• Gene id: 343

Gene Summary

• Gene Symbol: AQP8   Gene   UCSC   Ensembl
• Aliases: AQP-8
• Gene name: aquaporin 8
• Alternate names: aquaporin-8,
• Gene location: 16p12.1 (25216916: 25228931)     Exons: 6     NC_000016.10
• Gene summary(Entrez): Aquaporin 8 (AQP8) is a water channel protein. Aquaporins are a family of small integral membrane proteins related to the major intrinsic protein (MIP or AQP0). Aquaporin 8 mRNA is found in pancreas and colon but not other tissues. [provided by RefSeq, J
• OMIM: 603750

SNPs

rs11204546

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

NC_000001.11   g.247896410T>A
NC_000001.11   g.247896410T>C
NC_000001.11   g.247896410T>G
NC_000001.10   g.248059712T>A
NC_000001.10   g.248059712T>C
NC_000001.10   g.248059712T>G
NG_053132.1   g.5824T>A
NG_053132.1   g.5824T>C
NG_053132.1   g.5824T>G
NM_001001957.2   c

Protein Summary

Gene ontology

GO accession	Term name	Evidence code	Go category

KEGG pathways

Pathway id	Pathway name
hsa04976	Bile secretion

Diseases

Associated diseases	References
Endometriosis	INFBASE: 19931078
Female infertility	INFBASE: 19931078
Polycystic ovary syndrome (PCOS)	INFBASE: 23953589
Spermatogenic defects	MIK: 11380332
Male infertility	MIK: 11380332
Responsible for physiological sperm volume regulation crucial to in vivo fertilization	MIK: 18829704

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
18829704	Responsible for physiological sperm volume regulation crucial to in vivo fertilization				Male infertility
11380332	Involved in spermatogenesis, Male infertility				Male infertility