Gene name

AQP2 (cph)

Experiment(s)

For this entry:
AQP2_HUMAN (AQP2)
Species Homo sapiens
Localization Apical plasma membrane
Reference Kamsteeg EJ,Stoffels M,Tamma G,Konings IB,Deen PM (2009) Repulsion between Lys258 and upstream arginines explains the missorting of the AQP2 mutant p.Glu258Lys in nephrogenic diabetes insipidus., Hum Mutat, 30, 1387-96.
[PubMed] [DOI]
Evidence level Antibody staining + sub-protein manipulation
Organ Kidney
Cell MDCK cells (distal tubule)
Notes The motif RRRxxxEL was identified as a sorting signal
For ortholog entries:

Alignment and sequence features

Wheel: zoom in/out; drag: scroll left/right. Sequences and features are drawn in three lines. Bottom line: topology (red bar: cytoplasmic region; yellow bar: transmembrane region; transmembrane re-entrant loop; blue bar: extracellular region; black bar: signal peptide). Middle line: amino acid sequence (grey bar or one letter code). Top line: post translational modifications (Y: N-glycosylation site; Y: O-glycosylation site;P: phosphorylation site), intrinsically disordered regions (light green bar: IDR) and short linear motifs (light steel blue bar: ELM region).
CCTOP topology prediction
Start End Localisation
1 12 Cytoplasmic
13 30 Membrane
31 42 Extracellular
43 60 Membrane
61 63 Cytoplasmic
64 77 Re-entrant loop
78 86 Cytoplasmic
87 104 Membrane
105 130 Extracellular
131 148 Membrane
149 158 Cytoplasmic
159 176 Membrane
177 180 Extracellular
181 194 Re-entrant loop
195 201 Extracellular
202 219 Membrane
220 271 Cytoplasmic
Phosphorylation
Position Resource
256 449854
261 464644
264 2238600
269 3339002

Family and domain data

Database Domain/Family name
InterPro Aquaporin-like
InterPro Aquaporin_transptr
InterPro MIP
InterPro MIP_CS
Pfam MIP

Interactions

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