Ignet

Gene Information

Gene symbol: CLCNKB

Gene name: chloride channel, voltage-sensitive Kb

HGNC ID: 2027

Synonyms: hClC-Kb

Related Genes

#	Gene Symbol	Number of hits
1	APOB	1 hits
2	AVP	1 hits
3	BSND	1 hits
4	CASR	1 hits
5	CAST	1 hits
6	CFH	1 hits
7	CLC	1 hits
8	CLCN5	1 hits
9	CLCNKA	1 hits
10	CTNS	1 hits
11	GHR	1 hits
12	GYS1	1 hits
13	IKBKAP	1 hits
14	KCNE1	1 hits
15	KCNJ1	1 hits
16	KCNJ11	1 hits
17	KCNQ1	1 hits
18	LIPC	1 hits
19	LPL	1 hits
20	P2RY2	1 hits
21	PON2	1 hits
22	SGK1	1 hits
23	SLC12A1	1 hits
24	SLC4A1	1 hits
25	TRH	1 hits
26	VWF	1 hits

Related Sentences

#	PMID	Sentence
1	10831588	Genetic evidence suggests their involvement in transepithelial transport of chloride in distal nephron segments; ClC-K1 gene deletion leads to nephrogenic diabetes insipidus in mice, and mutations of the hClC-Kb gene cause Bartter's syndrome type III in humans.
2	11053039	Among eight mammalian CLC chloride channels expressed in the kidney, three (CLC-K1, CLC-K2, and CLC-5) were identified to be related to kidney diseases in humans or mice.
3	11053039	CLC-K2 is a basolateral chloride channel in distal nephron segments and is necessary for chloride reabsorption.
4	11053039	Among eight mammalian CLC chloride channels expressed in the kidney, three (CLC-K1, CLC-K2, and CLC-5) were identified to be related to kidney diseases in humans or mice.
5	11053039	CLC-K2 is a basolateral chloride channel in distal nephron segments and is necessary for chloride reabsorption.
6	14569156	Intracellular membrane Cl- channels are important for acidification of intracellular vesicles: ClC-5 functions for re-absorption of low-molecular-weight proteins in renal proximal tubule, and ClC-7 for absorption of bone matrix by osteoclasts.
7	14569156	Plasma membrane Cl- channels, ClC-K1, ClC-K2, and ClC-3B, are expressed predominantly in epithelial cells and are important for uni-directional Cl- transport across the epithelia.
8	14569156	Abnormalities of these channels are also related to human diseases: abnormal ClC-K1 to diabetes insipidus and abnormal ClC-K2 to Bartter's syndrome.
9	14569156	Intracellular membrane Cl- channels are important for acidification of intracellular vesicles: ClC-5 functions for re-absorption of low-molecular-weight proteins in renal proximal tubule, and ClC-7 for absorption of bone matrix by osteoclasts.
10	14569156	Plasma membrane Cl- channels, ClC-K1, ClC-K2, and ClC-3B, are expressed predominantly in epithelial cells and are important for uni-directional Cl- transport across the epithelia.
11	14569156	Abnormalities of these channels are also related to human diseases: abnormal ClC-K1 to diabetes insipidus and abnormal ClC-K2 to Bartter's syndrome.
12	15067902	It is related to mutations affecting several transporters in the loop of Henle e.g. the Na-K-2Cl cotransporter, the chloride channel CLC-NKB and the potassium channel ROMK.
13	15252040	Mild nephrogenic diabetes insipidus caused by Foxa1 deficiency.
14	15252040	Mutations of the human genes encoding the vasopressin 2 receptor and aquaporin 2 cause nephrogenic diabetes insipidus; however, expression of these genes is maintained or increased, respectively, in Foxa1(-/-) mice.
15	15252040	Likewise, expression of the genes encoding the Na-K-2Cl cotransporter (NKCC2), the potassium channel ROMK, the chloride channel CLCNKB, barttin (BSND), and the calcium-sensing receptor (CASR), each of which is important in sodium reabsorption in the loop of Henle, is maintained or even increased in Foxa1-deficient mice.
16	15252040	Thus, we have shown that Foxa1(-/-) mice represent a new model of nephrogenic diabetes insipidus with unique molecular etiology, and we have identified the first transcription factor whose mutation leads to a defect in renal water homeostasis in vivo.
17	16093448	The identification, characterization, and mutational analysis of three different genes-the arginine vasopressin gene (AVP), the arginine vasopressin receptor 2 gene (AVPR2), and the vasopressin-sensitive water channel gene (aquaporin 2 [AQP2])-provide the basis for understanding of three different hereditary forms of "pure" diabetes insipidus: Neurohypophyseal diabetes insipidus, X-linked nephrogenic diabetes insipidus (NDI), and non-X-linked NDI, respectively.
18	16093448	Patients who have congenital NDI and bear mutations in the AVPR2 or AQP2 genes have a "pure" NDI phenotype with loss of water but normal conservation of sodium, potassium, chloride, and calcium.
19	16093448	Patients who bear inactivating mutations in genes (SLC12A1, KCNJ1, CLCNKB, CLCNKA and CLCNKB in combination, or BSND) that encode the membrane proteins of the thick ascending limb of the loop of Henle have a complex polyuro-polydipsic syndrome with loss of water, sodium, chloride, calcium, magnesium, and potassium.
20	16713495	Patients with hereditary NDI bearing mutations in AVPR2, the gene coding for the arginine vasopressin 2 receptor, or in AQP2, the gene coding for the vasopressin-sensitive water channel, have a pure NDI phenotype with loss of water, but normal conservation of sodium, potassium, chloride, and calcium.
21	16713495	Patients bearing inactivating mutations in 1 of the 5 genes (SLC12A1, KCNJ1, CLCNKB, CLCNKA, and CLCNKB in combination, or BSND) that encode the membrane proteins of the thick ascending limb of the loop of Henle have a complex polyuro-polydipsic syndrome with loss of water, sodium, chloride, calcium, magnesium, and potassium.
22	17137217	Analyses of covariance adjusting for age, body mass index, hyperlipidemia, diabetes, smoking, drinking, and antihypertensive medication revealed that 17 polymorphisms in 16 genes (APOB, CAST, CLCNKB, CTNS, GHR, GYS1, HF1, IKBKAP, KCNJ11, LIPC, LPL, P2RY2, PON2, SLC4A1, TRH, VWF) were significantly associated with blood pressure variations.
23	17137217	Multivariate logistic regression analysis with adjustment for the same factors revealed that 11 polymorphisms in 11 genes (CAST, CTLA4, F5, GC, GHR, LIPC, PLA2G7, SLC4A1, SLCI8A1, TRH, VWF) showed significant associations with hypertension.
24	17137217	Five polymorphisms in five genes, CAST(calpastatin), LIPC (hepatic lipase), SLC4A1 (band 3 anion transporter), TRH (thyrotropin-releasing hormone), and VWF (von Willebrand factor), were significantly associated with both blood pressure variation and hypertension.
25	18094726	Mechanisms of Disease: the kidney-specific chloride channels ClCKA and ClCKB, the Barttin subunit, and their clinical relevance.
26	18094726	Rodent ClC-K1 and ClC-K2, and their respective human orthologs ClCKA and ClCKB, are chloride channels specific to the kidney (and inner ear); Barttin is their functionally important subunit.
27	18094726	Expression of ClC-K1 is upregulated by dehydration and downregulated by the diuretic furosemide, whereas expression of ClC-K2 is upregulated by furosemide and downregulated by high salt levels.
28	18094726	If its ortholog, ClC-K1, is nonfunctional in mice, renal diabetes insipidus develops.
29	18094726	Disruption of the gene encoding Barttin, BSND, results in a 'double knockout' of the functions of both ClCKA and ClCKB, manifesting as Bartter syndrome type IV with sensorineural deafness and an especially severe salt-losing phenotype.
30	18094726	Mechanisms of Disease: the kidney-specific chloride channels ClCKA and ClCKB, the Barttin subunit, and their clinical relevance.
31	18094726	Rodent ClC-K1 and ClC-K2, and their respective human orthologs ClCKA and ClCKB, are chloride channels specific to the kidney (and inner ear); Barttin is their functionally important subunit.
32	18094726	Expression of ClC-K1 is upregulated by dehydration and downregulated by the diuretic furosemide, whereas expression of ClC-K2 is upregulated by furosemide and downregulated by high salt levels.
33	18094726	If its ortholog, ClC-K1, is nonfunctional in mice, renal diabetes insipidus develops.
34	18094726	Disruption of the gene encoding Barttin, BSND, results in a 'double knockout' of the functions of both ClCKA and ClCKB, manifesting as Bartter syndrome type IV with sensorineural deafness and an especially severe salt-losing phenotype.
35	18094726	Mechanisms of Disease: the kidney-specific chloride channels ClCKA and ClCKB, the Barttin subunit, and their clinical relevance.
36	18094726	Rodent ClC-K1 and ClC-K2, and their respective human orthologs ClCKA and ClCKB, are chloride channels specific to the kidney (and inner ear); Barttin is their functionally important subunit.
37	18094726	Expression of ClC-K1 is upregulated by dehydration and downregulated by the diuretic furosemide, whereas expression of ClC-K2 is upregulated by furosemide and downregulated by high salt levels.
38	18094726	If its ortholog, ClC-K1, is nonfunctional in mice, renal diabetes insipidus develops.
39	18094726	Disruption of the gene encoding Barttin, BSND, results in a 'double knockout' of the functions of both ClCKA and ClCKB, manifesting as Bartter syndrome type IV with sensorineural deafness and an especially severe salt-losing phenotype.
40	18094726	Mechanisms of Disease: the kidney-specific chloride channels ClCKA and ClCKB, the Barttin subunit, and their clinical relevance.
41	18094726	Rodent ClC-K1 and ClC-K2, and their respective human orthologs ClCKA and ClCKB, are chloride channels specific to the kidney (and inner ear); Barttin is their functionally important subunit.
42	18094726	Expression of ClC-K1 is upregulated by dehydration and downregulated by the diuretic furosemide, whereas expression of ClC-K2 is upregulated by furosemide and downregulated by high salt levels.
43	18094726	If its ortholog, ClC-K1, is nonfunctional in mice, renal diabetes insipidus develops.
44	18094726	Disruption of the gene encoding Barttin, BSND, results in a 'double knockout' of the functions of both ClCKA and ClCKB, manifesting as Bartter syndrome type IV with sensorineural deafness and an especially severe salt-losing phenotype.
45	21170869	It is activated by insulin and growth factors via phosphatidylinositol-3-kinase and the 3-phosphoinositide-dependent kinase PDK1.
46	21170869	SGK1 enhances the activity of a variety of ion channels such as ENaC, TRPV5, ROMK, KCNE1/KCNQ1 and ClCKb; carriers such as NHE3, NKCC2, NCC and SGLT1; as well as the Na+/K+-ATPase.
47	21170869	Thus, SGK1 may participate in the pathogenesis of metabolic syndrome or syndrome X, a condition characterized by the coincidence of essential hypertension, procoagulant state, obesity, insulin resistance and hyperinsulinemia.