Endometriosis Knowledgebase


A repository for genes associated with endometriosis

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Gene id 359
Gene Summary        Protein Summary    Gene ontology    KEGG pathways    Diseases    PubMed references    

Gene Summary

Gene Symbol AQP2   Gene   UCSC   Ensembl
Aliases AQP-CD, WCH-CD
Gene name aquaporin 2
Alternate names aquaporin-2, ADH water channel, AQP-2, aquaporin 2 (collecting duct), aquaporin-CD, collecting duct water channel protein, water channel protein for renal collecting duct, water-channel aquaporin 2,
Gene location 12q13.12 (49950740: 49958880)     Exons: 4     NC_000012.12
Gene summary(Entrez) This gene encodes a water channel protein located in the kidney collecting tubule. It belongs to the MIP/aquaporin family, some members of which are clustered together on chromosome 12q13. Mutations in this gene have been linked to autosomal dominant and recessive forms of nephrogenic diabetes insipidus. [provided by RefSeq, Oct 2008]
OMIM 107777

Protein Summary

Protein general information P41181  

Name: Aquaporin 2 (AQP 2) (ADH water channel) (Aquaporin CD) (AQP CD) (Collecting duct water channel protein) (WCH CD) (Water channel protein for renal collecting duct)

Length: 271  Mass: 28,837

Tissue specificity: Expressed in renal collecting tubules.

Sequence MWELRSIAFSRAVFAEFLATLLFVFFGLGSALNWPQALPSVLQIAMAFGLGIGTLVQALGHISGAHINPAVTVAC
LVGCHVSVLRAAFYVAAQLLGAVAGAALLHEITPADIRGDLAVNALSNSTTAGQAVTVELFLTLQLVLCIFASTD
ERRGENPGTPALSIGFSVALGHLLGIHYTGCSMNPARSLAPAVVTGKFDDHWVFWIGPLVGAILGSLLYNYVLFP
PAKSLSERLAVLKGLEPDTDWEEREVRRRQSVELHSPQSLPRGTKA
Structural information

Motifs
NPA 1(68-70)
NPA 2.(184-186)
Interpro:  IPR023271 IPR034294 IPR000425 IPR022357
Prosite:   PS00221

Pfam:  
PF00230
CDD:   cd00333

PDB:  
4NEF 4OJ2
PDBsum:   4NEF 4OJ2
STRING:   ENSP00000199280;
Other Databases GeneCards:  AQP2;  Malacards:  AQP2

Gene ontology


GO accessionTerm nameEvidence codeGo category
GO:0003091 renal water homeostasis
TAS biological_process
GO:0003097 renal water transport
IEA biological_process
GO:0005372 water transmembrane trans
porter activity
IDA molecular_function
GO:0005372 water transmembrane trans
porter activity
IDA molecular_function
GO:0005794 Golgi apparatus
IEA cellular_component
GO:0005886 plasma membrane
IDA cellular_component
GO:0005886 plasma membrane
TAS cellular_component
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
IBA cellular_component
GO:0006833 water transport
IDA biological_process
GO:0006833 water transport
IDA biological_process
GO:0006833 water transport
TAS biological_process
GO:0007588 excretion
TAS biological_process
GO:0009992 cellular water homeostasi
s
IBA biological_process
GO:0015168 glycerol transmembrane tr
ansporter activity
IDA 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:0015250 water channel activity
EXP molecular_function
GO:0015254 glycerol channel activity
IBA molecular_function
GO:0015793 glycerol transport
IDA biological_process
GO:0016020 membrane
IDA cellular_component
GO:0016323 basolateral plasma membra
ne
IEA cellular_component
GO:0016324 apical plasma membrane
ISS cellular_component
GO:0016324 apical plasma membrane
IDA cellular_component
GO:0030658 transport vesicle membran
e
TAS cellular_component
GO:0030658 transport vesicle membran
e
TAS cellular_component
GO:0034220 ion transmembrane transpo
rt
IBA biological_process
GO:0042631 cellular response to wate
r deprivation
IEA biological_process
GO:0055037 recycling endosome
IEA cellular_component
GO:0070062 extracellular exosome
IDA cellular_component
GO:0070062 extracellular exosome
IDA cellular_component
GO:0070062 extracellular exosome
IDA cellular_component
GO:0070062 extracellular exosome
IDA cellular_component
GO:0070062 extracellular exosome
IDA cellular_component
GO:0071280 cellular response to copp
er ion
IDA biological_process
GO:0071288 cellular response to merc
ury ion
IDA biological_process
GO:0072205 metanephric collecting du
ct development
IEA biological_process
GO:0003091 renal water homeostasis
TAS biological_process
GO:0003097 renal water transport
IEA biological_process
GO:0005215 transporter activity
IEA molecular_function
GO:0005372 water transmembrane trans
porter activity
IDA molecular_function
GO:0005372 water transmembrane trans
porter activity
IDA molecular_function
GO:0005794 Golgi apparatus
IEA cellular_component
GO:0005794 Golgi apparatus
IEA cellular_component
GO:0005886 plasma membrane
IEA cellular_component
GO:0005886 plasma membrane
IEA cellular_component
GO:0005886 plasma membrane
TAS cellular_component
GO:0005886 plasma membrane
IDA cellular_component
GO:0005886 plasma membrane
TAS cellular_component
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
IBA cellular_component
GO:0006810 transport
IEA biological_process
GO:0006810 transport
IEA biological_process
GO:0006833 water transport
IEA biological_process
GO:0006833 water transport
TAS biological_process
GO:0006833 water transport
IDA biological_process
GO:0006833 water transport
IDA biological_process
GO:0006833 water transport
TAS biological_process
GO:0007588 excretion
TAS biological_process
GO:0009992 cellular water homeostasi
s
IBA biological_process
GO:0015168 glycerol transmembrane tr
ansporter activity
IDA molecular_function
GO:0015250 water channel activity
IEA 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: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
IDA biological_process
GO:0016020 membrane
IEA cellular_component
GO:0016020 membrane
IEA cellular_component
GO:0016020 membrane
IEA cellular_component
GO:0016020 membrane
IDA cellular_component
GO:0016021 integral component of mem
brane
IEA cellular_component
GO:0016323 basolateral plasma membra
ne
IEA cellular_component
GO:0016324 apical plasma membrane
IEA cellular_component
GO:0016324 apical plasma membrane
ISS cellular_component
GO:0016324 apical plasma membrane
IEA cellular_component
GO:0016324 apical plasma membrane
IDA cellular_component
GO:0030658 transport vesicle membran
e
TAS cellular_component
GO:0030658 transport vesicle membran
e
TAS cellular_component
GO:0030659 cytoplasmic vesicle membr
ane
IEA cellular_component
GO:0031410 cytoplasmic vesicle
IEA cellular_component
GO:0031410 cytoplasmic vesicle
IEA cellular_component
GO:0034220 ion transmembrane transpo
rt
IBA biological_process
GO:0042631 cellular response to wate
r deprivation
IEA biological_process
GO:0055037 recycling endosome
IEA cellular_component
GO:0070062 extracellular exosome
IDA cellular_component
GO:0070062 extracellular exosome
IDA cellular_component
GO:0070062 extracellular exosome
IDA cellular_component
GO:0070062 extracellular exosome
IDA cellular_component
GO:0070062 extracellular exosome
IDA cellular_component
GO:0071280 cellular response to copp
er ion
IDA biological_process
GO:0071288 cellular response to merc
ury ion
IDA biological_process
GO:0072205 metanephric collecting du
ct development
IEA biological_process
GO:0003091 renal water homeostasis
TAS biological_process
GO:0005372 water transmembrane trans
porter activity
IDA molecular_function
GO:0005372 water transmembrane trans
porter activity
IDA molecular_function
GO:0005886 plasma membrane
TAS cellular_component
GO:0005886 plasma membrane
IDA cellular_component
GO:0005886 plasma membrane
TAS cellular_component
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
IBA cellular_component
GO:0006833 water transport
TAS biological_process
GO:0006833 water transport
IDA biological_process
GO:0006833 water transport
IDA biological_process
GO:0006833 water transport
TAS biological_process
GO:0007588 excretion
TAS biological_process
GO:0009992 cellular water homeostasi
s
IBA biological_process
GO:0015168 glycerol transmembrane tr
ansporter activity
IDA 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: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
IDA biological_process
GO:0016020 membrane
IDA cellular_component
GO:0016324 apical plasma membrane
ISS cellular_component
GO:0016324 apical plasma membrane
IDA cellular_component
GO:0030658 transport vesicle membran
e
TAS cellular_component
GO:0030658 transport vesicle membran
e
TAS cellular_component
GO:0034220 ion transmembrane transpo
rt
IBA biological_process
GO:0070062 extracellular exosome
IDA cellular_component
GO:0070062 extracellular exosome
IDA cellular_component
GO:0070062 extracellular exosome
IDA cellular_component
GO:0070062 extracellular exosome
IDA cellular_component
GO:0070062 extracellular exosome
IDA cellular_component
GO:0071280 cellular response to copp
er ion
IDA biological_process
GO:0071288 cellular response to merc
ury ion
IDA biological_process

KEGG pathways

hsa04962  Vasopressin-regulated water reabsorption

Diseases

Associated diseases References
Diabetes OMIM: 107777, KEGG: H00252
Endometriosis PMID: 19931078
Endometriosis INFBASE19931078
Venous thrombosis PMID: 18515885

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