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	DAO
Symbol Alias	DAMOX
Approved Name	D-amino-acid oxidase
Location	12q24.11
Position	chr12:108858932-108901043, 1
External Links	HGNC: 2671 Entrez Gene: 1610 Ensembl: ENSG00000110887 UCSC: uc001tnr.4
No. of Studies	5 (Positive: 1; Negative: 4; trend: 0)
Overlap with SZ?	YES
Overlap with MDD?	NO

Gene related studies (count: 5)

Reference	Tested Markers	Statistical Values/Author Comments	Result Category	Comment on Study
Schumacher, J.,2004	Haplotype: MDAAO4 - MDAAO5 - MDAAO6(A-C-G), MDAAO4 - MDAAO5 - MDAAO6(A-C-T), MDAAO4 - MDAAO5 - MDAAO6(C-C-G), MDAAO4 - MDAAO5 - MDAAO6(C-T-T) Other variant: DAO_MDAAO4, DAO_MDAAO5, DAO_MDAAO6	DAAO was associated with schizophrenia, but not with BPAD.	Negative	Comment on Study
Gaysina, D.,2010	SNP: rs3741775 Haplotype: rs1935062 - rs3741775(), rs3916965 - rs3741775()	In conclusion, our results in two independent Caucasian samples did not provide evidence for association of DAOA or DAO with BD, nor did we find convincing evidence of statistical epitasis.	Negative	Comment on Study
Prata, D., 2008	SNP: rs2111902, rs3741775, rs3918346, rs3918347 Haplotype: rs2111902 - rs3918346(), rs2111902 - rs3918346(2-2: A-T), rs2111902 - rs3918346 - rs3741775(), rs2111902 - rs3918346 - rs3741775(2-2-1: A-T-T), rs2111902 - rs3918346 - rs3916972(), rs2111902 - rs3918346 - rs3916972(2-2-1: A-T-A)	Analysis of each SNP individually showed no significant association.	Negative	Comment on Study
Papagni, S. A.,2011	SNP: rs3918346	There were no significant effects of diagnosis or of genotype in comparisons involving bipolar patients.	Negative	Comment on Study
Fallin, M. D.,2005		5 SNP typed, Median D'=0.89, Median r<sup>2</sup> =0.26, 2 LD blocks, 0.27 block coverage, there exists SNP or haplotype nominal P-value < 0.01 in BP and all SNP or haplotype P-value > 0.05 in SZ/SZA.. This gene is highly suggestive to BP , not suggestive to SZ/SZA.	Positive	Comment on Study

Gene functional annotation

Gene related GO terms (count: 21)

GO terms by PBA (count: 2)

ID	Name	Type	Evidence[PMID]	No. of Genes in BDgene
GO:0048037	cofactor binding	molecular function	IDA[20603179]	3
GO:0005102	receptor binding	molecular function	IPI[20178365]	37

GO terms by database search (count: 19)

ID	Name	Type	Evidence[PMID]	No. of Genes in BDgene
GO:0070178	D-serine metabolic process	biological process	IDA[21679769]	2
GO:0006562	proline catabolic process	biological process	IDA[16616139]	2
GO:0034641	cellular nitrogen compound metabolic process	biological process	TAS	20
GO:0005782	peroxisomal matrix	cellular component	TAS	3
GO:0003884	D-amino-acid oxidase activity	molecular function	IDA[12364586]; TAS	1
GO:0005778	peroxisomal membrane	cellular component	IDA[21679769]	2
GO:0055114	oxidation-reduction process	biological process	IEA	43
GO:0005829	cytosol	cellular component	IDA[21679769]	223
GO:0044281	small molecule metabolic process	biological process	TAS	117
GO:0006551	leucine metabolic process	biological process	IEA	1
GO:0046983	protein dimerization activity	molecular function	IDA[16616139]	19
GO:0042416	dopamine biosynthetic process	biological process	IDA[17303072]	6
GO:0005741	mitochondrial outer membrane	cellular component	IDA[21679769]	10
GO:0046487	glyoxylate metabolic process	biological process	TAS	1
GO:0071949	FAD binding	molecular function	IDA[16616139]	3
GO:0005515	protein binding	molecular function	IPI[12364586]	563
GO:0036088	D-serine catabolic process	biological process	IDA[18544534]	1
GO:0055130	D-alanine catabolic process	biological process	IDA[16616139]	1
GO:0005777	peroxisome	cellular component	IDA[18544534]	5

Gene related KEGG pathways (count: 3)

KEGG pathways by PBA (count: 1)

ID	Name	No. of Genes in BDgene	Brief Description
hsa00260	Glycine, serine and threonine metabolism	3

KEGG pathways by database search (count: 2)

ID	Name	No. of Genes in BDgene	Brief Description
hsa00330	Arginine and proline metabolism	4
hsa00472	D-Arginine and D-ornithine metabolism	1

Gene related BioCarta pathways (count: 0)

Gene related interactors from protein-protein interactions data in HPRD (count: 2)

Gene	Interactor	Interactor in BDgene?	Experiment Type	PMID
DAO	ABP1	NO	in vivo	8195119
DAO	DAOA	YES	in vitro;yeast 2-hybrid	12364586

Related other genetic factors

Gene related SNPs (count: 9)

Literature-origin SNPs (count: 4)

rs_ID	Location	Functional Annotation	No. of Studies (Positive/Negative/Trend)
rs3918346	chr12:108888108 - 108888108(1)	downstream_gene_variant; intron_variant; NMD_transcript_variant	3(0/3/0)
rs3741775	chr12:108889827 - 108889827(1)	intron_variant; NMD_transcript_variant	3(0/3/0)
rs2111902	chr12:108884971 - 108884971(1)	downstream_gene_variant; intron_variant; NMD_transcript_variant	2(0/2/0)
rs3918347	chr12:108899544 - 108899544(1)	3_prime_UTR_variant; downstream_gene_variant; intron_variant; NMD_transcript_variant; non_coding_transcript_variant	1(0/1/0)

LD-proxies (count: 5)

rs_ID	Location	Functional Annotation
rs6539460	chr12:108890702 - 108890702(1)	intron_variant; NMD_transcript_variant
rs4964770	chr12:108901732 - 108901732(1)	downstream_gene_variant
rs11114084	chr12:108887919 - 108887919(1)	downstream_gene_variant; intron_variant; NMD_transcript_variant
rs7967441	chr12:108887972 - 108887972(1)	downstream_gene_variant; intron_variant; NMD_transcript_variant
rs11114089	chr12:108902275 - 108902275(1)	downstream_gene_variant

Gene related CNVs (count: 0)

Gene related other variants (count: 3)

Variant Name	Variant Type	No. of Studies (Positive/Negative/Trend)
DAO_MDAAO6	point mutation	1 (0/1/0)
DAO_MDAAO4	point mutation	1 (0/1/0)
DAO_MDAAO5	point mutation	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

Overlap with SZ from cross-disorder studies (count: 3)

Reference	Description	Result Category
14966479	DAAO was associated with schizophrenia, but not with BPAD.	Positive
21421061	Our findings suggest that the effects of DAAO genotype differ between patients with schizophrenia and healthy volunteers.	Positive
16380905	This gene is highly suggestive to BP , not suggestive to SZ/SZA.	Negative

Overlap with SZ from candidate gene intersection analysis (count: 15)

Reference	ID in SZGene	Result Category
12364586	131	Positive
17055463	131	Positive
17627036	131	Negative
19223009	131	Positive
17492767	131	Positive
15953485	131	Negative
20145586	131	Trend
15464270	131	Positive
19586533	131	Negative
16380905	131	Negative
20178891	131	Negative
16842973	131	Negative
19439994	131	Negative
17408693	131	Negative
20483168	131	Positive

Gene relationship with MDD

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Region: chr12:108858932..108901043 View in gBrowse