Table 1.
List of genes and proteins deleted or over-expressed in glomerulus or the tubules resulting in proteinuria, foot process developmental abnormality or normal phenotype.
| Gene/Protein | Human/Animal | Disease/Phenotype | Response to Injury | Age of Onset | References |
|---|---|---|---|---|---|
| Podocytes | |||||
| NPHS1/Nephrin | Human/Mouse | FP Effacement/Proteinuria | NA | At birth | Kestila et. al (26) |
| NPHS2/Podocin | Human | FP Effacement/Proteinuria | NA | Late | Boute et. a (30) |
| PLC epsilon 1 | Human/Zebra Fish | Diffuse Mesangial Sclerosis (DMS) | NA | Early | Hinkes et. al (92) |
| Nck | Mouse | FP Formation Defect | NA | At birth | Jones et. al (53) |
| Fyn | Mouse | Subtle changes in FP | NA | Early | Yu et. al (56) |
| Fyn/Yes Combined | Mouse | FP effacement/Proteinuria | NA | Early | Stein et. al (32) |
| Kirrel/Neph1 | Mouse | FP Effacement/Proteinuria | NA | Early | Donoviel et. al (58) |
| TRPC6 | Human | FSGS | NA | NA | Winn et. al (65), Reiser et. al (66) |
| Combined CD2ap/Fyn | Mouse | FSGS | NA | Late | Huber et. al (47) |
| ACTN4/Alpha-Actinin-4 | Human/Mouse | FSGS | NA | Late | Kaplan et. al (64) |
| Notch1 Transgenic | Mouse | FSGS | NA | NA | Niranjan et. al (33) |
| NFAT Transgenic | Mouse | FSGS | NA | Early | Wang et. al (34) |
| uPAR | Mouse | NA | Protected | NA | Wei et. al (71) |
| Focal Adhesion Kinase | Mouse | NA | Protected | NA | Ma et. al (70) |
| COQ2/Coenzyme Q10 | Human | FSGS | NA | Late | Scalgia et. al (36) |
| HGF/C-met | Mouse | Normal | injury and proteinuria following adriamycin | Dai et. al (48) | |
| aPKC Lambda/iota | Mouse | FSGS/FP Effacement/Proteinuria | NA | Late | Huber et. al(61), Hirose et. al (62) |
| PDSS2/Prenly Diphosphate Synthase Subunit 2 | Human/Mouse | FP effacement/Proteinuria | NA | Late | Peng et. al (37) |
| Synaptopodin | Mouse | Normal | Slow Recovery | NA | Asanuma et al (40) |
| Cfl1/Cofilin 1 | Mouse/Zebra Fish | FP Effacement/Proteinuria | process morphology | Late | Garg et. al (50), Ashworth et. al. (60) |
| Sidekick Transgene | Mouse | FSGS | NA | Late | Kaufman et. al (49) |
| INF2 | Human | FSGS | NA | Late | Brown et. al (68) |
| ATG5 | Mouse | Glomerulosclerosis/Proteinuria | NA | Late | Hartleben et. al (90) |
| PI3Kc II | Mouse | DMS/FP effacement/Proteinuria | NA | Late | Harris et. al (91) |
| EP4 receptor Transgenic | Mouse | Proteinuria | 5/6 th Nephrectomy required | NA | Stitt-Cavanagh et. al (39) |
| AT1 Transgenic | Mouse | FP Effacement | NA | Early | Hoffman et. al (41) |
| Beta Catenin | Mouse | NA | Protected | NA | Dai et. al (42) |
| Podocalyxin Transgenic | Mouse | FP formation Defect | NA | NA | Economou et al. (43) |
| FAT1 | Mouse | FP Effacement/Proteinuria | NA | Perinatal Lethality | Ciani et. al (59) |
| GLEPP1 | Mouse | Broadening of FP/No Proteinuria | NA | NA | Wharram et. al (35) |
| VEGF transgenic | Mouse | Collapsing glomeruolopathy | NA | Early | Eremina et. al (44) |
| VEGF Heterozygous deletion | Mouse | Endotheliosis/Proteinuria | NA | Early | Eremina et. al (44) |
| Glomerular Basement Membrane | |||||
| Lamb2/Laminin β2 | Human/Mouse | DMS/FSGS (Pierson syndrome) | NA | Perinatal Lethality | Jarad et. al (15) |
| Beta 1 Integrin | Mouse | Proteinuria | NA | At Birth | Pozzi et. al (46) |
| Integrin alpha 3 subunit | Mouse | Disorganized GBM/FP formation defect/Proteinuria | NA | Early | Kang et. al (101) |
| Integrin Linked Kinase | Mouse | GBM alteration/FSGS | NA | Early | El Aouni et. al (102) |
| Tubules | |||||
| Cubulin | Mouse | Normal/Minimal Proteinuria | NA | NA | Amsellen et. al (109) |
| Megalin | Mouse | LMW proteinuria | NA | Early | Leheste et. al (45) |
| Transcription Factors | |||||
| WT1 | Human | Denys Drash and Frasier Syndrome | NA | Early | Yang et. al (88), Guo et. al (89) |
| PTIP | Mouse | Proteinuria | NA | Late | LeFevre et. al (87) |
| LMX1B/LIM homeobox transcription factor | Human | Nail Patella syndrome | NA | Early | Rohr et al. (80) |
| SMARCAL1 | Human | FSGS/Steroid Resistant NS | NA | Late | Boerkoel et al.(77) |