ADHDgene Database

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Large-scale studies

Data Summary

Published Variant
- SNP: 1391
- CNV: 398
- Others: 173
Published Gene: 359
Published Region: 128
Pathway by PBA: 8
Study: 361

Detail ...

Gene Report

Basic Info

Approved Symbol	AQP4
Symbol Alias	MIWC
Approved Name	aquaporin 4
Location	18q11.2-q12.1
Position	chr18:24432002-24445749, -
External Links	HGNC: 637 Entrez Gene: 361 Ensembl: ENSG00000171885 UCSC: uc002kwa.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)
18q11.2-12.3	chr18:19000000-43500000	1 (1/0/0)

Gene related GO terms (count: 27)

GO terms by PBA (with statistical significance of FDR<0.05) (count: 0)

GO terms by database search (count: 27)

ID	Name	Type	Evidence[PMID]	No. of Genes in ADHDgene
GO:0005737	cytoplasm	Cellular Component	IDA[18392839]	690
GO:0005372	water transmembrane transporter activity	Molecular Function	TAS[7559426]	2
GO:0005887	integral to plasma membrane	Cellular Component		220
GO:0005886	plasma membrane	Cellular Component	IDA[16814974]	772
GO:0006810	transport	Biological Process	TAS[7559426]	62
GO:0005911	cell-cell junction	Cellular Component		20
GO:0007399	nervous system development	Biological Process	TAS[7528931]	54
GO:0006833	water transport	Biological Process		6
GO:0007588	excretion	Biological Process	TAS[7528931]	10
GO:0007565	female pregnancy	Biological Process		14
GO:0009314	response to radiation	Biological Process		5
GO:0007605	sensory perception of sound	Biological Process		31
GO:0015250	water channel activity	Molecular Function		1
GO:0009897	external side of plasma membrane	Cellular Component	IDA[17645239]	34
GO:0016323	basolateral plasma membrane	Cellular Component		29
GO:0030315	T-tubule	Cellular Component		12
GO:0015288	porin activity	Molecular Function		1
GO:0015670	carbon dioxide transport	Biological Process		2
GO:0050891	multicellular organismal water homeostasis	Biological Process	IEP[16814974]	1
GO:0051260	protein homooligomerization	Biological Process		34
GO:0042538	hyperosmotic salinity response	Biological Process		2
GO:0043234	protein complex	Cellular Component		45
GO:0070295	renal water absorption	Biological Process		1
GO:0071346	cellular response to interferon-gamma	Biological Process	IDA[17645239]	3
GO:0051384	response to glucocorticoid stimulus	Biological Process		17
GO:0055085	transmembrane transport	Biological Process		82
GO:0071392	cellular response to estradiol stimulus	Biological Process		1

Gene related KEGG pathways (count: 2)

ID	Name	No. of Genes in ADHDgene	Brief Description
hsa04962	Vasopressin-regulated water reabsorption	6	In the kidney, the antidiuretic hormone vasopressin (AVP) is...... 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. More...
hsa04976	Bile secretion	13	Bile is a vital secretion, essential for digestion and absor...... Bile is a vital secretion, essential for digestion and absorption of fats and fat-soluble vitamins in the small intestine. Moreover, bile is an important route of elimination for excess cholesterol and many waste product, bilirubin, drugs and toxic compounds. Bile secretion depends on the function of membrane transport systems in hepatocytes and cholangiocytes and on the structural and functional integrity of the biliary tree. The hepatocytes generate the so-called primary bile in their canaliculi. Cholangiocytes modify the canalicular bile by secretory and reabsorptive processes as bile passes through the bile ducts. The main solutes in bile are bile acids, which stimulate bile secretion osmotically, as well as facilitate the intestinal absorption of dietary lipids by their detergent properties. Bile acids are also important signalling molecules. Through the activation of nuclear receptors, they regulate their own synthesis and transport rates. More...

Genes shared at least 5 GO terms with AQP4 (count: 8)

Gene Symbol	Pathway Count	Pathway List
ADRA2A	5	cytoplasm; integral to plasma membrane; plasma membrane; female pregnancy; basolateral plasma membrane;
FZD4	5	cytoplasm; integral to plasma membrane; plasma membrane; cell-cell junction; sensory perception of sound;
SLC6A3	5	cytoplasm; integral to plasma membrane; plasma membrane; transport; transmembrane transport;
SLCO1B3	5	cytoplasm; integral to plasma membrane; plasma membrane; basolateral plasma membrane; transmembrane transport;
GABRA5	5	integral to plasma membrane; plasma membrane; transport; sensory perception of sound; transmembrane transport;
GABRB3	5	integral to plasma membrane; plasma membrane; transport; sensory perception of sound; transmembrane transport;
SLC22A6	5	integral to plasma membrane; plasma membrane; basolateral plasma membrane; protein complex; transmembrane transport;
SLC6A1	5	integral to plasma membrane; plasma membrane; transport; protein homooligomerization; transmembrane transport;

Genes shared at least 2 KEGG pathways with AQP4 (count: 0)

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Region: chr18:24432002..24445749 View in gBrowse