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Entry version 178 (13 Feb 2019)
Sequence version 2 (09 Feb 2010)
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Protein

Chloride channel protein 2

Gene

CLCN2

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score:

Annotation score:5 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
-Experimental evidence at protein leveli <p>This indicates the type of evidence that supports the existence of the protein. Note that the ‘protein existence’ evidence does not give information on the accuracy or correctness of the sequence(s) displayed.<p><a href='/help/protein_existence' target='_top'>More...</a></p>

<p>This section provides any useful information about the protein, mostly biological knowledge.<p><a href='/help/function_section' target='_top'>More...</a></p>Functioni

Voltage-gated chloride channel. Chloride channels have several functions including the regulation of cell volume, membrane potential stabilization, signal transduction and transepithelial transport. Involved in the regulation of aldosterone production. The opening of CLCN2 channels at hyperpolarized membrane potentials in the glomerulosa causes cell membrane depolarization, activation of voltage-gated Ca2+ channels and increased expression of aldosterone synthase, the rate-limiting enzyme for aldosterone biosynthesis (PubMed:29403011, PubMed:29403012).4 Publications

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

Sites

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Function’ section describes the interaction between a single amino acid and another chemical entity. Priority is given to the annotation of physiological ligands.<p><a href='/help/binding' target='_top'>More...</a></p>Binding sitei162ChlorideBy similarity1
Binding sitei459Chloride; via amide nitrogenBy similarity1
Binding sitei553ChlorideBy similarity1

<p>The <a href="http://www.geneontology.org/">Gene Ontology (GO)</a> project provides a set of hierarchical controlled vocabulary split into 3 categories:<p><a href='/help/gene_ontology' target='_top'>More...</a></p>GO - Molecular functioni

GO - Biological processi

<p>UniProtKB Keywords constitute a <a href="http://www.uniprot.org/keywords">controlled vocabulary</a> with a hierarchical structure. Keywords summarise the content of a UniProtKB entry and facilitate the search for proteins of interest.<p><a href='/help/keywords' target='_top'>More...</a></p>Keywordsi

Molecular functionChloride channel, Ion channel, Voltage-gated channel
Biological processIon transport, Transport
LigandChloride

Enzyme and pathway databases

Reactome - a knowledgebase of biological pathways and processes

More...
Reactomei
R-HSA-2672351 Stimuli-sensing channels

Protein family/group databases

Transport Classification Database

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TCDBi
2.A.49.2.12 the chloride carrier/channel (clc) family

<p>This section provides information about the protein and gene name(s) and synonym(s) and about the organism that is the source of the protein sequence.<p><a href='/help/names_and_taxonomy_section' target='_top'>More...</a></p>Names & Taxonomyi

<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section provides an exhaustive list of all names of the protein, from commonly used to obsolete, to allow unambiguous identification of a protein.<p><a href='/help/protein_names' target='_top'>More...</a></p>Protein namesi
Recommended name:
Chloride channel protein 2
Short name:
ClC-2
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section indicates the name(s) of the gene(s) that code for the protein sequence(s) described in the entry. Four distinct tokens exist: ‘Name’, ‘Synonyms’, ‘Ordered locus names’ and ‘ORF names’.<p><a href='/help/gene_name' target='_top'>More...</a></p>Gene namesi
Name:CLCN2
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section provides information on the name(s) of the organism that is the source of the protein sequence.<p><a href='/help/organism-name' target='_top'>More...</a></p>OrganismiHomo sapiens (Human)
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section shows the unique identifier assigned by the NCBI to the source organism of the protein. This is known as the ‘taxonomic identifier’ or ‘taxid’.<p><a href='/help/taxonomic_identifier' target='_top'>More...</a></p>Taxonomic identifieri9606 [NCBI]
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section contains the taxonomic hierarchical classification lineage of the source organism. It lists the nodes as they appear top-down in the taxonomic tree, with the more general grouping listed first.<p><a href='/help/taxonomic_lineage' target='_top'>More...</a></p>Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section is present for entries that are part of a <a href="http://www.uniprot.org/proteomes">proteome</a>, i.e. of a set of proteins thought to be expressed by organisms whose genomes have been completely sequenced.<p><a href='/help/proteomes_manual' target='_top'>More...</a></p>Proteomesi
  • UP000005640 <p>A UniProt <a href="http://www.uniprot.org/manual/proteomes_manual">proteome</a> can consist of several components. <br></br>The component name refers to the genomic component encoding a set of proteins.<p><a href='/help/proteome_component' target='_top'>More...</a></p> Componenti: Chromosome 3

Organism-specific databases

Eukaryotic Pathogen Database Resources

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EuPathDBi
HostDB:ENSG00000114859.14

Human Gene Nomenclature Database

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HGNCi
HGNC:2020 CLCN2

Online Mendelian Inheritance in Man (OMIM)

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MIMi
600570 gene

neXtProt; the human protein knowledge platform

More...
neXtProti
NX_P51788

<p>This section provides information on the location and the topology of the mature protein in the cell.<p><a href='/help/subcellular_location_section' target='_top'>More...</a></p>Subcellular locationi

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte & Seán O’Donoghue; Source: COMPARTMENTS

Topology

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/help/subcellular_location_section">'Subcellular location'</a> section describes the subcellular compartment where each non-membrane region of a membrane-spanning protein is found.<p><a href='/help/topo_dom' target='_top'>More...</a></p>Topological domaini2 – 87CytoplasmicBy similarityAdd BLAST86
<p>This subsection of the <a href="http://www.uniprot.org/help/subcellular_location_section">'Subcellular location'</a> section describes the extent of a membrane-spanning region of the protein. It denotes the presence of both alpha-helical transmembrane regions and the membrane spanning regions of beta-barrel transmembrane proteins.<p><a href='/help/transmem' target='_top'>More...</a></p>Transmembranei88 – 121HelicalBy similarityAdd BLAST34
Transmembranei130 – 155HelicalBy similarityAdd BLAST26
<p>This subsection of the <a href="http://www.uniprot.org/help/subcellular_location_section">'Subcellular location'</a> section describes the extent of a region that is buried within a membrane, but does not cross it.<p><a href='/help/intramem' target='_top'>More...</a></p>Intramembranei164 – 171HelicalSequence analysis8
Transmembranei180 – 198HelicalBy similarityAdd BLAST19
Transmembranei205 – 223HelicalBy similarityAdd BLAST19
Intramembranei239 – 251HelicalBy similarityAdd BLAST13
Intramembranei255 – 263HelicalBy similarity9
Transmembranei275 – 295HelicalBy similarityAdd BLAST21
Transmembranei321 – 349HelicalBy similarityAdd BLAST29
Transmembranei358 – 377HelicalBy similarityAdd BLAST20
Transmembranei429 – 449HelicalBy similarityAdd BLAST21
Transmembranei457 – 480HelicalBy similarityAdd BLAST24
Intramembranei497 – 511HelicalBy similarityAdd BLAST15
Intramembranei512 – 513Note=Loop between two helicesBy similarity2
Intramembranei514 – 525HelicalBy similarityAdd BLAST12
Intramembranei526 – 530Note=Loop between two helicesBy similarity5
Transmembranei531 – 548HelicalBy similarityAdd BLAST18
Topological domaini549 – 898CytoplasmicBy similarityAdd BLAST350

Keywords - Cellular componenti

Cell membrane, Membrane

<p>This section provides information on the disease(s) and phenotype(s) associated with a protein.<p><a href='/help/pathology_and_biotech_section' target='_top'>More...</a></p>Pathology & Biotechi

<p>This subsection of the ‘Pathology and Biotech’ section provides information on the disease(s) associated with genetic variations in a given protein. The information is extracted from the scientific literature and diseases that are also described in the <a href="http://www.ncbi.nlm.nih.gov/sites/entrez?db=omim">OMIM</a> database are represented with a <a href="http://www.uniprot.org/diseases">controlled vocabulary</a> in the following way:<p><a href='/help/involvement_in_disease' target='_top'>More...</a></p>Involvement in diseasei

Epilepsy, idiopathic generalized 11 (EIG11)1 Publication
Disease susceptibility is associated with variations affecting the gene represented in this entry.
Disease descriptionA 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.
See also OMIM:607628
Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_057890577R → Q in EIG11; associated with disease susceptibility; the mutant channel has accelerated deactivation rates compared to wild-type, but normal activation and peak current. 1 PublicationCorresponds to variant dbSNP:rs137852682EnsemblClinVar.1
Juvenile absence epilepsy 2 (JAE2)1 Publication
Disease susceptibility may be associated with variations affecting the gene represented in this entry.
Disease descriptionA subtype of idiopathic generalized epilepsy characterized by onset occurring around puberty, absence seizures, generalized tonic-clonic seizures (GTCS), GTCS on awakening, and myoclonic seizures.
See also OMIM:607628
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_015989715G → E in JAE2; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs137852681EnsemblClinVar.1
Juvenile myoclonic epilepsy 8 (EJM8)1 Publication
Disease susceptibility is associated with variations affecting the gene represented in this entry.
Disease descriptionA 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.
See also OMIM:607628
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_057889235R → Q in EJM8; associated with disease susceptibility; the mutant channel has accelerated deactivation rates compared to wild-type, but normal activation and peak current. 1 PublicationCorresponds to variant dbSNP:rs71318369EnsemblClinVar.1
Leukoencephalopathy with ataxia (LKPAT)1 Publication
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionAn 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.
See also OMIM:615651
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_070976144 – 145Missing 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 Publication2
Natural variantiVAR_070977500A → 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 PublicationCorresponds to variant dbSNP:rs587777111EnsemblClinVar.1
Hyperaldosteronism, familial, 2 (HALD2)2 Publications
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionAn autosomal dominant disorder characterized by elevated plasma aldosterone level and hypertension of varying severity even within members of the same family. Hypokalemia is observed in some patients. In HALD2, hypertension does not improve with glucocorticoid treatment.
See also OMIM:605635
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_08115422M → K in HALD2; increased voltage-gated chloride currents due to higher channel open probabilities at physiological cell membrane potentials. 1 Publication1
Natural variantiVAR_08115524G → D in HALD2; increased voltage-gated chloride currents; increased aldosterone synthase expression. 1 PublicationCorresponds to variant dbSNP:rs1085307938EnsemblClinVar.1
Natural variantiVAR_08115626Y → N in HALD2; increased voltage-gated chloride currents due to higher channel open probabilitiesat at physiological cell membrane potentials. 1 Publication1
Natural variantiVAR_081157172R → Q in HALD2; increased voltage-gated chloride currents due to higher channel open probabilities at physiological cell membrane potentials; increased aldosterone synthase expression. 1 PublicationCorresponds to variant dbSNP:rs1293789661EnsemblClinVar.1
Natural variantiVAR_081158362Missing in HALD2; increased voltage-gated chloride currents due to higher channel open probabilities at physiological cell membrane potentials. 1 Publication1
Natural variantiVAR_081159865S → R in HALD2; increased voltage-gated chloride currents due to higher channel open probabilities at physiological cell membrane potentials. 1 Publication1

Keywords - Diseasei

Disease mutation, Epilepsy

Organism-specific databases

DisGeNET

More...
DisGeNETi
1181

GeneReviews a resource of expert-authored, peer-reviewed disease descriptions.

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GeneReviewsi
CLCN2

MalaCards human disease database

More...
MalaCardsi
CLCN2
MIMi605635 phenotype
607628 phenotype
615651 phenotype

Open Targets

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OpenTargetsi
ENSG00000114859

Orphanet; a database dedicated to information on rare diseases and orphan drugs

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Orphaneti
307 Juvenile myoclonic epilepsy
363540 Leukoencephalopathy with mild cerebellar ataxia and white matter edema

The Pharmacogenetics and Pharmacogenomics Knowledge Base

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PharmGKBi
PA26547

Chemistry databases

ChEMBL database of bioactive drug-like small molecules

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ChEMBLi
CHEMBL1628478

Drug and drug target database

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DrugBanki
DB01046 Lubiprostone

IUPHAR/BPS Guide to PHARMACOLOGY

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GuidetoPHARMACOLOGYi
699

Polymorphism and mutation databases

BioMuta curated single-nucleotide variation and disease association database

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BioMutai
CLCN2

Domain mapping of disease mutations (DMDM)

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DMDMi
288558807

<p>This section describes post-translational modifications (PTMs) and/or processing events.<p><a href='/help/ptm_processing_section' target='_top'>More...</a></p>PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/help/ptm_processing_section">PTM / Processing</a> section indicates that the initiator methionine is cleaved from the mature protein.<p><a href='/help/init_met' target='_top'>More...</a></p>Initiator methionineiRemovedCombined sources
<p>This subsection of the ‘PTM / Processing’ section describes the extent of a polypeptide chain in the mature protein following processing.<p><a href='/help/chain' target='_top'>More...</a></p>ChainiPRO_00000944332 – 898Chloride channel protein 2Add BLAST897

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘PTM / Processing’ section specifies the position and type of each modified residue excluding <a href="http://www.uniprot.org/manual/lipid">lipids</a>, <a href="http://www.uniprot.org/manual/carbohyd">glycans</a> and <a href="http://www.uniprot.org/manual/crosslnk">protein cross-links</a>.<p><a href='/help/mod_res' target='_top'>More...</a></p>Modified residuei2N-acetylalanineCombined sources1
Modified residuei20PhosphothreonineBy similarity1
Modified residuei712PhosphoserineCombined sources1
Modified residuei758PhosphoserineBy similarity1

<p>This subsection of the <a href="http://www.uniprot.org/help/ptm_processing_section">PTM/processing</a> section describes post-translational modifications (PTMs). This subsection <strong>complements</strong> the information provided at the sequence level or describes modifications for which <strong>position-specific data is not yet available</strong>.<p><a href='/help/post-translational_modification' target='_top'>More...</a></p>Post-translational modificationi

Phosphorylated. Activated by dephosphorylation.By similarity

Keywords - PTMi

Acetylation, Phosphoprotein

Proteomic databases

Encyclopedia of Proteome Dynamics

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EPDi
P51788

jPOST - Japan Proteome Standard Repository/Database

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jPOSTi
P51788

MaxQB - The MaxQuant DataBase

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MaxQBi
P51788

PaxDb, a database of protein abundance averages across all three domains of life

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PaxDbi
P51788

PeptideAtlas

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PeptideAtlasi
P51788

PRoteomics IDEntifications database

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PRIDEi
P51788

ProteomicsDB human proteome resource

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ProteomicsDBi
56385
56386 [P51788-2]
56387 [P51788-3]

PTM databases

iPTMnet integrated resource for PTMs in systems biology context

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iPTMneti
P51788

Comprehensive resource for the study of protein post-translational modifications (PTMs) in human, mouse and rat.

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PhosphoSitePlusi
P51788

<p>This section provides information on the expression of a gene at the mRNA or protein level in cells or in tissues of multicellular organisms.<p><a href='/help/expression_section' target='_top'>More...</a></p>Expressioni

<p>This subsection of the ‘Expression’ section provides information on the expression of a gene at the mRNA or protein level in cells or in tissues of multicellular organisms. By default, the information is derived from experiments at the mRNA level, unless specified ‘at protein level’. <br></br>Examples: <a href="http://www.uniprot.org/uniprot/P92958#expression">P92958</a>, <a href="http://www.uniprot.org/uniprot/Q8TDN4#expression">Q8TDN4</a>, <a href="http://www.uniprot.org/uniprot/O14734#expression">O14734</a><p><a href='/help/tissue_specificity' target='_top'>More...</a></p>Tissue specificityi

Ubiquitously expressed. Moderately expressed in aortic and coronary vascular smooth muscle cells and expressed at a low level in aortic endothelial cells. Expressed in the adrenal gland, predominantly in the zona glomerulosa (PubMed:29403011).2 Publications

Gene expression databases

Bgee dataBase for Gene Expression Evolution

More...
Bgeei
ENSG00000114859 Expressed in 114 organ(s), highest expression level in right testis

ExpressionAtlas, Differential and Baseline Expression

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ExpressionAtlasi
P51788 baseline and differential

Genevisible search portal to normalized and curated expression data from Genevestigator

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Genevisiblei
P51788 HS

Organism-specific databases

Human Protein Atlas

More...
HPAi
CAB009397
HPA014545
HPA024108

<p>This section provides information on the quaternary structure of a protein and on interaction(s) with other proteins or protein complexes.<p><a href='/help/interaction_section' target='_top'>More...</a></p>Interactioni

<p>This subsection of the '<a href="http://www.uniprot.org/help/interaction_section%27">Interaction</a> section provides information about binary protein-protein interactions. The data presented in this section are a quality-filtered subset of binary interactions automatically derived from the <a href="http://www.ebi.ac.uk/intact/">IntAct database</a>. It is updated on a monthly basis. Each binary interaction is displayed on a separate line.<p><a href='/help/binary_interactions' target='_top'>More...</a></p>Binary interactionsi

WithEntry#Exp.IntActNotes
UBQLN1Q9UMX0-23EBI-16431116,EBI-10173939

Protein-protein interaction databases

The Biological General Repository for Interaction Datasets (BioGrid)

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BioGridi
107595, 21 interactors

Protein interaction database and analysis system

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IntActi
P51788, 33 interactors

STRING: functional protein association networks

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STRINGi
9606.ENSP00000265593

<p>This section provides information on the tertiary and secondary structure of a protein.<p><a href='/help/structure_section' target='_top'>More...</a></p>Structurei

3D structure databases

Protein Model Portal of the PSI-Nature Structural Biology Knowledgebase

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ProteinModelPortali
P51788

SWISS-MODEL Repository - a database of annotated 3D protein structure models

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SMRi
P51788

Database of comparative protein structure models

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ModBasei
Search...

MobiDB: a database of protein disorder and mobility annotations

More...
MobiDBi
Search...

<p>This section provides information on sequence similarities with other proteins and the domain(s) present in a protein.<p><a href='/help/family_and_domains_section' target='_top'>More...</a></p>Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/help/family_and_domains_section">Family and Domains</a> section describes the position and type of a domain, which is defined as a specific combination of secondary structures organized into a characteristic three-dimensional structure or fold.<p><a href='/help/domain' target='_top'>More...</a></p>Domaini584 – 642CBS 1PROSITE-ProRule annotationAdd BLAST59
Domaini790 – 850CBS 2PROSITE-ProRule annotationAdd BLAST61

Motif

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Family and Domains’ section describes a short (usually not more than 20 amino acids) conserved sequence motif of biological significance.<p><a href='/help/motif' target='_top'>More...</a></p>Motifi161 – 165Selectivity filter part_1By similarity5
Motifi203 – 207Selectivity filter part_2By similarity5
Motifi457 – 461Selectivity filter part_3By similarity5

Compositional bias

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Family and Domains’ section describes the position of regions of compositional bias within the protein and the particular amino acids that are over-represented within those regions.<p><a href='/help/compbias' target='_top'>More...</a></p>Compositional biasi2 – 6Poly-Ala5

<p>This subsection of the ‘Family and domains’ section provides information about the sequence similarity with other proteins.<p><a href='/help/sequence_similarities' target='_top'>More...</a></p>Sequence similaritiesi

Keywords - Domaini

CBS domain, Repeat, Transmembrane, Transmembrane helix

Phylogenomic databases

evolutionary genealogy of genes: Non-supervised Orthologous Groups

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eggNOGi
KOG0476 Eukaryota
COG0038 LUCA

Ensembl GeneTree

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GeneTreei
ENSGT00940000155439

The HOGENOM Database of Homologous Genes from Fully Sequenced Organisms

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HOGENOMi
HOG000231297

The HOVERGEN Database of Homologous Vertebrate Genes

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HOVERGENi
HBG005332

InParanoid: Eukaryotic Ortholog Groups

More...
InParanoidi
P51788

KEGG Orthology (KO)

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KOi
K05011

Identification of Orthologs from Complete Genome Data

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OMAi
SGMYNIY

Database of Orthologous Groups

More...
OrthoDBi
1131873at2759

Database for complete collections of gene phylogenies

More...
PhylomeDBi
P51788

TreeFam database of animal gene trees

More...
TreeFami
TF300522

Family and domain databases

Gene3D Structural and Functional Annotation of Protein Families

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Gene3Di
1.10.3080.10, 1 hit

Integrated resource of protein families, domains and functional sites

More...
InterProi
View protein in InterPro
IPR000644 CBS_dom
IPR002244 Cl-channel-2
IPR014743 Cl-channel_core
IPR001807 Cl-channel_volt-gated

Pfam protein domain database

More...
Pfami
View protein in Pfam
PF00654 Voltage_CLC, 1 hit

Protein Motif fingerprint database; a protein domain database

More...
PRINTSi
PR00762 CLCHANNEL
PR01113 CLCHANNEL2

Superfamily database of structural and functional annotation

More...
SUPFAMi
SSF81340 SSF81340, 1 hit

PROSITE; a protein domain and family database

More...
PROSITEi
View protein in PROSITE
PS51371 CBS, 2 hits

<p>This section displays by default the canonical protein sequence and upon request all isoforms described in the entry. It also includes information pertinent to the sequence(s), including <a href="http://www.uniprot.org/help/sequence_length">length</a> and <a href="http://www.uniprot.org/help/sequences">molecular weight</a>.<p><a href='/help/sequences_section' target='_top'>More...</a></p>Sequences (5+)i

<p>This subsection of the <a href="http://www.uniprot.org/help/sequences_section">Sequence</a> section indicates if the <a href="http://www.uniprot.org/help/canonical_and_isoforms">canonical sequence</a> displayed by default in the entry is complete or not.<p><a href='/help/sequence_status' target='_top'>More...</a></p>Sequence statusi: Complete.

<p>This subsection of the <a href="http://www.uniprot.org/help/sequences_section">Sequence</a> section indicates if the <a href="http://www.uniprot.org/help/canonical_and_isoforms">canonical sequence</a> displayed by default in the entry is in its mature form or if it represents the precursor.<p><a href='/help/sequence_processing' target='_top'>More...</a></p>Sequence processingi: The displayed sequence is further processed into a mature form.

This entry describes 5 <p>This subsection of the ‘Sequence’ section lists the alternative protein sequences (isoforms) that can be generated from the same gene by a single or by the combination of up to four biological events (alternative promoter usage, alternative splicing, alternative initiation and ribosomal frameshifting). Additionally, this section gives relevant information on each alternative protein isoform.<p><a href='/help/alternative_products' target='_top'>More...</a></p> isoformsi produced by alternative splicing. AlignAdd to basket

This entry has 5 described isoforms and 10 potential isoforms that are computationally mapped.Show allAlign All

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
<p>The checksum is a form of redundancy check that is calculated from the sequence. It is useful for tracking sequence updates.</p> <p>It should be noted that while, in theory, two different sequences could have the same checksum value, the likelihood that this would happen is extremely low.</p> <p>However UniProtKB may contain entries with identical sequences in case of multiple genes (paralogs).</p> <p>The checksum is computed as the sequence 64-bit Cyclic Redundancy Check value (CRC64) using the generator polynomial: x<sup>64</sup> + x<sup>4</sup> + x<sup>3</sup> + x + 1. The algorithm is described in the ISO 3309 standard. </p> <p class="publication">Press W.H., Flannery B.P., Teukolsky S.A. and Vetterling W.T.<br /> <strong>Cyclic redundancy and other checksums</strong><br /> <a href="http://www.nrbook.com/b/bookcpdf.php">Numerical recipes in C 2nd ed., pp896-902, Cambridge University Press (1993)</a>)</p> 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

<p>In eukaryotic reference proteomes, unreviewed entries that are likely to belong to the same gene are computationally mapped, based on gene identifiers from Ensembl, EnsemblGenomes and model organism databases.<p><a href='/help/gene_centric_isoform_mapping' target='_top'>More...</a></p>Computationally mapped potential isoform sequencesi

There are 10 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
A0A1B0GVL9A0A1B0GVL9_HUMAN
Chloride channel protein 2
CLCN2
305Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
A0A1B0GVU4A0A1B0GVU4_HUMAN
Chloride channel protein 2
CLCN2
277Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
A0A1B0GUY6A0A1B0GUY6_HUMAN
Chloride channel protein 2
CLCN2
449Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
A0A1B0GUZ8A0A1B0GUZ8_HUMAN
Chloride channel protein 2
CLCN2
465Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
A0A1B0GV52A0A1B0GV52_HUMAN
Chloride channel protein 2
CLCN2
288Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
A0A1B0GTJ3A0A1B0GTJ3_HUMAN
Chloride channel protein 2
CLCN2
96Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
A0A1B0GVW7A0A1B0GVW7_HUMAN
Chloride channel protein 2
CLCN2
256Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
A0A1B0GWC8A0A1B0GWC8_HUMAN
Chloride channel protein 2
CLCN2
155Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
H7C0Q8H7C0Q8_HUMAN
Chloride channel protein 2
CLCN2
133Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
A0A1B0GTY0A0A1B0GTY0_HUMAN
Chloride channel protein 2
CLCN2
113Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>

<p>This subsection of the ‘Sequence’ section reports difference(s) between the protein sequence shown in the UniProtKB entry and other available protein sequences derived from the same gene.<p><a href='/help/sequence_caution' target='_top'>More...</a></p>Sequence cautioni

The sequence AAH21578 differs from that shown. Reason: Erroneous translation. Wrong choice of frame.Curated

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Sequence’ section reports difference(s) between the canonical sequence (displayed by default in the entry) and the different sequence submissions merged in the entry. These various submissions may originate from different sequencing projects, different types of experiments, or different biological samples. Sequence conflicts are usually of unknown origin.<p><a href='/help/conflict' target='_top'>More...</a></p>Sequence conflicti17Y → H in AAB34722 (PubMed:7795595).Curated1
Sequence conflicti537A → V in AAH21578 (PubMed:15489334).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_08115422M → K in HALD2; increased voltage-gated chloride currents due to higher channel open probabilities at physiological cell membrane potentials. 1 Publication1
Natural variantiVAR_08115524G → D in HALD2; increased voltage-gated chloride currents; increased aldosterone synthase expression. 1 PublicationCorresponds to variant dbSNP:rs1085307938EnsemblClinVar.1
Natural variantiVAR_08115626Y → N in HALD2; increased voltage-gated chloride currents due to higher channel open probabilitiesat at physiological cell membrane potentials. 1 Publication1
Natural variantiVAR_05788648P → R Polymorphism; reduces channel activity. 1 PublicationCorresponds to variant dbSNP:rs115661422EnsemblClinVar.1
Natural variantiVAR_05788768R → H Polymorphism; reduces channel activity. 1 PublicationCorresponds to variant dbSNP:rs61729156EnsemblClinVar.1
Natural variantiVAR_070976144 – 145Missing 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 Publication2
Natural variantiVAR_081157172R → Q in HALD2; increased voltage-gated chloride currents due to higher channel open probabilities at physiological cell membrane potentials; increased aldosterone synthase expression. 1 PublicationCorresponds to variant dbSNP:rs1293789661EnsemblClinVar.1
Natural variantiVAR_057888199G → A Polymorphism; no effect. 1 PublicationCorresponds to variant dbSNP:rs863225248EnsemblClinVar.1
Natural variantiVAR_057889235R → Q in EJM8; associated with disease susceptibility; the mutant channel has accelerated deactivation rates compared to wild-type, but normal activation and peak current. 1 PublicationCorresponds to variant dbSNP:rs71318369EnsemblClinVar.1
Natural variantiVAR_081158362Missing in HALD2; increased voltage-gated chloride currents due to higher channel open probabilities at physiological cell membrane potentials. 1 Publication1
Natural variantiVAR_070977500A → 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 PublicationCorresponds to variant dbSNP:rs587777111EnsemblClinVar.1
Natural variantiVAR_057890577R → Q in EIG11; associated with disease susceptibility; the mutant channel has accelerated deactivation rates compared to wild-type, but normal activation and peak current. 1 PublicationCorresponds to variant dbSNP:rs137852682EnsemblClinVar.1
Natural variantiVAR_057891644R → C Polymorphism; no effect. 1 PublicationCorresponds to variant dbSNP:rs148545588EnsemblClinVar.1
Natural variantiVAR_057892646R → Q Polymorphism; reduces channel activity. 1 PublicationCorresponds to variant dbSNP:rs115961753EnsemblClinVar.1
Natural variantiVAR_054550668T → S3 PublicationsCorresponds to variant dbSNP:rs9820367EnsemblClinVar.1
Natural variantiVAR_015989715G → E in JAE2; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs137852681EnsemblClinVar.1
Natural variantiVAR_054551718E → D. Corresponds to variant dbSNP:rs2228292EnsemblClinVar.1
Natural variantiVAR_058426719S → L Found in a patient with childhood absence epilepsy; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs138573287Ensembl.1
Natural variantiVAR_057893725R → W Polymorphism; slightly faster channel activation. 1 PublicationCorresponds to variant dbSNP:rs114702742EnsemblClinVar.1
Natural variantiVAR_057894747R → H Polymorphism; slightly faster channel activation. 1 PublicationCorresponds to variant dbSNP:rs144164281EnsemblClinVar.1
Natural variantiVAR_081159865S → R in HALD2; increased voltage-gated chloride currents due to higher channel open probabilities at physiological cell membrane potentials. 1 Publication1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Sequence’ section describes the sequence of naturally occurring alternative protein isoform(s). The changes in the amino acid sequence may be due to alternative splicing, alternative promoter usage, alternative initiation, or ribosomal frameshifting.<p><a href='/help/var_seq' target='_top'>More...</a></p>Alternative sequenceiVSP_0078311 – 359Missing in isoform 2. 1 PublicationAdd BLAST359
Alternative sequenceiVSP_04545774 – 117Missing in isoform 4. 1 PublicationAdd BLAST44
Alternative sequenceiVSP_007832443 – 485FWMSA…FPDGI → HLGVWWVKAWLPGSQMEFIR TAAPTGLCLGATLWSGQLRW QER in isoform 2. 1 PublicationAdd BLAST43
Alternative sequenceiVSP_036456466 – 482Missing in isoform 3. 1 PublicationAdd BLAST17
Alternative sequenceiVSP_036455486 – 898Missing in isoform 2. 1 PublicationAdd BLAST413
Alternative sequenceiVSP_045458806 – 834Missing in isoform 5. 1 PublicationAdd BLAST29

Sequence databases

Select the link destinations:

EMBL nucleotide sequence database

More...
EMBLi

GenBank nucleotide sequence database

More...
GenBanki

DNA Data Bank of Japan; a nucleotide sequence database

More...
DDBJi
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

The Consensus CDS (CCDS) project

More...
CCDSi
CCDS3263.1 [P51788-1]
CCDS54690.1 [P51788-4]
CCDS54691.1 [P51788-3]
CCDS54692.1 [P51788-5]

NCBI Reference Sequences

More...
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]

UniGene gene-oriented nucleotide sequence clusters

More...
UniGenei
Hs.436847

Genome annotation databases

Ensembl eukaryotic genome annotation project

More...
Ensembli
ENST00000265593; ENSP00000265593; ENSG00000114859 [P51788-1]
ENST00000344937; ENSP00000345056; ENSG00000114859 [P51788-3]
ENST00000434054; ENSP00000400425; ENSG00000114859 [P51788-4]
ENST00000457512; ENSP00000391928; ENSG00000114859 [P51788-5]

Database of genes from NCBI RefSeq genomes

More...
GeneIDi
1181

KEGG: Kyoto Encyclopedia of Genes and Genomes

More...
KEGGi
hsa:1181

UCSC genome browser

More...
UCSCi
uc003foi.4 human [P51788-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

<p>This section provides links to proteins that are similar to the protein sequence(s) described in this entry at different levels of sequence identity thresholds (100%, 90% and 50%) based on their membership in UniProt Reference Clusters (<a href="http://www.uniprot.org/help/uniref">UniRef</a>).<p><a href='/help/similar_proteins_section' target='_top'>More...</a></p>Similar proteinsi

<p>This section is used to point to information related to entries and found in data collections other than UniProtKB.<p><a href='/help/cross_references_section' target='_top'>More...</a></p>Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
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

3D structure databases

ProteinModelPortaliP51788
SMRiP51788
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi107595, 21 interactors
IntActiP51788, 33 interactors
STRINGi9606.ENSP00000265593

Chemistry databases

ChEMBLiCHEMBL1628478
DrugBankiDB01046 Lubiprostone
GuidetoPHARMACOLOGYi699

Protein family/group databases

TCDBi2.A.49.2.12 the chloride carrier/channel (clc) family

PTM databases

iPTMnetiP51788
PhosphoSitePlusiP51788

Polymorphism and mutation databases

BioMutaiCLCN2
DMDMi288558807

Proteomic databases

EPDiP51788
jPOSTiP51788
MaxQBiP51788
PaxDbiP51788
PeptideAtlasiP51788
PRIDEiP51788
ProteomicsDBi56385
56386 [P51788-2]
56387 [P51788-3]

Protocols and materials databases

Structural Biology KnowledgebaseSearch...

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]

Organism-specific databases

Comparative Toxicogenomics Database

More...
CTDi
1181
DisGeNETi1181
EuPathDBiHostDB:ENSG00000114859.14

GeneCards: human genes, protein and diseases

More...
GeneCardsi
CLCN2
GeneReviewsiCLCN2
HGNCiHGNC:2020 CLCN2
HPAiCAB009397
HPA014545
HPA024108
MalaCardsiCLCN2
MIMi600570 gene
605635 phenotype
607628 phenotype
615651 phenotype
neXtProtiNX_P51788
OpenTargetsiENSG00000114859
Orphaneti307 Juvenile myoclonic epilepsy
363540 Leukoencephalopathy with mild cerebellar ataxia and white matter edema
PharmGKBiPA26547

GenAtlas: human gene database

More...
GenAtlasi
Search...

Phylogenomic databases

eggNOGiKOG0476 Eukaryota
COG0038 LUCA
GeneTreeiENSGT00940000155439
HOGENOMiHOG000231297
HOVERGENiHBG005332
InParanoidiP51788
KOiK05011
OMAiSGMYNIY
OrthoDBi1131873at2759
PhylomeDBiP51788
TreeFamiTF300522

Enzyme and pathway databases

ReactomeiR-HSA-2672351 Stimuli-sensing channels

Miscellaneous databases

ChiTaRS: a database of human, mouse and fruit fly chimeric transcripts and RNA-sequencing data

More...
ChiTaRSi
CLCN2 human

The Gene Wiki collection of pages on human genes and proteins

More...
GeneWikii
CLCN2

Database of phenotypes from RNA interference screens in Drosophila and Homo sapiens

More...
GenomeRNAii
1181

Protein Ontology

More...
PROi
PR:P51788

The Stanford Online Universal Resource for Clones and ESTs

More...
SOURCEi
Search...

Gene expression databases

BgeeiENSG00000114859 Expressed in 114 organ(s), highest expression level in right testis
ExpressionAtlasiP51788 baseline and differential
GenevisibleiP51788 HS

Family and domain databases

Gene3Di1.10.3080.10, 1 hit
InterProiView protein in InterPro
IPR000644 CBS_dom
IPR002244 Cl-channel-2
IPR014743 Cl-channel_core
IPR001807 Cl-channel_volt-gated
PfamiView protein in Pfam
PF00654 Voltage_CLC, 1 hit
PRINTSiPR00762 CLCHANNEL
PR01113 CLCHANNEL2
SUPFAMiSSF81340 SSF81340, 1 hit
PROSITEiView protein in PROSITE
PS51371 CBS, 2 hits

ProtoNet; Automatic hierarchical classification of proteins

More...
ProtoNeti
Search...

<p>This section provides general information on the entry.<p><a href='/help/entry_information_section' target='_top'>More...</a></p>Entry informationi

<p>This subsection of the ‘Entry information’ section provides a mnemonic identifier for a UniProtKB entry, but it is not a stable identifier. Each reviewed entry is assigned a unique entry name upon integration into UniProtKB/Swiss-Prot.<p><a href='/help/entry_name' target='_top'>More...</a></p>Entry nameiCLCN2_HUMAN
<p>This subsection of the ‘Entry information’ section provides one or more accession number(s). These are stable identifiers and should be used to cite UniProtKB entries. Upon integration into UniProtKB, each entry is assigned a unique accession number, which is called ‘Primary (citable) accession number’.<p><a href='/help/accession_numbers' target='_top'>More...</a></p>AccessioniPrimary (citable) accession number: P51788
Secondary accession number(s): B4DQT9
, B4DZ58, E9PBD9, E9PCD2, O14864, Q6IPA9, Q8WU13
<p>This subsection of the ‘Entry information’ section shows the date of integration of the entry into UniProtKB, the date of the last sequence update and the date of the last annotation modification (‘Last modified’). The version number for both the entry and the <a href="http://www.uniprot.org/help/canonical_and_isoforms">canonical sequence</a> are also displayed.<p><a href='/help/entry_history' target='_top'>More...</a></p>Entry historyiIntegrated into UniProtKB/Swiss-Prot: October 1, 1996
Last sequence update: February 9, 2010
Last modified: February 13, 2019
This is version 178 of the entry and version 2 of the sequence. See complete history.
<p>This subsection of the ‘Entry information’ section indicates whether the entry has been manually annotated and reviewed by UniProtKB curators or not, in other words, if the entry belongs to the Swiss-Prot section of UniProtKB (<strong>reviewed</strong>) or to the computer-annotated TrEMBL section (<strong>unreviewed</strong>).<p><a href='/help/entry_status' target='_top'>More...</a></p>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.

<p>This section contains any relevant information that doesn’t fit in any other defined sections<p><a href='/help/miscellaneous_section' target='_top'>More...</a></p>Miscellaneousi

Keywords - Technical termi

Complete proteome, Reference proteome

Documents

  1. SIMILARITY comments
    Index of protein domains and families
  2. Human chromosome 3
    Human chromosome 3: entries, gene names and cross-references to MIM
  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. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
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