Gene Report

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Basic Info

Approved Symbol	DGCR8
Previous Symbol	C22orf12
Symbol Alias	DGCRK6, Gy1, pasha
Approved Name	DGCR8 microprocessor complex subunit
Previous Name	chromosome 22 open reading frame 12, "DiGeorge syndrome critical region gene 8"
Location	22q11.2
Position	chr22:20080232-20111877, 1
External Links	HGNC: 2847 Entrez Gene: 54487 Ensembl: ENSG00000128191 UCSC: uc002zri.3
No. of Studies	2 (Positive: 1; Negative: 0; trend: 1)
Overlap with SZ?	YES
Overlap with MDD?	NO

Gene related studies (count: 2)

Reference	Tested Markers	Statistical Values/Author Comments	Result Category	Comment on Study
Fallin, M. D.,2005		3 SNP typed, Median D'=0.94, Median r<sup>2</sup> =0.12, 1 LD blocks, 0.89 block coverage, there exists SNP or haplotype nominal P-value > 0.01 and <0.05 in BP.. This gene is suggestive to BP , not suggestive to SZ/SZA.	Trend	Comment on Study
Yosifova, A.,2009	SNP: rs2073778	Significant association of SNP in this gene with BD in our population was observed.	Positive	Comment on Study

Gene functional annotation

Gene related GO terms (count: 18)

ID	Name	Type	Evidence[PMID]	No. of Genes in BDgene
GO:0005634	nucleus	cellular component	IDA[15574589]	283

ID	Name	Type	Evidence[PMID]	No. of Genes in BDgene
GO:0010467	gene expression	biological process	TAS	41
GO:0042803	protein homodimerization activity	molecular function	IDA[15574589]	71
GO:0090501	RNA phosphodiester bond hydrolysis	biological process	IDA[15574589]	1
GO:0070877	microprocessor complex	cellular component	IDA[15574589]	1
GO:0072091	regulation of stem cell proliferation	biological process	IEA	1
GO:0005515	protein binding	molecular function	IPI[15574589]	563
GO:0003725	double-stranded RNA binding	molecular function	IDA[17704815]	9
GO:0005730	nucleolus	cellular component	IEA	28
GO:0031053	primary miRNA processing	biological process	IDA[15531877]	1
GO:0046872	metal ion binding	molecular function	IEA	115
GO:0090502	RNA phosphodiester bond hydrolysis, endonucleolytic	biological process	IDA[15574589]	3
GO:0005654	nucleoplasm	cellular component	IDA; TAS	163
GO:0020037	heme binding	molecular function	IDA[24449907]	6
GO:0004525	ribonuclease III activity	molecular function	IDA[15574589]	1
GO:0070878	primary miRNA binding	molecular function	IDA[24910438]	1
GO:0005737	cytoplasm	cellular component	IDA	322
GO:0015630	microtubule cytoskeleton	cellular component	IDA	12

Gene related KEGG pathways (count: 0)

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
DGCR8	RNASEN	NO	in vitro	15574589

Related other genetic factors

Gene related SNPs (count: 5)

rs_ID	Location	Functional Annotation	No. of Studies (Positive/Negative/Trend)
rs2073778	chr22:20087052 - 20087052(1)	downstream_gene_variant; intron_variant; non_coding_transcript_exon_variant; non_coding_transcript_variant	1(1/0/0)

rs_ID	Location	Functional Annotation
rs720012	chr22:20111059 - 20111059(1)	3_prime_UTR_variant; downstream_gene_variant; non_coding_transcript_exon_variant; non_coding_transcript_variant; upstream_gene_variant
rs885980	chr22:20114567 - 20114567(1)	downstream_gene_variant; intron_variant; non_coding_transcript_variant; splice_region_variant; upstream_gene_variant
rs2073777	chr22:20115227 - 20115227(1)	downstream_gene_variant; intron_variant; non_coding_transcript_exon_variant; non_coding_transcript_variant; upstream_gene_variant
rs11089328	chr22:20092080 - 20092080(1)	intron_variant; non_coding_transcript_variant; upstream_gene_variant

Gene related CNVs (count: 1)

ID	Location	Size	Band	Type	Inheritance
CNV_Zhang[2009]_306	chr22:17386126-18691917 (Affymetrix SNP 6.0 array reference genome)	1305791		Singleton deletions

Gene related other variants (count: 0)

Gene related regions (count: 3)

Region Name	Position	No. of Studies (Positive/Negative/Trend)
22q11	chr22:15000000-25500000	1 (0/1/0)
22q11.2	chr22:17400000-25500000	2 (0/2/0)
Chr 22	chr22:0-50818468	2 (0/1/1)

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

Gene relationship with SZ

Reference	Description	Result Category
16380905	This gene is suggestive to BP , not suggestive to SZ/SZA.	Negative

Reference	ID in SZGene	Result Category
16380905	426	Negative
12477929	426	Negative

Gene relationship with MDD

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Region: chr22:20080232..20111877 View in gBrowse