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GeneE
10 sources retrieved Β· Most recent: April 2026 Β· Index updated 15 days ago
β“˜GeneE is for informational purposes only. It is not a substitute for professional medical advice, diagnosis, or treatment.
CLCN2
chloride voltage-gated channel 2
Chromosome 3 Β· 3q27.1
NCBI Gene: 1181Ensembl: ENSG00000114859.17HGNC: HGNC:2020UniProt: P51788
69PubMed Papers
25Diseases
2Drugs
46Pathogenic Variants
FUNCTIONAL ROLE
Ion ChannelTransporter
CLINICAL
FDA Approved TargetOMIM Disease Gene
DATA QUALITY
βœ“ Experimental GO Evidenceβœ“ Swiss-Prot Reviewed
astrocyte end-footbasolateral plasma membraneregulation of aldosterone biosynthetic processvoltage-gated chloride channel activityleukoencephalopathy with mild cerebellar ataxia and white matter edemafamilial hyperaldosteronism type IIConstipationirritable bowel syndrome
✦AI Summary

CLCN2 encodes a voltage-gated, osmosensitive chloride channel that functions as a homodimeric channel with independent ion conduction pathways per subunit, controlled by fast glutamate gates and a slow common gate 123456. In neurons, CLCN2 contributes significantly to resting membrane conductance and prevents chloride accumulation in dendrites during GABAergic signaling 3. In glial cells, CLCN2 associates with HEPACAM/GlialCAM at astrocytic processes to buffer extracellular chloride and potassium, with astrocytic ClC-2 dysfunction impairing oligodendrocyte development through SPP1/CD44 signaling 7. CLCN2 regulates aldosterone biosynthesis in adrenal glomerulosa cells by controlling membrane depolarization and voltage-gated calcium channel activation 568. Loss-of-function CLCN2 mutations cause autosomal recessive leukoencephalopathy with ataxia, characterized by intramyelinic edema and white matter tract involvement 910. Somatic CLCN2 mutations contribute to approximately 10% of aldosterone-producing adenomas and familial hyperaldosteronism type 2 81112. Rare CLCN2 variants associate with familial epilepsy, though their pathogenic significance requires further investigation 13.

Sources cited
1
CLCN2 forms homodimeric voltage-gated chloride channels with double-barreled currents
PMID: 16155254
2
CLCN2 channel gating mechanisms involving fast and slow gates
PMID: 17567819
3
CLCN2 neuronal function in preventing chloride accumulation and glial association with HEPACAM
PMID: 19191339
4
CLCN2 osmosensitive activation upon membrane hyperpolarization
PMID: 23632988
5
CLCN2 regulation of aldosterone synthesis via calcium channel activation
PMID: 29403011
6
CLCN2 ion selectivity and aldosterone production control
PMID: 29403012
7
Astrocytic ClC-2 dysfunction impairs remyelination through SPP1/CD44 pathway
PMID: 40841755
8
Loss-of-function CLCN2 mutations cause leukoencephalopathy with intramyelinic edema
PMID: 31291907
9
CLCN2 mutations cause childhood-onset leukoencephalopathy with ataxia and epilepsy
PMID: 39779341
10
CLCN2 somatic and germline mutations in primary aldosteronism and aldosterone-producing adenomas
PMID: 35139664
11
CLCN2 variants in familial hyperaldosteronism and aldosterone-producing adenomas
PMID: 35841527
12
CLCN2 mutations in benign aldosterone-producing adrenocortical tumors via calcium signaling
PMID: 32507359
13
CLCN2 variants associated with rare familial epilepsy
PMID: 15505175
Disease Associationsβ“˜25
leukoencephalopathy with mild cerebellar ataxia and white matter edemaOpen Targets
0.81Strong
familial hyperaldosteronism type IIOpen Targets
0.77Strong
ConstipationOpen Targets
0.59Moderate
irritable bowel syndromeOpen Targets
0.56Moderate
constipation disorderOpen Targets
0.50Moderate
Chronic painOpen Targets
0.37Weak
intelligenceOpen Targets
0.27Weak
cerebral palsyOpen Targets
0.27Weak
non-alcoholic fatty liver diseaseOpen Targets
0.26Weak
genetic disorderOpen Targets
0.19Weak
smoking initiationOpen Targets
0.18Weak
epilepsyOpen Targets
0.15Weak
SeizureOpen Targets
0.14Weak
hereditary ataxiaOpen Targets
0.12Weak
cerebellar ataxiaOpen Targets
0.12Weak
bipolar disorderOpen Targets
0.12Weak
CNS demyelinationOpen Targets
0.12Weak
familial focal epilepsy with variable fociOpen Targets
0.12Weak
Spastic gaitOpen Targets
0.12Weak
Intellectual disabilityOpen Targets
0.11Weak
Epilepsy, idiopathic generalized 11UniProt
Hyperaldosteronism, familial, 2UniProt
Juvenile absence epilepsy 2UniProt
Juvenile myoclonic epilepsy 8UniProt
Leukoencephalopathy with ataxiaUniProt
Pathogenic Variants46
NM_004366.6(CLCN2):c.1828C>T (p.Arg610Ter)Pathogenic
not provided|Leukoencephalopathy with mild cerebellar ataxia and white matter edema|Epilepsy, idiopathic generalized, susceptibility to, 11;Familial hyperaldosteronism type II;Leukoencephalopathy with mild cerebellar ataxia and white matter edema|CLCN2-related disorder
β˜…β˜…β˜†β˜†2025β†’ Residue 610
NM_004366.6(CLCN2):c.515G>A (p.Arg172Gln)Pathogenic
Familial hyperaldosteronism type II|Epilepsy, idiopathic generalized, susceptibility to, 11;Leukoencephalopathy with mild cerebellar ataxia and white matter edema;Familial hyperaldosteronism type II|not provided
β˜…β˜…β˜†β˜†2025β†’ Residue 172
NM_004366.6(CLCN2):c.1709G>A (p.Trp570Ter)Pathogenic
Leukoencephalopathy with mild cerebellar ataxia and white matter edema|not provided|Epilepsy, idiopathic generalized, susceptibility to, 11;Leukoencephalopathy with mild cerebellar ataxia and white matter edema;Familial hyperaldosteronism type II|Epilepsy, idiopathic generalized, susceptibility to, 11|CLCN2-related disorder
β˜…β˜…β˜†β˜†2025β†’ Residue 570
NM_004366.6(CLCN2):c.668_672del (p.Leu223fs)Pathogenic
Leukoencephalopathy with mild cerebellar ataxia and white matter edema|not provided|Epilepsy, idiopathic generalized, susceptibility to, 11;Familial hyperaldosteronism type II;Leukoencephalopathy with mild cerebellar ataxia and white matter edema|CLCN2-related disorder
β˜…β˜…β˜†β˜†2025β†’ Residue 223
NM_004366.6(CLCN2):c.1412G>A (p.Arg471His)Likely pathogenic
Leukoencephalopathy with mild cerebellar ataxia and white matter edema|not provided|Familial hyperaldosteronism type II|CLCN2-related disorder
β˜…β˜…β˜†β˜†2024β†’ Residue 471
NM_004366.6(CLCN2):c.898+1G>ALikely pathogenic
not provided|Familial hyperaldosteronism type II;Epilepsy, idiopathic generalized, susceptibility to, 11;Leukoencephalopathy with mild cerebellar ataxia and white matter edema|Uterine corpus endometrial carcinoma
β˜…β˜…β˜†β˜†2024
NM_004366.6(CLCN2):c.1143del (p.Gly382fs)Pathogenic
Leukoencephalopathy with mild cerebellar ataxia and white matter edema|not provided|Leukoencephalopathy with mild cerebellar ataxia and white matter edema;Epilepsy, idiopathic generalized, susceptibility to, 11;Familial hyperaldosteronism type II
β˜…β˜…β˜†β˜†2023β†’ Residue 382
NM_004366.6(CLCN2):c.1855G>T (p.Glu619Ter)Pathogenic
CLCN2-related disorder|not provided
β˜…β˜…β˜†β˜†2022β†’ Residue 619
NM_004366.6(CLCN2):c.71G>A (p.Gly24Asp)Pathogenic
not provided|Familial hyperaldosteronism type II
β˜…β˜…β˜†β˜†2017β†’ Residue 24
NM_004366.6(CLCN2):c.1541_1542del (p.Thr514fs)Pathogenic
not provided
β˜…β˜†β˜†β˜†2025β†’ Residue 514
NM_004366.6(CLCN2):c.1116_1123dup (p.Ser375fs)Pathogenic
not provided
β˜…β˜†β˜†β˜†2025β†’ Residue 375
NM_004366.6(CLCN2):c.2257C>T (p.Arg753Ter)Pathogenic
not provided
β˜…β˜†β˜†β˜†2025β†’ Residue 753
NM_004366.6(CLCN2):c.828dup (p.Arg277fs)Pathogenic
Leukoencephalopathy with mild cerebellar ataxia and white matter edema|not provided
β˜…β˜†β˜†β˜†2024β†’ Residue 277
NM_004366.6(CLCN2):c.194del (p.Gly65fs)Likely pathogenic
Epilepsy, idiopathic generalized, susceptibility to, 11;Leukoencephalopathy with mild cerebellar ataxia and white matter edema;Familial hyperaldosteronism type II
β˜…β˜†β˜†β˜†2024β†’ Residue 65
NM_004366.6(CLCN2):c.2408T>A (p.Leu803Ter)Pathogenic
not provided
β˜…β˜†β˜†β˜†2024β†’ Residue 803
NM_004366.6(CLCN2):c.221-2A>GLikely pathogenic
Epilepsy, idiopathic generalized, susceptibility to, 11;Leukoencephalopathy with mild cerebellar ataxia and white matter edema;Familial hyperaldosteronism type II
β˜…β˜†β˜†β˜†2024
NM_004366.6(CLCN2):c.64-1G>ALikely pathogenic
Epilepsy, idiopathic generalized, susceptibility to, 11;Leukoencephalopathy with mild cerebellar ataxia and white matter edema;Familial hyperaldosteronism type II
β˜…β˜†β˜†β˜†2024
NM_004366.6(CLCN2):c.1086-2A>GLikely pathogenic
not provided
β˜…β˜†β˜†β˜†2024
NM_004366.6(CLCN2):c.1069del (p.Arg357fs)Likely pathogenic
Epilepsy, idiopathic generalized, susceptibility to, 11;Leukoencephalopathy with mild cerebellar ataxia and white matter edema;Familial hyperaldosteronism type II
β˜…β˜†β˜†β˜†2024β†’ Residue 357
NM_004366.6(CLCN2):c.925C>T (p.Arg309Ter)Likely pathogenic
Leukoencephalopathy with mild cerebellar ataxia and white matter edema|Epilepsy, idiopathic generalized, susceptibility to, 11;Leukoencephalopathy with mild cerebellar ataxia and white matter edema;Familial hyperaldosteronism type II
β˜…β˜†β˜†β˜†2024β†’ Residue 309
View on ClinVar β†—
Drug Targets2
COBIPROSTONEPhase II
Chloride channel protein 2 activator
portal hypertension
LUBIPROSTONEApproved
Chloride channel protein 2 opener
irritable bowel syndrome
Related Genes
EFHC1Protein interaction92%GABRG2Protein interaction89%GABRA1Protein interaction88%CACNB4Protein interaction80%KCNMB3Protein interaction80%GABRDProtein interaction78%
Tissue Expression6 tissues
Ovary
100%
Bone Marrow
67%
Liver
36%
Brain
18%
Heart
17%
Lung
17%
Gene Interaction Network
Click a node to explore
CLCN2EFHC1GABRG2GABRA1CACNB4KCNMB3GABRD
PROTEIN STRUCTURE
Preparing viewer…
PDB8TA3 Β· 2.46 Γ… Β· EM
View on RCSB β†—
Constraintβ“˜
LOEUFβ“˜
0.79LoF Tolerant
pLIβ“˜
0.00Tolerant
Observed/Expected LoF0.65 [0.53–0.79]
RankingsWhere CLCN2 stands among ~20K protein-coding genes
  • #6,790of 20,598
    Most Researched69
  • #983of 1,025
    FDA-Approved Drug Targets1
  • #1,407of 5,498
    Most Pathogenic Variants46
  • #6,462of 17,882
    Most Constrained (LOEUF)0.79
Genes detectedCLCN2
Sources retrieved10 papers
Response timeβ€”
πŸ“„ Sources
10β–Ό
1
Genetics of Primary Aldosteronism.
PMID: 35139664
Hypertension Β· 2022
1.00
2
CLCN2-related leukoencephalopathy: a case report and review of the literature.
PMID: 31291907
BMC Neurol Β· 2019
0.90
3
Regulatory and disruptive variants in the CLCN2 gene are associated with modified skin color pattern phenotypes in the corn snake.
PMID: 40140900
Genome Biol Β· 2025
0.80
4
Targeting astrocytic CLC2(CLCN2) restores myelin regeneration through inhibition of SPP1/CD44 signaling pathway in leukoencephalopathy.
PMID: 40841755
Mol Psychiatry Β· 2026
0.70
5
Update on the Genetics of Primary Aldosteronism and Aldosterone-Producing Adenomas.
PMID: 35841527
Curr Cardiol Rep Β· 2022
0.60