Table 1.
Fifteen recessive and 25 dominant genes that represent monogenic causes of human CAKUT if mutated
| Gene | Protein | Refs. |
|---|---|---|
| Autosomal recessive | ||
| ACE | Angiotensin I–converting enzyme | 38 |
| AGT | Angiotensinogen | 38 |
| AGTR1 | Angiotensin II receptor, type 1 | 38 |
| CHRM3 | Muscarinic acetylcholine receptor M3 | 39 |
| FRAS1 | ECM protein FRAS1 | 42 |
| FREM1 | FRAS1-related ECM protein 1 | 42 |
| FREM2 | FRAS1-related ECM protein 2 | 42 |
| GRIP1 | Glutamate receptor interacting protein 1 | 42 |
| HPSE2 | Heparanase 2 (inactive) | 43 |
| ITGA8 | Integrin-α8 | 44 |
| LRIG2 | Leucine-rich repeats and Ig-like domains 2 | 45 |
| REN | Renin | 38 |
| TRAP1 | Heat shock protein 75 (also known as TNF receptor–associated protein 1) | 46 |
| Autosomal dominant | ||
| BMP4 | Bone morphogenic protein 4 | 21 |
| CHD1L | Chromodomain helicase DNA binding protein 1 like | 22 |
| CRKL | CRK-like proto-oncogene, adaptor protein | 23 |
| DSTYK | Dual serine/threonine and tyrosine protein kinase | 24 |
| EYA1 | Eyes absent homolog 1 | 25 |
| GATA3 | GATA binding protein 3 | 26,188 |
| HNF1B | HNF homeobox B | 13 |
| MUC1 | Mucin 1 | 27 |
| NRIP1 | Nuclear receptor interacting protein 1 | 140 |
| PAX2 | Paired box 2 | 12 |
| PBX1 | PBX homeobox 1 | 53 |
| RET | Proto-oncogene tyrosine-protein kinase receptor Ret | 28 |
| ROBO2 | Roundabout, axon guidance receptor, homolog 2 (Drosophila) | 29,189 |
| SALL1 | Sal-like protein 1 (also known as spalt-like transcription factor 1) | 49 |
| SIX2 | SIX homeobox 2 | 21 |
| SIX5 | SIX homeobox 5 | 51 |
| SLIT2 | Slit homolog 2 | 29 |
| SOX17 | Transcription factor SIX-17 | 30 |
| SRGAP1 | SLIT-ROBO Rho GTPase activating protein 1 | 29 |
| TBX18 | T-box transcription factor TBX18 | 31 |
| TNXB | Tenascin XB | 32 |
| UMOD | Uromodulin | 33 |
| UPK3A | Uroplakin 3A | 34 |
| WNT4 | Protein Wnt-4 | 35–37 |
| X-linked recessive | ||
| KAL1 | Anosmin 1 | 47 |