ADHDgene Database

Gene Report

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	chr20:13976015-16033842, +
External Links	HGNC: 16126 Entrez Gene: 140733 Ensembl: ENSG00000172264 UCSC: uc002wot.2
No. of Studies	1 (significant: 0; non-significant: 0; trend: 1)
Source	Literature-origin; Mapped by CNV

Gene related studies (count: 1)

Reference	Statistical Values/Author Comments	Result of Statistical Analysis
Lionel, A. C., 2011	A 109kb de novo exonic deletion was detected in a male ADHD proband (113400.3) overlapping MACROD2 at 20p12.1.	Trend

Gene related SNPs (count: 0)

Gene related CNVs (count: 5)

ID	Location	Size	Band	Type	Inheritance
CNV_Lionel[2011]_4	chr20:0-0 (NCBI36 / hg18)	109	20p12.1	Loss	D
CNV_Elia[2010]_212	chr20:15021680-15044705 (NCBI Build 35 (hg17))	23026	20p12.1	Deletion (hemizygous)	Maternal
CNV_Lionel[2011]_18	chr20:0-0 (NCBI36 / hg18)	542	20p12.1	Loss	M
CNV_Williams[2010]_25	chr20:12795614-14242196 (NCBI Build 36.1 (hg18))	1394171	20p12.1	Gain
CNV_Elia[2010]_210	chr20:15011668-15051600 (NCBI Build 35 (hg17))	39933	20p12.1	Deletion (hemizygous)	Maternal

Gene related other variant (count: 0)

Gene related regions (count: 0)

Gene related GO terms (count: 4)

ID	Name	Type	No. of Genes in ADHDgene
GO:0005575	cellular_component	Cellular Component	98
GO:0007420	brain development	Biological Process	33
GO:0042278	purine nucleoside metabolic process	Biological Process	2
GO:0019213	deacetylase activity	Molecular Function	3

Gene related KEGG pathways (count: 0)

Genes shared at least 5 GO terms with MACROD2 (count: 0)

Genes shared at least 2 KEGG pathways with MACROD2 (count: 0)

View in gBrowse

Region: chr20:13976015..16033842 View in gBrowse