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CLCN2

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From Wikipedia, the free encyclopedia

Protein-coding gene in the species Homo sapiens

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

Gene location (Human)

Chr.	Chromosome 3 (human)^[1]

Band	3q27.1	Start	184,346,185bp^[1]
Band	3q27.1	End	184,361,650bp^[1]

Gene location (Mouse)

Chr.	Chromosome 16 (mouse)^[2]

Band	16 A3- B1\|16 12.5 cM	Start	20,521,714bp^[2]
Band	16 A3- B1\|16 12.5 cM	End	20,536,496bp^[2]

RNA expression pattern

Bgee

Human

Mouse (ortholog)

Top expressed in

mucosa of transverse colon

tibial nerve

sural nerve

right testis

left testis

right hemisphere of cerebellum

C1 segment

rectum

gallbladder

right ovary

Top expressed in

intestinal villus

visual cortex

duodenum

primary visual cortex

superior frontal gyrus

jejunum

large intestine

colon

renal capsule

spermatocyte

More reference expression data

BioGPS


More reference expression data

Gene ontology
Molecular function	voltage-gated ion channel activity chloride channel activity voltage-gated chloride channel activity protein binding
Cellular component	integral component of membrane plasma membrane membrane chloride channel complex integral component of plasma membrane
Biological process	cell differentiation involved in salivary gland development ion transmembrane transport chloride transport regulation of ion transmembrane transport ion transport retina development in camera-type eye transmembrane transport chloride transmembrane transport regulation of aldosterone biosynthetic process
Sources:Amigo /QuickGO

Orthologs

Species

Human

Mouse

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 aprotein that in humans is encoded by theCLCN2gene.^[5]^[6] Mutations of this gene have been found to causeleukoencephalopathy^[7] andIdiopathic generalised epilepsy (OMIM:600699),^[8] although the latter claim has been disputed.^[9]

Again of function mutation in the CLCN2 gene was found to causeprimary aldosteronism,^[10] a form ofarterial hypertension due to excessive production ofaldosterone by theneuroendocrine cells of thezona glomerulosa of theadrenal 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 theCBS domain.

References

[edit]

^^a ^b ^cGRCh38: Ensembl release 89: ENSG00000114859 –Ensembl, May 2017
^^a ^b ^cGRCm38: Ensembl release 89: ENSMUSG00000022843 –Ensembl, May 2017
^"Human PubMed Reference:".National Center for Biotechnology Information, U.S. National Library of Medicine.
^"Mouse PubMed Reference:".National Center for Biotechnology Information, U.S. National Library of Medicine.
^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):407–413.doi:10.1093/hmg/4.3.407.PMID 7795595.
^"Entrez Gene: CLCN2 chloride channel 2".
^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):659–668.doi:10.1016/S1474-4422(13)70053-X.hdl:11858/00-001M-0000-0018-F3BD-9.PMID 23707145.S2CID 16634353.
^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.
^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.
^Fernandes-Rosa FL, Daniil G, Orozco IJ, Goppner C, Zein R, Jain V, et al. (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.PMID 29403012.
^Stowasser M, Wolley M, Wu A, Gordon RD, Schewe J, Stolting G, et al. (April 2019)."Pathogenesis of Familial Hyperaldosteronism Type II: New Concepts Involving Anion Channels".Current Hypertension Reports.21 (4): 31.doi:10.1007/s11906-019-0934-y.ISSN 1522-6417.PMID 30949771.

External links

[edit]

CLCN2+protein,+human at the U.S. National Library of MedicineMedical Subject Headings (MeSH)
HumanCLCN2 genome location andCLCN2 gene details page in theUCSC Genome Browser.

This article incorporates text from theUnited States National Library of Medicine, which is in thepublic domain.

Membrane transport protein:ion channels (TC 1A)

Ca²⁺:Calcium channel

Ligand-gated	Inositol trisphosphate receptor 1 2 3 Ryanodine receptor 1 2 3
Voltage-gated	L-type/Ca_vα 1.1 1.2 1.3 1.4 N-type/Ca_vα2.2 P-type/Ca_vα 2.1 Q-type/Ca_vα2.1 R-type/Ca_vα2.3 T-type/Ca_vα 3.1 3.2 3.3 α₂δ-subunits 1 2 β-subunits β1 β2 β3 β4 γ-subunits γ1 γ2 γ3 γ4 Cation channels of sperm 1 2 3 4 Two-pore channel 1 2

Na⁺:Sodium channel

Constitutively active	Epithelial sodium channel α β γ δ
Proton-gated	Amiloride-sensitive cation channel 1 2 3 4
Voltage-gated	Na_vα 1.1 1.2 1.3 1.4 1.5 1.6 1.7 1.8 1.9 7A Na_vβ 1 2 3 4

K⁺:Potassium channel

Calcium-activated	BK channel α1 β1 β2 β3 β4 SK channel SK1 SK2 SK3 IK channel IK1 K_Ca 1.1 2.1 2.2 2.3 3.1 4.1 4.2 5.1
Inward-rectifier	K_ATP K_ir 1.1 2.1 2.2 2.3 2.4 2.6 GIRK/K_ir 3.1 3.2 3.3 3.4 K_ir 4.1 4.2 5.1 6.1 6.2 7.1
Tandem pore domain	K2P 1 2 3 4 5 6 7 9 10 12 13 15 16 17 18
Voltage-gated	K_vα1-6 1.1 1.2 1.3 1.4 1.5 1.6 1.7 1.8 2.1 2.2 3.1 3.2 3.3 3.4 4.1 4.2 4.3 5.1 6.1 6.2 6.3 6.4 K_vα7-12 7.1 7.2 7.3 7.4 7.5 8.1 8.2 9.1 9.2 9.3 10.1 10.2 11.1/hERG 11.2 11.3 12.1 12.2 12.3 K_vβ 1 2 3 KCNIP 1 2 3 4 minK/ISK minK/ISK-like MiRP 1 2 3 Shaker (gene)

Miscellaneous

Cl⁻:Chloride channel	Calcium-activated chloride channels Anoctamin ANO1 Bestrophin 1 2 Chloride Channel Accessory 1 2 3 4 CFTR CLCN 1 2 3 4 5 6 7 KA KB CLIC 1 2 3 4 5 6 L1 CLNS 1A 1B
H⁺:Proton channel	HVCN1
M⁺:CNG cation channel	α 1 2 3 4 β 1 2 3 HCN FC 1 2 3 4
M⁺:TRP cation channel	TRPA (1) TRPC 1 2 3 4 4AP 5 6 7 TRPM 1 2 3 4 5 6 7 8 TRPML 1 2 3 TRPN TRPP 1 2 TRPV 1 2 3 4 5 6
H₂O (+solutes):Porin	Aquaporin 0 1 2 3 4 5 6 7 8 9 Voltage-dependent anion channel 1 2 3 General bacterial porin family
Cytoplasm:Gap junction	Connexin A GJA1 GJA3 GJA4 GJA5 GJA8 GJA9 GJA10 B GJB1 GJB2 GJB3 GJB4 GJB5 GJB6 GJB7 C GJC1 GJC2 GJC3 D GJD2 GJD3 GJD4 Innexin