ADHDgene Database

Hot Results

Quick Search

Keyword:
Type:

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	SLC4A2
Previous Symbol	EPB3L1, AE2
Symbol Alias	HKB3, BND3L, NBND3
Approved Name	solute carrier family 4, anion exchanger, member 2 (erythrocyte membrane protein band 3-like 1)
Name Alias	anion exchanger 2 type a, "anion exchanger 2 type b1", "anion exchanger 2 type b2"
Location	7q35-q36
Position	chr7:150754297-150773614, +
External Links	HGNC: 11028 Entrez Gene: 6522 Ensembl: ENSG00000164889 UCSC: uc003wit.3
No. of Studies	0 (significant: 0; non-significant: 0; trend: 0)
Source	Mapped by LD-proxy; Mapped by literature SNP

Gene related studies (count: 0)

Gene related SNPs (count: 3)

Literature-origin SNPs (count: 1)

rs_ID	Location	Functional Annotation	No. of Studies (significant/non-significant/trend)
rs2288648	Chr7:150774308(Fwd)	3_prime_UTR_variant; downstream_gene_variant; missense_variant; nc_transcript_variant; non_coding_exon_variant; upstream_gene_variant	1(0/1/0)

LD-proxies (count: 2)

rs_ID	Location	Functional Annotation
rs2303940	Chr7:150773165(Fwd)	downstream_gene_variant; nc_transcript_variant; non_coding_exon_variant; synonymous_variant
rs2303941	Chr7:150773287(Fwd)	downstream_gene_variant; intron_variant; nc_transcript_variant; non_coding_exon_variant

Gene related CNVs (count: 0)

Gene related other variant (count: 0)

Gene related regions (count: 0)

Gene related GO terms (count: 11)

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

GO terms by database search (count: 11)

ID	Name	Type	Evidence[PMID]	No. of Genes in ADHDgene
GO:0006811	ion transport	Biological Process		25
GO:0006820	anion transport	Biological Process	TAS[3015590]	1
GO:0008509	anion transmembrane transporter activity	Molecular Function	TAS[3015590]	2
GO:0015108	chloride transmembrane transporter activity	Molecular Function		1
GO:0015701	bicarbonate transport	Biological Process		8
GO:0016020	membrane	Cellular Component	TAS[3015590]	139
GO:0016021	integral to membrane	Cellular Component		845
GO:0016323	basolateral plasma membrane	Cellular Component		29
GO:0055085	transmembrane transport	Biological Process		82
GO:0005886	plasma membrane	Cellular Component		772
GO:0005452	inorganic anion exchanger activity	Molecular Function		6

Gene related KEGG pathways (count: 4)

ID	Name	No. of Genes in ADHDgene	Brief Description
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...
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...
hsa04970	Salivary secretion	22	Saliva has manifold functions in maintaining the integrity o...... Saliva has manifold functions in maintaining the integrity of the oral tissues, in protecting teeth from caries, in the tasting and ingestion of food, in speech and in the tolerance of tenures, for example. Salivary secretion occurs in response to stimulation by neurotransmitters released from autonomic nerve endings. There are two secretory pathways: protein exocytosis and fluid secretion. Sympathetic stimulation leads to the activation of adenylate cyclase and accumulation of intracellular cAMP. The elevation of cAMP causes the secretion of proteins such as amylase and mucin. In contrast, parasympathetic stimulation activates phospholipase C and causes the elevation of intracellular Ca2+, which leads to fluid secretion; that is, water and ion transport. Ca2+ also induces amylase secretion, but the amount is smaller than that induced by cAMP. 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...

Genes shared at least 5 GO terms with SLC4A2 (count: 4)

Gene Symbol	Pathway Count	Pathway List
SLC4A3	6	ion transport; bicarbonate transport; membrane; transmembrane transport; plasma membrane; inorganic anion exchanger activity;
SLC12A6	5	ion transport; integral to membrane; basolateral plasma membrane; transmembrane transport; plasma membrane;
SLC1A3	5	ion transport; membrane; integral to membrane; transmembrane transport; plasma membrane;
SLC22A8	5	integral to membrane; basolateral plasma membrane; transmembrane transport; plasma membrane; inorganic anion exchanger activity;

Genes shared at least 2 KEGG pathways with SLC4A2 (count: 11)

Gene Symbol	Pathway Count	Pathway List
ADCY4	4	Pancreatic secretion; Bile secretion; Salivary secretion; Gastric acid secretion;
CA2	3	Pancreatic secretion; Bile secretion; Gastric acid secretion;
CHRM3	3	Pancreatic secretion; Salivary secretion; Gastric acid secretion;
FXYD2	3	Pancreatic secretion; Bile secretion; Salivary secretion;
ITPR1	3	Pancreatic secretion; Salivary secretion; Gastric acid secretion;
ITPR2	3	Pancreatic secretion; Salivary secretion; Gastric acid secretion;
PLCB2	3	Pancreatic secretion; Salivary secretion; Gastric acid secretion;
PLCB3	3	Pancreatic secretion; Salivary secretion; Gastric acid secretion;
PRKCB	3	Pancreatic secretion; Salivary secretion; Gastric acid secretion;
ATP2B3	2	Pancreatic secretion; Salivary secretion;
SCTR	2	Pancreatic secretion; Bile secretion;

View in gBrowse

Region: chr7:150754297..150773614 View in gBrowse