Gene Report

Basic information

Related studies

Functional annotation

Related other genetic factors

Overlap with SZ and MDD

ADD to My Gene Set

Comment on Gene

View All Comments on Gene

Basic Info

Approved Symbol	ADCY8
Previous Symbol	ADCY3
Symbol Alias	HBAC1, AC8
Approved Name	adenylate cyclase 8 (brain)
Location	8q24
Position	chr8:130780301-131042426, -1
External Links	HGNC: 239 Entrez Gene: 114 Ensembl: ENSG00000155897 UCSC: uc003ytd.4
No. of Studies	4 (Positive: 2; Negative: 1; trend: 1)
Overlap with SZ?	NO
Overlap with MDD?	YES

Gene related studies (count: 4)

Reference	Tested Markers	Statistical Values/Author Comments	Result Category	Comment on Study
Zhang, P.,2010	SNP: rs1023096, rs3750889	Our association results showed suggestive evidence of association of BP with loci near ADCY8.	Trend	Comment on Study
de Mooij-van Malsen, A. J.,2009		After this correction the association between the ADCY8(rs3914071) and BPD remained significant (P-value = 0.0055; genetic model, without sex-stratification).	Positive	Comment on Study
Zandi, P. P., 2008 (b)	SNP: rs1411187, rs3750889 Haplotype: rs1411187 - rs6986303()	None of the SNPs were associated with BP in the single-locus tests at a level that exceeded our threshold for study-wide significance (P<3.00E-05). However, there was consistent evidence at our threshold for the suggestive level (P<7.00E-04) from both the single locus and multi-locus tests of associations with SNPs in the genes ADCY8, ST3GAL1, and NSE2.	Positive	Comment on Study
McDonald, M. L.,2012	SNP: rs2228950	None of the association tests of the tagSNPs with either BPD I or BPD II reached genome-wide significance (P < 5E-08).	Negative	Comment on Study

Gene functional annotation

Gene related GO terms (count: 27)

GO terms by PBA (count: 5)

ID	Name	Type	Evidence[PMID]	No. of Genes in BDgene
GO:0016021	integral component of membrane	cellular component	IEA	219
GO:0007268	synaptic transmission	biological process	TAS	116
GO:0005886	plasma membrane	cellular component	TAS	360
GO:0016020	membrane	cellular component	TAS[8163524]	137
GO:0045087	innate immune response	biological process	TAS	49

GO terms by database search (count: 22)

ID	Name	Type	Evidence[PMID]	No. of Genes in BDgene
GO:0006112	energy reserve metabolic process	biological process	TAS	19
GO:0046872	metal ion binding	molecular function	IEA	115
GO:0055085	transmembrane transport	biological process	TAS	77
GO:0007189	adenylate cyclase-activating G-protein coupled receptor signaling pathway	biological process	TAS	11
GO:0008543	fibroblast growth factor receptor signaling pathway	biological process	TAS	21
GO:0007616	long-term memory	biological process	IEA	9
GO:0006171	cAMP biosynthetic process	biological process	IEA	6
GO:0005524	ATP binding	molecular function	IEA	118
GO:0008294	calcium- and calmodulin-responsive adenylate cyclase activity	molecular function	TAS[8163524]	2
GO:0004016	adenylate cyclase activity	molecular function	TAS[8076676]	4
GO:0048011	neurotrophin TRK receptor signaling pathway	biological process	TAS	33
GO:0007611	learning or memory	biological process	TAS[8076676]	13
GO:0007193	adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway	biological process	TAS	10
GO:0007165	signal transduction	biological process	TAS	136
GO:0034199	activation of protein kinase A activity	biological process	TAS	5
GO:0003091	renal water homeostasis	biological process	TAS	9
GO:0007202	activation of phospholipase C activity	biological process	TAS	15
GO:0044281	small molecule metabolic process	biological process	TAS	117
GO:0006833	water transport	biological process	TAS	9
GO:0035556	intracellular signal transduction	biological process	IEA	38
GO:0007173	epidermal growth factor receptor signaling pathway	biological process	TAS	22
GO:0071377	cellular response to glucagon stimulus	biological process	TAS	7

Gene related KEGG pathways (count: 7)

KEGG pathways by PBA (count: 4)

ID	Name	No. of Genes in BDgene
hsa04540	Gap junction	15
hsa04720	Long-term potentiation	13
hsa04020	Calcium signaling pathway	53
hsa00230	Purine metabolism	12

KEGG pathways by database search (count: 3)

ID	Name	No. of Genes in BDgene
hsa04742	Taste transduction	7
hsa04916	Melanogenesis	16
hsa04912	GnRH signaling pathway	17

Gene related BioCarta pathways (count: 0)

Gene related interactors from protein-protein interactions data in HPRD (count: 2)

Gene	Interactor	Interactor in BDgene?	Experiment Type	PMID
ADCY8	PPP2CA	NO	in vitro;yeast 2-hybrid	16258073
ADCY8	CALM1	NO	in vitro;in vivo	16258073 , 10075700

Related other genetic factors

Gene related SNPs (count: 38)

Literature-origin SNPs (count: 4)

rs_ID	Location	Functional Annotation	No. of Studies (Positive/Negative/Trend)
rs3750889	chr8:130990088 - 130990088(1)	intron_variant	2(1/0/1)
rs1023096	chr8:131023316 - 131023316(1)	intron_variant	1(0/0/1)
rs1411187	chr8:131009717 - 131009717(1)	intron_variant	1(1/0/0)
rs2228950	chr8:130990524 - 130990524(1)	5_prime_UTR_variant; synonymous_variant	1(0/1/0)

LD-proxies (count: 34)

rs_ID	Location	Functional Annotation
rs6415528	chr8:130974978 - 130974978(1)	intron_variant
rs6470879	chr8:131000624 - 131000624(1)	intron_variant
rs7007726	chr8:131001687 - 131001687(1)	intron_variant
rs12678691	chr8:130998094 - 130998094(1)	intron_variant
rs1329804	chr8:130998875 - 130998875(1)	intron_variant
rs1329803	chr8:130990330 - 130990330(1)	intron_variant
rs6470877	chr8:130995210 - 130995210(1)	intron_variant; upstream_gene_variant
rs4376482	chr8:131013081 - 131013081(1)	intron_variant
rs885380	chr8:131011332 - 131011332(1)	intron_variant
rs913819	chr8:131032693 - 131032693(1)	intron_variant
rs928138	chr8:131015193 - 131015193(1)	intron_variant
rs6470883	chr8:131014938 - 131014938(1)	intron_variant
rs7840086	chr8:131014738 - 131014738(1)	intron_variant
rs7835943	chr8:131014074 - 131014074(1)	intron_variant
rs1329798	chr8:131038361 - 131038361(1)	intron_variant
rs1556163	chr8:131026020 - 131026020(1)	intron_variant
rs928137	chr8:131015405 - 131015405(1)	intron_variant
rs932904	chr8:131015382 - 131015382(1)	intron_variant
rs4403388	chr8:131008651 - 131008651(1)	intron_variant
rs4388440	chr8:131009047 - 131009047(1)	intron_variant
rs7841164	chr8:131008139 - 131008139(1)	intron_variant
rs4407864	chr8:131008219 - 131008219(1)	intron_variant
rs4736732	chr8:131012406 - 131012406(1)	intron_variant
rs4736733	chr8:131012407 - 131012407(1)	intron_variant
rs1028945	chr8:131009855 - 131009855(1)	intron_variant
rs1023095	chr8:131010711 - 131010711(1)	intron_variant
rs1411180	chr8:131004440 - 131004440(1)	intron_variant
rs1411182	chr8:131004719 - 131004719(1)	intron_variant
rs884102	chr8:131002685 - 131002685(1)	intron_variant
rs1411179	chr8:131003765 - 131003765(1)	intron_variant
rs4736731	chr8:131007395 - 131007395(1)	intron_variant
rs1888082	chr8:131007838 - 131007838(1)	intron_variant
rs1411186	chr8:131005482 - 131005482(1)	intron_variant
rs959204	chr8:131006858 - 131006858(1)	intron_variant

Gene related CNVs (count: 0)

Gene related other variants (count: 0)

Gene related regions (count: 4)

Region Name	Position	No. of Studies (Positive/Negative/Trend)
8q24.13-q24.3	chr8:121500000-145138636	1 (1/0/0)
8q24.21-qter	chr8:126300000-145138636	1 (0/1/0)
Chr 8	chr8:0-145138636	3 (0/3/0)
8q24	chr8:116700000-145138636	7 (2/2/3)

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

Gene relationship with SZ

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
17353912	Selected differentially expressed genes in hippocampus	Pos	ADCY8

View in gBrowse

Region: chr8:130780301..131042426 View in gBrowse