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. Author manuscript; available in PMC: 2022 Mar 30.
Published in final edited form as: Nat Rev Urol. 2020 Jul 9;17(8):459–468. doi: 10.1038/s41585-020-0348-2

Table 1 ∣.

Urothelial genes and proteins with roles in CAKUTs

Gene Protein Phenotype Refs
Human
BMP4 Bone morphogenetic protein 4 Congenital UPJO, renal hypodysplasia 58-60
BNC2 Zinc finger protein basonuclin 2 Bladder outlet obstruction, distal hypospadias, PUV 64,65
FOXF1 Forkhead box protein F1 Renal agenesis, hypospadias 62
SHH Sonic hedgehog protein Renal hypodysplasia, urogenital formations 61
TP63 Tumour protein 63 Bladder exstrophy 69
UPK2 Uroplakin 2 VUR 85
UPK3A Uroplakin 3a Renal aplasia, dysplasia, multicystic dysplastic kidney and VUR 54,82
Mouse
Bnc2 Zinc finger protein basonuclin 2 Distal urethral defects 65
Cldn4 Claudin 4 Urothelial hyperplasia resulting in ureteral atresia and hydroureteronephrosis 86
Exoc5 Exocyst complex component 5 Impaired ureteral urothelial differentiation, triggering fibroproliferative response and bilateral congenital UPJO 87
Shh Sonic hedgehog protein Bladder hypoplasia and hydroureteronephrosis 43,56
Tp63 Tumour protein 63 Bladder exstrophy 67
Upk1b Uroplakin 1b Urothelial hyperplasia without ureteral atresia, duplex kidneys, non-obstructive hydronephrosis with onset in adulthood 71
Upk2 Uroplakin 2 VUR, urothelial hyperplasia resulting in ureteral atresia and hydroureteronephrosis 70
Upk3a Uroplakin 3a Small urothelial plaque size and VUR 73

CAKUTs, congenital anomalies of the kidney and urinary tract; PUV, posterior urethral valve; UPJO, ureteropelvic junction obstruction; VUR, vesicoureteral reflux.