CLCN2

Last updated
CLCN2
Identifiers
Aliases CLCN2 , CIC-2, CLC2, ECA2, ECA3, EGI11, EGI3, EGMA, EJM6, EJM8, LKPAT, clC-2, chloride voltage-gated channel 2, HALD2
External IDs OMIM: 600570; MGI: 105061; HomoloGene: 3213; GeneCards: CLCN2; OMA:CLCN2 - orthologs
Orthologs
SpeciesHumanMouse
Entrez

1181

12724

Ensembl

ENSG00000114859

ENSMUSG00000022843

UniProt

P51788

Q9R0A1

RefSeq (mRNA)

NM_001171087
NM_001171088
NM_001171089
NM_004366

NM_009900

RefSeq (protein)

NP_001164558
NP_001164559
NP_001164560
NP_004357

NP_034030

Location (UCSC) Chr 3: 184.35 – 184.36 Mb Chr 16: 20.52 – 20.54 Mb
PubMed search [3] [4]
Wikidata
View/Edit Human View/Edit Mouse

Chloride channel protein 2 is a protein that in humans is encoded by the CLCN2 gene. [5] [6] Mutations of this gene have been found to cause leukoencephalopathy [7] and Idiopathic generalised epilepsy (OMIM: 600699), [8] although the latter claim has been disputed. [9]

Contents

A gain of function mutation in the CLCN2 gene was found to cause primary aldosteronism, [10] a form of arterial hypertension due to excessive production of aldosterone by the neuroendocrine cells of the zona glomerulosa of the adrenal gland. The mutation was found to cause a chloride leak in these cells and increased the expression of aldosterone synthase. [11]

CLCN2 contains a transmembrane region that is involved in chloride ion transport as well two intracellular copies of the CBS domain.

See also

Related Research Articles

<span class="mw-page-title-main">Cystic fibrosis transmembrane conductance regulator</span> Mammalian protein found in humans

Cystic fibrosis transmembrane conductance regulator (CFTR) is a membrane protein and anion channel in vertebrates that is encoded by the CFTR gene.

The Na–K–Cl cotransporter (NKCC) is a transport protein that aids in the secondary active transport of sodium, potassium, and chloride into cells. In humans there are two isoforms of this membrane transport protein, NKCC1 and NKCC2, encoded by two different genes. Two isoforms of the NKCC1/Slc12a2 gene result from keeping or skipping exon 21 in the final gene product.

<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">TSC1</span>

Tuberous sclerosis 1 (TSC1), also known as hamartin, is a protein that in humans is encoded by the TSC1 gene.

<span class="mw-page-title-main">KvLQT2</span> Protein-coding gene in humans

Kv7.2 (KvLQT2) is a voltage- and lipid-gated potassium channel protein coded for by the gene KCNQ2.

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

The sulfate transporter is a solute carrier family protein that in humans is encoded by the SLC26A2 gene. SLC26A2 is also called the diastrophic dysplasia sulfate transporter (DTDST), and was first described by Hästbacka et al. in 1994. A defect in sulfate activation described by Superti-Furga in achondrogenesis type 1B was subsequently also found to be caused by genetic variants in the sulfate transporter gene. This sulfate (SO42−) transporter also accepts chloride, hydroxyl ions (OH−), and oxalate as substrates. SLC26A2 is expressed at high levels in developing and mature cartilage, as well as being expressed in lung, placenta, colon, kidney, pancreas and testis.

<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">RPS6KA3</span> Enzyme found in humans

protein S6 kinase, 90kDa, polypeptide 3, also s RPS6KA3, is an enzyme that in humans is encoded by the RPS6KA3 gene.

<span class="mw-page-title-main">Bestrophin 1</span> Protein-coding gene in the species Homo sapiens

Bestrophin-1 (Best1) is a protein that, in humans, is encoded by the BEST1 gene.

<span class="mw-page-title-main">CLCA1</span> Protein-coding gene in the species Homo sapiens

Chloride channel accessory 1 is a protein that in humans is encoded by the CLCA1 gene.

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

Chloride anion exchanger, also known as down-regulated in adenoma, is a protein that in humans is encoded by the SLC26A3 gene.

<span class="mw-page-title-main">CLCN3</span> Protein-coding gene in the species Homo sapiens

H+/Cl− exchange transporter 3 is a protein that in humans is encoded by the CLCN3 gene.

<span class="mw-page-title-main">KCNJ10</span> Protein-coding gene in the species Homo sapiens

ATP-sensitive inward rectifier potassium channel 10 is a protein that in humans is encoded by the KCNJ10 gene.

<span class="mw-page-title-main">KCNH1</span> Protein-coding gene in the species Homo sapiens

Potassium voltage-gated channel subfamily H member 1 is a protein that in humans is encoded by the KCNH1 gene.

<span class="mw-page-title-main">CLCN4</span> Protein-coding gene in humans

H(+)/Cl(-) exchange transporter 4 is a protein that in humans is encoded by the CLCN4 gene.

<span class="mw-page-title-main">SLC12A6</span> Protein-coding gene in the species Homo sapiens

Solute carrier family 12 member 6 is a protein that in humans is encoded by the SLC12A6 gene.

<span class="mw-page-title-main">SLC12A7</span> Protein-coding gene in the species Homo sapiens

Solute carrier family 12 member 7 is a protein that in humans is encoded by the SLC12A7 gene.

<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">Anion exchange transporter</span> Protein-coding gene in the species Homo sapiens

Anion exchange transporter is a protein that in humans is encoded by the SLC26A7 gene.

<span class="mw-page-title-main">ANO1</span> Protein-coding gene in the species Homo sapiens

Anoctamin-1 (ANO1), also known as Transmembrane member 16A (TMEM16A), is a protein that, in humans, is encoded by the ANO1 gene. Anoctamin-1 is a voltage-gated calcium-activated anion channel, which acts as a chloride channel and a bicarbonate channel. additionally Anoctamin-1 is apical iodide channel. It is expressed in smooth muscle, epithelial cells, vomeronasal neurons, olfactory sustentacular cells, and is highly expressed in interstitial cells of Cajal (ICC) throughout the gastrointestinal tract.

References

  1. 1 2 3 GRCh38: Ensembl release 89: ENSG00000114859 – Ensembl, May 2017
  2. 1 2 3 GRCm38: Ensembl release 89: ENSMUSG00000022843 – 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. ↑ Cid LP, Montrose-Rafizadeh C, Smith DI, Guggino WB, Cutting GR (March 1995). "Cloning of a putative human voltage-gated chloride channel (CIC-2) cDNA widely expressed in human tissues". Human Molecular Genetics. 4 (3): 407–13. doi:10.1093/hmg/4.3.407. PMID   7795595.
  6. ↑ "Entrez Gene: CLCN2 chloride channel 2".
  7. ↑ Depienne C, Bugiani M, Dupuits C, Galanaud D, Touitou V, Postma N, et al. (July 2013). "Brain white matter oedema due to ClC-2 chloride channel deficiency: an observational analytical study". The Lancet. Neurology. 12 (7): 659–68. doi:10.1016/S1474-4422(13)70053-X. hdl: 11858/00-001M-0000-0018-F3BD-9 . PMID   23707145. S2CID   16634353.
  8. ↑ Combi R, Grioni D, Contri M, Redaelli S, Redaelli F, Bassi MT, et al. (April 2009). "Clinical and genetic familial study of a large cohort of Italian children with idiopathic epilepsy". Brain Research Bulletin. 79 (2): 89–96. doi:10.1016/j.brainresbull.2009.01.008. PMID   19200853. S2CID   3036929.
  9. ↑ Niemeyer MI, Cid LP, Sepúlveda FV, Blanz J, Auberson M, Jentsch TJ (January 2010). "No evidence for a role of CLCN2 variants in idiopathic generalized epilepsy". Nature Genetics. 42 (1): 3. doi: 10.1038/ng0110-3 . PMID   20037607.
  10. ↑ Fernandes-Rosa, Fabio L.; Daniil, Georgios; Orozco, Ian J.; Göppner, Corinna; El Zein, Rami; Jain, Vandana; Boulkroun, Sheerazed; Jeunemaitre, Xavier; Amar, Laurence; Lefebvre, Hervé; Schwarzmayr, Thomas; Strom, Tim M.; Jentsch, Thomas J.; Zennaro, Maria-Christina (March 2018). "A gain-of-function mutation in the CLCN2 chloride channel gene causes primary aldosteronism". Nature Genetics. 50 (3): 355–361. doi:10.1038/s41588-018-0053-8. ISSN   1546-1718.
  11. ↑ Stowasser, Michael; Wolley, Martin; Wu, Aihua; Gordon, Richard D.; Schewe, Julia; Stölting, Gabriel; Scholl, Ute I. (April 2019). "Pathogenesis of Familial Hyperaldosteronism Type II: New Concepts Involving Anion Channels". Current Hypertension Reports. 21 (4). doi:10.1007/s11906-019-0934-y. ISSN   1522-6417.

Further reading

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

This page is based on this Wikipedia article
Text is available under the CC BY-SA 4.0 license; additional terms may apply.
Images, videos and audio are available under their respective licenses.