Human | AGRN | 375790 | agrin | acts at the nerve-muscle synapse in the glomerular basal membrane and on T-lymphocytes |
Human | NEWENTRY | 192343 | Record to support submission of GeneRIFs for a gene not in Gene (human; man). | Immunodetection of glomerular C4d deposition in renal biopsy samples could be a convenient method of identifying patients at risk of thrombotic microangiopathy in lupus nephritis [complement C4d] |
Human | COQ2 | 27235 | coenzyme Q2 4-hydroxybenzoate polyprenyltransferase | COQ2 mutations cause a primary glomerular disease with renal lesions that vary in severity and are not necessarily associated with neurological signs |
Human | CD2AP | 23607 | CD2-associated protein | two patients with focal segmental glomerulosclerosis had a mutation predicted to ablate expression of one CD2AP allele, implicating CD2AP as a determinant of human susceptibility to glomerular disease |
Human | RPH3A | 22895 | rabphilin 3A homolog (mouse) | Rabphilin-3A and Rab3A are present in normal mouse, rat, and human kidneys, with an exclusively glomerular expression and a comma-like pattern of positivity along the glomerular capillary wall, suggestive for podocyte staining |
Human | HPSE | 10855 | heparanase | Heparanase mRNA may be important to the loss of glomerular negative charge in GBM and lead to proteinuria in steroid responsive nephrotic syndrome |
Human | TNFSF12 | 8742 | tumor necrosis factor (ligand) superfamily, member 12 | TWEAK is a new player in kidney injury both at the glomerular and tubulointerstitial levels [review] |
Human | DYSF | 8291 | dysferlin, limb girdle muscular dystrophy 2B (autosomal recessive) | dysferlin is present in glomeruli and may be associated with glomerular permeabi |
Human | NPHS2 | 7827 | nephrosis 2, idiopathic, steroid-resistant (podocin) | Mutations of NPHS1 or NPHS2, the genes encoding for nephrin and podocin, lead to early onset of heavy proteinuria, and rapid progression to end-stage renal disease, suggesting that both proteins are essential for the integrity of the glomerular filter |
Human | WT1 | 7490 | Wilms tumor 1 | The WT1 gene encodes a zinc finger transcription factor involved in kidney and gonadal development and, when mutated, in the occurrence of kidney tumor and glomerular diseases |
Human | VEGFA | 7422 | vascular endothelial growth factor A | Advanced glycation end products up-regulate VEGFR-2 and decrease heparan sulfate proteoglycan sites, and might participate in blocking glomerular angiogenesis vascular endothelial growth factor plays a critical role in glomerular development and function, and provides the foundation to develop novel diagnostic or therapeutic tools for patients with glomerular disease--REVIEW |
Human | TRPC6 | 7225 | transient receptor potential cation channel, subfamily C, member 6 | the canonical transient receptor potential 6 (TRPC6) ion channel is expressed in podocytes and is a component of the glomerular slit diaphragm |
Human | THBS1 | 7057 | thrombospondin 1 | Increased glomerular expression of thrombospondin-1 (THBS1), transforming growth factor beta 1 (TGFB1), and connective tissue growth factor (CTGF), occurs from the earliest stage of diabetic nephropathy |
Human | THBD | 7056 | thrombomodulin | Thrombomodulin-dependent activated protein C formation mediates cytoprotection in diabetic nephropathy by inhibiting glomerular apoptosis |
Human | TGFB1 | 7040 | transforming growth factor, beta 1 | expression of glomerular TGF-beta1 and alpha-SMA, and interstitial TGF-beta1 is not correlated with clinical course in IgA nephropathy |
Human | SGK1 | 6446 | serum/glucocorticoid regulated kinase 1 | Glomerulonephritis leads to glomerular and in some cases to epithelial up-regulation of hSGK1 transcription |
Human | CCL2 | 6347 | chemokine (C-C motif) ligand 2 | that integrin-mediated cell adhesion to the ECM can induce MCP-1 expression through activation of FAK, and suggest a role for altered extracellular matrix deposition in the progression of glomerular diseases by affecting gene expression MCP-1/CCR2 system is functionally active in podocytes and may be implicated in the migratory events triggered by podocyte injury in crescentic GN and other glomerular diseases |
Human | PTX3 | 5806 | pentraxin 3, long | Detection of the long pentraxin PTX3 in mesangial cells of patients with IgA glomerulonephritis suggests its potential role in the modulation of glomerular and tubular injury |
Human | PKD2 | 5311 | polycystic kidney disease 2 (autosomal dominant) | A new phosphorylation site for polycystin-2 within its N-terminal domain (serine-76) is functionally significant for maintenance of normal glomerular and tubular morphology |
Human | SERPINE1 | 5054 | serpin peptidase inhibitor, clade E (nexin, plasminogen activator inhibitor type 1), member 1 | Our findings suggest that risk of glomerular microthrombosis in lupus nephritis is attributable, at least in part, to an epistatic effect of PAI-1 and FGB genes |
Human | NPHS1 | 4868 | nephrosis 1, congenital, Finnish type (nephrin) | Nephrin protein and mRNA are differentially expressed in acquired proteinuric diseases according to the specific glomerular disease or severity of glomerular damage |
Human | NOTCH2 | 4853 | notch 2 | activation of the Notch pathway, which is critical in glomerular patterning, contributes to the development of glomerular disease |
Human | NOTCH1 | 4851 | notch 1 | activation of the Notch pathway, which is critical in glomerular patterning, contributes to the development of glomerular disease |
Human | SMAD7 | 4092 | SMAD family member 7 | Smad7 is activated in injured podocytes in vitro and in human glomerular disease and participates in negative control of TGF-beta/Smad signaling in addition to its pro-apoptotic activity |
Human | KCNA10 | 3744 | potassium voltage-gated channel, shaker-related subfamily, member 10 | KCNA10 in human proximal tubular cells, glomerular and vascular endothelial cells, and also in vascular smooth muscle cells |