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

Contents

See also

Related Research Articles

<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">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">CLIC1</span> Protein-coding gene in the species Homo sapiens

Chloride intracellular channel protein 1 is a protein that in humans is encoded by the CLIC1 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">CLIC4</span> Protein-coding gene in the species Homo sapiens

Chloride intracellular channel 4, also known as CLIC4,p644H1,HuH1, is a eukaryotic 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">KCNJ12</span> Protein-coding gene in the species Homo sapiens

ATP-sensitive inward rectifier potassium channel 12 is a lipid-gated ion channel that in humans is encoded by the KCNJ12 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">Anion exchange protein 3</span> Protein-coding gene in the species Homo sapiens

Anion exchange protein 3 is a membrane transport protein that in humans is encoded by the SLC4A3 gene. AE3 is functionally similar to the Band 3 Cl/HCO3 exchange protein but it is expressed primarily in brain neurons and in the heart. Like AE2 its activity is sensitive to pH. AE3 mutations have been linked to seizures.

<span class="mw-page-title-main">CLCA2</span> Protein-coding gene in the species Homo sapiens

Chloride channel accessory 2 is a protein that in humans is encoded by the CLCA2 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">Chloride potassium symporter 4</span> Protein-coding gene in the species Homo sapiens

Potassium-chloride transporter, member 4 is a chloride potassium symporter protein. It is encoded by the gene SLC12A4.

<span class="mw-page-title-main">SCNN1D</span> Protein-coding gene in the species Homo sapiens

The SCNN1D gene encodes for the δ (delta) subunit of the epithelial sodium channel ENaC in vertebrates. ENaC is assembled as a heterotrimer composed of three homologous subunits α, β, and γ or δ, β, and γ. The other ENAC subunits are encoded by SCNN1A, SCNN1B, and SCNN1G.

<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.

Further reading

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