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Category Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21

GIFtS
-

CLCN2 Gene

protein-coding GIFtS: 66
GCID: GC03M184063

chloride channel, voltage-sensitive 2

(Previous name: chloride channel 2 )

Explore 19 diseases affiliated with
CLCN2 via

MalaCards

our new
Human Malady Compendium

(According to ¹HGNC, ²Entrez Gene,
³UniProtKB/Swiss-Prot, ⁴UniProtKB/TrEMBL, ⁵OMIM, ⁶GeneLoc, ⁷Ensembl, ⁸DME, ⁹miRBase, and/or ¹⁰fRNAdb)
About This Section

Aliases
Chloride Channel, Voltage-Sensitive 2¹ ²		EGMA² ⁵
CLC2¹ ²		EJM8² ⁵
EJM6¹ ²		CIC-2²
Chloride Channel 2¹ ²		ECA3²
ClC-2¹ ³		EGI3²
ECA2² ⁵		Chloride Channel Protein 2²
EGI11² ⁵		ClC-2¹ ³

External Ids:	HGNC: 2020¹	Entrez Gene: 1181²	Ensembl: ENSG00000114859⁷	OMIM: 600570⁵	UniProtKB: P51788³

Export aliases for CLCN2 gene to outside databases

Previous GC identifers: GC03P180523 GC03M185057 GC03M185466 GC03M185385 GC03M185546 GC03M181470

(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

Entrez Gene summary for CLCN2:

This gene encodes a voltage-gated chloride channel. The encoded protein is a transmembrane protein that maintains

chloride ion homeostasis in various cells. Defects in this gene may be a cause of certain epilepsies. Four transcript

variants encoding different isoforms have been found for this gene. (provided by RefSeq, Mar 2012)

UniProtKB/Swiss-Prot: CLCN2_HUMAN, P51788

Function: Voltage-gated chloride channel. Chloride channels have several functions including the regulation of cell

volume; membrane potential stabilization, signal transduction and transepithelial transport

Gene Wiki entry for CLCN2

(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section

RefSeq DNA sequence:

NC_000003.11 NC_018914.1 NT_005612.16

Regulatory elements:

SABiosciences Regulatory transcription factor binding sites in the CLCN2 gene promoter:
CREB AP-1 STAT3 STAT5A
Other transcription factors

SwitchGear Promoter luciferase reporter plasmid: CLCN2 promoter sequence

Search SABiosciences Chromatin IP Primers for CLCN2

Epigenetics:

QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat CLCN2

Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 3q27-q28 Ensembl cytogenetic band: 3q27.1 HGNC cytogenetic band: 3q26-qter

CLCN2 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
CLCN2 gene location

GeneLoc information about chromosome 3 GeneLoc Exon Structure

GeneLoc location for GC03M184063: view genomic region (about GC identifiers)

Start:	184,063,973 bp from pter	End:	184,079,439 bp from pter
Size:	15,467 bases	Orientation:	minus strand

(According to ¹UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to ²PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE MOPED and PaxDb, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Uscn,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Uscn, Ontologies according to Gene Ontology Consortium 01 Mar 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, and/or Uscn)
About This Section

UniProtKB/Swiss-Prot: CLCN2_HUMAN, P51788 (See protein sequence)

Recommended Name: Chloride channel protein 2

Size: 898 amino acids; 98535 Da

Subcellular location: Membrane; Multi-pass membrane protein

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)

Sequence caution: Sequence=AAH21578.1; Type=Erroneous translation; Note=Wrong choice of frame;

Secondary accessions: B4DQT9 B4DZ58 E9PBD9 E9PCD2 O14864 Q6IPA9 Q8WU13

Alternative splicing: 5 isoforms: P51788-1 P51788-2 P51788-3 P51788-4 P51788-5 (No experimental confirmation available)

Explore the universe of human proteins at neXtProt for CLCN2: NX_P51788

Post-translational modifications:

View modification sites using PhosphoSitePlus²

View neXtProt modification sites for NX_P51788

CLCN2 Protein expression data from MOPED and PaxDb: About this image

REFSEQ proteins (4 alternative transcripts):

NP_001164558.1 NP_001164559.1 NP_001164560.1 NP_004357.3

ENSEMBL proteins:

ENSP00000265593 ENSP00000345056 ENSP00000396231 ENSP00000400425 ENSP00000391928

ENSP00000412226

Reactome Protein details: P51788
Human Recombinant Protein Products:

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	Uscn Proteins for CLCN2

Gene Ontology (GO): 5 cellular component terms (GO ID links to tree view): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0016020	membrane	--	--
GO:0016021	integral to membrane	--	--
GO:0030425	dendrite	--	--
GO:0034707	chloride channel complex	IEA	--
GO:0043204	perikaryon	--	--

CLCN2 for ontologies About GeneDecksing

CLCN2 Antibody Products:

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	Uscn ELISAs and CLIAs for CLCN2

(According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
About This Section

CLCN2 for domains About GeneDecksing

4 InterPro domains/families:

IPR014743 Cl-channel_core

IPR000644 Cysta_beta_synth_core

IPR002244 Cl-channel-2

IPR001807 Cl-channel_volt-gated

Graphical View of Domain Structure for InterPro Entry P51788

ProtoNet protein and cluster: P51788

3 Blocks protein families:

IPB000644 CBS domain

IPB001807 Chloride channel signature

IPB002244 CLC-2 chloride channel signature

UniProtKB/Swiss-Prot: CLCN2_HUMAN, P51788

Similarity: Belongs to the chloride channel (TC 2.A.49) family. ClC-2/CLCN2 subfamily

Similarity: Contains 2 CBS domains

(According to ¹UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or ²DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013,
bound targets from SABiosciences, miRNA Gene Targets from miRTarBase shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene.)
About This Section

Function Summary:

UniProtKB/Swiss-Prot: CLCN2_HUMAN, P51788

Function: Voltage-gated chloride channel. Chloride channels have several functions including the regulation of cell

volume; membrane potential stabilization, signal transduction and transepithelial transport

Genatlas biochemistry entry for CLCN2:

chloride voltage-gated channel 2,widely expressed

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Gene Editing
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In Situ Assay
Products:

Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for CLCN2

Gene Ontology (GO): 1 molecular function term (GO ID links to tree view): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0005247	voltage-gated chloride channel activity	IEA	--

CLCN2 for ontologies About GeneDecksing

1 GenomeRNAi human phenotype for CLCN2:

Increased S DNA content

Animal Models:
Mouse knock-outs for CLCN2: Clcn2^tm1Tjj Clcn2^tm1Mlv
10 MGI mutant phenotypes (inferred from 3 alleles) (MGI details for Clcn2):

behavior/neurological	cardiovascular system	digestive/alimentary	endocrine/exocrine gland	homeostasis/metabolism
immune system	nervous system	pigmentation	reproductive system	vision/eye

CLCN2 for phenotypes About GeneDecksing

(Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, and/or STRING, Interactions according to ¹UniProtKB, ²MINT, ³I2D, and/or ⁴STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene).
About This Section

Unified GeneCards pathways - 5/6 super-pathways (see all 6) About this table

See pathways by source

Super-pathway

contained gene-specific pathways

Activation of cAMP-Dependent PKA

	Activation of cAMP-Dependent PKA	1.00			PKA Signaling	0.56
	cAMP Pathway	0.77

Ion channel transport

Ion channel transport

1.00

Stimuli-sensing channels

0.49

Hepatic ABC Transporters

Hepatic ABC Transporters

1.00

Mineral absorption

Mineral absorption

1.00

SLC-mediated transmembrane transport

Transmembrane transport of small molecules

0.50

Pathway sources
See GeneCards unified pathways
Show all pathways

5 Downloadable PowerPoint Slides of QIAGEN Pathway Central Maps for CLCN2

	Cholera Infection
	Hepatic ABC Transporters
	PKA Signaling
	cAMP Pathway
	Activation of cAMP-Dependent PKA

3 Reactome Pathways for CLCN2

	Transmembrane transport of small molecules
	Stimuli-sensing channels
	Ion channel transport

1 Kegg Pathway (Kegg details for CLCN2):

Mineral absorption

CLCN2 for pathways About GeneDecksing

Interactions:

SABiosciences Gene Network Central^TM Interacting Genes and Proteins Network for CLCN2

STRING Interaction Network Preview (showing 3 interactants - click image to see more details)

3 Interacting proteins for CLCN2 (ENSP00000265593⁴) via UniProtKB, MINT, STRING, and/or I2D

Interactant		Interaction Details
GeneCard	External ID(s)	Interaction Details
PPP1CA	ENSP00000326031⁴	STRING: ENSP00000326031
UBC	ENSP00000344818⁴	STRING: ENSP00000344818
CRBN	ENSP00000231948⁴	STRING: ENSP00000231948

About this table

Gene Ontology (GO): 5 biological process terms (GO ID links to tree view): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0006810	transport	TAS	7795595
GO:0006821	chloride transport	--	--
GO:0030324	lung development	--	--
GO:0060041	retina development in camera-type eye	IEA	--
GO:0060689	cell differentiation involved in salivary gland development	IEA	--

CLCN2 for ontologies About GeneDecksing

(Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
About This Section

CLCN2 for compounds About GeneDecksing

Browse Small Molecules at EMD Millipore

Browse drugs & compounds from Enzo Life Sciences

Browse Tocris compounds for CLCN2

1 HMDB Compound for CLCN2 About this table

Compound	Synonyms	CAS #	PubMed Ids
Chlorine	Cl2 (see all 13)	16887-00-6	--

1 DrugBank Compound for CLCN2 About this table

Compound	Synonyms	CAS #	Type	Actions	PubMed Ids
Lubiprostone	--	136790-76-6	target	inducer	15991886 17509103 17053162 17263187 18686757 17413599 11752352 20345211 19236188 17519292

6 Novoseek chemical compound relationships for CLCN2 gene About this table

Compound	-log (P-Val)	Hits	PubMed IDs for Articles with Shared Sentences (# sentences)
lubiprostone	95.8	13	19444393 (1), 15991886 (1), 17263187 (1), 19577749 (1) (see all 10)
chloride	84.5	74	11068136 (5), 11883714 (3), 11076524 (2), 11104687 (2) (see all 31)
halide	52.3	1	10050002 (1)
atp	0	4	17620322 (4)
sodium	0	1	19090733 (1)
hydrogen	0	1	16034421 (1)

Search CenterWatch for drugs/clinical trials and news about CLCN2

(Secondary structures according to fRNAdb,
GenBank/EMBL/DDBJ Accessions according to
Unigene (Build 235 Homo sapiens; Mar 10 2013) or GenBank,
RefSeq according to Entrez Gene,
DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
RNAi Products from EMD Millipore,
siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, SABiosciences, and/or QIAGEN )
About This Section

REFSEQ mRNAs for CLCN2 gene (4 alternative transcripts):

NM_001171087.2 NM_001171088.2 NM_001171089.2 NM_004366.5

Unigene Cluster for CLCN2:

Chloride channel, voltage-sensitive 2

Hs.436847 [show with all ESTs]

Unigene Representative Sequence: NM_004366

10 Ensembl transcripts including schematic representations, and UCSC links where relevant:

ENST00000265593(uc003foh.3 uc010hya.2 uc003foi.3 uc011brl.2 uc011brm.2)

ENST00000344937 ENST00000430397 ENST00000434054 ENST00000457512 ENST00000491162

ENST00000485667(uc011brn.1) ENST00000475279 ENST00000465231 ENST00000423355

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		hsa-miR-3163 hsa-miR-3653 hsa-miR-216b hsa-miR-138-2* hsa-miR-1273d hsa-miR-3658 hsa-miR-3675-3p hsa-miR-889

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Additional cDNA sequence:

AF026004.1 AK298952.1 AK302759.1 BC021578.1 BC072004.1

7 DOTS entries:

DT.100711929 DT.102823139 DT.91722254 DT.120865053 DT.86853834 DT.91722229 DT.316476

24/83 AceView cDNA sequences (see all 83):

BQ952887 AI540201 BM970808 BM716763 AI681838 BM674392 AF026004 AI570993

BQ927284 CD618592 BC072004 NM_004366 BM971760 F04058 BQ924835 F07799

BU616497 BC021578 BX089717 AW072982 BF002578 AI268458 BE893217 AI970178

GeneLoc Exon Structure

4 Alternative Splicing Database (ASD) splice patterns (SP) for CLCN2 About this scheme

ExUns:	1	^	2	^	3	^	4	^	5	^	6	^	7	^	8	^	9	^	10	^	11	^	12a	·	12b	^	13	^	14	^	15	^	16a	·	16b	^	17a	·	17b	^	18	^	19	^	20a	·	20b	^	21	^	22	^
SP1:																									-																						-
SP2:																									-		-
SP3:
SP4:

ExUns:	23	^	24
SP1:
SP2:
SP3:
SP4:

ECgene alternative splicing isoforms for CLCN2

(RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
About This Section

CLCN2 expression in normal human tissues (normalized intensities)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS
CGAP TAG: CCCGTCAGCC

About this image

CLCN2 expression in embryonic tissues and stem cells

Expression by the Database of Embryonic development, Stem cell research, and Regenerative medicine About this table

1 LifeMap In Vivo Development Anatomical Compartment/Cell

Tissue

Anatomical Compartment

Cell

Category (developmental path)

Eye

Optic Nerve

Eye

Expression:

Positive

Negative

Selective marker

Experimental details:

Curated

Microarrays

In-situ hybridization

See CLCN2 Protein Expression from SPIRE MOPED and PaxDB
Genevestigator expression for CLCN2

SOURCE GeneReport for Unigene cluster: Hs.436847

UniProtKB/Swiss-Prot: CLCN2_HUMAN, P51788

Tissue specificity: Ubiquitously expressed. Moderately expressed in aortic and coronary vascular smooth muscle cells

and expressed at a low level in aortic endothelial cells

SABiosciences Expression via Pathway-Focused PCR Array including CLCN2:

Neuronal Ion Channels in human mouse rat

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In Situ
Assay Products:

Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for CLCN2

(Orthologs according to ^1,2HomoloGene (²older version, for species not in ¹newer version), ³euGenes, ⁴SGD , ⁵MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or ⁶Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
About This Section

This gene was present in the last universal common ancestor (LUCA).

Orthologs for CLCN2 gene from 8/28 species (see all 28) About this table

Organism	Taxonomic classification	Gene	Description	Human Similarity	Orthology Type	Details
chicken (Gallus gallus)	Aves	LOC425295¹	chloride channel protein 2-like	74.91(n) 77.07(a)		425295 XM_423073.3 XP_423073.3
lizard (Anolis carolinensis)	Reptilia	CLCN2⁶	--	76(a)	1 ↔ 1	GL343245.1(9642-37101)
zebrafish (Danio rerio)	Actinopterygii	BM264655.1²	--	72.24(n)		BM264655.1
fruit fly (Drosophila melanogaster)	Insecta	ClC-a¹	Chloride channel-a	55.36(n) 51.97(a)		41428 NM_001104282.2 NP_001097752.1
worm (Caenorhabditis elegans)	Secernentea	clh-3^{1 , 3}	Chloride channel protein³ Protein CLH-3¹	42(a)³ 49.5(n)¹ 46.8(a)¹		II(7218345-7222930)³ 174187¹ NM_001026889.1¹ NP_001022060.1¹
thale cress (Arabidopsis thaliana)	eudicotyledons	CLCF⁶ CLCE⁶	chloride channel protein CLC-e	12(a) 10(a)	possible ortholog possible ortholog	1(20787134-20791189) 4(16835986-16839375)
rice (Oryza sativa)	Liliopsida	-- -- (see all 3)	chloride transporter, chloride channel family, put... chloride transporter, chloride channel family, put... (see all 3)	13(a) 13(a) (see all 3)	possible ortholog possible ortholog (see all 3)	1(29215854-29220762) 8(24636296-24642903)
E. coli (Escherichia coli)	Gamma proteobacteria	clcA⁶ clcB⁶	chloride channel, voltage-gated	18(a) 16(a)	1 ↔ many possible ortholog	Chromosome(175107-176528) Chromosome(1663339-1664595)

ENSEMBL Gene Tree for CLCN2 (if available)
TreeFam Gene Tree for CLCN2 (if available)

(Paralogs according to ¹HomoloGene,
²Ensembl, and ³SIMAP, Pseudogenes according to ⁴Pseudogene.org Build 68)
About This Section

Paralogs for CLCN2 gene

CLCN4² CLCNKB² CLCN6² CLCN5² CLCN1² CLCN7² CLCN3² CLCNKA²

3 SIMAP similar genes for CLCN2 using alignment to 2 protein entries: CLCN2_HUMAN (see all proteins):

CLCN1 CLCNKA CLCNKB

CLCN2 for paralogs About GeneDecksing

(SNPs/Variants according to the ¹NCBI SNP Database, ²Ensembl, ³PupaSUITE, UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
About This Section

SNP ID	Valid	Clinical significance	Chr 3 pos	Sequence	#	AA Chg	Type	More	#	Allele freq	Pop	Total sample	More
Genomic Data					Transcription Related Data				Allele Frequencies
				--	--	--		--	--
rs137852682^1,2	C,F	other	184071575(-)	`GTACCG/AGGTGC`	8	/Q /R	mis¹		2		NA EU	4563
rs71318369^1,2	C,F,	other	184075476(+)	`TGTTCC/TGGGAT`	8	Q R	mis¹		4		NA EU	5831
rs115814070^1,2	F,	--	184063489(+)	`CTCCTA/TGGATG`	6	--	ds500¹ ut3¹		1		WA	118
rs138276969^1,2		--	184063492(+)	`CTAGGA/TTGTGC`	6	--	ut3¹ ds500¹		0	--	--	--	--
rs141913527^1,2		--	184063543(+)	`TTCACA/GCAGAG`	6	--	ut3¹ ds500¹		0	--	--	--	--
rs111875352^1,2	C,	--	184063644(+)	`CAGGGG/ATGGCC`	6	--	ut3¹ ds500¹		2		NA	122
rs17774396^1,2	C,F,H,	--	184063775(+)	`AAGGCT/CACAGT`	6	--	ds500¹ ut3¹		15		NA EA NS	1582
rs9944^1,2	C,F,A,H,	--	184063791(-)	`TGGGGC/TGGGGC`	6	--	ds500¹ ut3¹		25		MN EA NS NA WA CSA	3077
rs150244235^1,2		--	184064099(+)	`TAAACC/TCATCT`	6	--	int¹ ut3¹		0	--	--	--	--
rs184669660^1,2		--	184064105(+)	`CATCTC/TAGTTC`	6	--	ut3¹ int¹		0	--	--	--	--

HapMap Linkage Disequilibrium report for CLCN2 (184063973 - 184079439 bp)
Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
Database of Genomic Variants (DGV): 1 variation for CLCN2
1 CNV: 5215
Human Gene Mutation Database (HGMD): CLCN2

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(in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
About This Section

CLCN2 for disorders           About GeneDecksing

OMIM gene information: 600570
OMIM disorders: 607628
UniProtKB/Swiss-Prot: CLCN2_HUMAN, P51788

Defects in CLCN2 are associated with susceptibility to epilepsy, idiopathic generalized type 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

Defects in CLCN2 are associated with juvenile absence epilepsy type 2 (JAE2) [MIM:607628]. JAE is a subtype of

idiopathic generalized epilepsy (IGE) characterized by onset occurring around puberty, absence seizures, generalized

tonic-clonic seizures (GTCS), GTCS on awakening and myoclonic seizures

Defects in CLCN2 are associated with juvenile myoclonic epilepsy type 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

19 diseases for CLCN2: About MalaCards

epilepsy, juvenile absence, susceptibility to, 2 cornelia de lange syndrome absence epilepsy childhood absence epilepsy

juvenile myoclonic epilepsy idiopathic generalized epilepsy generalized epilepsy irritable bowel syndrome

malignant glioma cystic fibrosis osteochondrosis constipation

epilepsy syndrome fibrosis diarrhea blindness

retinitis malaria neuronitis

2 diseases from the University of Copenhagen DISEASES database for CLCN2:

Juvenile absence epilepsy Idiopathic generalized epilepsy

5 Novoseek disease relationships for CLCN2 gene About this table

Disease	-log (P-Val)	Hits	PubMed IDs for Articles with Shared Sentences (# sentences)
cystic fibrosis	57.8	7	11401826 (2), 19926984 (1), 15507145 (1), 10932070 (1) (see all 5)
malignant glioma	25.1	2	16831268 (1), 12843258 (1)
epilepsy	20.2	7	19191339 (2), 16526942 (1), 17008177 (1)
shock	5.99	3	11104687 (1), 15939036 (1), 9929373 (1)
glioma	1.95	6	12843258 (3), 16831268 (2)

Genetic Association Database (GAD): CLCN2
Human Genome Epidemiology (HuGE) Navigator: CLCN2 (5 documents)

Export disorders for CLCN2 gene to outside databases

(in PubMed. Associations of this gene to articles via ¹Entrez Gene, ²UniProtKB/Swiss-Prot, ³HGNC, ⁴GAD, ⁵PharmGKB, ⁶HMDB, ⁷DrugBank, ⁸UniProtKB/TrEMBL, ⁹ Novoseek, and/or ¹⁰fRNAdb)
About This Section

PubMed articles for CLCN2 gene, integrated from 9 sources (see all 104):
(articles sorted by number of sources associating them with CLCN2)

Utopia: connect your pdf to the dynamic
world of online information

Cloning of a putative human voltage-gated chloride channel (ClC-2) cDNA widely expressed in human tissues. (PubMed id 7795595)^{1, 2, 3} Cid L.P....Cutting G.R. (1995)
CLC-2 single nucleotide polymorphisms (SNPs) as potential modifiers of cystic fibrosis disease severity. (PubMed id 15507145)^{1, 4, 9} Blaisdell C.J....Stine O.C. (2004)
Two novel CLCN2 mutations accelerating chloride channel deactivation are associated with idiopathic generalized epilepsy. (PubMed id 19191339)^{1, 2, 9} Saint-Martin C....Depienne C. (2009)
Alterations in the cytoplasmic domain of CLCN2 result in altered gating kinetics. (PubMed id 17762171)^{1, 2, 9} Paul J.... Kun J.F.J. (2007)
Expression of CLCN voltage-gated chloride channel genes in human blood vessels. (PubMed id 10198195)^{1, 2, 9} Lamb F.S....Schutte B.C. (1999)
The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)^{1, 2} Gerhard D.S....Malek J. (2004)
Association between Hsp90 and the ClC-2 chloride channel upregulates channel function. (PubMed id 16049054)^{1, 9} Hinzpeter A....Fritsch J. (2006)
Possible role of transforming growth factor beta and interleukin-4 in the up-regulation of CLC-2 and CLC-3 in chronic rhinosinusitis. (PubMed id 17882904)^{1, 9} Li H....Xu G. (2007)
Distribution of ClC-2 chloride channel in rat and human epithelial tissues. (PubMed id 11880269)^{1, 9} Lipecka J....Fritsch J. (2002)
Analysis of CLCN2 as candidate gene for megalencephal ic leukoencephalopathy with subcortical cysts. (PubMed id 20187760)^{1, 9} Scheper G.C....Van der Knaap M.S. (2010)

(in PubMed, OMIM, and NCBI Bookshelf)
About This Section

		AND	OR
Aliases
Disorders
Free Text

Query String		PubMed OMIM NCBI Bookshelf
	(Note: In FireFox, select the above section and copy using Ctrl-C)

(According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
About This Section

Entrez Gene: 1181	HGNC: 2020	AceView: CLCN2	Ensembl:ENSG00000114859	euGenes: HUgn1181
ECgene: CLCN2	Kegg: 1181	H-InvDB: CLCN2

(According to HUGE)
About This Section

(According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
About This Section

Name	Description
PharmGKB entry for CLCN2	Pharmacogenomics, SNPs, Pathways
GeneReviews	http://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/CLCN2

Intellectual Property for CLCN2 gene
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Patent Information for CLCN2 gene:
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chloride channel, voltage-sensitive 2

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chloride channel, voltage-sensitive 2

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