ADHDgene Database
  • Published Variant
  • Published Gene: 359
  • Published Region: 128
  • Pathway by PBA: 8
  • Study: 361

KEGG Pathway Report

Basic Info
ID hsa04962
Name Vasopressin-regulated water reabsorption
Description  In the kidney, the antidiuretic hormone vasopressin (AVP) is a critical regulator of water homeostasis by controlling the water movement from lumen to the interstitium for water reabsorption and adjusting the urinary water excretion. In normal physiology, AVP is secreted into the circulation by the posterior pituitary gland, in response to an increase in serum osmolality or a decrease in effective circulating volume. When reaching the kidney, AVP binds to V2 receptors on the basolateral surface of the collecting duct epithelium, triggering a G-protein-linked signaling cascade, which leads to water channel aquaporin-2 (AQP2) vesicle insertion into the apical plasma membrane. This results in higher water permeability in the collecting duct and, driven by an osmotic gradient, pro-urinary water then passes the membrane through AQP2 and leaves the cell on the basolateral side via AQP3 and AQP4 water channels, which are constitutively expressed on the basolateral side of these cells. When isotonicity is restored, reduced blood AVP levels results in AQP2 internalization, leaving the apical membrane watertight again.
No. of Genes in ADHDgene  6
Source Pathway by Database Search

Pathway related genes in ADHDgene (count: 6)

Literature-origin genes (count: 2)

Approved Symbol Approved Name Location No. of Studies (significant/non-significant/trend)
CREB5 cAMP responsive element binding protein 5 7p15 1(0/0/1)
VAMP2 vesicle-associated membrane protein 2 (synaptobrevin 2) 17pter-p12 2(0/2/0)

Genes from other sources Help(count: 4)

Approved Symbol Approved Name Location Source
AQP4 aquaporin 4 18q11.2-q12.1 Mapped by significant region
DYNC2H1 dynein, cytoplasmic 2, heavy chain 1 11q21-q22.1 Mapped by LD-proxy; Mapped by significant region
DCTN5 dynactin 5 (p25) 16p12.1 Mapped by significant region
STX4 syntaxin 4 16p11.2 Mapped by CNV