Gene Report

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Basic Info

Approved Symbol	MACROD2
Previous Symbol	C20orf133
Symbol Alias	dJ631M13.5
Approved Name	MACRO domain containing 2
Previous Name	chromosome 20 open reading frame 133
Location	20p12.1
Position	chr20:13995369-16053197, 1
External Links	HGNC: 16126 Entrez Gene: 140733 Ensembl: ENSG00000172264 UCSC: uc002wot.3
No. of Studies	2 (Positive: 0; Negative: 1; trend: 1)
Overlap with SZ?	NO
Overlap with MDD?	NO

Gene related studies (count: 2)

Reference	Tested Markers	Statistical Values/Author Comments	Result Category	Comment on Study
Georgieva, L., 2014		A de novo CNV in this gene was detected in BD.	Trend	Comment on Study
Chen, D. T.,2011	SNP: rs6079468	No significant association was observed.	Negative	Comment on Study

Gene functional annotation

Gene related GO terms (count: 7)

ID	Name	Type	Evidence[PMID]	No. of Genes in BDgene
GO:0007420	brain development	biological process	IEA	25
GO:0005634	nucleus	cellular component	IDA[23474712]	283

ID	Name	Type	Evidence[PMID]	No. of Genes in BDgene
GO:0019213	deacetylase activity	molecular function	IDA[21257746]	3
GO:0051725	protein de-ADP-ribosylation	biological process	IDA[23474712]	1
GO:0006974	cellular response to DNA damage stimulus	biological process	IMP[23474712]	14
GO:0016798	hydrolase activity, acting on glycosyl bonds	molecular function	IDA[23474712]	1
GO:0042278	purine nucleoside metabolic process	biological process	IDA[21257746]	1

Gene related KEGG pathways (count: 0)

Gene related BioCarta pathways (count: 0)

Gene related interactors from protein-protein interactions data in HPRD (count: 0)

Related other genetic factors

Gene related SNPs (count: 2)

rs_ID	Location	Functional Annotation	No. of Studies (Positive/Negative/Trend)
rs6079468	chr20:14517750 - 14517750(1)	intron_variant; non_coding_transcript_variant	1(0/1/0)
rs6079501	chr20:14589296 - 14589296(1)	intron_variant; non_coding_transcript_variant	1(0/1/0)

Gene related CNVs (count: 1)

ID	Location	Size	Band	Type	Inheritance
CNV_Lyudmila Georgieva[2014]_14	chr20:14771194-14853050 (UCSC build 37, hg19)	81856	20p12.1	deletion

Gene related other variants (count: 0)

Gene related regions (count: 4)

Region Name	Position	No. of Studies (Positive/Negative/Trend)
20p12	chr20:5100000-17900000	4 (0/0/4)
Chr 20	chr20:0-64444167	4 (0/3/1)
20p12.1	chr20:12000000-17900000	1 (0/0/1)
20p12.2-12.1	chr20:9200000-17900000	1 (0/1/0)

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

Gene relationship with SZ

Gene relationship with MDD

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Region: chr20:13995369..16053197 View in gBrowse