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. 2013 Aug 26;8(8):e71885. doi: 10.1371/journal.pone.0071885

Table 2. Candidate genes included in the resequencing study (n = 40).

Gene Gene name/protein function RefSeq ID Exons
Aconitase [32] Catalyzes the isomerization of citrate to isocitrate NM_001098 18
CaSR [33] Calcium-sensing receptor NM_000388 7
Citrate lyase [34] Catalyzes the formation of acetyl-CoA from citrate NM_001096 29
Claudin 2 [35] Tight junction protein, proximal tubule (PT) NM_001171092 2
Claudin 8 [35] Tight junction protein, primarily distal nephron (DCT) NM_99328 1
Claudin 10 [36] Tight junction protein, thick ascending limb (TAL) and intestine NM_001160100 5
Claudin 14 [37] Tight junction protein, TAL NM_001146077 3
Claudin 16 [15] Tight junction protein, TAL NM_006580 4
Claudin 19 [30] Tight junction protein, TAL and DCT NM_001123395 5
CLCN5 [38] Chloride channel 5, mutations cause Dent's disease NM_000084 15
CLCNKA [39] Basolateral chloride channel expressed in TAL NM_001042704 20
CLCNKB [40] Basolateral chloride channel expressed in TAL and DCT; mutation cause type III Bartter's syndrome NM_000085 20
FGF23 [41] Fibroblast growth factor 23, phosphatonin NM_020638 3
GCMB [42] Glial cell missing B, mutations cause familial isolated hypoparathyroidism NM_004752 5
Klotho [43] Regulator of TRPV5 and FGF23 NM_004795 5
NHERF1 [44] Hydrogen exchanger regulatory factor 1, mutations cause hypophosphatemia and nephrolithiasis NM_004252 6
NHERF2 [45] Hydrogen exchanger regulatory factor 2, expressed like NHERF1 in PT NM_001130012 7
NKCC2 [46] Na+-K-2Cl-cotransporter, mutations cause type 1 (neonatal) Bartter's syndrome NM_000220 27
PDZK1 [47] Hydrogen exchanger regulatory factor 3, PT NM_002614 10
PIK3C2G Phosphoinositide-3-kinase, class 3, γ polypeptide NM_004570 32
PTH [48] Parathyroid hormone NM_000315 3
PTHR [49] Parathyroid hormone receptor 1 NM_000316 16
ROMK [50] Renal outer medullary K+ channel, mutations cause type 2 Bartter's syndrome NM_000338 4
SLC12A3 [51] Thiazide-sensitive Na+-Cl cotransporter, mutation cause Gitelman's syndrome NM_000339 26
SLC13A2 [52] Na+ citrate transporter NaC1 NM_001145975 12
SLC13A3 [53] Na+ citrate transporter NaC2 NM_001193340 14
SLC25A1 [54] Mitochondrial citrate transporter NM_005984 9
SLC26A1 [55] Oxalate and sulfate anion transporter NM34425 4
SLC26A2 [56] Oxalate and citrate exchanger NM_000112 2
SLC26A6 [57] Oxalate and citrate exchanger NM_001040454 21
SLC34A1 [58] Na+ phosphate co-transporter NaPi2A NM_003052 13
SLC34A3 [59] Na+ phosphate co-transporter NaPi2C NM_001177316 13
SLC4A1 [60] AE1 oxalate, mutations cause distal RTA NM_000342 20
SLC4A2 [61] AE2 oxalate NM_003040 23
SLC4A3 [61] AE3 oxalate NM_005070 23
TRPV5 [62] Epithelial Ca2+ channel ECaC1 NM_019841 14
TRPV6 [63] Epithelial Ca2+ channel ECaC2 NM_018646 15
UMOD [64] Uromodulin NM_001008389 11
VDR [65] Vitamin D receptor NM_000376 11
WNK4 [66] Protein kinase, lysine deficient 4, mutations cause pseudohypoaldosteronism type 2 NM_032387 19