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KEGG Pathway Report
Basic Info
| ID | hsa04960 |
|---|---|
| Name | Aldosterone-regulated sodium reabsorption |
| Description | Sodium transport across the tight epithelia of Na+ reabsorbing tissues such as the distal part of the kidney nephron and colon is the major factor determining total-body Na+ levels, and thus, long-term blood pressure. Aldosterone plays a major role in sodium and potassium metabolism by binding to epithelial mineralocorticoid receptors (MR) in the renal collecting duct cells localized in the distal nephron, promoting sodium resorption and potassium excretion. Aldosterone enters a target cell and binds MR, which translocates into the nucleus and regulates gene transcription. Activation of MR leads to increased expression of Sgk-1, which phosphorylates Nedd4-2, an ubiquitin-ligase which targets ENAC to proteosomal degradation. Phosphorylated Nedd4-2 dissociates from ENAC, increasing its apical membrane abundance. Activation of MR also leads to increased expression of Na+/K+-ATPase, thus causing a net increase in sodium uptake from the renal filtrate. The specificity of MR for aldosterone is provided by 11beta-HSD2 by the rapid conversion of cortisol to cortisone in renal cortical collecting duct cells. Recently, besides genomic effects mediated by activated MR, rapid aldosterone actions that are independent of translation and transcription have been documented. |
| No. of Genes in ADHDgene | 13 |
| Source | Pathway by Database Search |
Pathway related genes in ADHDgene (count: 13)
Literature-origin genes (count: 1)
| Approved Symbol | Approved Name | Location | No. of Studies (significant/non-significant/trend)  |
|---|---|---|---|
| NR3C2 | nuclear receptor subfamily 3, group C, member 2 | 4q31 | 1(0/1/0) |
Genes from other sources (count: 12)
| Approved Symbol | Approved Name | Location | Source |
|---|---|---|---|
| PRKCB | protein kinase C, beta | 16p12 | Mapped by significant region |
| SGK1 | serum/glucocorticoid regulated kinase 1 | 6q23 | Mapped by significant region |
| MAPK3 | mitogen-activated protein kinase 3 | 16p11.2 | Mapped by CNV |
| MAPK1 | mitogen-activated protein kinase 1 | 22q11.2 | Mapped by LD-proxy |
| KCNJ1 | potassium inwardly-rectifying channel, subfamily J, member 1 | 11q24 | Mapped by significant region |
| FXYD2 | FXYD domain containing ion transport regulator 2 | 11q23 | Mapped by significant region |
| NEDD4L | neural precursor cell expressed, developmentally down-regulated 4-like | 18q21 | Mapped by significant region |
| PIK3R1 | phosphoinositide-3-kinase, regulatory subunit 1 (alpha) | 5q13.1 | Mapped by significant region |
| SCNN1B | sodium channel, nonvoltage-gated 1, beta | 16p12.2-p12.1 | Mapped by significant region |
| PIK3CG | phosphoinositide-3-kinase, catalytic, gamma polypeptide | 7q22 | Mapped by CNV |
| SCNN1G | sodium channel, nonvoltage-gated 1, gamma | 16p12 | Mapped by significant region |
| INS | insulin | 11p15.5 | Mapped by literature SNP |