AQP2
entrez
359
canonical
uniprot
P41181
canonical
ensembl
ENSG00000167580
resolver
ensp
ENSP00000199280
resolver
enst
ENST00000199280
resolver
genesymbol
AQP2
resolver
hgnc
HGNC:634
resolver
uniprot
Q9UD68
resolver
uniprot_entry
AQP2_HUMAN
resolver
uniprot_sec
Q9UD68
resolver
amino_acid_sequence
MWELRSIAFSRAVFAEFLATLLFVFFGLGSALNWPQALPSVLQIAMAFGLGIGTLVQALGHISGAHINPAVTVACLVGCHVSVLRAAFYVAAQLLGAVAGAALLHEITPADIRGDLAVNALSNSTTAGQAVTVELFLTLQLVLCIFASTDERRGENPGTPALSIGFSVALGHLLGIHYTGCSMNPARSLAPAVVTGKFDDHWVFWIGPLVGAILGSLLYNYVLFPPAKSLSERLAVLKGLEPDTDWEEREVRRRQSVELHSPQSLPRGTKA
uniprot
proteins
disease_involvement
DISEASE: Diabetes insipidus, nephrogenic, 2, autosomal (NDI2) [MIM:125800]: A disorder caused by the inability of the renal collecting ducts to absorb water in response to arginine vasopressin. Characterized by excessive water drinking (polydipsia), excessive urine excretion (polyuria), persistent hypotonic urine, and hypokalemia. Inheritance can be autosomal dominant or recessive. {ECO:0000269|PubMed:12050236, ECO:0000269|PubMed:12191971, ECO:0000269|PubMed:15509592, ECO:0000269|PubMed:16120822, ECO:0000269|PubMed:16361827, ECO:0000269|PubMed:16845277, ECO:0000269|PubMed:19585583, ECO:0000269|PubMed:19701945, ECO:0000269|PubMed:24944815, ECO:0000269|PubMed:7524315, ECO:0000269|PubMed:8140421, ECO:0000269|PubMed:8882880, ECO:0000269|PubMed:9048343, ECO:0000269|PubMed:9302264, ECO:0000269|PubMed:9402087, ECO:0000269|PubMed:9550615, ECO:0000269|PubMed:9649557, ECO:0000269|PubMed:9745427}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
function
FUNCTION: Forms a water-specific channel that provides the plasma membranes of renal collecting duct with high permeability to water, thereby permitting water to move in the direction of an osmotic gradient (PubMed:15509592, PubMed:7510718, PubMed:7524315, PubMed:8140421, PubMed:8584435). Plays an essential role in renal water homeostasis (PubMed:15509592, PubMed:7524315, PubMed:8140421). Could also be permeable to glycerol (PubMed:8584435). {ECO:0000269|PubMed:15509592, ECO:0000269|PubMed:7510718, ECO:0000269|PubMed:7524315, ECO:0000269|PubMed:8140421, ECO:0000269|PubMed:8584435}.
uniprot
proteins
mass_dalton
28837
uniprot
proteins
mutagenesis
MUTAGEN 78; /note="G->A: Does not affect interaction with MIAC; when associated with A-79."; /evidence="ECO:0000269|PubMed:36117171"; MUTAGEN 79; /note="C->A: Does not affect interaction with MIAC; when associated with A-78."; /evidence="ECO:0000269|PubMed:36117171"; MUTAGEN 148; /note="S->A: No effect on sorting from the ER to the vesicles, redistribution to apical membrane, or endocytosis."; /evidence="ECO:0000269|PubMed:12194985"; MUTAGEN 148; /note="S->D: Retained in the endoplasmic reticulum."; /evidence="ECO:0000269|PubMed:12194985"; MUTAGEN 217; /note="L->A: Abolishes interaction with MIAC; when associated with A-221."; /evidence="ECO:0000269|PubMed:36117171"; MUTAGEN 221; /note="Y->A: Abolishes interaction with MIAC; when associated with A-217."; /evidence="ECO:0000269|PubMed:36117171"; MUTAGEN 229; /note="S->A: No effect on sorting from the ER to the vesicles, redistribution to apical membrane, or endocytosis."; /evidence="ECO:0000269|PubMed:12194985"; MUTAGEN 229; /note="S->D: No effect on sorting from the ER to the vesicles, redistribution to apical membrane, or endocytosis."; /evidence="ECO:0000269|PubMed:12194985"; MUTAGEN 231; /note="S->A: No effect on sorting from the ER to the vesicles, redistribution to apical membrane, or endocytosis."; /evidence="ECO:0000269|PubMed:12194985"; MUTAGEN 231; /note="S->D: No effect on sorting from the ER to the vesicles, redistribution to apical membrane, or endocytosis."; /evidence="ECO:0000269|PubMed:12194985"; MUTAGEN 232; /note="E->A: Reduces interaction with MIAC."; /evidence="ECO:0000269|PubMed:36117171"; MUTAGEN 244; /note="T->A: No effect on sorting from the ER to the vesicles, redistribution to apical membrane, or endocytosis."; /evidence="ECO:0000269|PubMed:12194985"; MUTAGEN 244; /note="T->E: No effect on sorting from the ER to the vesicles, redistribution to apical membrane, or endocytosis."; /evidence="ECO:0000269|PubMed:12194985"; MUTAGEN 256; /note="S->A: Retained in vesicles."; /evidence="ECO:0000269|PubMed:12194985"; MUTAGEN 256; /note="S->D: Expressed in the apical membrane."; /evidence="ECO:0000269|PubMed:12194985"; MUTAGEN 262; /note="P->A: No effect on expression at the apical cell membrane."; /evidence="ECO:0000269|PubMed:15509592
uniprot
proteins
post_translational_modification
PTM: Ser-256 phosphorylation is necessary and sufficient for expression at the apical membrane. Endocytosis is not phosphorylation-dependent. {ECO:0000269|PubMed:12194985}.; PTM: N-glycosylated. {ECO:0000269|PubMed:7510718}.
uniprot
proteins
protein_family
MIP/aquaporin (TC 1.A.8) family
uniprot
proteins
pubmed
11929850
uniprot
proteins
pubmed
12050236
uniprot
proteins
pubmed
12191971
uniprot
proteins
pubmed
12194985
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
15509592
uniprot
proteins
pubmed
16120822
uniprot
proteins
pubmed
16361827
uniprot
proteins
pubmed
16845277
uniprot
proteins
pubmed
19585583
uniprot
proteins
pubmed
19701945
uniprot
proteins
pubmed
24733887
uniprot
proteins
pubmed
24944815
uniprot
proteins
pubmed
32176498
uniprot
proteins
pubmed
36117171
uniprot
proteins
pubmed
7510718
uniprot
proteins
pubmed
7522228
uniprot
proteins
pubmed
7524315
uniprot
proteins
pubmed
8140421
uniprot
proteins
pubmed
8584435
uniprot
proteins
pubmed
8882880
uniprot
proteins
pubmed
9048343
uniprot
proteins
pubmed
9302264
uniprot
proteins
pubmed
9402087
uniprot
proteins
pubmed
9550615
uniprot
proteins
pubmed
9649557
uniprot
proteins
pubmed
9745427
uniprot
proteins
sequence_length
271
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Apical cell membrane {ECO:0000269|PubMed:12194985, ECO:0000269|PubMed:15509592, ECO:0000269|PubMed:7510718}; Multi-pass membrane protein {ECO:0000269|PubMed:24733887}. Basolateral cell membrane {ECO:0000250|UniProtKB:P34080}; Multi-pass membrane protein {ECO:0000269|PubMed:24733887}. Cell membrane {ECO:0000269|PubMed:15509592, ECO:0000269|PubMed:24733887, ECO:0000269|PubMed:7524315, ECO:0000269|PubMed:8140421}; Multi-pass membrane protein {ECO:0000269|PubMed:24733887}. Cytoplasmic vesicle membrane {ECO:0000269|PubMed:12194985, ECO:0000269|PubMed:15509592}; Multi-pass membrane protein {ECO:0000269|PubMed:24733887}. Golgi apparatus, trans-Golgi network membrane {ECO:0000269|PubMed:12194985}; Multi-pass membrane protein {ECO:0000269|PubMed:12194985, ECO:0000269|PubMed:24733887}. Note=Shuttles from vesicles to the apical membrane (PubMed:15509592). Vasopressin-regulated phosphorylation is required for translocation to the apical cell membrane (PubMed:15509592). PLEKHA8/FAPP2 is required to transport AQP2 from the TGN to sites where AQP2 is phosphorylated (By similarity). {ECO:0000250|UniProtKB:P34080, ECO:0000269|PubMed:15509592}.
uniprot
proteins
transmembrane_region
TRANSMEM 12..32; /note="Helical"; /evidence="ECO:0000269|PubMed:24733887, ECO:0007744|PDB:4NEF"; TRANSMEM 41..59; /note="Helical"; /evidence="ECO:0000269|PubMed:24733887, ECO:0007744|PDB:4NEF"; TRANSMEM 86..107; /note="Helical"; /evidence="ECO:0000269|PubMed:24733887, ECO:0007744|PDB:4NEF"; TRANSMEM 128..148; /note="Helical"; /evidence="ECO:0000269|PubMed:24733887, ECO:0007744|PDB:4NEF"; TRANSMEM 157..176; /note="Helical"; /evidence="ECO:0000269|PubMed:24733887, ECO:0007744|PDB:4NEF"; TRANSMEM 202..222; /note="Helical"; /evidence="ECO:0000269|PubMed:24733887, ECO:0007744|PDB:4NEF
uniprot
proteins