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CLCN3

CLCN3

Identifiers

CLCN3, CLC3, ClC-3, chloride voltage-gated channel 3, NEDSBA, NEDHYBA

External IDs

OMIM: 600580; MGI: 103555; HomoloGene: 20435; GeneCards: CLCN3; OMA:CLCN3 - orthologs

Gene location (Human)

Chr.	Chromosome 4 (human)^[1]

Band	4q33	Start	169,612,633 bp^[1]
Band	4q33	End	169,723,673 bp^[1]

Gene location (Mouse)

Chr.	Chromosome 8 (mouse)^[2]

Band	8 B3.1\|8 30.9 cM	Start	61,363,423 bp^[2]
Band	8 B3.1\|8 30.9 cM	End	61,436,334 bp^[2]

RNA expression pattern

Human

Mouse (ortholog)

Top expressed in

mucosa of sigmoid colon

endothelial cell

Brodmann area 46

Epithelium of choroid plexus

retinal pigment epithelium

postcentral gyrus

islet of Langerhans

parotid gland

right ventricle

superior vestibular nucleus

Top expressed in

Rostral migratory stream

mammillary body

lateral septal nucleus

ventromedial nucleus

lateral geniculate nucleus

lateral hypothalamus

cingulate gyrus

anterior amygdaloid area

paraventricular nucleus of hypothalamus

subiculum

More reference expression data


More reference expression data

Gene ontology
Molecular function	nucleotide binding volume-sensitive chloride channel activity PDZ domain binding protein homodimerization activity ion channel activity protein binding protein heterodimerization activity antiporter activity ATP binding chloride channel activity voltage-gated chloride channel activity solute:proton antiporter activity chloride ion binding
Cellular component	integral component of membrane endosome late endosome Golgi apparatus early endosome membrane membrane late endosome membrane synaptic vesicle vesicle membrane Golgi membrane plasma membrane transport vesicle membrane secretory granule cell surface early endosome specific granule phagocytic vesicle external side of plasma membrane cytoplasmic vesicle integral component of plasma membrane
Biological process	negative regulation of cell volume endosomal lumen acidification ion transport regulation of anion transmembrane transport chloride transport regulation of pH chloride transmembrane transport regulation of anion transport transmembrane transport transport synaptic vesicle lumen acidification
Sources:Amigo / QuickGO

Species

Human

Mouse


1182


12725


ENSG00000109572


ENSMUSG00000004319


P51790


P51791

RefSeq (mRNA)


NM_001243372 NM_001243374 NM_001829 NM_173872


NM_007711 NM_173873 NM_173874 NM_173876

RefSeq (protein)


NP_001230301 NP_001230303 NP_001820 NP_776297


NP_031737 NP_776298 NP_776299 NP_776301

Location (UCSC)

Chr 4: 169.61 – 169.72 Mb

Chr 8: 61.36 – 61.44 Mb

PubMed search

^[3]

^[4]

View/Edit Human

View/Edit Mouse

H⁺/Cl⁻ exchange transporter 3 is a protein that in humans is encoded by the CLCN3 gene.^[5]

Interactions

CLCN3 has been shown to interact with PDZK1.^[6]

See also

Chloride channel

References

^ ^a ^b ^c GRCh38: Ensembl release 89: ENSG00000109572 – Ensembl, May 2017
^ ^a ^b ^c GRCm38: Ensembl release 89: ENSMUSG00000004319 – 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.
^ "Entrez Gene: CLCN3 chloride channel 3".
^ Gentzsch M, Cui L, Mengos A, Chang XB, Chen JH, Riordan JR (Feb 2003). "The PDZ-binding chloride channel ClC-3B localizes to the Golgi and associates with cystic fibrosis transmembrane conductance regulator-interacting PDZ proteins". J. Biol. Chem. 278 (8): 6440–9. doi:10.1074/jbc.M211050200. PMID 12471024.

Further reading

Borsani G, Rugarli EI, Taglialatela M, Wong C, Ballabio A (1995). "Characterization of a human and murine gene (CLCN3) sharing similarities to voltage-gated chloride channels and to a yeast integral membrane protein". Genomics. 27 (1): 131–41. doi:10.1006/geno.1995.1015. PMID 7665160.
Taine L, Coupry I, Boisseau P, Saura R, Lacombe D, Arveiler B (1998). "Refined localisation of the voltage-gated chloride channel, CLCN3, to 4q33". Hum. Genet. 102 (2): 178–81. doi:10.1007/s004390050673. PMID 9521585. S2CID 22138203.
Shepard AR, Rae JL (1998). "Ion transporters and receptors in cDNA libraries from lens and cornea epithelia". Curr. Eye Res. 17 (7): 708–19. doi:10.1080/02713689808951247. PMID 9678416.
Loo MA, Jensen TJ, Cui L, Hou Y, Chang XB, Riordan JR (1998). "Perturbation of Hsp90 interaction with nascent CFTR prevents its maturation and accelerates its degradation by the proteasome". EMBO J. 17 (23): 6879–87. doi:10.1093/emboj/17.23.6879. PMC 1171036. PMID 9843494.
Lamb FS, Clayton GH, Liu BX, Smith RL, Barna TJ, Schutte BC (1999). "Expression of CLCN voltage-gated chloride channel genes in human blood vessels". J. Mol. Cell. Cardiol. 31 (3): 657–66. doi:10.1006/jmcc.1998.0901. PMID 10198195.
Hartley JL, Temple GF, Brasch MA (2000). "DNA cloning using in vitro site-specific recombination". Genome Res. 10 (11): 1788–95. doi:10.1101/gr.143000. PMC 310948. PMID 11076863.
Wiemann S, Weil B, Wellenreuther R, Gassenhuber J, Glassl S, Ansorge W, Böcher M, Blöcker H, Bauersachs S, Blum H, Lauber J, Düsterhöft A, Beyer A, Köhrer K, Strack N, Mewes HW, Ottenwälder B, Obermaier B, Tampe J, Heubner D, Wambutt R, Korn B, Klein M, Poustka A (2001). "Toward a catalog of human genes and proteins: sequencing and analysis of 500 novel complete protein coding human cDNAs". Genome Res. 11 (3): 422–35. doi:10.1101/gr.GR1547R. PMC 311072. PMID 11230166.
Huang P, Liu J, Di A, Robinson NC, Musch MW, Kaetzel MA, Nelson DJ (2001). "Regulation of human CLC-3 channels by multifunctional Ca2+/calmodulin-dependent protein kinase". J. Biol. Chem. 276 (23): 20093–100. doi:10.1074/jbc.M009376200. PMID 11274166.
Lamb FS, Graeff RW, Clayton GH, Smith RL, Schutte BC, McCray PB (2001). "Ontogeny of CLCN3 chloride channel gene expression in human pulmonary epithelium". Am. J. Respir. Cell Mol. Biol. 24 (4): 376–81. doi:10.1165/ajrcmb.24.4.4114. PMID 11306429.
Ogura T, Furukawa T, Toyozaki T, Yamada K, Zheng YJ, Katayama Y, Nakaya H, Inagaki N (2002). "ClC-3B, a novel ClC-3 splicing variant that interacts with EBP50 and facilitates expression of CFTR-regulated ORCC". FASEB J. 16 (8): 863–5. doi:10.1096/fj.01-0845fje. PMID 11967229. S2CID 33470444.
Hermoso M, Satterwhite CM, Andrade YN, Hidalgo J, Wilson SM, Horowitz B, Hume JR (2002). "ClC-3 is a fundamental molecular component of volume-sensitive outwardly rectifying Cl- channels and volume regulation in HeLa cells and Xenopus laevis oocytes". J. Biol. Chem. 277 (42): 40066–74. doi:10.1074/jbc.M205132200. PMID 12183454.
Gentzsch M, Cui L, Mengos A, Chang XB, Chen JH, Riordan JR (2003). "The PDZ-binding chloride channel ClC-3B localizes to the Golgi and associates with cystic fibrosis transmembrane conductance regulator-interacting PDZ proteins". J. Biol. Chem. 278 (8): 6440–9. doi:10.1074/jbc.M211050200. PMID 12471024.
Jin NG, Kim JK, Yang DK, Cho SJ, Kim JM, Koh EJ, Jung HC, So I, Kim KW (2003). "Fundamental role of ClC-3 in volume-sensitive Cl- channel function and cell volume regulation in AGS cells". Am. J. Physiol. Gastrointest. Liver Physiol. 285 (5): G938-48. doi:10.1152/ajpgi.00470.2002. PMID 12842831. S2CID 326508.
Olsen ML, Schade S, Lyons SA, Amaral MD, Sontheimer H (2003). "Expression of voltage-gated chloride channels in human glioma cells". J. Neurosci. 23 (13): 5572–82. doi:10.1523/JNEUROSCI.23-13-05572.2003. PMC 6741216. PMID 12843258.
Salazar G, Love R, Styers ML, Werner E, Peden A, Rodriguez S, Gearing M, Wainer BH, Faundez V (2004). "AP-3-dependent mechanisms control the targeting of a chloride channel (ClC-3) in neuronal and non-neuronal cells". J. Biol. Chem. 279 (24): 25430–9. doi:10.1074/jbc.M402331200. PMID 15073168.
Wiemann S, Arlt D, Huber W, Wellenreuther R, Schleeger S, Mehrle A, Bechtel S, Sauermann M, Korf U, Pepperkok R, Sültmann H, Poustka A (2004). "From ORFeome to biology: a functional genomics pipeline". Genome Res. 14 (10B): 2136–44. doi:10.1101/gr.2576704. PMC 528930. PMID 15489336.
Zhou JG, Ren JL, Qiu QY, He H, Guan YY (2005). "Regulation of intracellular Cl- concentration through volume-regulated ClC-3 chloride channels in A10 vascular smooth muscle cells". J. Biol. Chem. 280 (8): 7301–8. doi:10.1074/jbc.M412813200. PMID 15596438.
Yeung CH, Barfield JP, Cooper TG (2005). "Chloride channels in physiological volume regulation of human spermatozoa". Biol. Reprod. 73 (5): 1057–63. doi:10.1095/biolreprod.105.044123. PMID 16033995.
Mehrle A, Rosenfelder H, Schupp I, del Val C, Arlt D, Hahne F, Bechtel S, Simpson J, Hofmann O, Hide W, Glatting KH, Huber W, Pepperkok R, Poustka A, Wiemann S (2006). "The LIFEdb database in 2006". Nucleic Acids Res. 34 (Database issue): D415-8. doi:10.1093/nar/gkj139. PMC 1347501. PMID 16381901.

External links

CLCN3+protein,+human at the U.S. National Library of Medicine Medical Subject Headings (MeSH)
Human CLCN3 genome location and CLCN3 gene details page in the UCSC Genome Browser.

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

By gating mechanism

Ion channel class	Ligand-gated Light-gated Voltage-gated Stretch-activated

see also disorders

This article on a gene on human chromosome 4 is a stub. You can help Wikipedia by expanding it.