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	GNAZ
Approved Name	guanine nucleotide binding protein (G protein), alpha z polypeptide
Location	22q11.1-q11.2
Position	chr22:23070361-23125037, 1
External Links	HGNC: 4395 Entrez Gene: 2781 Ensembl: ENSG00000128266 UCSC: uc002zwu.1
No. of Studies	1 (Positive: 1; Negative: 0; trend: 0)
Overlap with SZ?	YES
Overlap with MDD?	NO

Gene related studies (count: 1)

Reference	Tested Markers	Statistical Values/Author Comments	Result Category	Comment on Study
Saito, T.,1999	Other variant: GNAZ_exon2_309C/T	These data continue to provide some support for a BPD susceptibility gene on 22q11, possibly in linkage disequilibrium with the GNAZ 309 polymorphism.	Positive	Comment on Study

Gene functional annotation

Gene related GO terms (count: 18)

GO terms by PBA (count: 2)

ID	Name	Type	Evidence[PMID]	No. of Genes in BDgene
GO:0005886	plasma membrane	cellular component	TAS	360
GO:0004871	signal transducer activity	molecular function	IBA	32

GO terms by database search (count: 16)

ID	Name	Type	Evidence[PMID]	No. of Genes in BDgene
GO:0007186	G-protein coupled receptor signaling pathway	biological process	TAS[3129724]	64
GO:0031683	G-protein beta/gamma-subunit complex binding	molecular function	IBA	6
GO:0035556	intracellular signal transduction	biological process	TAS[2456569]	38
GO:0005834	heterotrimeric G-protein complex	cellular component	IBA	6
GO:0005783	endoplasmic reticulum	cellular component	TAS[2117645]	49
GO:0070062	extracellular vesicular exosome	cellular component	IDA[23376485]	176
GO:0005829	cytosol	cellular component	IEA	223
GO:0003924	GTPase activity	molecular function	IBA	14
GO:0031821	G-protein coupled serotonin receptor binding	molecular function	IBA	1
GO:0005057	receptor signaling protein activity	molecular function	TAS[2456569]	7
GO:0007193	adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway	biological process	IEA	10
GO:0008152	metabolic process	biological process	IBA; IEA; TAS[2117645]	50
GO:0046872	metal ion binding	molecular function	IEA	115
GO:0007188	adenylate cyclase-modulating G-protein coupled receptor signaling pathway	biological process	IBA	10
GO:0005525	GTP binding	molecular function	IEA	20
GO:0005635	nuclear envelope	cellular component	TAS[2117645]	10

Gene related KEGG pathways (count: 1)

KEGG pathways by PBA (count: 1)

ID	Name	No. of Genes in BDgene	Brief Description
hsa04730	Long-term depression	15

KEGG pathways by database search (count: 0)

Gene related BioCarta pathways (count: 0)

Gene related interactors from protein-protein interactions data in HPRD (count: 14)

Gene	Interactor	Interactor in BDgene?	Experiment Type	PMID
GNAZ	DRD5	YES	in vitro;in vivo	9603210
GNAZ	EYA1	NO	in vitro;yeast 2-hybrid	11950062
GNAZ	RGS7	YES	in vitro	10092682
GNAZ	RAP1GAP	NO	in vitro;yeast 2-hybrid	10593970
GNAZ	NMT1	NO	in vitro	2153964
GNAZ	EYA2	NO	in vitro;in vivo;yeast 2-hybrid	10906137
GNAZ	NUCB1	NO	yeast 2-hybrid	9647645
GNAZ	DRD2	YES	in vitro	9166747
GNAZ	RGS20	NO	in vitro;in vivo	12414994 , 9748279 , 12379657 , 15488169
GNAZ	RGS19	NO	in vitro;yeast 2-hybrid	8986788
GNAZ	RGS10	NO	in vitro;in vivo	8774883
GNAZ	PRKCD	NO	in vivo	8429024 , 7559455 , 9166747
GNAZ	ADORA1	NO	in vitro	9166747
GNAZ	OPRD1	NO	in vitro	9166747

Related other genetic factors

Gene related SNPs (count: 37)

Literature-origin SNPs (count: 0)

LD-proxies (count: 37)

rs_ID	Location	Functional Annotation
rs2157710	chr22:23115299 - 23115299(1)	intron_variant
rs2267000	chr22:23113179 - 23113179(1)	intron_variant
rs4820537	chr22:23122623 - 23122623(1)	downstream_gene_variant; intron_variant; non_coding_transcript_exon_variant; non_coding_transcript_variant
rs2283803	chr22:23112694 - 23112694(1)	intron_variant
rs916583	chr22:23127080 - 23127080(1)	downstream_gene_variant; intron_variant
rs2266997	chr22:23102896 - 23102896(1)	intron_variant
rs916584	chr22:23127246 - 23127246(1)	downstream_gene_variant; intron_variant
rs2266998	chr22:23104199 - 23104199(1)	intron_variant
rs916585	chr22:23127251 - 23127251(1)	downstream_gene_variant; intron_variant
rs2330338	chr22:23107768 - 23107768(1)	intron_variant
rs5751587	chr22:23127903 - 23127903(1)	downstream_gene_variant; intron_variant
rs2266999	chr22:23109588 - 23109588(1)	intron_variant
rs6003518	chr22:23129346 - 23129346(1)	downstream_gene_variant; intron_variant
rs1805058	chr22:23096004 - 23096004(1)	downstream_gene_variant; intron_variant; synonymous_variant
rs874138	chr22:23097343 - 23097343(1)	downstream_gene_variant; intron_variant
rs2330336	chr22:23100729 - 23100729(1)	intron_variant
rs739362	chr22:23101880 - 23101880(1)	intron_variant
rs2283802	chr22:23112535 - 23112535(1)	intron_variant
rs4820536	chr22:23089160 - 23089160(1)	intron_variant; non_coding_transcript_variant
rs4822354	chr22:23089576 - 23089576(1)	intron_variant; non_coding_transcript_variant
rs5751579	chr22:23087037 - 23087037(1)	intron_variant; non_coding_transcript_variant
rs6519411	chr22:23088223 - 23088223(1)	intron_variant; non_coding_transcript_variant
rs2266995	chr22:23094237 - 23094237(1)	intron_variant; non_coding_transcript_variant
rs3810614	chr22:23095084 - 23095084(1)	intron_variant; non_coding_transcript_variant
rs6003502	chr22:23090047 - 23090047(1)	intron_variant; non_coding_transcript_variant
rs1858746	chr22:23091617 - 23091617(1)	intron_variant; non_coding_transcript_variant
rs3788348	chr22:23125759 - 23125759(1)	downstream_gene_variant; intron_variant
rs3788347	chr22:23125617 - 23125617(1)	downstream_gene_variant; intron_variant
rs1051875	chr22:23123844 - 23123844(1)	3_prime_UTR_variant; downstream_gene_variant; intron_variant
rs5759593	chr22:23122270 - 23122270(1)	downstream_gene_variant; intron_variant; upstream_gene_variant
rs885964	chr22:23118816 - 23118816(1)	intron_variant; upstream_gene_variant
rs5751578	chr22:23083736 - 23083736(1)	intron_variant; non_coding_transcript_variant
rs2267004	chr22:23117676 - 23117676(1)	intron_variant; upstream_gene_variant
rs1989777	chr22:23083744 - 23083744(1)	intron_variant; non_coding_transcript_variant
rs13054985	chr22:23116390 - 23116390(1)	intron_variant
rs3827315	chr22:23080704 - 23080704(1)	intron_variant; non_coding_transcript_variant
rs3788343	chr22:23081061 - 23081061(1)	intron_variant; non_coding_transcript_variant

Gene related CNVs (count: 0)

Gene related other variants (count: 1)

Variant Name	Variant Type	Location in Gene	No. of Studies (Positive/Negative/Trend)
GNAZ_exon2_309C/T	SNP	exon2	1 (1/0/0)

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: 0)

Overlap with SZ from candidate gene intersection analysis (count: 1)

Reference	ID in SZGene	Result Category
10402497	430	Negative

Gene relationship with MDD

View in gBrowse

Region: chr22:23070361..23125037 View in gBrowse