Negative
17503472	206	Negative
12960750	206	Negative
18045777	206	Negative
8925253	206	Negative
15635698	206	Negative
9084894	206	Negative
19944766	206	Negative
19673036	206	Positive
20016224	206	Positive
12497608	206	Negative

Gene relationship with MDD

Overlap with MDD from cross-disorder studies (count: 1)

Reference	Description	Category in MDD
18982239	No differences in DBH C-1021T genotype distribution were observed between patients with affective disorders and healthy control subjects.	Negative

Overlap with MDD from candidate gene intersection analysis (count: 0)

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Region: chr9:133636360..133659344 View in gBrowse