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P51788

- CLCN2_HUMAN

UniProt

P51788 - CLCN2_HUMAN

Protein

Chloride channel protein 2

Gene

CLCN2

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5- Experimental evidence at protein leveli
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    • History
      Entry version 140 (01 Oct 2014)
      Sequence version 2 (09 Feb 2010)
      Previous versions | rss
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    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

    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

    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.
    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.
    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

    MAAAAAEEGM EPRALQYEQT LMYGRYTQDL GAFAKEEAAR IRLGGPEPWK    50
    GPPSSRAAPE LLEYGRSRCA RCRVCSVRCH KFLVSRVGED WIFLVLLGLL 100
    MALVSWVMDY AIAACLQAQQ WMSRGLNTSI LLQYLAWVTY PVVLITFSAG 150
    FTQILAPQAV GSGIPEMKTI LRGVVLKEYL TLKTFIAKVI GLTCALGSGM 200
    PLGKEGPFVH IASMCAALLS KFLSLFGGIY ENESRNTEML AAACAVGVGC 250
    CFAAPIGGVL FSIEVTSTFF AVRNYWRGFF AATFSAFIFR VLAVWNRDEE 300
    TITALFKTRF RLDFPFDLQE LPAFAVIGIA SGFGGALFVY LNRKIVQVMR 350
    KQKTINRFLM RKRLLFPALV TLLISTLTFP PGFGQFMAGQ LSQKETLVTL 400
    FDNRTWVRQG LVEELEPPST SQAWNPPRAN VFLTLVIFIL MKFWMSALAT 450
    TIPVPCGAFM PVFVIGAAFG RLVGESMAAW FPDGIHTDSS TYRIVPGGYA 500
    VVGAAALAGA VTHTVSTAVI VFELTGQIAH ILPVMIAVIL ANAVAQSLQP 550
    SLYDSIIRIK KLPYLPELGW GRHQQYRVRV EDIMVRDVPH VALSCTFRDL 600
    RLALHRTKGR MLALVESPES MILLGSIERS QVVALLGAQL SPARRRQHMQ 650
    ERRATQTSPL SDQEGPPTPE ASVCFQVNTE DSAFPAARGE THKPLKPALK 700
    RGPSVTRNLG ESPTGSAESA GIALRSLFCG SPPPEAASEK LESCEKRKLK 750
    RVRISLASDA DLEGEMSPEE ILEWEEQQLD EPVNFSDCKI DPAPFQLVER 800
    TSLHKTHTIF SLLGVDHAYV TSIGRLIGIV TLKELRKAIE GSVTAQGVKV 850
    RPPLASFRDS ATSSSDTETT EVHALWGPHS RHGLPREGSP SDSDDKCQ 898
    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.
    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.
    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

    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 1, 2014
    This is version 140 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