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P51788

- CLCN2_HUMAN

UniProt

P51788 - CLCN2_HUMAN

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Protein

Chloride channel protein 2

Gene

CLCN2

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5- Experimental evidence at protein leveli

Functioni

Voltage-gated chloride channel. Chloride channels have several functions including the regulation of cell volume; membrane potential stabilization, signal transduction and transepithelial transport.2 Publications

Sites

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Binding sitei162 – 1621ChlorideBy similarity
Binding sitei459 – 4591Chloride; via amide nitrogenBy similarity
Binding sitei553 – 5531ChlorideBy similarity

GO - Molecular functioni

  1. adenyl nucleotide binding Source: InterPro
  2. voltage-gated chloride channel activity Source: ProtInc

GO - Biological processi

  1. cell differentiation involved in salivary gland development Source: Ensembl
  2. ion transmembrane transport Source: Reactome
  3. regulation of anion transport Source: GOC
  4. retina development in camera-type eye Source: Ensembl
  5. transmembrane transport Source: Reactome
  6. transport Source: ProtInc
Complete GO annotation...

Keywords - Molecular functioni

Chloride channel, Ion channel, Voltage-gated channel

Keywords - Biological processi

Ion transport, Transport

Keywords - Ligandi

Chloride

Enzyme and pathway databases

ReactomeiREACT_160189. Stimuli-sensing channels.

Names & Taxonomyi

Protein namesi
Recommended name:
Chloride channel protein 2
Short name:
ClC-2
Gene namesi
Name:CLCN2
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
ProteomesiUP000005640: Chromosome 3

Organism-specific databases

HGNCiHGNC:2020. CLCN2.

Subcellular locationi

GO - Cellular componenti

  1. chloride channel complex Source: UniProtKB-KW
  2. plasma membrane Source: Reactome
Complete GO annotation...

Keywords - Cellular componenti

Membrane

Pathology & Biotechi

Involvement in diseasei

Epilepsy, idiopathic generalized 11 (EIG11) [MIM:607628]: A disorder characterized by recurring generalized seizures in the absence of detectable brain lesions and/or metabolic abnormalities. Generalized seizures arise diffusely and simultaneously from both hemispheres of the brain.
Note: Disease susceptibility is associated with variations affecting the gene represented in this entry.
Juvenile absence epilepsy 2 (JAE2) [MIM:607628]: A subtype of idiopathic generalized epilepsy characterized by onset occurring around puberty, absence seizures, generalized tonic-clonic seizures (GTCS), GTCS on awakening, and myoclonic seizures.
Note: Disease susceptibility is associated with variations affecting the gene represented in this entry.
Juvenile myoclonic epilepsy 8 (EJM8) [MIM:607628]: A subtype of idiopathic generalized epilepsy. Patients have afebrile seizures only, with onset in adolescence (rather than in childhood) and myoclonic jerks which usually occur after awakening and are triggered by sleep deprivation and fatigue.
Note: Disease susceptibility is associated with variations affecting the gene represented in this entry.
Leukoencephalopathy with ataxia (LKPAT) [MIM:615651]: An autosomal recessive neurologic disorder with a characteristic pattern of white matter abnormalities on brain MRI. Affected individuals have prominent signal abnormalities and decreased apparent diffusion coefficient values in the posterior limbs of the internal capsules, middle cerebral peduncles, pyramidal tracts in the pons, and middle cerebellar peduncles, suggesting myelin microvacuolation. Clinical features include ataxia and unstable gait. More variable abnormalities may include visual field defects, headaches, and learning disabilities.1 Publication
Note: The disease is caused by mutations affecting the gene represented in this entry.
Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti144 – 1452Missing in LKPAT; loss of function mutation; the mutant protein is restricted to the endoplasmic reticulum and hardly reached the plasma membrane; lower amounts of the mutant protein compared to wild-type. 1 Publication
VAR_070976
Natural varianti500 – 5001A → V in LKPAT; loss of function mutation; the mutant protein is restricted to the endoplasmic reticulum and hardly reaches the plasma membrane; lower amounts of the mutant protein compared to wild-type. 1 Publication
VAR_070977

Keywords - Diseasei

Disease mutation, Epilepsy

Organism-specific databases

MIMi607628. phenotype.
615651. phenotype.
Orphaneti307. Juvenile myoclonic epilepsy.
363540. Leukoencephalopathy with mild cerebellar ataxia and white matter edema.
PharmGKBiPA26547.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Initiator methioninei1 – 11Removed1 Publication
Chaini2 – 898897Chloride channel protein 2PRO_0000094433Add
BLAST

Amino acid modifications

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Modified residuei2 – 21N-acetylalanine1 Publication

Keywords - PTMi

Acetylation

Proteomic databases

MaxQBiP51788.
PaxDbiP51788.
PRIDEiP51788.

PTM databases

PhosphoSiteiP51788.

Expressioni

Tissue specificityi

Ubiquitously expressed. Moderately expressed in aortic and coronary vascular smooth muscle cells and expressed at a low level in aortic endothelial cells.1 Publication

Gene expression databases

BgeeiP51788.
CleanExiHS_CLCN2.
GenevestigatoriP51788.

Organism-specific databases

HPAiCAB009397.
HPA014545.
HPA024108.

Interactioni

Protein-protein interaction databases

BioGridi107595. 3 interactions.
IntActiP51788. 14 interactions.
STRINGi9606.ENSP00000265593.

Structurei

3D structure databases

ProteinModelPortaliP51788.
SMRiP51788. Positions 93-651, 766-841.
ModBaseiSearch...
MobiDBiSearch...

Topological domain

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Topological domaini2 – 8786CytoplasmicBy similarityAdd
BLAST
Topological domaini549 – 898350CytoplasmicBy similarityAdd
BLAST

Intramembrane

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Intramembranei164 – 1718HelicalSequence Analysis
Intramembranei239 – 25113HelicalBy similarityAdd
BLAST
Intramembranei255 – 2639HelicalBy similarity
Intramembranei497 – 51115HelicalBy similarityAdd
BLAST
Intramembranei512 – 5132Note=Loop between two helicesBy similarity
Intramembranei514 – 52512HelicalBy similarityAdd
BLAST
Intramembranei526 – 5305Note=Loop between two helicesBy similarity

Transmembrane

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Transmembranei88 – 12134HelicalBy similarityAdd
BLAST
Transmembranei130 – 15526HelicalBy similarityAdd
BLAST
Transmembranei180 – 19819HelicalBy similarityAdd
BLAST
Transmembranei205 – 22319HelicalBy similarityAdd
BLAST
Transmembranei275 – 29521HelicalBy similarityAdd
BLAST
Transmembranei321 – 34929HelicalBy similarityAdd
BLAST
Transmembranei358 – 37720HelicalBy similarityAdd
BLAST
Transmembranei429 – 44921HelicalBy similarityAdd
BLAST
Transmembranei457 – 48024HelicalBy similarityAdd
BLAST
Transmembranei531 – 54818HelicalBy similarityAdd
BLAST

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Domaini584 – 64259CBS 1PROSITE-ProRule annotationAdd
BLAST
Domaini790 – 85061CBS 2PROSITE-ProRule annotationAdd
BLAST

Motif

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Motifi161 – 1655Selectivity filter part_1By similarity
Motifi203 – 2075Selectivity filter part_2By similarity
Motifi457 – 4615Selectivity filter part_3By similarity

Compositional bias

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Compositional biasi2 – 65Poly-Ala

Sequence similaritiesi

Contains 2 CBS domains.PROSITE-ProRule annotation

Keywords - Domaini

CBS domain, Repeat, Transmembrane, Transmembrane helix

Phylogenomic databases

eggNOGiCOG0038.
GeneTreeiENSGT00760000119109.
HOGENOMiHOG000231297.
HOVERGENiHBG005332.
InParanoidiP51788.
KOiK05011.
OMAiETHKPLK.
OrthoDBiEOG77WWCD.
PhylomeDBiP51788.
TreeFamiTF300522.

Family and domain databases

Gene3Di1.10.3080.10. 1 hit.
InterProiIPR000644. CBS_dom.
IPR002244. Cl-channel-2.
IPR014743. Cl-channel_core.
IPR001807. Cl-channel_volt-gated.
[Graphical view]
PfamiPF00571. CBS. 1 hit.
PF00654. Voltage_CLC. 1 hit.
[Graphical view]
PRINTSiPR00762. CLCHANNEL.
PR01113. CLCHANNEL2.
SMARTiSM00116. CBS. 1 hit.
[Graphical view]
SUPFAMiSSF81340. SSF81340. 1 hit.
PROSITEiPS51371. CBS. 2 hits.
[Graphical view]

Sequences (5)i

Sequence statusi: Complete.

Sequence processingi: The displayed sequence is further processed into a mature form.

This entry describes 5 isoformsi produced by alternative splicing. Align

Isoform 1 (identifier: P51788-1) [UniParc]FASTAAdd to Basket

This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

« Hide

        10         20         30         40         50
MAAAAAEEGM EPRALQYEQT LMYGRYTQDL GAFAKEEAAR IRLGGPEPWK
60 70 80 90 100
GPPSSRAAPE LLEYGRSRCA RCRVCSVRCH KFLVSRVGED WIFLVLLGLL
110 120 130 140 150
MALVSWVMDY AIAACLQAQQ WMSRGLNTSI LLQYLAWVTY PVVLITFSAG
160 170 180 190 200
FTQILAPQAV GSGIPEMKTI LRGVVLKEYL TLKTFIAKVI GLTCALGSGM
210 220 230 240 250
PLGKEGPFVH IASMCAALLS KFLSLFGGIY ENESRNTEML AAACAVGVGC
260 270 280 290 300
CFAAPIGGVL FSIEVTSTFF AVRNYWRGFF AATFSAFIFR VLAVWNRDEE
310 320 330 340 350
TITALFKTRF RLDFPFDLQE LPAFAVIGIA SGFGGALFVY LNRKIVQVMR
360 370 380 390 400
KQKTINRFLM RKRLLFPALV TLLISTLTFP PGFGQFMAGQ LSQKETLVTL
410 420 430 440 450
FDNRTWVRQG LVEELEPPST SQAWNPPRAN VFLTLVIFIL MKFWMSALAT
460 470 480 490 500
TIPVPCGAFM PVFVIGAAFG RLVGESMAAW FPDGIHTDSS TYRIVPGGYA
510 520 530 540 550
VVGAAALAGA VTHTVSTAVI VFELTGQIAH ILPVMIAVIL ANAVAQSLQP
560 570 580 590 600
SLYDSIIRIK KLPYLPELGW GRHQQYRVRV EDIMVRDVPH VALSCTFRDL
610 620 630 640 650
RLALHRTKGR MLALVESPES MILLGSIERS QVVALLGAQL SPARRRQHMQ
660 670 680 690 700
ERRATQTSPL SDQEGPPTPE ASVCFQVNTE DSAFPAARGE THKPLKPALK
710 720 730 740 750
RGPSVTRNLG ESPTGSAESA GIALRSLFCG SPPPEAASEK LESCEKRKLK
760 770 780 790 800
RVRISLASDA DLEGEMSPEE ILEWEEQQLD EPVNFSDCKI DPAPFQLVER
810 820 830 840 850
TSLHKTHTIF SLLGVDHAYV TSIGRLIGIV TLKELRKAIE GSVTAQGVKV
860 870 880 890
RPPLASFRDS ATSSSDTETT EVHALWGPHS RHGLPREGSP SDSDDKCQ
Length:898
Mass (Da):98,535
Last modified:February 9, 2010 - v2
Checksum:i5F20FA8713C0C74E
GO
Isoform 2 (identifier: P51788-2) [UniParc]FASTAAdd to Basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-359: Missing.
     443-485: FWMSALATTI...SMAAWFPDGI → HLGVWWVKAW...WSGQLRWQER
     486-898: Missing.

Note: May be produced at very low levels due to a premature stop codon in the mRNA, leading to nonsense-mediated mRNA decay.

Show »
Length:126
Mass (Da):14,383
Checksum:i69843C961A8FC3DF
GO
Isoform 3 (identifier: P51788-3) [UniParc]FASTAAdd to Basket

The sequence of this isoform differs from the canonical sequence as follows:
     466-482: Missing.

Show »
Length:881
Mass (Da):96,786
Checksum:iF44E1264FC92758F
GO
Isoform 4 (identifier: P51788-4) [UniParc]FASTAAdd to Basket

The sequence of this isoform differs from the canonical sequence as follows:
     74-117: Missing.

Note: No experimental confirmation available.

Show »
Length:854
Mass (Da):93,583
Checksum:iEA949779A2E7B686
GO
Isoform 5 (identifier: P51788-5) [UniParc]FASTAAdd to Basket

The sequence of this isoform differs from the canonical sequence as follows:
     806-834: Missing.

Note: No experimental confirmation available.

Show »
Length:869
Mass (Da):95,399
Checksum:iE0D9292146DD1AA5
GO

Experimental Info

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Sequence conflicti17 – 171Y → H in AAB34722. (PubMed:7795595)Curated
Sequence conflicti537 – 5371A → V in AAH21578. (PubMed:15489334)Curated

Natural variant

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti48 – 481P → R Reduces channel activity. 1 Publication
Corresponds to variant rs115661422 [ dbSNP | Ensembl ].
VAR_057886
Natural varianti68 – 681R → H Reduces channel activity. 1 Publication
Corresponds to variant rs61729156 [ dbSNP | Ensembl ].
VAR_057887
Natural varianti144 – 1452Missing in LKPAT; loss of function mutation; the mutant protein is restricted to the endoplasmic reticulum and hardly reached the plasma membrane; lower amounts of the mutant protein compared to wild-type. 1 Publication
VAR_070976
Natural varianti199 – 1991G → A No effect. 1 Publication
VAR_057888
Natural varianti235 – 2351R → Q Confers susceptibility to juvenile myoclonic epilepsy type 8; the mutant channel has accelerated deactivation rates compared to wild-type, but normal activation and peak current. 1 Publication
Corresponds to variant rs71318369 [ dbSNP | Ensembl ].
VAR_057889
Natural varianti500 – 5001A → V in LKPAT; loss of function mutation; the mutant protein is restricted to the endoplasmic reticulum and hardly reaches the plasma membrane; lower amounts of the mutant protein compared to wild-type. 1 Publication
VAR_070977
Natural varianti577 – 5771R → Q Confers susceptibility to idiopathic generalized epilepsy type 11; the mutant channel has accelerated deactivation rates compared to wild-type, but normal activation and peak current. 1 Publication
VAR_057890
Natural varianti644 – 6441R → C No effect. 1 Publication
Corresponds to variant rs148545588 [ dbSNP | Ensembl ].
VAR_057891
Natural varianti646 – 6461R → Q Reduces channel activity. 1 Publication
Corresponds to variant rs115961753 [ dbSNP | Ensembl ].
VAR_057892
Natural varianti668 – 6681T → S.3 Publications
Corresponds to variant rs9820367 [ dbSNP | Ensembl ].
VAR_054550
Natural varianti715 – 7151G → E May confer susceptibility to juvenile absence epilepsy type 2. 1 Publication
Corresponds to variant rs28938470 [ dbSNP | Ensembl ].
VAR_015989
Natural varianti718 – 7181E → D.
Corresponds to variant rs2228292 [ dbSNP | Ensembl ].
VAR_054551
Natural varianti719 – 7191S → L in a patient with childhood absence epilepsy. 1 Publication
VAR_058426
Natural varianti725 – 7251R → W Slightly faster channel activation. 1 Publication
Corresponds to variant rs114702742 [ dbSNP | Ensembl ].
VAR_057893
Natural varianti747 – 7471R → H Slightly faster channel activation. 1 Publication
Corresponds to variant rs144164281 [ dbSNP | Ensembl ].
VAR_057894

Alternative sequence

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Alternative sequencei1 – 359359Missing in isoform 2. 1 PublicationVSP_007831Add
BLAST
Alternative sequencei74 – 11744Missing in isoform 4. 1 PublicationVSP_045457Add
BLAST
Alternative sequencei443 – 48543FWMSA…FPDGI → HLGVWWVKAWLPGSQMEFIR TAAPTGLCLGATLWSGQLRW QER in isoform 2. 1 PublicationVSP_007832Add
BLAST
Alternative sequencei466 – 48217Missing in isoform 3. 1 PublicationVSP_036456Add
BLAST
Alternative sequencei486 – 898413Missing in isoform 2. 1 PublicationVSP_036455Add
BLAST
Alternative sequencei806 – 83429Missing in isoform 5. 1 PublicationVSP_045458Add
BLAST

Sequence databases

Select the link destinations:
EMBL
GenBank
DDBJ
Links Updated
S77770 mRNA. Translation: AAB34722.2.
AF026004 mRNA. Translation: AAB88807.1.
AK298952 mRNA. Translation: BAG61051.1.
AK302759 mRNA. Translation: BAG63970.1.
AC078797 Genomic DNA. No translation available.
BC021578 mRNA. Translation: AAH21578.1. Sequence problems.
BC072004 mRNA. Translation: AAH72004.1.
CCDSiCCDS3263.1. [P51788-1]
CCDS54690.1. [P51788-4]
CCDS54691.1. [P51788-3]
CCDS54692.1. [P51788-5]
RefSeqiNP_001164558.1. NM_001171087.2. [P51788-3]
NP_001164559.1. NM_001171088.2. [P51788-4]
NP_001164560.1. NM_001171089.2. [P51788-5]
NP_004357.3. NM_004366.5. [P51788-1]
UniGeneiHs.436847.

Genome annotation databases

EnsembliENST00000265593; ENSP00000265593; ENSG00000114859. [P51788-1]
ENST00000344937; ENSP00000345056; ENSG00000114859. [P51788-3]
ENST00000434054; ENSP00000400425; ENSG00000114859. [P51788-4]
ENST00000457512; ENSP00000391928; ENSG00000114859. [P51788-5]
GeneIDi1181.
KEGGihsa:1181.
UCSCiuc003foi.4. human. [P51788-1]
uc010hya.3. human. [P51788-3]

Polymorphism databases

DMDMi288558807.

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Cross-referencesi

Sequence databases

Select the link destinations:
EMBL
GenBank
DDBJ
Links Updated
S77770 mRNA. Translation: AAB34722.2 .
AF026004 mRNA. Translation: AAB88807.1 .
AK298952 mRNA. Translation: BAG61051.1 .
AK302759 mRNA. Translation: BAG63970.1 .
AC078797 Genomic DNA. No translation available.
BC021578 mRNA. Translation: AAH21578.1 . Sequence problems.
BC072004 mRNA. Translation: AAH72004.1 .
CCDSi CCDS3263.1. [P51788-1 ]
CCDS54690.1. [P51788-4 ]
CCDS54691.1. [P51788-3 ]
CCDS54692.1. [P51788-5 ]
RefSeqi NP_001164558.1. NM_001171087.2. [P51788-3 ]
NP_001164559.1. NM_001171088.2. [P51788-4 ]
NP_001164560.1. NM_001171089.2. [P51788-5 ]
NP_004357.3. NM_004366.5. [P51788-1 ]
UniGenei Hs.436847.

3D structure databases

ProteinModelPortali P51788.
SMRi P51788. Positions 93-651, 766-841.
ModBasei Search...
MobiDBi Search...

Protein-protein interaction databases

BioGridi 107595. 3 interactions.
IntActi P51788. 14 interactions.
STRINGi 9606.ENSP00000265593.

Chemistry

ChEMBLi CHEMBL1628478.
DrugBanki DB01046. Lubiprostone.
GuidetoPHARMACOLOGYi 699.

PTM databases

PhosphoSitei P51788.

Polymorphism databases

DMDMi 288558807.

Proteomic databases

MaxQBi P51788.
PaxDbi P51788.
PRIDEi P51788.

Protocols and materials databases

Structural Biology Knowledgebase Search...

Genome annotation databases

Ensembli ENST00000265593 ; ENSP00000265593 ; ENSG00000114859 . [P51788-1 ]
ENST00000344937 ; ENSP00000345056 ; ENSG00000114859 . [P51788-3 ]
ENST00000434054 ; ENSP00000400425 ; ENSG00000114859 . [P51788-4 ]
ENST00000457512 ; ENSP00000391928 ; ENSG00000114859 . [P51788-5 ]
GeneIDi 1181.
KEGGi hsa:1181.
UCSCi uc003foi.4. human. [P51788-1 ]
uc010hya.3. human. [P51788-3 ]

Organism-specific databases

CTDi 1181.
GeneCardsi GC03M184063.
HGNCi HGNC:2020. CLCN2.
HPAi CAB009397.
HPA014545.
HPA024108.
MIMi 600570. gene.
607628. phenotype.
615651. phenotype.
neXtProti NX_P51788.
Orphaneti 307. Juvenile myoclonic epilepsy.
363540. Leukoencephalopathy with mild cerebellar ataxia and white matter edema.
PharmGKBi PA26547.
GenAtlasi Search...

Phylogenomic databases

eggNOGi COG0038.
GeneTreei ENSGT00760000119109.
HOGENOMi HOG000231297.
HOVERGENi HBG005332.
InParanoidi P51788.
KOi K05011.
OMAi ETHKPLK.
OrthoDBi EOG77WWCD.
PhylomeDBi P51788.
TreeFami TF300522.

Enzyme and pathway databases

Reactomei REACT_160189. Stimuli-sensing channels.

Miscellaneous databases

ChiTaRSi CLCN2. human.
GeneWikii CLCN2.
GenomeRNAii 1181.
NextBioi 4880.
PROi P51788.
SOURCEi Search...

Gene expression databases

Bgeei P51788.
CleanExi HS_CLCN2.
Genevestigatori P51788.

Family and domain databases

Gene3Di 1.10.3080.10. 1 hit.
InterProi IPR000644. CBS_dom.
IPR002244. Cl-channel-2.
IPR014743. Cl-channel_core.
IPR001807. Cl-channel_volt-gated.
[Graphical view ]
Pfami PF00571. CBS. 1 hit.
PF00654. Voltage_CLC. 1 hit.
[Graphical view ]
PRINTSi PR00762. CLCHANNEL.
PR01113. CLCHANNEL2.
SMARTi SM00116. CBS. 1 hit.
[Graphical view ]
SUPFAMi SSF81340. SSF81340. 1 hit.
PROSITEi PS51371. CBS. 2 hits.
[Graphical view ]
ProtoNeti Search...

Publicationsi

« Hide 'large scale' publications
  1. "Cloning of a putative human voltage-gated chloride channel (ClC-2) cDNA widely expressed in human tissues."
    Cid L.P., Montrose-Rafizadeh C., Smith D.I., Guggino W.B., Cutting G.R.
    Hum. Mol. Genet. 4:407-413(1995) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1), VARIANT SER-668.
    Tissue: Placenta.
  2. Rae J.L., Shepard A.R.
    Submitted (SEP-1997) to the EMBL/GenBank/DDBJ databases
    Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1).
    Tissue: Lens epithelium.
  3. "Complete sequencing and characterization of 21,243 full-length human cDNAs."
    Ota T., Suzuki Y., Nishikawa T., Otsuki T., Sugiyama T., Irie R., Wakamatsu A., Hayashi K., Sato H., Nagai K., Kimura K., Makita H., Sekine M., Obayashi M., Nishi T., Shibahara T., Tanaka T., Ishii S.
    , Yamamoto J., Saito K., Kawai Y., Isono Y., Nakamura Y., Nagahari K., Murakami K., Yasuda T., Iwayanagi T., Wagatsuma M., Shiratori A., Sudo H., Hosoiri T., Kaku Y., Kodaira H., Kondo H., Sugawara M., Takahashi M., Kanda K., Yokoi T., Furuya T., Kikkawa E., Omura Y., Abe K., Kamihara K., Katsuta N., Sato K., Tanikawa M., Yamazaki M., Ninomiya K., Ishibashi T., Yamashita H., Murakawa K., Fujimori K., Tanai H., Kimata M., Watanabe M., Hiraoka S., Chiba Y., Ishida S., Ono Y., Takiguchi S., Watanabe S., Yosida M., Hotuta T., Kusano J., Kanehori K., Takahashi-Fujii A., Hara H., Tanase T.-O., Nomura Y., Togiya S., Komai F., Hara R., Takeuchi K., Arita M., Imose N., Musashino K., Yuuki H., Oshima A., Sasaki N., Aotsuka S., Yoshikawa Y., Matsunawa H., Ichihara T., Shiohata N., Sano S., Moriya S., Momiyama H., Satoh N., Takami S., Terashima Y., Suzuki O., Nakagawa S., Senoh A., Mizoguchi H., Goto Y., Shimizu F., Wakebe H., Hishigaki H., Watanabe T., Sugiyama A., Takemoto M., Kawakami B., Yamazaki M., Watanabe K., Kumagai A., Itakura S., Fukuzumi Y., Fujimori Y., Komiyama M., Tashiro H., Tanigami A., Fujiwara T., Ono T., Yamada K., Fujii Y., Ozaki K., Hirao M., Ohmori Y., Kawabata A., Hikiji T., Kobatake N., Inagaki H., Ikema Y., Okamoto S., Okitani R., Kawakami T., Noguchi S., Itoh T., Shigeta K., Senba T., Matsumura K., Nakajima Y., Mizuno T., Morinaga M., Sasaki M., Togashi T., Oyama M., Hata H., Watanabe M., Komatsu T., Mizushima-Sugano J., Satoh T., Shirai Y., Takahashi Y., Nakagawa K., Okumura K., Nagase T., Nomura N., Kikuchi H., Masuho Y., Yamashita R., Nakai K., Yada T., Nakamura Y., Ohara O., Isogai T., Sugano S.
    Nat. Genet. 36:40-45(2004) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORMS 4 AND 5), VARIANT SER-668.
    Tissue: Testis.
  4. "The DNA sequence, annotation and analysis of human chromosome 3."
    Muzny D.M., Scherer S.E., Kaul R., Wang J., Yu J., Sudbrak R., Buhay C.J., Chen R., Cree A., Ding Y., Dugan-Rocha S., Gill R., Gunaratne P., Harris R.A., Hawes A.C., Hernandez J., Hodgson A.V., Hume J.
    , Jackson A., Khan Z.M., Kovar-Smith C., Lewis L.R., Lozado R.J., Metzker M.L., Milosavljevic A., Miner G.R., Morgan M.B., Nazareth L.V., Scott G., Sodergren E., Song X.-Z., Steffen D., Wei S., Wheeler D.A., Wright M.W., Worley K.C., Yuan Y., Zhang Z., Adams C.Q., Ansari-Lari M.A., Ayele M., Brown M.J., Chen G., Chen Z., Clendenning J., Clerc-Blankenburg K.P., Chen R., Chen Z., Davis C., Delgado O., Dinh H.H., Dong W., Draper H., Ernst S., Fu G., Gonzalez-Garay M.L., Garcia D.K., Gillett W., Gu J., Hao B., Haugen E., Havlak P., He X., Hennig S., Hu S., Huang W., Jackson L.R., Jacob L.S., Kelly S.H., Kube M., Levy R., Li Z., Liu B., Liu J., Liu W., Lu J., Maheshwari M., Nguyen B.-V., Okwuonu G.O., Palmeiri A., Pasternak S., Perez L.M., Phelps K.A., Plopper F.J., Qiang B., Raymond C., Rodriguez R., Saenphimmachak C., Santibanez J., Shen H., Shen Y., Subramanian S., Tabor P.E., Verduzco D., Waldron L., Wang J., Wang J., Wang Q., Williams G.A., Wong G.K.-S., Yao Z., Zhang J., Zhang X., Zhao G., Zhou J., Zhou Y., Nelson D., Lehrach H., Reinhardt R., Naylor S.L., Yang H., Olson M., Weinstock G., Gibbs R.A.
    Nature 440:1194-1198(2006) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
  5. "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)."
    The MGC Project Team
    Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORMS 2 AND 3).
    Tissue: Lung and Uterus.
  6. "Expression of CLCN voltage-gated chloride channel genes in human blood vessels."
    Lamb F.S., Clayton G.H., Liu B.-X., Smith R.L., Barna T.J., Schutte B.C.
    J. Mol. Cell. Cardiol. 31:657-666(1999) [PubMed] [Europe PMC] [Abstract]
    Cited for: TISSUE SPECIFICITY.
    Tissue: Aortic endothelium and Vascular smooth muscle.
  7. "Voltage-dependent and -independent titration of specific residues accounts for complex gating of a ClC chloride channel by extracellular protons."
    Niemeyer M.I., Cid L.P., Yusef Y.R., Briones R., Sepulveda F.V.
    J. Physiol. (Lond.) 587:1387-1400(2009) [PubMed] [Europe PMC] [Abstract]
    Cited for: FUNCTION.
  8. Cited for: ACETYLATION [LARGE SCALE ANALYSIS] AT ALA-2, IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS], CLEAVAGE OF INITIATOR METHIONINE [LARGE SCALE ANALYSIS].
  9. Cited for: VARIANT GLU-715.
  10. "Alterations in the cytoplasmic domain of CLCN2 result in altered gating kinetics."
    Paul J., Jeyaraj S., Huber S.M., Seebohm G., Boehmer C., Lang F., Kremsner P.G., Kun J.F.J.
    Cell. Physiol. Biochem. 20:441-454(2007) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANTS ARG-48; HIS-68; ALA-199; GLN-646; SER-668; TRP-725 AND HIS-747, CHARACTERIZATION OF VARIANTS ARG-48; HIS-68; ALA-199; GLN-646; TRP-725 AND HIS-747.
  11. "Clinical and genetic familial study of a large cohort of Italian children with idiopathic epilepsy."
    Combi R., Grioni D., Contri M., Redaelli S., Redaelli F., Bassi M.T., Barisani D., Lavitrano M.L., Tredici G., Tenchini M.L., Bertolini M., Dalpra L.
    Brain Res. Bull. 79:89-96(2009) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANT LEU-719.
  12. "Two novel CLCN2 mutations accelerating chloride channel deactivation are associated with idiopathic generalized epilepsy."
    Saint-Martin C., Gauvain G., Teodorescu G., Gourfinkel-An I., Fedirko E., Weber Y.G., Maljevic S., Ernst J.-P., Garcia-Olivares J., Fahlke C., Nabbout R., LeGuern E., Lerche H., Christophe Poncer J., Depienne C.
    Hum. Mutat. 30:397-405(2009) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANTS GLN-235; GLN-577 AND CYS-644, CHARACTERIZATION OF VARIANTS GLN-235; GLN-577 AND CYS-644, FUNCTION.
  13. Cited for: VARIANTS LKPAT 144-LEU-ILE-145 DEL AND VAL-500, CHARACTERIZATION OF VARIANTS LKPAT 144-LEU-ILE-145 DEL AND VAL-500.

Entry informationi

Entry nameiCLCN2_HUMAN
AccessioniPrimary (citable) accession number: P51788
Secondary accession number(s): B4DQT9
, B4DZ58, E9PBD9, E9PCD2, O14864, Q6IPA9, Q8WU13
Entry historyi
Integrated into UniProtKB/Swiss-Prot: October 1, 1996
Last sequence update: February 9, 2010
Last modified: October 29, 2014
This is version 141 of the entry and version 2 of the sequence. [Complete history]
Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

Miscellaneousi

Miscellaneous

The CLC channel family contains both chloride channels and proton-coupled anion transporters that exchange chloride or another anion for protons. The absence of conserved gating glutamate residues is typical for family members that function as channels (By similarity).By similarity

Keywords - Technical termi

Complete proteome, Reference proteome

Documents

  1. Human chromosome 3
    Human chromosome 3: entries, gene names and cross-references to MIM
  2. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  3. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  4. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  5. SIMILARITY comments
    Index of protein domains and families

External Data

Dasty 3