• Gene id: 116

Gene Summary

• Gene Symbol: ADCYAP1   Gene   UCSC   Ensembl
• Aliases: PACAP
• Gene name: adenylate cyclase activating polypeptide 1
• Alternate names: pituitary adenylate cyclase-activating polypeptide, adenylate cyclase activating polypeptide 1 (pituitary), prepro-PACAP,
• Gene location: 18p11.32 (904383: 912171)     Exons: 6     NC_000018.10
• Gene summary(Entrez): This gene encodes a secreted proprotein that is further processed into multiple mature peptides. These peptides stimulate adenylate cyclase and increase cyclic adenosine monophosphate (cAMP) levels, resulting in the transcriptional activation of target ge
• OMIM: 102980

SNPs

rs398123027

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000006.12   g.35943953G>A
NC_000006.11   g.35911730G>A
NG_033897.1   g.85684C>T
NM_052961.4   c.2860C>T
NM_052961.3   c.2860C>T
NM_001193476.2   c.2860C>T
NM_001193476.1   c.2860C>T
NM_138718.2   c.2545C>T
XM_011514294.3   c.2782C>T
XM_017010235.1   c.2860C>T
NP_4431  

rs397515622

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000015.10   g.55491203C>A
NC_000015.9   g.55783401C>A
NG_021213.1   g.22032G>T
NM_130810.4   c.325G>T
NM_130810.3   c.325G>T
NM_001033559.2   c.325G>T
NM_001033560.1   c.325G>T
NR_037923.1   n.580G>T
NP_570722.2   p.Glu109Ter
NP_001028731.1   p.Glu109Ter
NP_001028732  

rs142724470

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000006.12   g.35951201C>T
NC_000006.11   g.35918978C>T
NG_033897.1   g.78436G>A
NM_052961.4   c.2434G>A
NM_052961.3   c.2434G>A
NM_001193476.2   c.2434G>A
NM_001193476.1   c.2434G>A
NM_138718.2   c.2119G>A
XM_011514294.3   c.2356G>A
XM_017010235.1   c.2434G>A
NP_4431  

rs140210148

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000006.12   g.36012301C>T
NC_000006.11   g.35980078C>T
NG_033897.1   g.17336G>A
NM_052961.4   c.260G>A
NM_052961.3   c.260G>A
NM_001193476.2   c.260G>A
NM_001193476.1   c.260G>A
NM_138718.2   c.260G>A
XM_011514294.3   c.260G>A
XR_926055.3   n.370G>A
XM_017010235.1   c.

rs2292596

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000005.10   g.422840C>G
NC_000005.10   g.422840C>T
NC_000005.9   g.422955C>G
NC_000005.9   g.422955C>T
NG_029834.2   g.123665C>G
NG_029834.2   g.123665C>T
NG_029834.1   g.123665C>G
NG_029834.1   g.123665C>T
NM_020731.4   c.565C>G
NM_020731.4   c.565C>T
NM_001242412.1  

Protein Summary

Gene ontology

GO accession	Term name	Evidence code	Go category

KEGG pathways

Pathway id	Pathway name
hsa04024	cAMP signaling pathway
hsa04080	Neuroactive ligand-receptor interaction
hsa04911	Insulin secretion
hsa04924	Renin secretion
hsa04713	Circadian entrainment

Diseases

Associated diseases	References
Multiple sclerosis	GAD: 17175032
Diabetes	GAD: 11968092
Metabolic syndrome	GAD: 19470168
Major depressive disorder	GAD: 19914336
Schizophrenia	GAD: 11515750
Several psychiatric disorders	GAD: 19086053
Bipolar disorder	GAD: 18349695
Maintenance of follicle viability	INFBASE: 18782879
Premature ovarian failure (POF)	INFBASE: 23656386
Hypogonadotropic hypogonadism	INFBASE: 23656386
Sperm maturation arrest	MIK: 21674129
Male factor infertility	MIK: 32159232
Associated in developing germ cells during spermatogenesis	MIK: 7724826
May be associated with spermiogenesis	MIK: 7956953

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
7724826	Associated in developing germ cells during spermatogenesis				Male infertility
7956953	May be associated with spermiogenesis				Male infertility