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	CA2
Symbol Alias	Car2, CA-II, CAII
Approved Name	carbonic anhydrase II
Location	8q22
Position	chr8:86376081-86393721, +
External Links	HGNC: 1373 Entrez Gene: 760 Ensembl: ENSG00000104267 UCSC: uc003ydk.2
No. of Studies	0 (significant: 0; non-significant: 0; trend: 0)
Source	Mapped by CNV

Gene related studies (count: 0)

Gene related SNPs (count: 0)

Gene related CNVs (count: 1)

ID	Location	Size	Band	Type	Inheritance
CNV_Williams[2010]_6	chr8:85438801-88424995 (NCBI Build 36.1 (hg18))	2935186	8q21.2-8q21.3	Loss	Paternal

Gene related other variant (count: 0)

Gene related regions (count: 0)

Gene related GO terms (count: 24)

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

GO terms by database search (count: 24)

ID	Name	Type	Evidence[PMID]	No. of Genes in ADHDgene
GO:0002009	morphogenesis of an epithelium	Biological Process		1
GO:0001822	kidney development	Biological Process		16
GO:0005829	cytosol	Cellular Component		447
GO:0005737	cytoplasm	Cellular Component		690
GO:0005615	extracellular space	Cellular Component		126
GO:0004089	carbonate dehydratase activity	Molecular Function		5
GO:0008270	zinc ion binding	Molecular Function	IDA[3151020]	323
GO:0006950	response to stress	Biological Process		30
GO:0006730	one-carbon metabolic process	Biological Process		9
GO:0005902	microvillus	Cellular Component		8
GO:0015670	carbon dioxide transport	Biological Process		2
GO:0015701	bicarbonate transport	Biological Process		8
GO:0009268	response to pH	Biological Process		2
GO:0010043	response to zinc ion	Biological Process		6
GO:0032849	positive regulation of cellular pH reduction	Biological Process		1
GO:0042475	odontogenesis of dentin-containing tooth	Biological Process		8
GO:0016323	basolateral plasma membrane	Cellular Component		29
GO:0030424	axon	Cellular Component		35
GO:0045177	apical part of cell	Cellular Component	IDA[14675051]	12
GO:0045672	positive regulation of osteoclast differentiation	Biological Process		3
GO:0043627	response to estrogen stimulus	Biological Process		11
GO:0044281	small molecule metabolic process	Biological Process		248
GO:0045780	positive regulation of bone resorption	Biological Process		6
GO:0046903	secretion	Biological Process		1

Gene related KEGG pathways (count: 6)

ID	Name	No. of Genes in ADHDgene	Brief Description
hsa04964	Proximal tubule bicarbonate reclamation	2	One of the major tasks of the renal proximal tubule (PT) is ...... One of the major tasks of the renal proximal tubule (PT) is to secrete acid into the tubule lumen, thereby reabsorbing approximately 80% of the filtered bicarbonate (HCO3(-)), as well as generating "new HCO3(-)" for regulating blood pH. In the tubular lumen, filtered HCO3(-) combines with H(+) in a reaction catalyzed by CA IV. The CO2 thus produced rapidly diffuses into the tubular cells and is combined with water to produce intracellular H(+) and HCO3(-), catalyzed by soluble cytoplasmic CA II. HCO3(-) is then cotransported with Na(+) into blood via the NBC-1. The intracellular H(+) produced by CA II is secreted into the tubular lumen predominantly via the NHE-3. The PT creates the "new HCO3(-)" by taking glutamine and metabolizing it to two molecules each of NH4(+) and HCO3(-). The NH4(+) is excreted into the tubular lumen, and the HCO3(-) , which is "new HCO3(-) ," is returned to the blood, where it replaces the HCO3(-) lost earlier in the titration of nonvolatile acids. More...
hsa04972	Pancreatic secretion	30	The pancreas performs both exocrine and endocrine functions....... The pancreas performs both exocrine and endocrine functions. The exocrine pancreas consists of two parts, the acinar and duct cells. The primary functions of pancreatic acinar cells are to synthesize and secrete digestive enzymes. Stimulation of the cell by secretagogues such as acetylcholine (ACh) and cholecystokinin (CCK) causes the generation of an intracellular Ca2+ signal. This signal, in turn, triggers the fusion of the zymogen granules with the apical plasma membrane, leading to the polarised secretion of the enzymes. The major task of pancreatic duct cells is the secretion of fluid and bicarbonate ions (HCO3-), which neutralize the acidity of gastric contents that enter the duodenum. An increase in intracellular cAMP by secretin is one of the major signals of pancreatic HCO3- secretion. Activation of the CFTR Cl- channel and the CFTR-dependent Cl-/HCO3- exchange activities is responsible for cAMP-induced HCO3- secretion. More...
hsa04966	Collecting duct acid secretion	7	One of the important roles of the collecting duct segment of...... One of the important roles of the collecting duct segment of the kidney nephron is acid secretion. As daily food intake loads acid into the body, urinary acid excretion is essential, and urine pH can drop as low as 4.5. The alpha-intercalated cell of collecting duct is the main responsible for hydrogen secretion into the urine. The carbon dioxide, which is generated in the cells and enters from the blood, is changed to carbonic acid. This carbonic acid is divided into hydrogen ion and bicarbonate ion. Intracellular CA II catalyses the formation of these ions. The hydrogen ion is secreted into the lumen by the luminal H(+)-ATPase. The bicarbonate ion is transported to the blood side by the anion exchanger type 1. Hydrogen ion in the lumen is trapped by urinary buffers. These include ammonium and phosphate. 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...
hsa04971	Gastric acid secretion	12	Gastric acid is a key factor in normal upper gastrointestina...... Gastric acid is a key factor in normal upper gastrointestinal functions, including protein digestion and calcium and iron absorption, as well as providing some protection against bacterial infections. The principal stimulants of acid secretion at the level of the parietal cell are histamine (paracrine), gastrin (hormonal), and acetycholine (ACh; neurocrine). Stimulation of acid secretion typically involves an initial elevation of intracellular calcium and cAMP, followed by activation of protein kinase cascades, which trigger the translocation of the proton pump, H+,K+-ATPase, from cytoplasmic tubulovesicles to the apical plasma membrane and thereby H+ secretion into the stomach lumen. More...
hsa00910	Nitrogen metabolism	6

Genes shared at least 5 GO terms with CA2 (count: 5)

Gene Symbol	Pathway Count	Pathway List
CA1	7	cytosol; cytoplasm; carbonate dehydratase activity; zinc ion binding; one-carbon metabolic process; bicarbonate transport; small molecule metabolic process;
CA13	6	cytosol; carbonate dehydratase activity; zinc ion binding; one-carbon metabolic process; bicarbonate transport; small molecule metabolic process;
CA3	6	cytosol; carbonate dehydratase activity; zinc ion binding; one-carbon metabolic process; bicarbonate transport; small molecule metabolic process;
ARG1	5	cytosol; cytoplasm; extracellular space; response to zinc ion; small molecule metabolic process;
CA5A	5	carbonate dehydratase activity; zinc ion binding; one-carbon metabolic process; bicarbonate transport; small molecule metabolic process;

Genes shared at least 2 KEGG pathways with CA2 (count: 10)

Gene Symbol	Pathway Count	Pathway List
FXYD2	3	Proximal tubule bicarbonate reclamation; Pancreatic secretion; Bile secretion;
ADCY4	3	Pancreatic secretion; Bile secretion; Gastric acid secretion;
SLC4A2	3	Pancreatic secretion; Bile secretion; Gastric acid secretion;
CHRM3	2	Pancreatic secretion; Gastric acid secretion;
ITPR1	2	Pancreatic secretion; Gastric acid secretion;
ITPR2	2	Pancreatic secretion; Gastric acid secretion;
PLCB2	2	Pancreatic secretion; Gastric acid secretion;
PLCB3	2	Pancreatic secretion; Gastric acid secretion;
PRKCB	2	Pancreatic secretion; Gastric acid secretion;
SCTR	2	Pancreatic secretion; Bile secretion;

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Region: chr8:86376081..86393721 View in gBrowse