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	GNB1L
Symbol Alias	GY2, WDR14
Approved Name	guanine nucleotide binding protein (G protein), beta polypeptide 1-like
Location	22q11.2
Position	chr22:19783224-19854939, -1
External Links	HGNC: 4397 Entrez Gene: 54584 Ensembl: ENSG00000185838 UCSC: uc002zqf.1
No. of Studies	1 (Positive: 1; Negative: 0; trend: 0)
Overlap with SZ?	YES
Overlap with MDD?	YES

Gene related studies (count: 1)

Reference	Tested Markers	Statistical Values/Author Comments	Result Category	Comment on Study
Li, Y.,2011	SNP: rs1468089, rs2269726, rs5746832, rs5748425, rs5748427, rs5748432, rs748806	Our findings suggests that GNB1L is linked with bipolar disorder and schizophrenia and not with major depressive disorder.	Positive	Comment on Study

Gene functional annotation

Gene related GO terms (count: 6)

GO terms by PBA (count: 0)

GO terms by database search (count: 6)

ID	Name	Type	Evidence[PMID]	No. of Genes in BDgene
GO:0009898	cytoplasmic side of plasma membrane	cellular component	NAS[11072084]	3
GO:0003674	molecular_function	molecular function	ND	24
GO:0007186	G-protein coupled receptor signaling pathway	biological process	NAS[11072084]	64
GO:0005737	cytoplasm	cellular component	IEA	322
GO:0035556	intracellular signal transduction	biological process	NAS[11072084]	38
GO:0035176	social behavior	biological process	IEA	17

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: 38)

Literature-origin SNPs (count: 8)

rs_ID	Location	Functional Annotation	No. of Studies (Positive/Negative/Trend)
rs2269726	chr22:19797483 - 19797483(1)	downstream_gene_variant; intron_variant; non_coding_transcript_variant	1(1/0/0)
rs5746832	chr22:19783667 - 19783667(1)	3_prime_UTR_variant; downstream_gene_variant	1(1/0/0)
rs5748427	chr22:19787764 - 19787764(1)	3_prime_UTR_variant; downstream_gene_variant; upstream_gene_variant	1(1/0/0)
rs5746826	chr22:19779528 - 19779528(1)	3_prime_UTR_variant; downstream_gene_variant; intron_variant	1(0/1/0)
rs1468089	chr22:19827521 - 19827521(1)	intron_variant; non_coding_transcript_variant	1(0/1/0)
rs5748425	chr22:19787520 - 19787520(1)	3_prime_UTR_variant; downstream_gene_variant; upstream_gene_variant	1(0/1/0)
rs748806	chr22:19800213 - 19800213(1)	downstream_gene_variant; intron_variant; non_coding_transcript_variant	1(1/0/0)
rs5748432	chr22:19795839 - 19795839(1)	downstream_gene_variant; intron_variant; non_coding_transcript_variant	1(1/0/0)

LD-proxies (count: 30)

rs_ID	Location	Functional Annotation
rs2073762	chr22:19784045 - 19784045(1)	3_prime_UTR_variant; downstream_gene_variant
rs880194	chr22:19797806 - 19797806(1)	downstream_gene_variant; intron_variant; non_coding_transcript_variant
rs3788301	chr22:19807668 - 19807668(1)	downstream_gene_variant; intron_variant; non_coding_transcript_variant
rs5993830	chr22:19785785 - 19785785(1)	3_prime_UTR_variant; downstream_gene_variant
rs9680547	chr22:19834136 - 19834136(1)	intron_variant; non_coding_transcript_variant
rs5748443	chr22:19804621 - 19804621(1)	intron_variant; non_coding_transcript_variant
rs6518584	chr22:19834296 - 19834296(1)	intron_variant; non_coding_transcript_variant
rs5746837	chr22:19817740 - 19817740(1)	intron_variant; non_coding_transcript_variant
rs10427769	chr22:19832054 - 19832054(1)	intron_variant; non_coding_transcript_variant
rs9618708	chr22:19832757 - 19832757(1)	intron_variant; non_coding_transcript_variant
rs12167717	chr22:19839117 - 19839117(1)	intron_variant; non_coding_transcript_variant
rs2871043	chr22:19794300 - 19794300(1)	downstream_gene_variant; intron_variant; non_coding_transcript_variant
rs13164	chr22:19846403 - 19846403(1)	3_prime_UTR_variant; intron_variant; non_coding_transcript_exon_variant; non_coding_transcript_variant
rs5748433	chr22:19797131 - 19797131(1)	downstream_gene_variant; intron_variant; non_coding_transcript_variant
rs7285519	chr22:19837629 - 19837629(1)	intron_variant; non_coding_transcript_variant
rs2904561	chr22:19799786 - 19799786(1)	downstream_gene_variant; intron_variant; non_coding_transcript_variant
rs7287254	chr22:19837700 - 19837700(1)	intron_variant; non_coding_transcript_variant
rs737859	chr22:19803758 - 19803758(1)	intron_variant; non_coding_transcript_variant
rs5746834	chr22:19791614 - 19791614(1)	intron_variant; non_coding_transcript_variant; upstream_gene_variant
rs7285337	chr22:19827191 - 19827191(1)	intron_variant; non_coding_transcript_variant
rs9306226	chr22:19829910 - 19829910(1)	intron_variant; non_coding_transcript_variant
rs12170942	chr22:19825203 - 19825203(1)	intron_variant; non_coding_transcript_variant
rs9618705	chr22:19826893 - 19826893(1)	intron_variant; non_coding_transcript_variant
rs2073770	chr22:19802018 - 19802018(1)	intron_variant; missense_variant; non_coding_transcript_exon_variant; non_coding_transcript_variant
rs12484377	chr22:19799974 - 19799974(1)	downstream_gene_variant; intron_variant; non_coding_transcript_variant
rs12485220	chr22:19802785 - 19802785(1)	intron_variant; non_coding_transcript_variant
rs11704083	chr22:19852890 - 19852890(1)	intron_variant; non_coding_transcript_variant
rs2269725	chr22:19797208 - 19797208(1)	downstream_gene_variant; intron_variant; non_coding_transcript_variant
rs3747066	chr22:19850052 - 19850052(1)	3_prime_UTR_variant; downstream_gene_variant; intron_variant; non_coding_transcript_variant
rs17209798	chr22:19796334 - 19796334(1)	downstream_gene_variant; intron_variant; non_coding_transcript_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

Overlap with SZ from cross-disorder studies (count: 1)

Reference	Description	Result Category
20538345	Our findings suggests that GNB1L is linked with bipolar disorder and schizophrenia and not with major depressive disorder.	Positive

Overlap with SZ from candidate gene intersection analysis (count: 4)

Reference	ID in SZGene	Result Category
18003636	431	Positive
12477929	431	Negative
19011233	431	Positive
20538345	431	Positive

Gene relationship with MDD

Overlap with MDD from cross-disorder studies (count: 1)

Reference	Description	Category in MDD
20538345	Our findings suggests that GNB1L is linked with bipolar disorder and schizophrenia and not with major depressive disorder.	Negative

Overlap with MDD from candidate gene intersection analysis (count: 0)

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Region: chr22:19783224..19854939 View in gBrowse