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	GNAL
Approved Name	guanine nucleotide binding protein (G protein), alpha activating activity polypeptide, olfactory type
Location	18p11.22-p11.21
Position	chr18:11688956-11885685, 1
External Links	HGNC: 4388 Entrez Gene: 2774 Ensembl: ENSG00000141404 UCSC: uc002kqc.3
No. of Studies	2 (Positive: 0; Negative: 2; 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
Yosifova, A.,2009	SNP: rs1786568, rs1786569, rs1895689, rs602201	No SNP of this gene had significant association with BD in our population.	Negative	Comment on Study
Zill, P.,2003	Other variant: GNAL_intron10_T/G, GNAL_intron3_A/G	In conclusion, our findings that genetic variants in the GNAL gene do not play a causal role in the etiology of bipolar disorder.	Negative	Comment on Study

Gene functional annotation

Gene related GO terms (count: 19)

GO terms by PBA (count: 3)

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:0007268	synaptic transmission	biological process	TAS	116

GO terms by database search (count: 16)

ID	Name	Type	Evidence[PMID]	No. of Genes in BDgene
GO:0007608	sensory perception of smell	biological process	IBA	8
GO:0070062	extracellular vesicular exosome	cellular component	IDA[23533145]	176
GO:0001664	G-protein coupled receptor binding	molecular function	IBA	9
GO:0008152	metabolic process	biological process	IBA; IEA; TAS[8243272]	50
GO:0007191	adenylate cyclase-activating dopamine receptor signaling pathway	biological process	IBA	5
GO:0031683	G-protein beta/gamma-subunit complex binding	molecular function	IBA	6
GO:0005834	heterotrimeric G-protein complex	cellular component	IBA	6
GO:0007190	activation of adenylate cyclase activity	biological process	IEA	12
GO:0003924	GTPase activity	molecular function	IBA	14
GO:0031000	response to caffeine	biological process	IEA	3
GO:0046872	metal ion binding	molecular function	IEA	115
GO:0001975	response to amphetamine	biological process	IEA	19
GO:0007193	adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway	biological process	TAS	10
GO:0007189	adenylate cyclase-activating G-protein coupled receptor signaling pathway	biological process	TAS	11
GO:0007165	signal transduction	biological process	TAS[8243272]	136
GO:0005525	GTP binding	molecular function	IEA	20

Gene related KEGG pathways (count: 2)

KEGG pathways by PBA (count: 1)

ID	Name	No. of Genes in BDgene	Brief Description
hsa04020	Calcium signaling pathway	53

KEGG pathways by database search (count: 1)

ID	Name	No. of Genes in BDgene	Brief Description
hsa04740	Olfactory transduction	11

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: 31)

Literature-origin SNPs (count: 8)

rs_ID	Location	Functional Annotation	No. of Studies (Positive/Negative/Trend)
rs593713	chr18:11887658 - 11887658(1)	downstream_gene_variant; intron_variant; NMD_transcript_variant; non_coding_transcript_variant; upstream_gene_variant	1(0/1/0)
rs1786581	chr18:11852183 - 11852183(1)	3_prime_UTR_variant; downstream_gene_variant; intron_variant; non_coding_transcript_variant; upstream_gene_variant	2(0/2/0)
rs602201	chr18:11882269 - 11882269(1)	3_prime_UTR_variant; downstream_gene_variant	2(0/2/0)
rs1249624	chr18:11855801 - 11855801(1)	downstream_gene_variant; intron_variant; upstream_gene_variant	1(0/1/0)
rs662515	chr18:11886564 - 11886564(1)	downstream_gene_variant; intron_variant; missense_variant; NMD_transcript_variant; non_coding_transcript_exon_variant; non_coding_transcript_variant; upstream_gene_variant	1(0/1/0)
rs1895689	chr18:11752944 - 11752944(1)	intron_variant; non_coding_transcript_variant; upstream_gene_variant	1(0/1/0)
rs1786569	chr18:11846089 - 11846089(1)	intron_variant	1(0/1/0)
rs1786568	chr18:11821001 - 11821001(1)	intron_variant; non_coding_transcript_variant	1(0/1/0)

LD-proxies (count: 23)

rs_ID	Location	Functional Annotation
rs689057	chr18:11887885 - 11887885(1)	downstream_gene_variant; intron_variant; NMD_transcript_variant; non_coding_transcript_variant; upstream_gene_variant
rs605961	chr18:11888096 - 11888096(1)	downstream_gene_variant; intron_variant; NMD_transcript_variant; non_coding_transcript_variant; upstream_gene_variant
rs1249630	chr18:11837557 - 11837557(1)	downstream_gene_variant; intron_variant
rs1786573	chr18:11831762 - 11831762(1)	intron_variant; non_coding_transcript_variant
rs9966733	chr18:11828829 - 11828829(1)	intron_variant; non_coding_transcript_variant
rs4625786	chr18:11730980 - 11730980(1)	intron_variant
rs9962908	chr18:11827240 - 11827240(1)	intron_variant; non_coding_transcript_variant
rs7359728	chr18:11746606 - 11746606(1)	intron_variant; non_coding_transcript_variant; upstream_gene_variant
rs1786566	chr18:11824359 - 11824359(1)	intron_variant; non_coding_transcript_variant
rs1614379	chr18:11824183 - 11824183(1)	intron_variant; non_coding_transcript_variant
rs1786567	chr18:11823883 - 11823883(1)	intron_variant; non_coding_transcript_variant
rs9962623	chr18:11827103 - 11827103(1)	intron_variant; non_coding_transcript_variant
rs1647558	chr18:11825318 - 11825318(1)	intron_variant; non_coding_transcript_variant
rs1786564	chr18:11825213 - 11825213(1)	intron_variant; non_coding_transcript_variant
rs1647556	chr18:11824881 - 11824881(1)	intron_variant; non_coding_transcript_variant
rs9303746	chr18:11777421 - 11777421(1)	intron_variant; non_coding_transcript_variant
rs12327266	chr18:11783305 - 11783305(1)	intron_variant; non_coding_transcript_variant
rs8098539	chr18:11775387 - 11775387(1)	intron_variant; non_coding_transcript_variant
rs8086766	chr18:11785175 - 11785175(1)	intron_variant; non_coding_transcript_variant
rs16976632	chr18:11748526 - 11748526(1)	downstream_gene_variant; intron_variant; upstream_gene_variant
rs9951752	chr18:11748217 - 11748217(1)	downstream_gene_variant; intron_variant; upstream_gene_variant
rs2866279	chr18:11757401 - 11757401(1)	intron_variant; non_coding_transcript_variant
rs8095592	chr18:11753717 - 11753717(1)	intron_variant; non_coding_transcript_variant

Gene related CNVs (count: 0)

Gene related other variants (count: 2)

Variant Name	Variant Type	Location in Gene	No. of Studies (Positive/Negative/Trend)
GNAL_intron10_T/G	point mutation	intron10	1 (0/1/0)
GNAL_intron3_A/G	point mutation	intron 3	1 (0/1/0)

Gene related regions (count: 5)

Region Name	Position	No. of Studies (Positive/Negative/Trend)
18p11-q12.3	chr18:0-45900000	1 (0/0/1)
18pter-p11	chr18:0-18500000	1 (0/1/0)
Chr 18	chr18:0-80373285	1 (1/0/0)
18p11	chr18:0-18500000	6 (1/2/3)
18p	chr18:0-18500000	1 (0/1/0)

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
9758604	157	Positive

Gene relationship with MDD

Overlap with MDD from cross-disorder studies (count: 0)

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

Reference	Description	Category in MDD	Link in MK4MDD
11901355	In the control group, we found a significant increase in the G-allele frequency of the intron 3 polymorphism in females (P=0.0036, odds ratio=2.13, 95% confidence interval=1.29-3.54, Fisher's Exact Test). In patients, we found a similar tendency for higher G-allele frequencies in females. Concerning the intron 10 polymorphism, no differences in the genotype or allele frequencies were detectable for any of the separated gender groups. Also, the total patient and control groups showed no differences in allele or genotype frequencies for any of the investigated polymorphisms.	Neg	GNAL

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Region: chr18:11688956..11885685 View in gBrowse