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] See more...

Aliases for CLCN2 Gene

Aliases for CLCN2 Gene

  • Chloride Voltage-Gated Channel 2 2 3 5
  • ClC-2 2 3 4
  • Chloride Channel, Voltage-Sensitive 2 2 3
  • Chloride Channel Protein 2 3 4
  • Chloride Channel 2 2 3
  • CLC2 2 3
  • EJM6 2 3
  • CIC-2 3
  • EGI11 3
  • HALD2 3
  • LKPAT 3
  • CLCN2 5
  • ECA2 3
  • ECA3 3
  • EGI3 3
  • EGMA 3
  • EJM8 3

External Ids for CLCN2 Gene

Previous GeneCards Identifiers for CLCN2 Gene

  • GC03P180523
  • GC03M185057
  • GC03M185466
  • GC03M185385
  • GC03M185546
  • GC03M184063
  • GC03M181470

Summaries for CLCN2 Gene

Entrez Gene Summary for CLCN2 Gene

  • 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]

GeneCards Summary for CLCN2 Gene

CLCN2 (Chloride Voltage-Gated Channel 2) is a Protein Coding gene. Diseases associated with CLCN2 include Leukoencephalopathy With Ataxia and Hyperaldosteronism, Familial, Type Ii. Among its related pathways are Ion channel transport and Activation of cAMP-Dependent PKA. Gene Ontology (GO) annotations related to this gene include ion channel activity and voltage-gated chloride channel activity. An important paralog of this gene is CLCN1.

UniProtKB/Swiss-Prot Summary for CLCN2 Gene

  • 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).

Gene Wiki entry for CLCN2 Gene

No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for CLCN2 Gene

Genomics for CLCN2 Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for CLCN2 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH03J184359 Promoter/Enhancer 2.4 EPDnew Ensembl ENCODE CraniofacialAtlas dbSUPER 257.9 -0.4 -357 6 ZNF207 NCOR1 ZNF600 IKZF1 MYC SIX5 ZNF592 ATF2 POLR2A ZSCAN16 CLCN2 HSALNG0031236 HSALNG0031238 POLR2H lnc-FAM131A-2 KLHL24 CHRD
GH03J184356 Promoter 0.3 EPDnew 250.7 +4.6 4639 0.1 CLCN2 lnc-THPO-2 piR-42527 FAM131A
GH03J184417 Enhancer 1 Ensembl ENCODE 10.8 -56.4 -56376 0.5 BCLAF1 ZNF654 MYC ZNF580 ZBTB10 MXD4 REST ZNF592 TRIM22 BHLHE40 POLR2H RPS3P3 EIF2B5 CHRD THPO DVL3 LINC01840 EPHB3 FAM131A CLCN2
GH03J184541 Enhancer 0.9 Ensembl ENCODE 11.1 -180.2 -180243 1.8 ZNF654 CTCF REST DEK SIN3A ELF1 RAD21 SMC3 YY1 ZNF2 HSALNG0031251 THPO CHRD CLCN2 POLR2H MAGEF1 EIF4G1 FAM131A EPHB3 HSALNG0031250
GH03J184524 Enhancer 0.8 ENCODE 11.3 -164.1 -164117 1.5 EZH2 POLR2A ZIC2 ZBTB10 ZNF341 SP2 ZNF585B YY1 ZBTB48 SPI1 HSALNG0031250 MAGEF1 LINC02054 YEATS2 THPO CHRD LINC01840 CLCN2 POLR2H EPHB3
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around CLCN2 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for CLCN2

Top Transcription factor binding sites by QIAGEN in the CLCN2 gene promoter:
  • AP-1
  • CREB
  • STAT3
  • STAT5A

Genomic Locations for CLCN2 Gene

Latest Assembly
chr3:184,346,185-184,361,650
(GRCh38/hg38)
Size:
15,466 bases
Orientation:
Minus strand

Previous Assembly
chr3:184,063,973-184,079,393
(GRCh37/hg19 by Entrez Gene)
Size:
15,421 bases
Orientation:
Minus strand

chr3:184,063,973-184,079,439
(GRCh37/hg19 by Ensembl)
Size:
15,467 bases
Orientation:
Minus strand

Genomic View for CLCN2 Gene

Genes around CLCN2 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
CLCN2 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for CLCN2 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for CLCN2 Gene

Proteins for CLCN2 Gene

  • Protein details for CLCN2 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P51788-CLCN2_HUMAN
    Recommended name:
    Chloride channel protein 2
    Protein Accession:
    P51788
    Secondary Accessions:
    • B4DQT9
    • B4DZ58
    • E9PBD9
    • E9PCD2
    • O14864
    • Q6IPA9
    • Q8WU13

    Protein attributes for CLCN2 Gene

    Size:
    898 amino acids
    Molecular mass:
    98535 Da
    Quaternary structure:
    No Data Available
    SequenceCaution:
    • Sequence=AAH21578.1; Type=Erroneous translation; Note=Wrong choice of frame.; Evidence={ECO:0000305};
    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).
    • [Isoform 2]: May be produced at very low levels due to a premature stop codon in the mRNA, leading to nonsense-mediated mRNA decay.

    Alternative splice isoforms for CLCN2 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for CLCN2 Gene

Post-translational modifications for CLCN2 Gene

Antibodies for research

  • Boster Bio Antibodies for CLCN2

No data available for DME Specific Peptides for CLCN2 Gene

Domains & Families for CLCN2 Gene

Gene Families for CLCN2 Gene

HGNC:
IUPHAR :
Human Protein Atlas (HPA):
  • Disease related genes
  • FDA approved drug targets
  • Plasma proteins
  • Predicted membrane proteins
  • Transporters

Protein Domains for CLCN2 Gene

InterPro:
Blocks:
  • CBS domain
  • Chloride channel signature
  • CLC-2 chloride channel signature

Suggested Antigen Peptide Sequences for CLCN2 Gene

GenScript: Design optimal peptide antigens:
  • Chloride channel protein 2 (CLCN2_HUMAN)

Graphical View of Domain Structure for InterPro Entry

P51788

UniProtKB/Swiss-Prot:

CLCN2_HUMAN :
  • Belongs to the chloride channel (TC 2.A.49) family. ClC-2/CLCN2 subfamily.
Family:
  • Belongs to the chloride channel (TC 2.A.49) family. ClC-2/CLCN2 subfamily.
genes like me logo Genes that share domains with CLCN2: view

Function for CLCN2 Gene

Molecular function for CLCN2 Gene

UniProtKB/Swiss-Prot Function:
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).
GENATLAS Biochemistry:
chloride voltage-gated channel 2,widely expressed

Phenotypes From GWAS Catalog for CLCN2 Gene

Gene Ontology (GO) - Molecular Function for CLCN2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005244 voltage-gated ion channel activity IEA --
GO:0005247 voltage-gated chloride channel activity IEA,IDA 29403011
GO:0005254 chloride channel activity IEA --
GO:0005515 protein binding IPI --
genes like me logo Genes that share ontologies with CLCN2: view
genes like me logo Genes that share phenotypes with CLCN2: view

Human Phenotype Ontology for CLCN2 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for CLCN2 Gene

MGI Knock Outs for CLCN2:

miRNA for CLCN2 Gene

miRTarBase miRNAs that target CLCN2

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for CLCN2

Clone products for research

No data available for Enzyme Numbers (IUBMB) , Transcription Factor Targets and HOMER Transcription for CLCN2 Gene

Localization for CLCN2 Gene

Subcellular locations from UniProtKB/Swiss-Prot for CLCN2 Gene

Cell membrane. Multi-pass membrane protein.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for CLCN2 gene
Compartment Confidence
plasma membrane 5
extracellular 2
cytoskeleton 1
mitochondrion 1
nucleus 1
endoplasmic reticulum 1
endosome 1
cytosol 1
lysosome 1
golgi apparatus 1
peroxisome 0

Subcellular locations from the

Human Protein Atlas (HPA)

Gene Ontology (GO) - Cellular Components for CLCN2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005886 plasma membrane IEA,TAS --
GO:0005887 integral component of plasma membrane IBA 21873635
GO:0016020 membrane IEA --
GO:0016021 integral component of membrane IEA --
GO:0034707 chloride channel complex IEA --
genes like me logo Genes that share ontologies with CLCN2: view

Pathways & Interactions for CLCN2 Gene

PathCards logo

SuperPathways for CLCN2 Gene

SuperPathway Contained pathways
1 Activation of cAMP-Dependent PKA
.77
.77
.56
2 Ion channel transport
3 Mineral absorption
4 Neuropathic Pain-Signaling in Dorsal Horn Neurons
.40
5 Hepatic ABC Transporters
.41
genes like me logo Genes that share pathways with CLCN2: view

Pathways by source for CLCN2 Gene

1 KEGG pathway for CLCN2 Gene
5 Qiagen pathways for CLCN2 Gene
  • Activation of cAMP-Dependent PKA
  • cAMP Pathway
  • Cholera Infection
  • Hepatic ABC Transporters
  • PKA Signaling

Gene Ontology (GO) - Biological Process for CLCN2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006811 ion transport IEA --
GO:0006821 chloride transport IEA,IBA 21873635
GO:0032347 regulation of aldosterone biosynthetic process IMP 29403011
GO:0034220 ion transmembrane transport TAS --
GO:0034765 regulation of ion transmembrane transport IEA --
genes like me logo Genes that share ontologies with CLCN2: view

No data available for SIGNOR curated interactions for CLCN2 Gene

Drugs & Compounds for CLCN2 Gene

(14) Drugs for CLCN2 Gene - From: DrugBank, ApexBio, DGIdb, IUPHAR, HMDB, and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Lubiprostone Approved, Investigational Pharma Activator, Target, inducer 49
Omeprazole Approved, Investigational, Vet_approved Pharma Activator, inhibitor H+,K+-ATPase inhibitor 457
arachidonic acid Experimental Pharma Activator 41
Chloride ion Experimental Pharma 0
Cobiprostone Investigational Pharma Target 0

(4) Additional Compounds for CLCN2 Gene - From: IUPHAR and Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
DPC
Channel blocker

(4) ApexBio Compounds for CLCN2 Gene

Compound Action Cas Number
9-AC 723-62-6
DCPIB 82749-70-0
GaTx2 194665-85-5
NPPB inhibitor of chloride channel 107254-86-4
genes like me logo Genes that share compounds with CLCN2: view

Drug products for research

Transcripts for CLCN2 Gene

mRNA/cDNA for CLCN2 Gene

4 REFSEQ mRNAs :
16 NCBI additional mRNA sequence :
22 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for CLCN2

Clone products for research

Alternative Splicing Database (ASD) splice patterns (SP) for CLCN2 Gene

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:

Relevant External Links for CLCN2 Gene

GeneLoc Exon Structure for
CLCN2

Expression for CLCN2 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for CLCN2 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for CLCN2 Gene

This gene is overexpressed in Nerve - Tibial (x4.7).

Protein differential expression in normal tissues from HIPED for CLCN2 Gene

This gene is overexpressed in Testis (57.4) and Spinal cord (11.6).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for CLCN2 Gene



Protein tissue co-expression partners for CLCN2 Gene

- Elite partner

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for CLCN2

SOURCE GeneReport for Unigene cluster for CLCN2 Gene:

Hs.436847

mRNA Expression by UniProt/SwissProt for CLCN2 Gene:

P51788-CLCN2_HUMAN
Tissue specificity: 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).

Evidence on tissue expression from TISSUES for CLCN2 Gene

  • Lung(4.4)
  • Muscle(4.3)
  • Eye(4.2)
  • Intestine(2.4)
  • Adrenal gland(2.2)
  • Nervous system(2.1)

Phenotype-based relationships between genes and organs from Gene ORGANizer for CLCN2 Gene

Germ Layers:
  • ectoderm
  • mesoderm
Systems:
  • cardiovascular
  • nervous
  • skeletal muscle
  • skeleton
Regions:
Head and neck:
  • brain
  • head
  • meninges
  • neck
Limb:
  • lower limb
  • upper limb
General:
  • blood vessel
  • peripheral nerve
  • peripheral nervous system
  • spinal cord
genes like me logo Genes that share expression patterns with CLCN2: view

Primer products for research

Orthologs for CLCN2 Gene

This gene was present in the common ancestor of animals.

Orthologs for CLCN2 Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
Mammalia CLCN2 29 30
  • 99.62 (n)
OneToOne
Platypus
(Ornithorhynchus anatinus)
Mammalia -- 30
  • 96 (a)
OneToMany
-- 30
  • 78 (a)
OneToMany
Dog
(Canis familiaris)
Mammalia CLCN2 29 30
  • 91.28 (n)
OneToOne
Cow
(Bos Taurus)
Mammalia CLCN2 29 30
  • 90.14 (n)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Clcn2 29
  • 88.28 (n)
Mouse
(Mus musculus)
Mammalia Clcn2 29 16 30
  • 88.09 (n)
OneToOne
Oppossum
(Monodelphis domestica)
Mammalia CLCN2 30
  • 88 (a)
OneToOne
Chicken
(Gallus gallus)
Aves CLCN2 29 30
  • 75.12 (n)
OneToOne
Lizard
(Anolis carolinensis)
Reptilia -- 30
  • 84 (a)
OneToMany
-- 30
  • 76 (a)
OneToMany
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia clcn2 29
  • 69.43 (n)
Zebrafish
(Danio rerio)
Actinopterygii CLCN2 30
  • 72 (a)
OneToOne
LOC100333644 29
  • 70.35 (n)
African malaria mosquito
(Anopheles gambiae)
Insecta GPRMGL4 29
  • 57.33 (n)
Fruit Fly
(Drosophila melanogaster)
Insecta ClC-a 29 30
  • 55.94 (n)
OneToMany
Worm
(Caenorhabditis elegans)
Secernentea clh-3 29 30 31
  • 49.54 (n)
ManyToMany
clh-2 30
  • 34 (a)
ManyToMany
clh-1 30
  • 32 (a)
ManyToMany
clh-4 30
  • 28 (a)
ManyToMany
Species where no ortholog for CLCN2 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • Alicante grape (Vitis vinifera)
  • Alpha proteobacteria (Wolbachia pipientis)
  • Amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • Baker's yeast (Saccharomyces cerevisiae)
  • Barley (Hordeum vulgare)
  • Beta proteobacteria (Neisseria meningitidis)
  • Bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • Common water flea (Daphnia pulex)
  • Corn (Zea mays)
  • E. coli (Escherichia coli)
  • Filamentous fungi (Aspergillus nidulans)
  • Firmicute Bacteria (Streptococcus pneumoniae)
  • Fission Yeast (Schizosaccharomyces pombe)
  • Green Algae (Chlamydomonas reinhardtii)
  • Honey Bee (Apis mellifera)
  • K. Lactis Yeast (Kluyveromyces lactis)
  • Loblloly Pine (Pinus taeda)
  • Malaria Parasite (Plasmodium falciparum)
  • Medicago Trunc (Medicago Truncatula)
  • Moss (Physcomitrella patens)
  • Orangutan (Pongo pygmaeus)
  • Pig (Sus scrofa)
  • Rainbow Trout (Oncorhynchus mykiss)
  • Rice (Oryza sativa)
  • Rice Blast Fungus (Magnaporthe grisea)
  • Schistosome Parasite (Schistosoma mansoni)
  • Sea Anemone (Nematostella vectensis)
  • Sea Vase (Ciona intestinalis)
  • Sea Squirt (Ciona savignyi)
  • Sea Urchin (Strongylocentrotus purpuratus)
  • Sorghum (Sorghum bicolor)
  • Soybean (Glycine max)
  • Stem Rust Fungus (Puccinia graminis)
  • Sugarcane (Saccharum officinarum)
  • Thale Cress (Arabidopsis thaliana)
  • Tomato (Lycopersicon esculentum)
  • Toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • Wheat (Triticum aestivum)

Evolution for CLCN2 Gene

ENSEMBL:
Gene Tree for CLCN2 (if available)
TreeFam:
Gene Tree for CLCN2 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for CLCN2: view image
Alliance of Genome Resources:
Additional Orthologs for CLCN2

Paralogs for CLCN2 Gene

Paralogs for CLCN2 Gene

(3) SIMAP similar genes for CLCN2 Gene using alignment to 2 proteins:

  • CLCN2_HUMAN
  • H7C0Q8_HUMAN
genes like me logo Genes that share paralogs with CLCN2: view

Variants for CLCN2 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for CLCN2 Gene

SNP ID Clinical significance and condition Chr 03 pos Variation AA Info Type
1028738 Uncertain Significance: Hyperaldosteronism, familial, type II 184,353,344(-) C/T
NM_004366.6(CLCN2):c.1934G>A (p.Arg645Gln)
MISSENSE
1032900 Pathogenic: Leukoencephalopathy with ataxia 184,353,040(-) ACT/A
NM_004366.6(CLCN2):c.2134_2135del (p.Pro713fs)
FRAMESHIFT
1032901 Pathogenic: Leukoencephalopathy with ataxia 184,357,091(-) AAT/A
NM_004366.6(CLCN2):c.985_986del (p.Ile329fs)
FRAMESHIFT
217783 Pathogenic: Leukoencephalopathy with ataxia 184,357,832(-) TGCTTGCGATATGCAC
NM_004366.6(CLCN2):c.64-1107_639del
SPLICE_ACCEPTOR_VARIANT,SPLICE_DONOR
863631 Pathogenic: not provided 184,353,038(-) GGA/G
NM_004366.6(CLCN2):c.2136_2137del (p.Pro713fs)
FRAMESHIFT

dbSNP identifiers (rs#s) for variants without ClinVar clinical significance for CLCN2 Gene

All consequence types are included: molecular consequences (e.g. missense, synonymous), and location-based (e.g. intron, upstream).

Structural Variations from Database of Genomic Variants (DGV) for CLCN2 Gene

Variant ID Type Subtype PubMed ID
esv2422400 CNV duplication 17116639
nsv829813 CNV loss 17160897

Variation tolerance for CLCN2 Gene

Residual Variation Intolerance Score: 43.3% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 11.82; 93.42% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for CLCN2 Gene

Human Gene Mutation Database (HGMD)
CLCN2
SNPedia medical, phenotypic, and genealogical associations of SNPs for
CLCN2
Leiden Open Variation Database (LOVD)
CLCN2

SNP Genotyping and Copy Number Assays for research

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for CLCN2 Gene

Disorders for CLCN2 Gene

MalaCards: The human disease database

(30) MalaCards diseases for CLCN2 Gene - From: OMI, CVR, GTR, ORP, SWI, COP, and GCD

- elite association - COSMIC cancer census association via MalaCards
Search CLCN2 in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

CLCN2_HUMAN
  • 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. {ECO:0000269 PubMed:19191339}. Note=Disease susceptibility is associated with variants 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. {ECO:0000269 PubMed:19710712}. Note=Disease susceptibility may be associated with variants 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. {ECO:0000269 PubMed:19191339}. Note=Disease susceptibility is associated with variants 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. {ECO:0000269 PubMed:23707145}. Note=The disease is caused by variants affecting the gene represented in this entry.
  • Hyperaldosteronism, familial, 2 (HALD2) [MIM:605635]: An 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. {ECO:0000269 PubMed:29403011, ECO:0000269 PubMed:29403012}. Note=The disease is caused by variants affecting the gene represented in this entry.

Additional Disease Information for CLCN2

Human Genome Epidemiology Navigator
(HuGE)
Atlas
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
Open Targets Platform
Open Targets Platform
genes like me logo Genes that share disorders with CLCN2: view

No data available for Genatlas for CLCN2 Gene

Publications for CLCN2 Gene

  1. Two novel CLCN2 mutations accelerating chloride channel deactivation are associated with idiopathic generalized epilepsy. (PMID: 19191339) Saint-Martin C … Depienne C (Human mutation 2009) 3 4 22 40 72
  2. CLCN2 chloride channel mutations in familial hyperaldosteronism type II. (PMID: 29403011) Scholl UI … Lifton RP (Nature genetics 2018) 3 4 72
  3. Brain white matter oedema due to ClC-2 chloride channel deficiency: an observational analytical study. (PMID: 23707145) Depienne C … van der Knaap MS (The Lancet. Neurology 2013) 3 4 72
  4. Alterations in the cytoplasmic domain of CLCN2 result in altered gating kinetics. (PMID: 17762171) Paul J … Kun JF (Cellular physiology and biochemistry : international journal of experimental cellular physiology, biochemistry, and pharmacology 2007) 3 4 22
  5. CLC-2 single nucleotide polymorphisms (SNPs) as potential modifiers of cystic fibrosis disease severity. (PMID: 15507145) Blaisdell CJ … Stine OC (BMC medical genetics 2004) 3 22 40

Products for CLCN2 Gene

Sources for CLCN2 Gene