Gene Report

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Basic Info

Approved Symbol	ALDH2
Approved Name	aldehyde dehydrogenase 2 family (mitochondrial)
Location	12q24.12
Position	chr12:111766887-111817529, 1
External Links	HGNC: 404 Entrez Gene: 217 Ensembl: ENSG00000111275 UCSC: uc001tst.3
No. of Studies	3 (Positive: 3; Negative: 0; trend: 0)
Overlap with SZ?	NO
Overlap with MDD?	NO

Gene related studies (count: 3)

Reference	Tested Markers	Statistical Values/Author Comments	Result Category	Comment on Study
Lee, S. Y., 2012	Other variant: ALDH2_12 allele	ALDH211: P-value = 0.002, OR(95% CI)=4.48(1.76-11.40) in BP-I, P-value = 0.425, OR(95% CI)=1.34(0.66-2.73) in BP-II. The regression showed a significant association of the ALDH2 with BP-I only.	Positive	Comment on Study
Lee, S. Y.,2010	Haplotype: ALDH2_1/2 - rs1800497((ALDH2_11)-(DRD2 Taq-I A1/A2)), ALDH2_1/2 - rs1800497((ALDH2_11)-(DRD2Taq-I A1/A1)) Other variant: ALDH2_1/2	Our findings may provide initial evidence that the ALDH2 and DRD2/ANKK1 genes interact in specific subtypes of bipolar disorders. Our findings also suggest a unique genetic distinction between bipolar I and bipolar II disorders.	Positive	Comment on Study
Wang, Y. S., 2013		a significant interaction of the DRD2 Taq-I A1/A1 and the ALDH211 genotypes in BP-II without AD was revealed compared with normal controls	Positive	Comment on Study

Gene functional annotation

Gene related GO terms (count: 13)

ID	Name	Type	Evidence[PMID]	No. of Genes in BDgene
GO:0007268	synaptic transmission	biological process	TAS	116

ID	Name	Type	Evidence[PMID]	No. of Genes in BDgene
GO:0009055	electron carrier activity	molecular function	TAS[8903321]	5
GO:0004030	aldehyde dehydrogenase [NAD(P)+] activity	molecular function	TAS[8903321]	1
GO:0006068	ethanol catabolic process	biological process	IEA	1
GO:0070062	extracellular vesicular exosome	cellular component	IDA[19056867]	176
GO:0005759	mitochondrial matrix	cellular component	TAS	11
GO:0044281	small molecule metabolic process	biological process	TAS	117
GO:0042136	neurotransmitter biosynthetic process	biological process	TAS	10
GO:0005975	carbohydrate metabolic process	biological process	TAS[8903321]	12
GO:0006805	xenobiotic metabolic process	biological process	TAS	19
GO:0006069	ethanol oxidation	biological process	TAS	1
GO:0006066	alcohol metabolic process	biological process	TAS[1306115]	1
GO:0004029	aldehyde dehydrogenase (NAD) activity	molecular function	EXP; IDA[4015840]	2

Gene related KEGG pathways (count: 15)

ID	Name	No. of Genes in BDgene
hsa00071	Fatty acid metabolism	3
hsa00220	Urea cycle and metabolism of amino groups	4
hsa00620	Pyruvate metabolism	2

ID	Name	No. of Genes in BDgene
hsa00053	Ascorbate and aldarate metabolism	2
hsa00120	Bile acid biosynthesis	6
hsa00561	Glycerolipid metabolism	6
hsa00641	3-Chloroacrylic acid degradation	2
hsa00640	Propanoate metabolism	2
hsa00310	Lysine degradation	2
hsa00280	Valine, leucine and isoleucine degradation	4
hsa00340	Histidine metabolism	6
hsa00650	Butanoate metabolism	7
hsa00410	beta-Alanine metabolism	4
hsa00380	Tryptophan metabolism	9
hsa00903	Limonene and pinene degradation	2

Gene related BioCarta pathways (count: 0)

Gene related interactors from protein-protein interactions data in HPRD (count: 9)

Gene	Interactor	Interactor in BDgene?	Experiment Type	PMID
ALDH2	C2orf18	NO	yeast 2-hybrid	16169070
ALDH2	IGSF21	YES	yeast 2-hybrid	16169070
ALDH2	UNC119	NO	yeast 2-hybrid	16169070
ALDH2	HSPD1	NO	yeast 2-hybrid	12387818
ALDH2	EIF6	NO	yeast 2-hybrid	16169070
ALDH2	FAM45B	NO	yeast 2-hybrid	16169070
ALDH2	HSPE1	NO	yeast 2-hybrid	12387818
ALDH2	C14orf1	NO	yeast 2-hybrid	16169070
ALDH2	CRMP1	NO	yeast 2-hybrid	16169070

Related other genetic factors

Gene related SNPs (count: 0)

Gene related CNVs (count: 0)

Gene related other variants (count: 2)

Variant Name	Variant Type	Location in Gene	No. of Studies (Positive/Negative/Trend)
ALDH2_1/2	point mutation		1 (1/0/0)
ALDH2_12 allele	others		1 (0/1/0)

Gene related regions (count: 4)

Region Name	Position	No. of Studies (Positive/Negative/Trend)
Chr 12	chr12:0-133275309	3 (0/3/0)
12q24	chr12:108600000-133275309	4 (1/1/2)
12q23-q24	chr12:95800000-133275309	3 (2/0/1)
12q	chr12:38200000-133851895	1 (1/0/0)

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

Gene relationship with SZ

Gene relationship with MDD

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Region: chr12:111766887..111817529 View in gBrowse