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	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	CALM1	NO	in vitro;in vivo	16258073 , 10075700
ADCY8	PPP2CA	NO	in vitro;yeast 2-hybrid	16258073

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

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Region: chr8:130780301..131042426 View in gBrowse