Gene Report

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Basic Info

Approved Symbol	ADCY9
Symbol Alias	AC9
Approved Name	adenylate cyclase 9
Location	16p13.3
Position	chr16:3953387-4116185, -1
External Links	HGNC: 240 Entrez Gene: 115 Ensembl: ENSG00000162104 UCSC: uc002cvx.3
No. of Studies	2 (Positive: 1; Negative: 1; trend: 0)
Overlap with SZ?	NO
Overlap with MDD?	YES

Gene related studies (count: 2)

Reference	Tested Markers	Statistical Values/Author Comments	Result Category	Comment on Study
Toyota, T.,2002	Haplotype: (ADCY9_2316A>G) - ( ADCY9_(TTTA)n)() Other variant: ADCY9_(TTTA)n, ADCY9_2316A>G	The case-control study using the missense polymorphism, 2316A>G (Ile772Met), and the tetranucleotide repeat (TTTA)n showed no significant association with mood disorders in Japanese samples.	Negative	Comment on Study
Toyota, T.,2002	Other variant: ADCY9_(TTTA)n, ADCY9_2316A>G	In conclusion, our present study revealed weak association of the ADCY9 gene variation with mood disorders in the family-based approach.	Positive	Comment on Study

Gene functional annotation

Gene related GO terms (count: 23)

ID	Name	Type	Evidence[PMID]	No. of Genes in BDgene
GO:0005886	plasma membrane	cellular component	TAS	360
GO:0007268	synaptic transmission	biological process	TAS	116
GO:0005887	integral component of plasma membrane	cellular component	TAS[9628827]	158
GO:0045087	innate immune response	biological process	TAS	49

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

Gene related KEGG pathways (count: 6)

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

ID	Name	No. of Genes in BDgene
hsa04916	Melanogenesis	16
hsa04912	GnRH signaling pathway	17
hsa05110	Vibrio cholerae infection	9

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: 0)

Gene related CNVs (count: 0)

Gene related other variants (count: 2)

Variant Name	Variant Type	Location in Gene	No. of Studies (Positive/Negative/Trend)
ADCY9_(TTTA)n	microsatellite		2 (1/1/0)
ADCY9_2316A>G	point mutation		2 (1/1/0)

Gene related regions (count: 2)

Region Name	Position	No. of Studies (Positive/Negative/Trend)
Chr 16	chr16:0-90338345	5 (1/3/1)
16p13.3	chr16:0-7800000	2 (1/0/1)

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

Gene relationship with SZ

Gene relationship with MDD

Reference	Description	Category in MDD
11840511	The case-control study using the missense polymorphism, 2316A>G (Ile772Met), and the tetranucleotide repeat (TTTA)n showed no significant association with mood disorders in Japanese samples.	Negative

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Region: chr16:3953387..4116185 View in gBrowse