Gene Report

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Basic Info

Approved Symbol	GNL3
Symbol Alias	C77032, E2IG3, MGC800, NS
Approved Name	guanine nucleotide binding protein-like 3 (nucleolar)
Name Alias	nucleostemin
Location	3p21.1
Position	chr3:52681156-52694492, 1
External Links	HGNC: 29931 Entrez Gene: 26354 Ensembl: ENSG00000163938 UCSC: uc003dfd.3
No. of Studies	2 (Positive: 2; Negative: 0; trend: 0)
Overlap with SZ?	YES
Overlap with MDD?	YES

Gene related studies (count: 2)

Reference	Tested Markers	Statistical Values/Author Comments	Result Category	Comment on Study
McMahon, F. J., 2010	SNP: rs2289247	A nonsynonymous variant rs2289247 in the gene GNL3 was significant in MDD and there was strong linkage disequilibrium (LD) between rs2251219 and rs2289247.	Positive	Comment on Study
Moskvina, V.,2009		In BD:Smallest P-value per gene=0.00792, Product of P truncation <=0.01=0.00797, Product of P truncation <=0.001=NA. It showed evidence for association with BD.	Positive	Comment on Study

Gene functional annotation

Gene related GO terms (count: 14)

ID	Name	Type	Evidence[PMID]	No. of Genes in BDgene
GO:0005634	nucleus	cellular component	ISS	283
GO:0016020	membrane	cellular component	IDA[19946888]	137

ID	Name	Type	Evidence[PMID]	No. of Genes in BDgene
GO:0008283	cell proliferation	biological process	IEA	37
GO:0008152	metabolic process	biological process	IBA	50
GO:0005615	extracellular space	cellular component	IDA[22664934]	85
GO:1902895	positive regulation of pri-miRNA transcription from RNA polymerase II promoter	biological process	IMP[25569094]	1
GO:0005515	protein binding	molecular function	IPI[16097049]	563
GO:0042127	regulation of cell proliferation	biological process	ISS	14
GO:0005730	nucleolus	cellular component	IBA; ISS	28
GO:0042254	ribosome biogenesis	biological process	IBA	3
GO:0005525	GTP binding	molecular function	ISS	20
GO:0005654	nucleoplasm	cellular component	IEA	163
GO:0044822	poly(A) RNA binding	molecular function	IDA[22658674]	44
GO:0003924	GTPase activity	molecular function	IBA	14

Gene related KEGG pathways (count: 0)

Gene related BioCarta pathways (count: 0)

Gene related interactors from protein-protein interactions data in HPRD (count: 3)

Gene	Interactor	Interactor in BDgene?	Experiment Type	PMID
GNL3	PPP2R5A	NO	in vivo;yeast 2-hybrid	16097049
GNL3	TP53	NO	in vitro;in vivo	12464630
GNL3	ASCC2	NO	yeast 2-hybrid	16169070

Related other genetic factors

Gene related SNPs (count: 13)

rs_ID	Location	Functional Annotation	No. of Studies (Positive/Negative/Trend)
rs2289247	chr3:52693241 - 52693241(1)	downstream_gene_variant; missense_variant; non_coding_transcript_exon_variant; non_coding_transcript_variant	1(1/0/0)
rs10865974	chr3:52684264 - 52684264(1)	intron_variant; upstream_gene_variant	1(0/0/1)
rs11130317	chr3:52697467 - 52697467(1)	downstream_gene_variant; intron_variant; non_coding_transcript_variant; upstream_gene_variant	1(1/0/0)

rs_ID	Location	Functional Annotation
rs6976	chr3:52694788 - 52694788(1)	3_prime_UTR_variant; downstream_gene_variant; NMD_transcript_variant
rs3733041	chr3:52697582 - 52697582(1)	downstream_gene_variant; intron_variant; non_coding_transcript_variant; upstream_gene_variant
rs1108842	chr3:52686064 - 52686064(1)	5_prime_UTR_variant; intron_variant; NMD_transcript_variant; non_coding_transcript_exon_variant; non_coding_transcript_variant; upstream_gene_variant
rs3733039	chr3:52685072 - 52685072(1)	intron_variant; upstream_gene_variant
rs1866268	chr3:52685382 - 52685382(1)	intron_variant; upstream_gene_variant
rs2164885	chr3:52697253 - 52697253(1)	downstream_gene_variant; intron_variant; non_coding_transcript_variant; upstream_gene_variant
rs11177	chr3:52687289 - 52687289(1)	downstream_gene_variant; missense_variant; NMD_transcript_variant; non_coding_transcript_exon_variant; non_coding_transcript_variant; upstream_gene_variant
rs6762813	chr3:52692679 - 52692679(1)	downstream_gene_variant; intron_variant; non_coding_transcript_variant; upstream_gene_variant
rs10865973	chr3:52684138 - 52684138(1)	intron_variant; upstream_gene_variant
rs2336542	chr3:52676620 - 52676620(1)	downstream_gene_variant; intron_variant; NMD_transcript_variant; upstream_gene_variant

Gene related CNVs (count: 0)

Gene related other variants (count: 0)

Gene related regions (count: 2)

Region Name	Position	No. of Studies (Positive/Negative/Trend)
Chr 3	chr3:0-198295559	2 (0/2/0)
3p21	chr3:43600000-54400000	1 (0/0/1)

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

Gene relationship with SZ

Reference	Description	Result Category
19065143	In SZ:Smallest P-value per gene=0.00812, Product of P truncation <=0.01=0.00819, Product of P truncation <=0.001=NA It showed evidence for association with SZ.	Positive

Gene relationship with MDD

Reference	Description	Category in MDD
20081856	A nonsynonymous variant in the gene GNL3 was significant in MDD.	Positive

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Region: chr3:52681156..52694492 View in gBrowse