Gene: [12q13/AQP2] aquaporin 2 (collecting duct); diabetes insipidus, nephrogenic, autosomal recessive (MIM:222000);
MAP | 5' - AQP2 - 5kb - AQP5 - 7kb - AQP6 - 3' (Ma-1997). |
REF | CLO,SEQ,STR,LOC "Deen
PM &: CCG, 66, 260-262, 1994 MUT "Deen PMT &: J Clin Invest, 95, N5, 2291-2296, 1995 FUN "Kanno K &: New Engl J Med, 332, N23, 1540-1545, 1995 MAP "Ma T &: Genomics, 43, N3, 387-389, 1997 FUN "Nielsen S &: PNAS, 92, N4, 1013-1017, 1995 FUN "Saito F &: CCG, 68, 45-48, 1995 CLO,SEQ,STR,LOC "Sasaki S &: J Clin Invest, 93, 1250-1256, 1994 CLO,SEQ,STR,LOC "Uchida S &: JBC, 269, 23451-23455, 1994 MUT "van Lieburg AF &: AJHG, 55, 648-652, 1994 |
SWI | SWISSPROT: P41181 |
KEY | ren, mem |
CLA | coding, basic |
LOC | 12 q13 |
MIM | MIM: 107777 |
