CLCNKB
entrez
1188
canonical
uniprot
P51801
canonical
ensembl
ENSG00000184908
resolver
ensp
ENSP00000364819
resolver
ensp
ENSP00000364831
resolver
genesymbol
CLCNKB
resolver
hgnc
HGNC:2027
resolver
uniprot
A8K8H0
resolver
uniprot
B3KUY3
resolver
uniprot
Q5T5Q7
resolver
uniprot
Q5T5Q8
resolver
uniprot_entry
A8K8H0_HUMAN
resolver
uniprot_entry
CLCKB_HUMAN
resolver
uniprot_sec
B3KUY3
resolver
uniprot_sec
Q5T5Q7
resolver
uniprot_sec
Q5T5Q8
resolver
activity_regulation
ACTIVITY REGULATION: Activated by extracellular Ca(2+) and inhibited by extracellular acidic pH. {ECO:0000269|PubMed:11734858}.
uniprot
proteins
amino_acid_sequence
MEEFVGLREGSSGNPVTLQELWGPCPRIRRGIRGGLEWLKQKLFRLGEDWYFLMTLGVLMALVSCAMDLAVESVVRAHQWLYREIGDSHLLRYLSWTVYPVALVSFSSGFSQSITPSSGGSGIPEVKTMLAGVVLEDYLDIKNFGAKVVGLSCTLACGSTLFLGKVGPFVHLSVMMAAYLGRVRTTTIGEPENKSKQNEMLVAAAAVGVATVFAAPFSGVLFSIEVMSSHFSVWDYWRGFFAATCGAFMFRLLAVFNSEQETITSLYKTSFRVDVPFDLPEIFFFVALGGLCGILGSAYLFCQRIFFGFIRNNRFSSKLLATSKPVYSALATLVLASITYPPSAGRFLASRLSMKQHLDSLFDNHSWALMTQNSSPPWPEELDPQHLWWEWYHPRFTIFGTLAFFLVMKFWMLILATTIPMPAGYFMPIFVYGAAIGRLFGETLSFIFPEGIVAGGITNPIMPGGYALAGAAAFSGAVTHTISTALLAFEVTGQIVHALPVLMAVLAANAIAQSCQPSFYDGTVIVKKLPYLPRILGRNIGSHRVRVEHFMNHSITTLAKDMPLEEVVKVVTSTDVAKYPLVESTESQILVGIVRRAQLVQALKAEPPSWAPGHQQCLQDILAAGCPTEPVTLKLSPETSLHEAHNLFELLNLHSLFVTSRGRAVGCVSWVEMKKAISNLTNPPAPK
uniprot
proteins
disease_involvement
DISEASE: Bartter syndrome 3 (BARTS3) [MIM:607364]: A form of Bartter syndrome, an autosomal recessive disorder characterized by impaired salt reabsorption in the thick ascending loop of Henle with pronounced salt wasting, hypokalemic metabolic alkalosis, and varying degrees of hypercalciuria. {ECO:0000269|PubMed:10906158, ECO:0000269|PubMed:11734858, ECO:0000269|PubMed:9326936}. Note=The disease is caused by variants affecting the gene represented in this entry.; DISEASE: Bartter syndrome 4B, neonatal, with sensorineural deafness (BARTS4B) [MIM:613090]: A digenic form of Bartter syndrome, an autosomal recessive disorder characterized by impaired salt reabsorption in the thick ascending loop of Henle with pronounced salt wasting, hypokalemic metabolic alkalosis, and varying degrees of hypercalciuria. BARTS4B is associated with sensorineural deafness. {ECO:0000269|PubMed:15044642, ECO:0000269|PubMed:18310267}. Note=The disease is caused by variants affecting distinct genetic loci, including the gene represented in this entry. Loss-of-function of both CLCNKA and CLCNKB results in the disease phenotype (PubMed:18310267). {ECO:0000269|PubMed:18310267}.
uniprot
proteins
function
FUNCTION: Anion-selective channel permeable to small monovalent anions with ion selectivity for chloride > bromide > nitrate > iodide (PubMed:11734858, PubMed:12111250). Forms a homodimeric channel where each subunit has its own ion conduction pathway. May conduct double-barreled currents controlled by two types of gates, two fast gates that control each subunit independently and a slow common gate that opens and shuts off both subunits simultaneously (PubMed:11734858, PubMed:12111250, PubMed:16849430, PubMed:18776122, PubMed:19646679). Assembles with the regulatory subunit BSND/Barttin for sorting at the basolateral plasma membrane domain and functional switch to the ion conducting state. CLCNKB:BSND channels display mostly a linear current-voltage relationship controlled by common gate (PubMed:11734858, PubMed:12111250, PubMed:16849430, PubMed:18776122, PubMed:19646679). Mediates chloride conductance along nephron segments, namely the thick ascending limb of Henle's loop, convoluted tubule and the collecting duct, contributing to the maintenance of systemic acid-base and electrolyte homeostasis (By similarity). Conducts chloride currents in the stria vascularis of the inner ear to establish the endocochlear potential necessary for normal hearing (PubMed:15044642, PubMed:18310267, PubMed:19646679). {ECO:0000250|UniProtKB:Q9WUB6, ECO:0000269|PubMed:11734858, ECO:0000269|PubMed:12111250, ECO:0000269|PubMed:15044642, ECO:0000269|PubMed:16849430, ECO:0000269|PubMed:18310267, ECO:0000269|PubMed:18776122, ECO:0000269|PubMed:19646679}.
uniprot
proteins
mass_dalton
75446
uniprot
proteins
post_translational_modification
PTM: N-glycosylated. {ECO:0000269|PubMed:18776122}.
uniprot
proteins
protein_family
CLCNKB subfamily
uniprot
proteins
protein_family
Chloride channel (TC 2.A.49) family
uniprot
proteins
pubmed
10906158
uniprot
proteins
pubmed
11734858
uniprot
proteins
pubmed
12111250
uniprot
proteins
pubmed
14702039
uniprot
proteins
pubmed
15044642
uniprot
proteins
pubmed
16710414
uniprot
proteins
pubmed
16849430
uniprot
proteins
pubmed
18310267
uniprot
proteins
pubmed
18776122
uniprot
proteins
pubmed
19646679
uniprot
proteins
pubmed
8041726
uniprot
proteins
pubmed
8544406
uniprot
proteins
pubmed
9326936
uniprot
proteins
sequence_length
687
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Basolateral cell membrane {ECO:0000269|PubMed:18776122}; Multi-pass membrane protein {ECO:0000255}.
uniprot
proteins
transmembrane_region
TRANSMEM 51..82; /note="Helical"; /evidence="ECO:0000250|UniProtKB:P35523"; TRANSMEM 91..111; /note="Helical"; /evidence="ECO:0000250|UniProtKB:P35523"; TRANSMEM 141..160; /note="Helical"; /evidence="ECO:0000250|UniProtKB:P35523"; TRANSMEM 161..180; /note="Helical"; /evidence="ECO:0000250|UniProtKB:P35523"; TRANSMEM 236..255; /note="Helical"; /evidence="ECO:0000250|UniProtKB:P35523"; TRANSMEM 282..310; /note="Helical"; /evidence="ECO:0000250|UniProtKB:P35523"; TRANSMEM 325..342; /note="Helical"; /evidence="ECO:0000250|UniProtKB:P35523"; TRANSMEM 400..420; /note="Helical"; /evidence="ECO:0000250|UniProtKB:P35523"; TRANSMEM 421..440; /note="Helical"; /evidence="ECO:0000250|UniProtKB:P35523"; TRANSMEM 500..520; /note="Helical"; /evidence="ECO:0000250|UniProtKB:P35523
uniprot
proteins