Hmdb loader
Identification
HMDB Protein ID HMDBP08184
Secondary Accession Numbers
  • 13895
Name Chloride channel protein 2
Synonyms
  1. ClC-2
Gene Name CLCN2
Protein Type Unknown
Biological Properties
General Function Involved in voltage-gated chloride channel activity
Specific Function Voltage-gated chloride channel. Chloride channels have several functions including the regulation of cell volume; membrane potential stabilization, signal transduction and transepithelial transport
Pathways Not Available
Reactions Not Available
GO Classification
Component
membrane
cell part
Function
voltage-gated chloride channel activity
anion channel activity
chloride channel activity
transmembrane transporter activity
substrate-specific transmembrane transporter activity
ion transmembrane transporter activity
transporter activity
ion channel activity
Process
establishment of localization
transport
chloride transport
transmembrane transport
anion transport
inorganic anion transport
ion transport
Cellular Location
  1. Membrane
  2. Multi-pass membrane protein
Gene Properties
Chromosome Location Chromosome:3
Locus 3q27-q28
SNPs CLCN2
Gene Sequence
>2697 bp
ATGGCGGCCGCGGCGGCGGAGGAAGGGATGGAGCCACGGGCGCTGCAGTACGAGCAGACC
CTGATGTATGGCCGGTACACTCAGGACCTTGGGGCCTTTGCCAAAGAGGAAGCTGCTCGG
ATTCGCCTGGGAGGGCCTGAACCCTGGAAAGGTCCCCCTTCCTCTCGGGCTGCCCCAGAG
CTCTTGGAATATGGACGGAGCCGTTGCGCCCGATGCCGCGTCTGTTCTGTCCGCTGCCAC
AAGTTCCTAGTATCCAGGGTTGGTGAAGATTGGATCTTCCTGGTCCTGCTGGGGCTTCTC
ATGGCATTGGTCAGCTGGGTCATGGACTATGCCATTGCTGCCTGTCTGCAAGCCCAGCAG
TGGATGTCCCGGGGCTTGAACACCAGCATCTTGCTCCAGTACCTGGCCTGGGTCACCTAC
CCTGTTGTCCTCATCACTTTCTCAGCCGGATTCACACAGATCCTGGCCCCTCAGGCTGTC
GGCTCTGGCATCCCTGAGATGAAGACCATCTTGCGGGGAGTGGTGCTGAAAGAATACCTC
ACACTCAAGACCTTTATAGCTAAGGTCATTGGGCTGACCTGCGCCCTAGGCAGCGGGATG
CCGCTTGGCAAAGAGGGCCCTTTTGTGCATATCGCAAGCATGTGTGCTGCCCTTCTCAGC
AAGTTCCTCTCCCTCTTTGGGGGTATCTATGAGAATGAATCCCGGAACACAGAGATGCTG
GCTGCCGCCTGTGCCGTGGGGGTGGGCTGCTGCTTCGCGGCACCTATTGGAGGCGTCCTC
TTCAGCATCGAGGTCACCTCCACCTTCTTTGCAGTGCGGAACTACTGGCGGGGCTTCTTC
GCTGCCACCTTCAGTGCCTTCATCTTCCGGGTCTTGGCAGTCTGGAACCGGGATGAAGAG
ACTATTACAGCCCTCTTCAAAACCCGATTCCGGCTCGACTTCCCCTTTGACCTGCAGGAG
CTGCCAGCCTTTGCTGTCATTGGTATTGCTAGTGGCTTCGGTGGAGCCCTCTTTGTCTAC
CTGAACCGGAAGATTGTCCAGGTGATGCGGAAGCAGAAAACCATCAATCGCTTCCTCATG
AGGAAACGCCTGCTCTTCCCGGCTCTGGTGACCCTGCTCATCTCCACGCTGACCTTCCCC
CCTGGCTTTGGACAGTTCATGGCTGGACAGCTCTCACAGAAAGAGACGCTGGTCACCCTG
TTTGACAATCGGACGTGGGTCCGCCAGGGCCTGGTGGAGGAGCTAGAACCACCCAGCACC
TCACAGGCCTGGAACCCACCACGTGCCAACGTCTTCCTCACCCTGGTCATCTTCATTCTC
ATGAAGTTCTGGATGTCTGCACTGGCCACCACCATCCCAGTTCCCTGTGGGGCCTTCATG
CCTGTCTTTGTCATTGGAGCAGCATTTGGGCGTCTGGTGGGTGAAAGCATGGCTGCCTGG
TTCCCAGATGGAATTCATACGGACAGCAGCACCTACCGGATTGTGCCTGGGGGCTACGCT
GTGGTCGGGGCAGCTGCGCTGGCAGGAGCGGTGACACACACAGTGTCCACGGCTGTGATC
GTGTTCGAGCTCACAGGCCAGATTGCCCACATCCTGCCTGTCATGATCGCCGTCATCCTG
GCCAACGCTGTCGCCCAGAGTCTGCAGCCCTCCCTCTATGACAGCATCATCCGAATCAAG
AAACTGCCCTACCTGCCTGAGCTCGGCTGGGGCCGCCACCAGCAGTACCGGGTGCGTGTG
GAGGACATCATGGTGCGGGATGTTCCCCATGTGGCCCTCAGCTGCACCTTCCGGGACCTG
CGTTTGGCACTGCACAGGACCAAGGGCCGAATGCTGGCCCTAGTGGAGTCCCCTGAGTCC
ATGATTCTGCTGGGCTCCATCGAGCGTTCACAGGTGGTGGCATTGTTGGGGGCCCAGCTG
AGCCCAGCCCGCCGGCGGCAGCACATGCAGGAGCGCAGAGCCACCCAGACCTCTCCACTA
TCTGATCAGGAGGGTCCCCCTACCCCTGAGGCTTCTGTCTGCTTCCAGGTGAACACAGAA
GACTCAGCCTTCCCAGCAGCCCGGGGGGAGACCCACAAGCCCCTAAAGCCTGCACTCAAG
AGGGGGCCCAGTGTCACCAGGAACCTCGGAGAGAGTCCCACAGGGAGCGCAGAGTCGGCA
GGCATCGCCCTCCGGAGCCTCTTCTGTGGCAGTCCACCCCCTGAGGCTGCTTCGGAGAAG
TTGGAATCCTGTGAGAAGCGCAAGCTGAAGCGTGTCCGAATCTCCCTGGCAAGTGACGCG
GACCTGGAAGGCGAGATGAGCCCTGAAGAGATTCTGGAGTGGGAGGAGCAGCAACTAGAT
GAACCTGTCAACTTCAGTGACTGCAAAATTGATCCTGCTCCCTTCCAGCTGGTGGAGCGG
ACCTCTTTGCACAAGACTCACACTATCTTCTCACTGCTGGGAGTGGACCATGCTTATGTC
ACCAGTATTGGCAGACTCATTGGAATCGTTACTCTAAAGGAGCTCCGGAAGGCCATCGAG
GGCTCTGTCACAGCACAGGGTGTGAAAGTCCGGCCGCCCCTCGCCAGCTTCCGAGACAGT
GCCACCAGCAGCAGTGACACGGAGACCACTGAGGTGCATGCACTCTGGGGGCCCCACTCC
CGTCATGGCCTCCCCCGGGAGGGCAGCCCTTCCGACAGCGACGACAAATGCCAATGA
Protein Properties
Number of Residues 898
Molecular Weight 98534.4
Theoretical pI 8.47
Pfam Domain Function
Signals
  • None
Transmembrane Regions
  • 88-121
  • 130-155
  • 180-198
  • 205-223
  • 275-295
  • 321-349
  • 358-377
  • 429-449
  • 457-480
  • 531-548
Protein Sequence
>Chloride channel protein 2
MAAAAAEEGMEPRALQYEQTLMYGRYTQDLGAFAKEEAARIRLGGPEPWKGPPSSRAAPE
LLEYGRSRCARCRVCSVRCHKFLVSRVGEDWIFLVLLGLLMALVSWVMDYAIAACLQAQQ
WMSRGLNTSILLQYLAWVTYPVVLITFSAGFTQILAPQAVGSGIPEMKTILRGVVLKEYL
TLKTFIAKVIGLTCALGSGMPLGKEGPFVHIASMCAALLSKFLSLFGGIYENESRNTEML
AAACAVGVGCCFAAPIGGVLFSIEVTSTFFAVRNYWRGFFAATFSAFIFRVLAVWNRDEE
TITALFKTRFRLDFPFDLQELPAFAVIGIASGFGGALFVYLNRKIVQVMRKQKTINRFLM
RKRLLFPALVTLLISTLTFPPGFGQFMAGQLSQKETLVTLFDNRTWVRQGLVEELEPPST
SQAWNPPRANVFLTLVIFILMKFWMSALATTIPVPCGAFMPVFVIGAAFGRLVGESMAAW
FPDGIHTDSSTYRIVPGGYAVVGAAALAGAVTHTVSTAVIVFELTGQIAHILPVMIAVIL
ANAVAQSLQPSLYDSIIRIKKLPYLPELGWGRHQQYRVRVEDIMVRDVPHVALSCTFRDL
RLALHRTKGRMLALVESPESMILLGSIERSQVVALLGAQLSPARRRQHMQERRATQTSPL
SDQEGPPTPEASVCFQVNTEDSAFPAARGETHKPLKPALKRGPSVTRNLGESPTGSAESA
GIALRSLFCGSPPPEAASEKLESCEKRKLKRVRISLASDADLEGEMSPEEILEWEEQQLD
EPVNFSDCKIDPAPFQLVERTSLHKTHTIFSLLGVDHAYVTSIGRLIGIVTLKELRKAIE
GSVTAQGVKVRPPLASFRDSATSSSDTETTEVHALWGPHSRHGLPREGSPSDSDDKCQ
GenBank ID Protein 2570864
UniProtKB/Swiss-Prot ID P51788
UniProtKB/Swiss-Prot Entry Name CLCN2_HUMAN
PDB IDs Not Available
GenBank Gene ID AF026004
GeneCard ID CLCN2
GenAtlas ID CLCN2
HGNC ID HGNC:2020
References
General References
  1. Gerhard DS, Wagner L, Feingold EA, Shenmen CM, Grouse LH, Schuler G, Klein SL, Old S, Rasooly R, Good P, Guyer M, Peck AM, Derge JG, Lipman D, Collins FS, Jang W, Sherry S, Feolo M, Misquitta L, Lee E, Rotmistrovsky K, Greenhut SF, Schaefer CF, Buetow K, Bonner TI, Haussler D, Kent J, Kiekhaus M, Furey T, Brent M, Prange C, Schreiber K, Shapiro N, Bhat NK, Hopkins RF, Hsie F, Driscoll T, Soares MB, Casavant TL, Scheetz TE, Brown-stein MJ, Usdin TB, Toshiyuki S, Carninci P, Piao Y, Dudekula DB, Ko MS, Kawakami K, Suzuki Y, Sugano S, Gruber CE, Smith MR, Simmons B, Moore T, Waterman R, Johnson SL, Ruan Y, Wei CL, Mathavan S, Gunaratne PH, Wu J, Garcia AM, Hulyk SW, Fuh E, Yuan Y, Sneed A, Kowis C, Hodgson A, Muzny DM, McPherson J, Gibbs RA, Fahey J, Helton E, Ketteman M, Madan A, Rodrigues S, Sanchez A, Whiting M, Madari A, Young AC, Wetherby KD, Granite SJ, Kwong PN, Brinkley CP, Pearson RL, Bouffard GG, Blakesly RW, Green ED, Dickson MC, Rodriguez AC, Grimwood J, Schmutz J, Myers RM, Butterfield YS, Griffith M, Griffith OL, Krzywinski MI, Liao N, Morin R, Palmquist D, Petrescu AS, Skalska U, Smailus DE, Stott JM, Schnerch A, Schein JE, Jones SJ, Holt RA, Baross A, Marra MA, Clifton S, Makowski KA, Bosak S, Malek J: The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). Genome Res. 2004 Oct;14(10B):2121-7. [PubMed:15489334 ]
  2. Cid LP, Montrose-Rafizadeh C, Smith DI, Guggino WB, Cutting GR: Cloning of a putative human voltage-gated chloride channel (CIC-2) cDNA widely expressed in human tissues. Hum Mol Genet. 1995 Mar;4(3):407-13. [PubMed:7795595 ]
  3. Lamb FS, Clayton GH, Liu BX, Smith RL, Barna TJ, Schutte BC: Expression of CLCN voltage-gated chloride channel genes in human blood vessels. J Mol Cell Cardiol. 1999 Mar;31(3):657-66. [PubMed:10198195 ]
  4. Niemeyer MI, Cid LP, Yusef YR, Briones R, Sepulveda FV: Voltage-dependent and -independent titration of specific residues accounts for complex gating of a ClC chloride channel by extracellular protons. J Physiol. 2009 Apr 1;587(Pt 7):1387-400. doi: 10.1113/jphysiol.2008.167353. Epub 2009 Jan 19. [PubMed:19153159 ]
  5. Haug K, Warnstedt M, Alekov AK, Sander T, Ramirez A, Poser B, Maljevic S, Hebeisen S, Kubisch C, Rebstock J, Horvath S, Hallmann K, Dullinger JS, Rau B, Haverkamp F, Beyenburg S, Schulz H, Janz D, Giese B, Muller-Newen G, Propping P, Elger CE, Fahlke C, Lerche H, Heils A: Mutations in CLCN2 encoding a voltage-gated chloride channel are associated with idiopathic generalized epilepsies. Nat Genet. 2003 Apr;33(4):527-32. Epub 2003 Mar 3. [PubMed:12612585 ]
  6. Paul J, Jeyaraj S, Huber SM, Seebohm G, Bohmer C, Lang F, Kremsner PG, Kun JF: Alterations in the cytoplasmic domain of CLCN2 result in altered gating kinetics. Cell Physiol Biochem. 2007;20(5):441-54. [PubMed:17762171 ]
  7. Combi R, Grioni D, Contri M, Redaelli S, Redaelli F, Bassi MT, Barisani D, Lavitrano ML, Tredici G, Tenchini ML, Bertolini M, Dalpra L: Clinical and genetic familial study of a large cohort of Italian children with idiopathic epilepsy. Brain Res Bull. 2009 Apr 29;79(2):89-96. doi: 10.1016/j.brainresbull.2009.01.008. Epub 2009 Feb 5. [PubMed:19200853 ]
  8. Saint-Martin C, Gauvain G, Teodorescu G, Gourfinkel-An I, Fedirko E, Weber YG, Maljevic S, Ernst JP, Garcia-Olivares J, Fahlke C, Nabbout R, LeGuern E, Lerche H, Poncer JC, Depienne C: Two novel CLCN2 mutations accelerating chloride channel deactivation are associated with idiopathic generalized epilepsy. Hum Mutat. 2009 Mar;30(3):397-405. doi: 10.1002/humu.20876. [PubMed:19191339 ]