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	DDC
Symbol Alias	AADC
Approved Name	dopa decarboxylase (aromatic L-amino acid decarboxylase)
Location	7p12.1
Position	chr7:50458436-50565457, -1
External Links	HGNC: 2719 Entrez Gene: 1644 Ensembl: ENSG00000132437 UCSC: uc003tpf.4
No. of Studies	5 (Positive: 2; Negative: 3; trend: 0)
Overlap with SZ?	YES
Overlap with MDD?	YES

Gene related studies (count: 5)

Reference	Tested Markers	Statistical Values/Author Comments	Result Category	Comment on Study
Ewald, H.,1995	Other variant: DDC_microsatellite polymorphisms	For dominant models 2 and 3 the lod scores were below -2 at zero recombination fraction. No evidence of linkage to DDC was found	Negative	Comment on Study
Speight, G.,2000	Other variant: AADC_exon 1_T>A	Case-control analysis did not suggest that genetic polymorphism in the AADC gene is associated with liability for developing schizophrenia or bipolar disorder.	Negative	Comment on Study
Borglum, A. D.,1999	Other variant: DDC_1bp_del, DDC_4bp_del	Analyzing the combined material, a significant association was found between the 1-bp deletion and BPAD with P-values of 0.037 (allelic) and 0.021 (genotypic). The frequency of the 1-bp deletion was 13.3% in patients and 9.4% in controls with a corresponding odds ratio of 1. 48 (95% CI: 1.02-2.15). The results presented suggest that DDC may act as a minor susceptibility gene for bipolar affective disorder.	Positive	Comment on Study
Borglum, A. D.,2003	Other variant: DDC_4bp_del, DDC_1bp_del	We suggest that DDC might confer susceptibility to BPAD predominantly when paternally transmitted.	Positive	Comment on Study
Jahnes, E.,2002	Other variant: DDC_1bp_del, DDC_4bp_del	Thus, our results do not support an involvement of the 1-bp or 4-bp deletion within the DDC gene in the etiology of affective disorders.	Negative	Comment on Study

Gene functional annotation

Gene related GO terms (count: 28)

GO terms by PBA (count: 1)

ID	Name	Type	Evidence[PMID]	No. of Genes in BDgene
GO:0019904	protein domain specific binding	molecular function	IEA	24

GO terms by database search (count: 27)

ID	Name	Type	Evidence[PMID]	No. of Genes in BDgene
GO:0005515	protein binding	molecular function	IPI[12864730]	563
GO:0035690	cellular response to drug	biological process	IEA	13
GO:0046684	response to pyrethroid	biological process	IEA	2
GO:0071363	cellular response to growth factor stimulus	biological process	IEA	8
GO:0015842	synaptic vesicle amine transport	biological process	IEA	2
GO:0043025	neuronal cell body	cellular component	IEA	50
GO:0030170	pyridoxal phosphate binding	molecular function	IEA	5
GO:0042423	catecholamine biosynthetic process	biological process	TAS	3
GO:0071312	cellular response to alkaloid	biological process	IEA	1
GO:0007623	circadian rhythm	biological process	IEA	40
GO:0070062	extracellular vesicular exosome	cellular component	IDA[19056867]	176
GO:0006520	cellular amino acid metabolic process	biological process	IEA	5
GO:0016597	amino acid binding	molecular function	IEA	4
GO:0008021	synaptic vesicle	cellular component	IEA	13
GO:0030424	axon	cellular component	IEA	39
GO:0033076	isoquinoline alkaloid metabolic process	biological process	IEA	2
GO:0019899	enzyme binding	molecular function	IPI[19703902]	34
GO:0046219	indolalkylamine biosynthetic process	biological process	TAS	5
GO:0042427	serotonin biosynthetic process	biological process	IEA	3
GO:0004058	aromatic-L-amino-acid decarboxylase activity	molecular function	IDA[16338639]; TAS	1
GO:0010259	multicellular organismal aging	biological process	IEA	4
GO:0044281	small molecule metabolic process	biological process	TAS	117
GO:0052314	phytoalexin metabolic process	biological process	IEA	2
GO:0005829	cytosol	cellular component	TAS	223
GO:0042416	dopamine biosynthetic process	biological process	IEA	6
GO:0036468	L-dopa decarboxylase activity	molecular function	IDA[19703902]	1
GO:0034641	cellular nitrogen compound metabolic process	biological process	TAS	20

Gene related KEGG pathways (count: 5)

KEGG pathways by PBA (count: 0)

KEGG pathways by database search (count: 5)

ID	Name	No. of Genes in BDgene
hsa00340	Histidine metabolism	6
hsa00360	Phenylalanine metabolism	3
hsa00350	Tyrosine metabolism	8
hsa00380	Tryptophan metabolism	9
hsa00950	Alkaloid biosynthesis I	2

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
DDC	AR	NO	in vitro;in vivo;yeast 2-hybrid	12864730

Related other genetic factors

Gene related SNPs (count: 0)

Gene related CNVs (count: 0)

Gene related other variants (count: 4)

Variant Name	Variant Type	Location in Gene	No. of Studies (Positive/Negative/Trend)
AADC_exon 1_T>A	point mutation	exon 1	1 (0/1/0)
DDC_4bp_del	insertion/deletion		3 (1/2/0)
DDC_1bp_del	insertion/deletion		3 (2/1/0)
DDC_microsatellite polymorphisms	microsatellite		1 (0/1/0)

Gene related regions (count: 3)

Region Name	Position	No. of Studies (Positive/Negative/Trend)
7p11-p13	chr7:43300000-59900000	1 (0/1/0)
Chr 7	chr7:0-159345973	3 (0/3/0)
7p15-q21	chr7:20900000-98400000	1 (0/1/0)

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

Gene relationship with SZ

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

Reference	Description	Result Category
10889538	Case-control analysis did not suggest that genetic polymorphism in the AADC gene is associated with liability for developing schizophrenia or bipolar disorder.	Negative

Overlap with SZ from candidate gene intersection analysis (count: 8)

Reference	ID in SZGene	Result Category
10889538	9	Negative
11673800	9	Negative
16092759	9	Negative
19944766	9	Negative
18045777	9	Negative
15318031	9	Negative
15635698	9	Negative
20016224	9	Negative

Gene relationship with MDD

Overlap with MDD from cross-disorder studies (count: 2)

Reference	Description	Category in MDD
10578236	No significant association was found between DDC gene and Unipolar patients.	Negative
12116187	Thus, our results do not support an involvement of the 1-bp or 4-bp deletion within the DDC gene in the etiology of affective disorders.	Negative

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

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Region: chr7:50458436..50565457 View in gBrowse