| Type | Description |
|---|---|
| Definition | chloride voltage-gated channel Kb |
| Date | Results | Publications |
|---|---|---|
| 2020-01-04 10:30:00 | Nine variants in the chloride voltagegated channel Kb (CLCNKB) gene were detected, including eight sequence variants and one whole CLCNKB gene deletion. One sequence variant (c.1967T>C) was novel, whereas the remaining variants (c.595G>T, c.908A>C, c.1004T>C, c.1312C>T, c.1334_1335delCT and c.1718C>A) and the whole gene deletion had been previously reported. | 31115572 |
| 2019-12-07 10:09:00 | Bartter syndrome (BS) is a rare autosomal recessive disorder of salt reabsorption at the thick ascending limb of the Henle loop, characterized by hypokalemia, salt loss, metabolic alkalosis, hyperreninemic hyperaldosteronism with normal blood pressure. BS type III, often known as classic BS (CBS), is caused by loss-of-function mutations in CLCNKB (chloride voltage-gated channel Kb) encoding basolateral ClC-Kb. | 31409296 |
| 2019-09-07 10:29:00 | results suggested that the compound defective mutations of the CLCNKB gene are the molecular mechanism of the two classic Bartter syndrome siblings | 29442545 |
| 2018-05-12 11:19:00 | Taking advantage of the largest number of functional results of CLCNKB mutations, we reveal the functionally important domains and severe mutational spots of the hClC-Kb channel and establish the genotype-phenotype association in classic Bartter's Syndrome. | 28555925 |
| 2016-10-22 10:47:00 | Five patients had 1 or more mutations in CLCNKB, of whom 3 had homozygous mutations and 2 had single heterozygous mutations and only in CLCNKB had hypocalciuria. | 26770037 |
| Type | IDs |
|---|---|
| Synonymous | CLCKB, ClC-K2, ClC-Kb |
| Gene |
UniProtKB-ID:
CLCKB_HUMAN,
A8K8H0_HUMAN
UniprotKB:
P51801,
A8K8H0
UniParc:
UPI000046FF10,
UPI0000127996,
UPI000040E261
EMBL:
AK292335,
AK098217,
AL355994,
U93879,
Z30644,
S80315
Ensembl:
ENSG00000184908
KO:
hsa:1188
|
| Nucleutide sequences |
EMBL-CDS:
AAB65149.1,
BAG53595.1,
AAB35898.1,
CAA83121.1,
BAF85024.1
Ensembl_TRS:
ENST00000375667,
ENST00000375679
|
| Protein sequencees |
Ensembl_PRO:
ENSP00000364819,
ENSP00000364831
RefSeq:
NP_000076.2,
NP_001159417.2
|
| Others |
UniRef100:
UniRef100_A8K8H0,
UniRef100_P51801
UniRef90:
UniRef90_P51801
UniRef50:
UniRef50_P51800
UniGene:
Hs.352243
CCDS:
CCDS57974.1,
CCDS168.1
|
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|---|---|---|---|---|---|---|---|---|
| Refseq |
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