CLCNKB

Last updated
CLCNKB
Identifiers
Aliases CLCNKB , CLCKB, ClC-K2, ClC-Kb, chloride voltage-gated channel Kb
External IDs OMIM: 602023; MGI: 1329026; HomoloGene: 65; GeneCards: CLCNKB; OMA:CLCNKB - orthologs
Orthologs
SpeciesHumanMouse
Entrez
Ensembl
UniProt
RefSeq (mRNA)

NM_000085
NM_001165945

NM_001146307
NM_024412

RefSeq (protein)

NP_000076
NP_001159417

NP_001139779
NP_077723

Location (UCSC) Chr 1: 16.04 – 16.06 Mb Chr 4: 141.11 – 141.13 Mb
PubMed search [3] [4]
Wikidata
View/Edit Human View/Edit Mouse

Chloride channel Kb, also known as CLCNKB, is a protein which in humans is encoded by the CLCNKB gene. [5] [6]

Contents

Chloride channel Kb (CLCNKB) is a member of the CLC family of voltage-gated chloride channels, which comprises at least 9 mammalian chloride channels. [7] Each is believed to have 12 transmembrane domains and intracellular N and C termini. Mutations in CLCNKB result in the autosomal recessive Type III Bartter syndrome. [8] CLCNKA and CLCNKB are closely related (94% sequence identity), tightly linked (separated by 11 kb of genomic sequence) and are both expressed in mammalian kidney. [5]

See also

Related Research Articles

<span class="mw-page-title-main">Chloride channel</span> Class of transport proteins

Chloride channels are a superfamily of poorly understood ion channels specific for chloride. These channels may conduct many different ions, but are named for chloride because its concentration in vivo is much higher than other anions. Several families of voltage-gated channels and ligand-gated channels have been characterized in humans.

<span class="mw-page-title-main">Gitelman syndrome</span> Medical condition

Gitelman syndrome (GS) is an autosomal recessive kidney tubule disorder characterized by low blood levels of potassium and magnesium, decreased excretion of calcium in the urine, and elevated blood pH. It is the most frequent hereditary salt-losing tubulopathy. Gitelman syndrome is caused by disease-causing variants on both alleles of the SLC12A3 gene. The SLC12A3 gene encodes the thiazide-sensitive sodium-chloride cotransporter, which can be found in the distal convoluted tubule of the kidney.

<span class="mw-page-title-main">ROMK</span> Potassium channel

The renal outer medullary potassium channel (ROMK) is an ATP-dependent potassium channel (Kir1.1) that transports potassium out of cells. It plays an important role in potassium recycling in the thick ascending limb (TAL) and potassium secretion in the cortical collecting duct (CCD) of the nephron. In humans, ROMK is encoded by the KCNJ1 gene. Multiple transcript variants encoding different isoforms have been found for this gene.

<span class="mw-page-title-main">Bartter syndrome</span> Medical condition

Bartter syndrome (BS) is a rare inherited disease characterised by a defect in the thick ascending limb of the loop of Henle, which results in low potassium levels (hypokalemia), increased blood pH (alkalosis), and normal to low blood pressure. There are two types of Bartter syndrome: neonatal and classic. A closely associated disorder, Gitelman syndrome, is milder than both subtypes of Bartter syndrome.

Pseudohypoaldosteronism (PHA) is a condition that mimics hypoaldosteronism. Two major types of primary pseudohypoaldosteronism are recognized.

<span class="mw-page-title-main">Sodium-chloride symporter</span> Protein-coding gene in the species Homo sapiens

The sodium-chloride symporter (also known as Na+-Cl cotransporter, NCC or NCCT, or as the thiazide-sensitive Na+-Cl cotransporter or TSC) is a cotransporter in the kidney which has the function of reabsorbing sodium and chloride ions from the tubular fluid into the cells of the distal convoluted tubule of the nephron. It is a member of the SLC12 cotransporter family of electroneutral cation-coupled chloride cotransporters. In humans, it is encoded by the SLC12A3 gene (solute carrier family 12 member 3) located in 16q13.

<span class="mw-page-title-main">Pendrin</span> Anion exchange protein

Pendrin is an anion exchange protein that in humans is encoded by the SLC26A4 gene . Pendrin was initially identified as a sodium-independent chloride-iodide exchanger with subsequent studies showing that it also accepts formate and bicarbonate as substrates. Pendrin is similar to the Band 3 transport protein found in red blood cells. Pendrin is the protein which is mutated in Pendred syndrome, which is an autosomal recessive disorder characterized by sensorineural hearing loss, goiter and a partial organification problem detectable by a positive perchlorate test.

<span class="mw-page-title-main">Dent's disease</span> Medical condition

Dent's disease is a rare X-linked recessive inherited condition that affects the proximal renal tubules of the kidney. It is one cause of Fanconi syndrome, and is characterized by tubular proteinuria, excess calcium in the urine, formation of calcium kidney stones, nephrocalcinosis, and chronic kidney failure.

<span class="mw-page-title-main">CLCN1</span> Protein-coding gene in the species Homo sapiens

The CLCN family of voltage-dependent chloride channel genes comprises nine members which demonstrate quite diverse functional characteristics while sharing significant sequence homology. The protein encoded by this gene regulates the electric excitability of the skeletal muscle membrane. Mutations in this gene cause two forms of inherited human muscle disorders: recessive generalized myotonia congenita (Becker) and dominant myotonia (Thomsen).

<span class="mw-page-title-main">CLCN5</span> Mammalian protein found in humans

The CLCN5 gene encodes the chloride channel Cl-/H+ exchanger ClC-5. ClC-5 is mainly expressed in the kidney, in particular in proximal tubules where it participates to the uptake of albumin and low-molecular-weight proteins, which is one of the principal physiological role of proximal tubular cells. Mutations in the CLCN5 gene cause an X-linked recessive nephropathy named Dent disease characterized by excessive urinary loss of low-molecular-weight proteins and of calcium (hypercalciuria), nephrocalcinosis and nephrolithiasis.

<span class="mw-page-title-main">CLCN2</span> Protein-coding gene in the species Homo sapiens

Chloride channel protein 2 is a protein that in humans is encoded by the CLCN2 gene. Mutations of this gene have been found to cause leukoencephalopathy and Idiopathic generalised epilepsy, although the latter claim has been disputed. CLCN2 contains a transmembrane region that is involved in chloride ion transport as well two intracellular copies of the CBS domain.

<span class="mw-page-title-main">CLCN7</span> Protein-coding gene in the species Homo sapiens

Chloride channel 7 alpha subunit also known as H+/Cl exchange transporter 7 is a protein that in humans is encoded by the CLCN7 gene. In melanocytic cells this gene is regulated by the Microphthalmia-associated transcription factor.

<span class="mw-page-title-main">CLDN16</span> Protein-coding gene in the species Homo sapiens

Claudin-16 is a protein that in humans is encoded by the CLDN16 gene. It belongs to the group of claudins.

<span class="mw-page-title-main">WNK4</span> Protein-coding gene in the species Homo sapiens

Serine/threonine protein kinase WNK4 also known as WNK lysine deficient protein kinase 4 or WNK4, is an enzyme that in humans is encoded by the WNK4 gene. Missense mutations cause a genetic form of pseudohypoaldosteronism type 2, also called Gordon syndrome.

<span class="mw-page-title-main">CLCN6</span> Protein-coding gene in the species Homo sapiens

Chloride transport protein 6 is a protein that in humans is encoded by the CLCN6 gene.

<span class="mw-page-title-main">CLCNKA</span> Protein-coding gene in the species Homo sapiens

Chloride channel protein ClC-Ka is a protein that in humans is encoded by the CLCNKA gene. Multiple transcript variants encoding different isoforms have been found for this gene.

<span class="mw-page-title-main">BSND</span> Protein-coding gene in the species Homo sapiens

Bartter syndrome, infantile, with sensorineural deafness (Barttin), also known as BSND, is a human gene which is associated with Bartter syndrome.

<span class="mw-page-title-main">CLIC5</span> Protein-coding gene in the species Homo sapiens

Chloride intracellular channel protein 5 is a protein that in humans is encoded by the CLIC5 gene.

<span class="mw-page-title-main">ABCC9</span> Protein-coding gene in humans

ATP-binding cassette, sub-family C member 9 (ABCC9) also known as sulfonylurea receptor 2 (SUR2) is an ATP-binding cassette transporter that in humans is encoded by the ABCC9 gene.

<span class="mw-page-title-main">WNK3</span> Protein-coding gene in the species Homo sapiens

Serine/threonine-protein kinase WNK3, also known as protein kinase lysine-deficient 3, is a protein that in humans is encoded by the WNK3 gene.

References

  1. 1 2 3 GRCh38: Ensembl release 89: ENSG00000184908 Ensembl, May 2017
  2. 1 2 3 GRCm38: Ensembl release 89: ENSMUSG00000033770 Ensembl, May 2017
  3. "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  4. "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  5. 1 2 "Entrez Gene: CLCNKB chloride channel Kb".
  6. Saito-Ohara F, Uchida S, Takeuchi Y, Sasaki S, Hayashi A, Marumo F, Ikeuchi T (September 1996). "Assignment of the genes encoding the human chloride channels, CLCNKA and CLCNKB, to 1p36 and of CLCN3 to 4q32-q33 by in situ hybridization". Genomics. 36 (2): 372–4. doi:10.1006/geno.1996.0479. PMID   8812470.
  7. Jentsch TJ, Günther W (February 1997). "Chloride channels: an emerging molecular picture". BioEssays. 19 (2): 117–26. doi:10.1002/bies.950190206. PMID   9046241. S2CID   19904492.
  8. Krämer BK, Bergler T, Stoelcker B, Waldegger S (January 2008). "Mechanisms of Disease: the kidney-specific chloride channels ClCKA and ClCKB, the Barttin subunit, and their clinical relevance". Nat Clin Pract Nephrol. 4 (1): 38–46. doi:10.1038/ncpneph0689. PMID   18094726. S2CID   25570342.

Further reading

This article incorporates text from the United States National Library of Medicine, which is in the public domain.