Hot Results
- Quick Search
- Large-scale studies
- Genome-wide Association Studies of ADHD
- Genome-wide Linkage Studies of ADHD
- Genome-wide CNV Analyses of ADHD
- Meta-analysis Studies of ADHD
- Data Summary
Gene Report
Basic Info
| Approved Symbol | NEDD4L |
|---|---|
| Symbol Alias | KIAA0439, RSP5, NEDD4-2 |
| Approved Name | neural precursor cell expressed, developmentally down-regulated 4-like |
| Location | 18q21 |
| Position | chr18:55711619-56068772, + |
| External Links |
HGNC: 7728 Entrez Gene: 23327 Ensembl: ENSG00000049759 UCSC: uc002lgy.2 |
| No. of Studies | 0 (significant: 0; non-significant: 0; trend: 0) |
| Source | Mapped by significant region |
Gene related studies (count: 0)
Gene related SNPs (count: 0)
Gene related CNVs (count: 0)
Gene related other variant (count: 0)
Gene related regions (count: 1)
| Region Name | Position | No. of Studies (significant/non-significant/trend)  |
|---|---|---|
| 18q21.31-21.32 | chr18:53800000-59000000 | 1 (1/0/0) |
Gene related GO terms (count: 35)
GO terms by PBA (with statistical significance of FDR<0.05) (count: 0)
GO terms by database search (count: 35)
Gene related KEGG pathways (count: 3)
| ID | Name | No. of Genes in ADHDgene | Brief Description |
|---|---|---|---|
| hsa04144 | Endocytosis | 39 | Endocytosis is a mechanism for cells to remove ligands, nutr...... Endocytosis is a mechanism for cells to remove ligands, nutrients, and plasma membrane (PM) proteins, and lipids from the cell surface, bringing them into the cell interior. Transmembrane proteins entering through clathrin-dependent endocytosis (CDE) have sequences in their cytoplasmic domains that bind to the APs (adaptor-related protein complexes) and enable their rapid removal from the PM. In addition to APs and clathrin, there are numerous accessory proteins including dynamin. Depending on the various proteins that enter the endosome membrane, these cargoes are sorted to distinct destinations. Some cargoes, such as nutrient receptors, are recycled back to the PM. Ubiquitylated membrane proteins, such as activated growth-factor receptors, are sorted into intraluminal vesicles and eventually end up in the lysosome lumen via multivesicular endosomes (MVEs). There are distinct mechanisms of clathrin-independent endocytosis (CIE) depending upon the cargo and the cell type. More... |
| hsa04960 | Aldosterone-regulated sodium reabsorption | 13 | Sodium transport across the tight epithelia of Na+ reabsorbi...... 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. More... |
| hsa04120 | Ubiquitin mediated proteolysis | 29 | Protein ubiquitination plays an important role in eukaryotic...... Protein ubiquitination plays an important role in eukaryotic cellular processes. It mainly functions as a signal for 26S proteasome dependent protein degradation. The addition of ubiquitin to proteins being degraded is performed by a reaction cascade consisting of three enzymes, named E1 (ubiquitin activating enzyme), E2 (ubiquitin conjugating enzyme), and E3 (ubiquitin ligase). Each E3 has specificity to its substrate, or proteins to be targeted by ubiquitination. Many E3s are discovered in eukaryotes and they are classified into four types: HECT type, U-box type, single RING-finger type, and multi-subunit RING-finger type. Multi-subunit RING-finger E3s are exemplified by cullin-Rbx E3s and APC/C. They consist of a RING-finger-containing subunit (RBX1 or RBX2) that functions to bind E2s, a scaffold-like cullin molecule, adaptor proteins, and a target recognizing subunit that binds substrates. More... |
Genes shared at least 5 GO terms with NEDD4L (count: 110)
Genes shared at least 2 KEGG pathways with NEDD4L (count: 2)
| Gene Symbol | Pathway Count | Pathway List |
|---|---|---|
| CBL | 2 | Endocytosis; Ubiquitin mediated proteolysis; |
| WWP1 | 2 | Endocytosis; Ubiquitin mediated proteolysis; |
View in gBrowse
Region: chr18:55711619..56068772 View in gBrowse
Copyright: Bioinformatics Lab, Institute of Psychology, Chinese Academy of Sciences Feedback
Last update: Feb 26, 2014