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

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