AVPR2
entrez
554
canonical
uniprot
P30518
canonical
ensembl
ENSG00000126895
resolver
ensp
ENSP00000359066
resolver
ensp
ENSP00000496396
resolver
genesymbol
AVPR2
resolver
genesymbol_syn
ADHR
resolver
genesymbol_syn
DIR
resolver
genesymbol_syn
DIR3
resolver
genesymbol_syn
V2R
resolver
hgnc
HGNC:897
resolver
uniprot
C5HF20
resolver
uniprot
O43192
resolver
uniprot
Q3MJD3
resolver
uniprot
Q9UCV9
resolver
uniprot_entry
V2R_HUMAN
resolver
uniprot_sec
C5HF20
resolver
uniprot_sec
O43192
resolver
uniprot_sec
Q3MJD3
resolver
uniprot_sec
Q9UCV9
resolver
amino_acid_sequence
MLMASTTSAVPGHPSLPSLPSNSSQERPLDTRDPLLARAELALLSIVFVAVALSNGLVLAALARRGRRGHWAPIHVFIGHLCLADLAVALFQVLPQLAWKATDRFRGPDALCRAVKYLQMVGMYASSYMILAMTLDRHRAICRPMLAYRHGSGAHWNRPVLVAWAFSLLLSLPQLFIFAQRNVEGGSGVTDCWACFAEPWGRRTYVTWIALMVFVAPTLGIAACQVLIFREIHASLVPGPSERPGGRRRGRRTGSPGEGAHVSAAVAKTVRMTLVIVVVYVLCWAPFFLVQLWAAWDPEAPLEGAPFVLLMLLASLNSCTNPWIYASFSSSVSSELRSLLCCARGRTPPSLGPQDESCTTASSSLAKDTSS
uniprot
proteins
disease_involvement
DISEASE: Nephrogenic syndrome of inappropriate antidiuresis (NSIAD) [MIM:300539]: Characterized by an inability to excrete a free water load, with inappropriately concentrated urine and resultant hyponatremia, hypoosmolarity, and natriuresis. {ECO:0000269|PubMed:15872203}. Note=The disease is caused by variants affecting the gene represented in this entry.; DISEASE: Diabetes insipidus, nephrogenic, 1, X-linked (NDI1) [MIM:304800]: 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. {ECO:0000269|PubMed:10477431, ECO:0000269|PubMed:10694923, ECO:0000269|PubMed:10770218, ECO:0000269|PubMed:10820167, ECO:0000269|PubMed:10820168, ECO:0000269|PubMed:11026555, ECO:0000269|PubMed:11232028, ECO:0000269|PubMed:11793119, ECO:0000269|PubMed:11916004, ECO:0000269|PubMed:1303257, ECO:0000269|PubMed:1303271, ECO:0000269|PubMed:1356229, ECO:0000269|PubMed:16845277, ECO:0000269|PubMed:7560098, ECO:0000269|PubMed:7607658, ECO:0000269|PubMed:7833930, ECO:0000269|PubMed:7913579, ECO:0000269|PubMed:7933835, ECO:0000269|PubMed:7984150, ECO:0000269|PubMed:7987330, ECO:0000269|PubMed:7999078, ECO:0000269|PubMed:8037205, ECO:0000269|PubMed:8045948, ECO:0000269|PubMed:8078903, ECO:0000269|PubMed:8267567, ECO:0000269|PubMed:8479490, ECO:0000269|PubMed:8514744, ECO:0000269|PubMed:8929875, ECO:0000269|PubMed:9127330, ECO:0000269|PubMed:9369448, ECO:0000269|PubMed:9402087, ECO:0000269|PubMed:9452109, ECO:0000269|PubMed:9711877, ECO:0000269|PubMed:9773787, ECO:0000269|PubMed:9853256}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
function
FUNCTION: G protein-coupled receptor for arginine vasopressin, an antidiuretic that promotes renal water reabsorption (PubMed:1534149, PubMed:19440390, PubMed:33664408, PubMed:33742150). Ligand binding causes a conformation change that triggers signaling via guanine nucleotide-binding proteins (G proteins) and modulates the activity of downstream effectors, such as adenylate cyclase (cAMP) (PubMed:33664408, PubMed:33742150). AVPR2 is coupled to G(s) G alpha proteins and mediates activation of adenylate cyclase activity (PubMed:33664408, PubMed:33742150). {ECO:0000269|PubMed:1534149, ECO:0000269|PubMed:19440390, ECO:0000269|PubMed:33664408, ECO:0000269|PubMed:33742150}.
uniprot
proteins
mass_dalton
40279
uniprot
proteins
mutagenesis
MUTAGEN 31; /note="T->A: Does not affect signaling and ability to activate adenylate cyclase."; /evidence="ECO:0000269|PubMed:33664408"; MUTAGEN 96; /note="Q->A: Strongly decreased signaling and ability to activate adenylate cyclase."; /evidence="ECO:0000269|PubMed:33664408"; MUTAGEN 105; /note="F->A: Strongly decreased signaling and ability to activate adenylate cyclase."; /evidence="ECO:0000269|PubMed:33664408"; MUTAGEN 123; /note="M->A: Does not affect arginine vasopressin-binding."; /evidence="ECO:0000269|PubMed:33664408"; MUTAGEN 174; /note="Q->A: Strongly decreased signaling and ability to activate adenylate cyclase."; /evidence="ECO:0000269|PubMed:33664408"; MUTAGEN 202; /note="R->A: Does not affect signaling and ability to activate adenylate cyclase."; /evidence="ECO:0000269|PubMed:33664408"; MUTAGEN 205; /note="Y->A: Strongly decreased signaling and ability to activate adenylate cyclase."; /evidence="ECO:0000269|PubMed:33664408"; MUTAGEN 287; /note="F->A: Strongly decreased signaling and ability to activate adenylate cyclase."; /evidence="ECO:0000269|PubMed:33664408"; MUTAGEN 291; /note="Q->A: Does not affect arginine vasopressin-binding."; /evidence="ECO:0000269|PubMed:33664408"; MUTAGEN 302; /note="L->A: Does not affect signaling and ability to activate adenylate cyclase."; /evidence="ECO:0000269|PubMed:33664408"; MUTAGEN 312; /note="L->A: Does not affect arginine vasopressin-binding."; /evidence="ECO:0000269|PubMed:33664408"; MUTAGEN 341; /note="C->S: Reduced palmitoylation, reduced cell surface localization but coupling to G protein unaffected."; /evidence="ECO:0000269|PubMed:9224808"; MUTAGEN 342; /note="C->S: Reduced palmitoylation, reduced cell surface localization but coupling to G protein unaffected."; /evidence="ECO:0000269|PubMed:9224808
uniprot
proteins
post_translational_modification
PTM: Phosphorylation of the P-X-P-P motif promotes association with beta-arrestin ARRB2, leading to receptor desensitization and negative regulation of G protein-coupled receptor signaling. {ECO:0000269|PubMed:37209686}.
uniprot
proteins
protein_family
G protein-coupled receptor 1 family
uniprot
proteins
protein_family
Vasopressin/oxytocin receptor subfamily
uniprot
proteins
pubmed
10477431
uniprot
proteins
pubmed
10694923
uniprot
proteins
pubmed
10770218
uniprot
proteins
pubmed
10820167
uniprot
proteins
pubmed
10820168
uniprot
proteins
pubmed
11026555
uniprot
proteins
pubmed
11232028
uniprot
proteins
pubmed
11793119
uniprot
proteins
pubmed
11916004
uniprot
proteins
pubmed
1303257
uniprot
proteins
pubmed
1303271
uniprot
proteins
pubmed
1356229
uniprot
proteins
pubmed
1415251
uniprot
proteins
pubmed
1534149
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
15872203
uniprot
proteins
pubmed
16845277
uniprot
proteins
pubmed
16959974
uniprot
proteins
pubmed
19440390
uniprot
proteins
pubmed
21056967
uniprot
proteins
pubmed
23236378
uniprot
proteins
pubmed
33664408
uniprot
proteins
pubmed
33742150
uniprot
proteins
pubmed
37209686
uniprot
proteins
pubmed
7560098
uniprot
proteins
pubmed
7607658
uniprot
proteins
pubmed
7833930
uniprot
proteins
pubmed
7913579
uniprot
proteins
pubmed
7933835
uniprot
proteins
pubmed
7984150
uniprot
proteins
pubmed
7987330
uniprot
proteins
pubmed
7999078
uniprot
proteins
pubmed
8037205
uniprot
proteins
pubmed
8045948
uniprot
proteins
pubmed
8078903
uniprot
proteins
pubmed
8267567
uniprot
proteins
pubmed
8479490
uniprot
proteins
pubmed
8514744
uniprot
proteins
pubmed
8735975
uniprot
proteins
pubmed
8882880
uniprot
proteins
pubmed
8929875
uniprot
proteins
pubmed
9127330
uniprot
proteins
pubmed
9224808
uniprot
proteins
pubmed
9369448
uniprot
proteins
pubmed
9402087
uniprot
proteins
pubmed
9452109
uniprot
proteins
pubmed
9581826
uniprot
proteins
pubmed
9711877
uniprot
proteins
pubmed
9773787
uniprot
proteins
pubmed
9853256
uniprot
proteins
sequence_length
371
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Cell membrane {ECO:0000269|PubMed:23236378, ECO:0000269|PubMed:33742150}; Multi-pass membrane protein {ECO:0000269|PubMed:33664408, ECO:0000269|PubMed:33742150}.
uniprot
proteins
transmembrane_region
TRANSMEM 39..60; /note="Helical; Name=1"; /evidence="ECO:0000269|PubMed:33742150, ECO:0007744|PDB:7DW9"; TRANSMEM 78..101; /note="Helical; Name=2"; /evidence="ECO:0000269|PubMed:33742150, ECO:0007744|PDB:7DW9"; TRANSMEM 109..135; /note="Helical; Name=3"; /evidence="ECO:0000269|PubMed:33742150, ECO:0007744|PDB:7DW9"; TRANSMEM 159..177; /note="Helical; Name=4"; /evidence="ECO:0000269|PubMed:33742150, ECO:0007744|PDB:7DW9"; TRANSMEM 200..226; /note="Helical; Name=5"; /evidence="ECO:0000269|PubMed:33742150, ECO:0007744|PDB:7DW9"; TRANSMEM 272..293; /note="Helical; Name=6"; /evidence="ECO:0000269|PubMed:33742150, ECO:0007744|PDB:7DW9"; TRANSMEM 308..325; /note="Helical; Name=7"; /evidence="ECO:0000269|PubMed:33742150, ECO:0007744|PDB:7DW9
uniprot
proteins