Endometriosis Knowledgebase


A repository for genes associated with endometriosis

Search Result


Gene id 343
Gene Summary        Protein Summary    Gene ontology    KEGG pathways    Diseases    PubMed references    

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, Jul 2008]
OMIM 603750

Protein Summary

Protein general information O94778  

Name: Aquaporin 8 (AQP 8)

Length: 261  Mass: 27,381

Tissue specificity: Expressed only in pancreas and colon.

Sequence MSGEIAMCEPEFGNDKAREPSVGGRWRVSWYERFVQPCLVELLGSALFIFIGCLSVIENGTDTGLLQPALAHGLA
LGLVIATLGNISGGHFNPAVSLAAMLIGGLNLVMLLPYWVSQLLGGMLGAALAKAVSPEERFWNASGAAFVTVQE
QGQVAGALVAEIILTTLLALAVCMGAINEKTKGPLAPFSIGFAVTVDILAGGPVSGGCMNPARAFGPAVVANHWN
FHWIYWLGPLLAGLLVGLLIRCFIGDGKTRLILKAR
Structural information

Motifs
NPA 1(92-94)
NPA 2.(210-212)
Interpro:  IPR023271 IPR023277 IPR034294 IPR000425 IPR022357
Prosite:   PS00221

Pfam:  
PF00230
STRING:   ENSP00000219660;
Other Databases GeneCards:  AQP8;  Malacards:  AQP8

Gene ontology


GO accessionTerm nameEvidence codeGo category
GO:0005886 plasma membrane
TAS cellular_component
GO:0005886 plasma membrane
TAS cellular_component
GO:0005887 integral component of pla
sma membrane
TAS cellular_component
GO:0006810 transport
TAS biological_process
GO:0006833 water transport
TAS biological_process
GO:0009992 cellular water homeostasi
s
IBA biological_process
GO:0015250 water channel activity
EXP molecular_function
GO:0015250 water channel activity
EXP molecular_function
GO:0015250 water channel activity
EXP molecular_function
GO:0015250 water channel activity
EXP molecular_function
GO:0015250 water channel activity
EXP molecular_function
GO:0015250 water channel activity
EXP molecular_function
GO:0015250 water channel activity
EXP molecular_function
GO:0015250 water channel activity
EXP molecular_function
GO:0015250 water channel activity
EXP molecular_function
GO:0015250 water channel activity
EXP molecular_function
GO:0015250 water channel activity
EXP molecular_function
GO:0015250 water channel activity
EXP molecular_function
GO:0015250 water channel activity
EXP molecular_function
GO:0015250 water channel activity
EXP molecular_function
GO:0015250 water channel activity
EXP molecular_function
GO:0015250 water channel activity
EXP molecular_function
GO:0015250 water channel activity
EXP molecular_function
GO:0015250 water channel activity
EXP molecular_function
GO:0015250 water channel activity
EXP molecular_function
GO:0015250 water channel activity
EXP molecular_function
GO:0015250 water channel activity
EXP molecular_function
GO:0015250 water channel activity
EXP molecular_function
GO:0015250 water channel activity
EXP molecular_function
GO:0015254 glycerol channel activity
IBA molecular_function
GO:0015793 glycerol transport
IEA biological_process
GO:0034220 ion transmembrane transpo
rt
IBA biological_process
GO:0045177 apical part of cell
IDA cellular_component
GO:0071320 cellular response to cAMP
IEP biological_process
GO:0005215 transporter activity
IEA molecular_function
GO:0005886 plasma membrane
TAS cellular_component
GO:0005886 plasma membrane
TAS cellular_component
GO:0005886 plasma membrane
TAS cellular_component
GO:0005887 integral component of pla
sma membrane
TAS cellular_component
GO:0006810 transport
IEA biological_process
GO:0006810 transport
IEA biological_process
GO:0006810 transport
TAS biological_process
GO:0006833 water transport
TAS biological_process
GO:0006833 water transport
TAS biological_process
GO:0009992 cellular water homeostasi
s
IBA biological_process
GO:0015250 water channel activity
EXP molecular_function
GO:0015250 water channel activity
EXP molecular_function
GO:0015250 water channel activity
EXP molecular_function
GO:0015250 water channel activity
EXP molecular_function
GO:0015250 water channel activity
EXP molecular_function
GO:0015250 water channel activity
EXP molecular_function
GO:0015250 water channel activity
EXP molecular_function
GO:0015250 water channel activity
EXP molecular_function
GO:0015250 water channel activity
EXP molecular_function
GO:0015250 water channel activity
EXP molecular_function
GO:0015250 water channel activity
EXP molecular_function
GO:0015250 water channel activity
EXP molecular_function
GO:0015250 water channel activity
EXP molecular_function
GO:0015250 water channel activity
EXP molecular_function
GO:0015250 water channel activity
EXP molecular_function
GO:0015250 water channel activity
EXP molecular_function
GO:0015250 water channel activity
EXP molecular_function
GO:0015250 water channel activity
EXP molecular_function
GO:0015250 water channel activity
EXP molecular_function
GO:0015250 water channel activity
EXP molecular_function
GO:0015250 water channel activity
EXP molecular_function
GO:0015250 water channel activity
EXP molecular_function
GO:0015250 water channel activity
TAS molecular_function
GO:0015250 water channel activity
EXP molecular_function
GO:0015254 glycerol channel activity
IBA molecular_function
GO:0015793 glycerol transport
IEA biological_process
GO:0016020 membrane
IEA cellular_component
GO:0016020 membrane
IEA cellular_component
GO:0016020 membrane
IEA cellular_component
GO:0016021 integral component of mem
brane
IEA cellular_component
GO:0034220 ion transmembrane transpo
rt
IBA biological_process
GO:0045177 apical part of cell
IDA cellular_component
GO:0071320 cellular response to cAMP
IEP biological_process
GO:0005886 plasma membrane
TAS cellular_component
GO:0005886 plasma membrane
TAS cellular_component
GO:0005886 plasma membrane
TAS cellular_component
GO:0005887 integral component of pla
sma membrane
TAS cellular_component
GO:0006810 transport
TAS biological_process
GO:0006833 water transport
TAS biological_process
GO:0006833 water transport
TAS biological_process
GO:0009992 cellular water homeostasi
s
IBA biological_process
GO:0015250 water channel activity
EXP molecular_function
GO:0015250 water channel activity
EXP molecular_function
GO:0015250 water channel activity
EXP molecular_function
GO:0015250 water channel activity
EXP molecular_function
GO:0015250 water channel activity
EXP molecular_function
GO:0015250 water channel activity
EXP molecular_function
GO:0015250 water channel activity
EXP molecular_function
GO:0015250 water channel activity
EXP molecular_function
GO:0015250 water channel activity
EXP molecular_function
GO:0015250 water channel activity
EXP molecular_function
GO:0015250 water channel activity
EXP molecular_function
GO:0015250 water channel activity
EXP molecular_function
GO:0015250 water channel activity
EXP molecular_function
GO:0015250 water channel activity
EXP molecular_function
GO:0015250 water channel activity
EXP molecular_function
GO:0015250 water channel activity
EXP molecular_function
GO:0015250 water channel activity
EXP molecular_function
GO:0015250 water channel activity
EXP molecular_function
GO:0015250 water channel activity
EXP molecular_function
GO:0015250 water channel activity
EXP molecular_function
GO:0015250 water channel activity
EXP molecular_function
GO:0015250 water channel activity
EXP molecular_function
GO:0015250 water channel activity
TAS molecular_function
GO:0015250 water channel activity
EXP molecular_function
GO:0015254 glycerol channel activity
IBA molecular_function
GO:0034220 ion transmembrane transpo
rt
IBA biological_process
GO:0045177 apical part of cell
IDA cellular_component
GO:0071320 cellular response to cAMP
IEP biological_process

KEGG pathways

hsa04976  Bile secretion

Diseases

Associated diseases References
Endometriosis PMID: 19931078
Polycystic ovary syndrome (PCOS) PMID: 23953589
Endometriosis INFBASE19931078

PubMed references


PMID Condition Mutation Ethnicity Population details Infertility_type Associated_genes Abstract
19931078 Endometrio
sis

70 women with e
ndometriomas
Aquaporins 2
5
8
Show abstract