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	ADCY2
Symbol Alias	HBAC2, KIAA1060, AC2
Approved Name	adenylate cyclase 2 (brain)
Location	5p15.3
Position	chr5:7396208-7830081, 1
External Links	HGNC: 233 Entrez Gene: 108 Ensembl: ENSG00000078295 UCSC: uc003jdz.1
No. of Studies	2 (Positive: 1; Negative: 1; trend: 0)
Overlap with SZ?	NO
Overlap with MDD?	NO

Gene related studies (count: 2)

Reference	Tested Markers	Statistical Values/Author Comments	Result Category	Comment on Study
Xu, W., 2014	SNP: rs12186377, rs12189243, rs2973331, rs4289537, rs6878196	A number of genes with no previous association to BD have multiple SNPs with suggestive association, including the brain-expressed gene ADCY2.	Negative	Comment on Study
Muhleisen, T. W., 2014	SNP: rs17826816	As the third most significant finding in our study	Positive	Comment on Study

Gene functional annotation

Gene related GO terms (count: 34)

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:0005886	plasma membrane	cellular component	IDA[11549699]; TAS	360
GO:0045087	innate immune response	biological process	TAS	49
GO:0007268	synaptic transmission	biological process	TAS	116
GO:0016020	membrane	cellular component	ISS	137

GO terms by database search (count: 29)

ID	Name	Type	Evidence[PMID]	No. of Genes in BDgene
GO:0055085	transmembrane transport	biological process	TAS	77
GO:0034199	activation of protein kinase A activity	biological process	TAS	5
GO:0005524	ATP binding	molecular function	IEA	118
GO:0003091	renal water homeostasis	biological process	TAS	9
GO:0006171	cAMP biosynthetic process	biological process	ISS	6
GO:0007173	epidermal growth factor receptor signaling pathway	biological process	TAS	22
GO:0005622	intracellular	cellular component	ISS	17
GO:0007188	adenylate cyclase-modulating G-protein coupled receptor signaling pathway	biological process	ISS	10
GO:0007202	activation of phospholipase C activity	biological process	TAS	15
GO:0046872	metal ion binding	molecular function	IEA	115
GO:0007189	adenylate cyclase-activating G-protein coupled receptor signaling pathway	biological process	TAS	11
GO:0008179	adenylate cyclase binding	molecular function	ISS	2
GO:0045121	membrane raft	cellular component	ISS	22
GO:0004016	adenylate cyclase activity	molecular function	ISS; NAS[1427768]	4
GO:0030425	dendrite	cellular component	ISS	65
GO:0008543	fibroblast growth factor receptor signaling pathway	biological process	TAS	21
GO:0035556	intracellular signal transduction	biological process	IEA	38
GO:0006112	energy reserve metabolic process	biological process	TAS	19
GO:0006833	water transport	biological process	TAS	9
GO:0046982	protein heterodimerization activity	molecular function	ISS	42
GO:0044281	small molecule metabolic process	biological process	TAS	117
GO:0048011	neurotrophin TRK receptor signaling pathway	biological process	TAS	33
GO:0005737	cytoplasm	cellular component	IDA[11549699]	322
GO:0007193	adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway	biological process	TAS	10
GO:0071377	cellular response to glucagon stimulus	biological process	TAS	7
GO:0031683	G-protein beta/gamma-subunit complex binding	molecular function	IEA	6
GO:0007165	signal transduction	biological process	TAS	136
GO:0043234	protein complex	cellular component	IEA	27
GO:0008294	calcium- and calmodulin-responsive adenylate cyclase activity	molecular function	IEA	2

Gene related KEGG pathways (count: 5)

KEGG pathways by PBA (count: 3)

ID	Name	No. of Genes in BDgene
hsa04540	Gap junction	15
hsa04020	Calcium signaling pathway	53
hsa00230	Purine metabolism	12

KEGG pathways by database search (count: 2)

ID	Name	No. of Genes in BDgene	Brief Description
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
ADCY2	ADCY1	YES	in vitro	8692867
ADCY2	ADCY5	NO	in vitro	9268375

Related other genetic factors

Gene related SNPs (count: 36)

Literature-origin SNPs (count: 6)

rs_ID	Location	Functional Annotation	No. of Studies (Positive/Negative/Trend)
rs6878196	chr5:7717283 - 7717283(1)	intron_variant; non_coding_transcript_variant	1(0/1/0)
rs12186377	chr5:7749127 - 7749127(1)	intron_variant; non_coding_transcript_variant	1(0/1/0)
rs12189243	chr5:7737361 - 7737361(1)	intron_variant; non_coding_transcript_variant	1(0/1/0)
rs17826816	chr5:7519185 - 7519185(1)	intron_variant; non_coding_transcript_variant	1(1/0/0)
rs2973331	chr5:7665524 - 7665524(1)	intron_variant	1(0/1/0)
rs4289537	chr5:7664417 - 7664417(1)	intron_variant	1(0/1/0)

LD-proxies (count: 30)

rs_ID	Location	Functional Annotation
rs13174121	chr5:7712370 - 7712370(1)	intron_variant; non_coding_transcript_variant
rs7704763	chr5:7712587 - 7712587(1)	intron_variant; non_coding_transcript_variant
rs7731801	chr5:7717549 - 7717549(1)	intron_variant; non_coding_transcript_variant
rs10042963	chr5:7722100 - 7722100(1)	intron_variant; non_coding_transcript_variant
rs4235585	chr5:7722423 - 7722423(1)	intron_variant; non_coding_transcript_variant
rs4701794	chr5:7723577 - 7723577(1)	intron_variant; non_coding_transcript_variant
rs7722221	chr5:7730759 - 7730759(1)	intron_variant; non_coding_transcript_variant
rs11738527	chr5:7732080 - 7732080(1)	intron_variant; non_coding_transcript_variant
rs4235586	chr5:7733147 - 7733147(1)	intron_variant; non_coding_transcript_variant
rs4235587	chr5:7734380 - 7734380(1)	intron_variant; non_coding_transcript_variant
rs7730589	chr5:7744512 - 7744512(1)	intron_variant; non_coding_transcript_variant
rs7445805	chr5:7746544 - 7746544(1)	intron_variant; non_coding_transcript_variant
rs4267840	chr5:7751476 - 7751476(1)	intron_variant; upstream_gene_variant
rs4377681	chr5:7747734 - 7747734(1)	intron_variant; non_coding_transcript_variant
rs1035907	chr5:7685894 - 7685894(1)	intron_variant; non_coding_transcript_variant
rs11948030	chr5:7493064 - 7493064(1)	intron_variant; non_coding_transcript_variant
rs2914310	chr5:7686761 - 7686761(1)	intron_variant; non_coding_transcript_variant
rs2914311	chr5:7686807 - 7686807(1)	intron_variant; non_coding_transcript_variant
rs13166360	chr5:7520768 - 7520768(1)	missense_variant; non_coding_transcript_exon_variant; non_coding_transcript_variant
rs2914288	chr5:7689019 - 7689019(1)	intron_variant; non_coding_transcript_variant
rs17826395	chr5:7502943 - 7502943(1)	intron_variant; non_coding_transcript_variant
rs6889938	chr5:7701579 - 7701579(1)	intron_variant
rs5029374	chr5:7723705 - 7723705(1)	intron_variant; non_coding_transcript_variant
rs10475387	chr5:7707065 - 7707065(1)	downstream_gene_variant; intron_variant
rs12187226	chr5:7748895 - 7748895(1)	intron_variant; non_coding_transcript_variant
rs10057901	chr5:7748148 - 7748148(1)	intron_variant; non_coding_transcript_variant
rs2973334	chr5:7662448 - 7662448(1)	downstream_gene_variant; intron_variant
rs6875924	chr5:7752128 - 7752128(1)	intron_variant; upstream_gene_variant
rs10052245	chr5:7749206 - 7749206(1)	intron_variant; non_coding_transcript_variant
rs6874171	chr5:7663258 - 7663258(1)	intron_variant

Gene related CNVs (count: 0)

Gene related other variants (count: 0)

Gene related regions (count: 2)

Region Name	Position	No. of Studies (Positive/Negative/Trend)
Chr 5	chr5:0-181538259	3 (0/2/1)
5pter-p15.1	chr5:0-18400000	1 (0/1/0)

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

Gene relationship with SZ

Gene relationship with MDD

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Region: chr5:7396208..7830081 View in gBrowse