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	ADCYAP1
Symbol Alias	PACAP
Approved Name	adenylate cyclase activating polypeptide 1 (pituitary)
Name Alias	prepro-PACAP
Location	18p11
Position	chr18:904943-912172, 1
External Links	HGNC: 241 Entrez Gene: 116 Ensembl: ENSG00000141433 UCSC: uc010dkh.4
No. of Studies	3 (Positive: 1; Negative: 2; trend: 0)
Overlap with SZ?	YES
Overlap with MDD?	YES

Gene related studies (count: 3)

Reference	Tested Markers	Statistical Values/Author Comments	Result Category	Comment on Study
Ishiguro, H.,2001	Other variant: ADCYAP1_IVS3_37A/T	This study did not provide evidence for the contribution of the PACAP gene to the etiology of schizophrenia or bipolar disorders in the Japanese population.	Negative	Comment on Study
Soria, V.,2010	SNP: rs1610037, rs17500692	Significant associations of ADCYAP1 gene were found in BPD patients.	Positive	Comment on Study
Lohoff, F. W., 2008 (a)	SNP: rs1610037, rs1893154, rs2231187, rs2846811, rs2856966, rs8192595, rs928978 Haplotype: rs1893154 - rs2846811 - rs8192595( 1-1-1 (1=major allele, 2=minor allele) ), rs1893154 - rs2846811 - rs8192595( 1-2-1 (1=major allele, 2=minor allele)), rs1893154 - rs2846811 - rs8192595( 2-1-1 (1=major allele, 2=minor allele)), rs2846811 - rs8192595 - rs2856966( 1-1-1 (1=major allele, 2=minor allele)), rs2846811 - rs8192595 - rs2856966( 1-1-2 (1=major allele, 2=minor allele)), rs2846811 - rs8192595 - rs2856966( 2-1-1 (1=major allele, 2=minor allele)), rs2856966 - rs928978 - rs2231187( 1-1-1 (1=major allele, 2=minor allele)), rs2856966 - rs928978 - rs2231187( 1-1-2 (1=major allele, 2=minor allele)), rs2856966 - rs928978 - rs2231187( 1-2-1 (1=major allele, 2=minor allele)), rs2856966 - rs928978 - rs2231187( 2-2-1 (1=major allele, 2=minor allele)), rs8192595 - rs2856966 - rs928978( 1-1-1 (1=major allele, 2=minor allele)), rs8192595 - rs2856966 - rs928978( 1-1-2 (1=major allele, 2=minor allele)), rs8192595 - rs2856966 - rs928978( 1-2-2 (1=major allele, 2=minor allele)), rs928978 - rs2231187 - rs1610037( 1-1-1 (1=major allele, 2=minor allele)), rs928978 - rs2231187 - rs1610037( 1-1-2 (1=major allele, 2=minor allele)), rs928978 - rs2231187 - rs1610037( 1-2-1 (1=major allele, 2=minor allele)), rs928978 - rs2231187 - rs1610037( 2-1-1 (1=major allele, 2=minor allele)), rs928978 - rs2231187 - rs1610037( 2-1-2 (1=major allele, 2=minor allele))	Our results provide no evidence of an association of the PACAP gene with BPD in this group of patients and controls.	Negative	Comment on Study

Gene functional annotation

Gene related GO terms (count: 51)

GO terms by PBA (count: 3)

ID	Name	Type	Evidence[PMID]	No. of Genes in BDgene
GO:0031175	neuron projection development	biological process	IDA[23800469]	10
GO:0005102	receptor binding	molecular function	IPI[7680413]	37
GO:0007565	female pregnancy	biological process	TAS[10698193]	15

GO terms by database search (count: 48)

ID	Name	Type	Evidence[PMID]	No. of Genes in BDgene
GO:0007218	neuropeptide signaling pathway	biological process	IDA[23800469]	18
GO:0016521	pituitary adenylate cyclase activating polypeptide activity	molecular function	IDA[9603988]	1
GO:0070374	positive regulation of ERK1 and ERK2 cascade	biological process	IDA[23800469]	14
GO:0001541	ovarian follicle development	biological process	IEA	4
GO:0007204	positive regulation of cytosolic calcium ion concentration	biological process	IEA	21
GO:0001662	behavioral fear response	biological process	IEA	16
GO:0045909	positive regulation of vasodilation	biological process	IEA	14
GO:0032880	regulation of protein localization	biological process	IDA[9603988]	4
GO:0010976	positive regulation of neuron projection development	biological process	IEA	10
GO:0045860	positive regulation of protein kinase activity	biological process	IDA[23800469]	8
GO:0043267	negative regulation of potassium ion transport	biological process	IEA	6
GO:0060124	positive regulation of growth hormone secretion	biological process	IEA	2
GO:0005184	neuropeptide hormone activity	molecular function	IDA[23800469]	8
GO:0032755	positive regulation of interleukin-6 production	biological process	IEA	8
GO:0005615	extracellular space	cellular component	IEA	85
GO:0042594	response to starvation	biological process	IEA	8
GO:0010579	positive regulation of adenylate cyclase activity involved in G-protein coupled receptor signaling pathway	biological process	IDA[9603988]	16
GO:0002878	negative regulation of acute inflammatory response to non-antigenic stimulus	biological process	IEA	1
GO:0043547	positive regulation of GTPase activity	biological process	IDA[23800469]	30
GO:0007267	cell-cell signaling	biological process	TAS[2302217]	29
GO:0005576	extracellular region	cellular component	TAS	97
GO:0045786	negative regulation of cell cycle	biological process	IEA	2
GO:0001821	histamine secretion	biological process	IEA	1
GO:0071651	positive regulation of chemokine (C-C motif) ligand 5 production	biological process	IDA[24696163]	1
GO:0060253	negative regulation of glial cell proliferation	biological process	IEA	3
GO:0060078	regulation of postsynaptic membrane potential	biological process	IEA	1
GO:0021983	pituitary gland development	biological process	IEA	4
GO:0071385	cellular response to glucocorticoid stimulus	biological process	IEA	4
GO:0031858	pituitary adenylate cyclase-activating polypeptide receptor binding	molecular function	IEA	1
GO:0008284	positive regulation of cell proliferation	biological process	IEA	44
GO:0019933	cAMP-mediated signaling	biological process	IMP[23800469]	6
GO:0048011	neurotrophin TRK receptor signaling pathway	biological process	TAS	33
GO:0090274	positive regulation of somatostatin secretion	biological process	IEA	1
GO:0007190	activation of adenylate cyclase activity	biological process	TAS	12
GO:0045471	response to ethanol	biological process	IEA	24
GO:0005515	protein binding	molecular function	IPI[25451228]	563
GO:0046034	ATP metabolic process	biological process	IEA	1
GO:0007169	transmembrane receptor protein tyrosine kinase signaling pathway	biological process	TAS	16
GO:0002865	negative regulation of acute inflammatory response to antigenic stimulus	biological process	IEA	1
GO:0070445	regulation of oligodendrocyte progenitor proliferation	biological process	IEA	2
GO:0010656	negative regulation of muscle cell apoptotic process	biological process	IEA	2
GO:0051968	positive regulation of synaptic transmission, glutamatergic	biological process	IEA	8
GO:0005057	receptor signaling protein activity	molecular function	IEA	7
GO:0051428	peptide hormone receptor binding	molecular function	IDA[11175907]; IPI[17470806]	2
GO:0019233	sensory perception of pain	biological process	IEA	15
GO:0043195	terminal bouton	cellular component	IEA	17
GO:0045944	positive regulation of transcription from RNA polymerase II promoter	biological process	IDA[23800469]	91
GO:0008277	regulation of G-protein coupled receptor protein signaling pathway	biological process	IDA[11175907]	5

Gene related KEGG pathways (count: 0)

Gene related BioCarta pathways (count: 0)

Gene related interactors from protein-protein interactions data in HPRD (count: 7)

Gene	Interactor	Interactor in BDgene?	Experiment Type	PMID
ADCYAP1	VIPR1	NO	in vitro	12429744
ADCYAP1	ADCYAP1R1	NO	in vitro;in vivo	10583729 , 8253796
ADCYAP1	SCTR	NO	in vitro;in vivo	1335692
ADCYAP1	MME	NO	in vitro	9313778
ADCYAP1	CASP2	NO	in vitro;in vivo;yeast 2-hybrid	11972030 , 11350957
ADCYAP1	VIPR2	YES	in vitro;in vivo	8146174
ADCYAP1	SHH	NO	in vitro	12417650

Related other genetic factors

Gene related SNPs (count: 8)

Literature-origin SNPs (count: 8)

rs_ID	Location	Functional Annotation	No. of Studies (Positive/Negative/Trend)
rs1610037	chr18:910634 - 910634(1)	3_prime_UTR_variant; downstream_gene_variant; non_coding_transcript_exon_variant; non_coding_transcript_variant; upstream_gene_variant	2(1/1/0)
rs928978	chr18:908534 - 908534(1)	intron_variant; non_coding_transcript_variant; upstream_gene_variant	1(0/1/0)
rs1893154	chr18:905124 - 905124(1)	5_prime_UTR_variant; intron_variant; non_coding_transcript_exon_variant; non_coding_transcript_variant; upstream_gene_variant	1(0/1/0)
rs2231187	chr18:909560 - 909560(1)	non_coding_transcript_exon_variant; non_coding_transcript_variant; synonymous_variant; upstream_gene_variant	1(0/1/0)
rs8192595	chr18:907520 - 907520(1)	intron_variant; non_coding_transcript_variant; upstream_gene_variant	1(0/1/0)
rs2846811	chr18:906672 - 906672(1)	intron_variant; non_coding_transcript_variant; upstream_gene_variant	1(0/1/0)
rs17500692	chr18:900788 - 900788(1)	downstream_gene_variant; intron_variant; non_coding_transcript_variant; upstream_gene_variant	1(1/0/0)
rs2856966	chr18:907709 - 907709(1)	missense_variant; non_coding_transcript_exon_variant; non_coding_transcript_variant; upstream_gene_variant	1(0/1/0)

LD-proxies (count: 0)

Gene related CNVs (count: 0)

Gene related other variants (count: 1)

Variant Name	Variant Type	Location in Gene	No. of Studies (Positive/Negative/Trend)
ADCYAP1_IVS3_37A/T	point mutation		1 (0/1/0)

Gene related regions (count: 6)

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)
18p11.3	chr18:0-7200000	1 (1/0/0)

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

Gene relationship with SZ

Overlap with SZ from cross-disorder studies (count: 1)

Reference	Description	Result Category
11515750	This study did not provide evidence for the contribution of the PACAP gene to the etiology of schizophrenia or bipolar disorders in the Japanese population.	Negative

Overlap with SZ from candidate gene intersection analysis (count: 3)

Reference	ID in SZGene	Result Category
11515750	154	Negative
20414143	154	Negative
17387318	154	Positive

Gene relationship with MDD

Overlap with MDD from cross-disorder studies (count: 1)

Reference	Description	Category in MDD
20072116	Significant associations of ADCYAP1 gene were found in MDD patients.	Positive

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

Reference	Description	Category in MDD	Link in MK4MDD
19914336	We found that a genetic variant in the PACAP gene was associated with MDD.	Pos	ADCYAP1

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Region: chr18:904943..912172 View in gBrowse