1. Gene
  2. CLCN2 - chloride voltage-gated channel 2 Gene

CLCN2 - chloride voltage-gated channel 2 Gene

Homo sapiens

Also known as CLC2; ECA2; ECA3; EGI3; EGMA; EJM6; EJM8; CIC-2; EGI11; HALD2; LKPAT; clC-2

Gene ID: 1181 | Gene type: protein coding

About CLCN2

Cytogenetic location: 3q27.1 Genomic coordinates (GRCh38): 3:184,346,185-184,361,605 (from NCBI)

This gene has 22 transcripts (splice variants), 233 orthologues, 8 paralogues and is associated with 7 phenotypes. Broad expression in testis (RPKM 8.7), colon (RPKM 7.2) and 24 other tissues.

Summary

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]

CLCN2 Products(4)

mRNA Protein Name
NM_001171087.3 NP_001164558.1 chloride channel protein 2 isoform 2
NM_001171088.3 NP_001164559.1 chloride channel protein 2 isoform 3
NM_001171089.3 NP_001164560.1 chloride channel protein 2 isoform 4
NM_004366.6 NP_004357.3 chloride channel protein 2 isoform 1
Gene Ontology
  • Molecular Function
  • Biological Process
  • Cellular Component
Molecular Function GO Annotation Evidence Reference Source
enables chloride channel regulator activity IMP
IMP: Inferred from mutant phenotype
38345841 GOA
enables protein binding IPI
IPI: Inferred from physical interaction
26871637 GOA
enables voltage-gated chloride channel activity IDA
IDA: Inferred from direct assay
16155254 GOA
Biological Process GO Annotation Evidence Reference Source
involved in phagocytosis, engulfment IMP
IMP: Inferred from mutant phenotype
36964785 GOA
involved in regulation of aldosterone biosynthetic process IMP
IMP: Inferred from mutant phenotype
29403011 GOA
Cellular Component GO Annotation Evidence Reference Source
located in astrocyte end-foot IDA
IDA: Inferred from direct assay
22405205 GOA
located in basolateral plasma membrane IDA
IDA: Inferred from direct assay
16155254 GOA
located in myelin sheath IDA
IDA: Inferred from direct assay
22405205 GOA
located in plasma membrane IDA
IDA: Inferred from direct assay
29403011 GOA
EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

CLCN2 Protein Structure

Voltage_CLC

Voltage_CLC: Voltage gated chloride channel (145 - 546)

CBS

CBS: CBS domain (798 - 840)

  • 0
  • 200
  • 400
  • 600
  • 800
  • 898 a.a.
Protein Preferred Names Protein Names

chloride channel protein 2

chloride channel 2

Related Diseases

Diseases Alias
Hyperaldosteronism, Familial, Type Ii

Familial Hyperaldosteronism Type Ii

Familial Hyperaldosteronism Type 2

HALD2

Fh Ii

Fh2

Familial Adrenal Adenoma

Fh-Ii

Fhii

Hyperaldosteronism Familial Type 2

Hyperaldosteronism, Familial, 2

Leukoencephalopathy With Ataxia

LKPAT

Epilepsy, Idiopathic Generalized 11

Epilepsy, Idiopathic Generalized, Susceptibility To, 11

EIG11

Epilepsy, Juvenile Absence 2

Epilepsy, Juvenile Myoclonic 8

Idiopathic Generalized Epilepsy 11

Epilepsy, Juvenile Absence, Susceptibility To, 2

Epilepsy, Juvenile Myoclonic, Susceptibility To, 8

Susceptibility To Idiopathic Generalized Epilepsy 11

Juvenile Absence Epilepsy 2

JAE2

Eja2

Susceptibility To Juvenile Absence Epilepsy 2

Juvenile Myoclonic Epilepsy 8

EJM8

Susceptibility To Juvenile Myoclonic Epilepsy 8

Epilepsy, Idiopathic, Generalized, Susceptibility To, Type 11

Clcn2-Related Leukoencephalopathy

Leukoencephalopathy With Mild Cerebellar Ataxia And White Matter Edema

Leukoencephalopathy With Ataxia

Cc2l

Leukoencephalopathy With White Matter Edema

Lkpat

Epilepsy, Myoclonic Juvenile

Juvenile Myoclonic Epilepsy

Janz Syndrome

Jme

Myoclonic Epilepsy, Juvenile, Susceptibility To, 1

EJM

Myoclonic Epilepsy, Juvenile

Petit Mal, Impulsive

Myoclonic Epilepsy, Juvenile 1

Myoclonic Epilepsy, Juvenile, 1

Adolescent Myoclonic Epilepsy

Juvenile Myoclonus Epilepsy

Juvenile Myoclonic Epilepsy 1

EJM1

Petit Mal Impulsive

Susceptibility To Juvenile Myoclonic Epilepsy 1

Myoclonic Epilepsy Juvenile

Epilepsy, Myoclonic, Juvenile

Myoclonic Epilepsy Of Janz

Jme - [Juvenile Myoclonic Epilepsy]

Juvenile Absence Epilepsy

Epilepsy Juvenile Absence

Jae

Childhood Absence Epilepsy

Absence Epilepsy

Constipation
Megalencephalic Leukoencephalopathy With Subcortical Cysts

Vacuolating Megalencephalic Leukoencephalopathy With Subcortical Cysts

Mlc

Van Der Knaap Disease

Lvm

Leukoencephalopathy With Swelling And Cysts

Megalencephaly-Cystic Leukodystrophy

Megalencephalic Leukodystrophy Megalencephaly-Cystic Leukodystorphy Syndrome

Infantile Leukoencephalopathy And Megalencephaly

Leukoencephalopathy With Swelling And A Discrepantly Mild Course

Vacuolating Leukoencephalopathy

Megalencephalic Leukodystrophy

Megalencephaly-Cystic Leukodystrophy Syndrome

Van Der Knaap Syndrome

Leukoencephalopathy, Megalencephalic, With Subcortical Cysts

Cerebral Palsy

Infantile Cerebral Palsy

Mixed Cerebral Palsy

Palsy Cerebral

Palsy, Cerebral

Cerebral Palsy, Mixed

Anismus
Epilepsy

Epilepsy Syndrome

Epileptic Syndrome

Epilepsies

Symptomatic Epilepsies

Post Traumatic Epilepsy

Traumatic Epilepsy

Traumatic Epileptic

Epilepsy Due To Hippocampal Sclerosis

Epilepsy With Ammon'S Horn Sclerosis

Epilepsy Due To Cortical Dysplasia

Epilepsy Due To Neuronal Migration Disorders

Epilepsy, Idiopathic Generalized

Idiopathic Generalized Epilepsy

Generalised Epilepsy

Epilepsy, Generalized

EIG

Ige

Epilepsy, Idiopathic Generalized, Susceptibility To, 1

Epilepsy, Idiopathic Generalized 1

Epilepsy, Idiopathic Generalized, Susceptibility To

Epilepsy, Idiopathic, Generalized

Epilepsy, Idiopathic, Generalized, Susceptibility To, Type 1

Enterocele

Vaginal Enterocele

Hernia

Hernias

Cystic Fibrosis

Mucoviscidosis

CF

Pseudomonas Aeruginosa, Susceptibility To Chronic Infection By, In Cystic Fibrosis

Pseudomonas Aeruginosa Chronic Infection By, In Cystic Fibrosis

Cystic Fibrosis Lung Disease, Modifier Of

Cystic Fibrosis Of Pancreas

Fibrocystic Disease Of Pancreas

Cf - [Cystic Fibrosis]

Cystic Fibrosis Nos

Fibrocystic Disease

Fibrocystic Disease Of The Pancreas

Mucoviscidosis Of Pancreas

Nonproliferative Fibrocystic Disease

Pancreatic Cystic Fibrosis

Prolapse Of Female Genital Organ
Hypokalemia

Potassium Deficiency

Potassium Deficiency Disorder

Hypopotassemia

Potassium

Potassium [K] Deficiency

Hypokalaemic Syndrome

Hypopotassaemia

Hypopotassaemia Syndrome

Hypokalaemic

Potassium Depletion

Cerebral Arteriopathy, Autosomal Dominant, With Subcortical Infarcts And Leukoencephalopathy, Type 2

CADASIL2

Cadasil 2

Autosomal Dominant Cerebral Arteriopathy With Subcortical Infarcts And Leukoencephalopathy Type 2

Htra1-Related Autosomal Dominant Cerebral Small Vessel Disease

Htra1-Related Autosomal Dominant Cerebral Angiopathy

Cerebral Arteriopathy, Autosomal Dominant, With Subcortical Infarcts And Leukoencephalopathy, 2

Cerebral Arteriopathy With Subcortical Infarcts And Leukoencephalopathy, Autosomal Dominant, 2

Adolescence-Adult Electroclinical Syndrome
Anal Spasm

Proctospasm

Anorectal Spasm

Rectal Spasm

Conn'S Syndrome

Cushing Syndrome

Hyperaldosteronism

Primary Hyperaldosteronism

Hypercortisolism

Primary Aldosteronism

Cushing'S Syndrome

Adrenal Gland Hyperfunction

Conn Syndrome

Hyperadrenalism

Ectopic Acth Syndrome

Hyperadrenocorticism

Cushing Disease

Cushing'S Disease

Adrenal Cortex Adenoma

Corticotroph Pituitary Adenoma

Pituitary Corticotroph Micro-Adenoma

Pituitary-Dependent Cushing Syndrome

Pituitary Acth Hypersecretion

Acth Syndrome, Ectopic

Acth-Secreting Pituitary Adenoma

Adrenal Hyperfunction Resulting From Pituitary Acth Excess

Ectopic Adrenocorticotropic Hormone Syndrome

Nodular Primary Adrenocortical Dysplasia

Pituitary Dependent Cushing Syndrome

Pituitary Cushing Syndrome

Pituitary-Dependant Cushing Syndrome

Pituitary-Dependant Hypercortisolism

Pituitary-Dependant Hypercortisolism Disorder

Aldosteronism Primary

Acth Syndrome Ectopic

Adrenal Cushing'S Syndrome

Adrenal Cortical Adenoma

Cushing Syndrome Nos

Cortisol Hypersecretion

Corticoadrenal Hypersecretion

Cushing Syndrome Secondary To Ectopic Acth-Secretion

Ectopic Cushing Syndrome

Hypercortisolism Due To Nonpituitary Tumour

Ectopic Acth - [Adrenocorticotropic Hormone] Secretion

Ectopic Acth - [Adrenocorticotropic Hormone] Secretion Causing Cushing Syndrome

Idiopathic Aldosteronism

Aldosteronism

Primary Aldosteronism Due To Bilateral Adrenal Hyperplasia

Primary Aldosteronism Due To Adrenal Hyperplasia

Osteochondrosis

Osteochondritis

Apophysitis

Epiphysitis

Osteochondritis Juvenilis

Epiphyseal Necrosis

Juvenile Osteochondrosis Of Tibial Tubercle

Functional Diarrhea

Functional Diarrhoea

Hyperaldosteronism, Familial, Type I

Glucocorticoid-Remediable Aldosteronism

Gra

Familial Hyperaldosteronism Type 1

Hyperaldosteronism, Familial Type 1

HALD1

Fh I

Glucocorticoid-Suppressible Hyperaldosteronism

Gsh

Acth-Dependent Hyperaldosteronism Syndrome

Aldosteronism, Glucocorticoid-Remediable

Dexamethasone Sensitive Hypertension

Glucocorticoid Sensitive Hypertension

Familial Hyperaldosteronism Type I

Fh1

Aldosteronism, Sensitive To Dexamethasone

Dexamethasone-Sensitive Hypertension

Fh-I

Glucocorticoid-Sensitive Hypertension

Hyperaldosteronism, Familial, 1

Aldosteronism Sensitive To Dexamethasone

Familial Hyperaldosteronism 1

Fh Type 1

Familial Aldosteronism Type I

Hypothalamic Neoplasm

Hypothalamic Neoplasms

Neoplasm Of The Hypothalamus

Tumor Of Hypothalamus

Diencephalic Neoplasm

Malignant Diencephalic Neoplasm

Malignant Diencephalic Tumor

Tumor Of Diencephalon

Cerebral Arteriopathy, Autosomal Dominant, With Subcortical Infarcts And Leukoencephalopathy, Type 1

Cadasil

Cerebral Autosomal Dominant Arteriopathy With Subcortical Infarcts And Leukoencephalopathy

Casil

Cerebral Arteriopathy With Subcortical Infarcts And Leukoencephalopathy

Familial Vascular Leukoencephalopathy

CADASIL1

Cadasil 1

Hereditary Multi-Infarct Dementia

Cadasil Syndrome

Dementia, Hereditary Multiinfarct Type

Cerebral Arteriopathy With Subcortical Infarcts And Leukoencephalopathy 1

Autosomal Dominant Cerebral Arteriopathy With Subcortical Infarcts And Leukoencephalopathy Type 1

Cerebral Autosomal Dominant Arteriopathy With Subcortical Infarcts Leukoencephalopathy

Dementia, Hereditary Multi-Infarct Type

Hereditary Dementia, Multi-Infarct Type

Cerebral Autosomal Dominant Arteriopathy-Subcortical Infarcts-Leukoencephalopathy

Cerebral Arteriopathy, Autosomal Dominant, With Subcortical Infarcts And Leukoencephalopathy, 1

Cerebral Arteriopathy With Subcortical Infarcts And Leukoencephalopathy, Autosomal Dominant

Dementia Hereditary Multiinfarct Type

Dementia Hereditary Multi-Infarct Type

Arteriopathy, Cerebral, Autosomal Dominant, With Subcortical Infarcts And Leukoencephalopathy

Myotonia Congenita

Congenital Myotonia, Autosomal Dominant Form

Congenital Myotonia

Thomsen And Becker Disease

Thomsen Disease

Thomsen'S Disease

Generalized Myotonia Of Thomsen

Congenital Myotonic Muscular Dystrophy

Myotonia Congenita Nos

Primary Pigmented Nodular Adrenocortical Disease

Ppnad

Primary Pigmented Nodular Adrenal Dysplasia

Pigmented Nodular Adrenocortical Disease, Primary, 2

Pigmented Nodular Adrenocortical Disease, Primary, 1

Childhood Absence Epilepsy

Pyknolepsy

Petit Mal Epilepsy

Absence Seizures

Absence Seizure

Petit Mal Seizure

Absence Epilepsy, Childhood

Pykno-Epilepsy

Epilepsy, Absence

Absence Epilepsy

Pycnolepsy

Autosomal Dominant Nocturnal Frontal Lobe Epilepsy

Adnfle

Autosomal Dominant Sleep-Related Hypermotor Epilepsy

Enfl

Benign Familial Infantile Seizures 6

Benign Familial Infantile Seizures, 6

Nocturnal Frontal Lobe Epilepsy-4

Enfl1

Epilepsy, Nocturnal Frontal Lobe, 1

Epilepsy, Nocturnal Frontal Lobe, Type 1

Generalized Epilepsy With Febrile Seizures Plus

Gefs+

Genetic Epilepsy With Febrile Seizures Plus

Generalized Epilepsy With Febrile Seizures-Plus

Genetic Epilepsy With Febrile Seizures-Plus

Epilepsy, Generalized, With Febrile Seizures Plus

Leukoencephalopathy With Vanishing White Matter

Cree Leukoencephalopathy

Vanishing White Matter Disease

Ovarioleukodystrophy

Vanishing White Matter Leukodystrophy

Childhood Ataxia With Central Nervous System Hypomyelinization

Cach

Cach Syndrome

Myelinosis Centralis Diffusa

VWM

Cle

Childhood Ataxia With Central Nervous System Hypomyelination

Childhood Ataxia With Diffuse Central Nervous System Hypomyelination

Cach/Vwm

Cach/Vwm Syndrome

Childhood Ataxia With Central Nervous System Hypomyelination/Vanishing White Matter

Cree Leukoencehalopathy

Late Infantile Cach Syndrome

Juvenile Or Adult Cach Syndrome

Congenital Or Early Infantile Cach Syndrome

Leukodystrophy With Vanishing White Matter

Benign Familial Infantile Epilepsy

Benign Familial Infantile Seizures

Bfie

Benign Familial Infantile Convulsion

Bfic

Bfis

Benign Familial Infantile Convulsions

Familial Benign Neonatal Epilepsy

Watanabe-Vigevano Syndrome

Benign Epilepsy With Centrotemporal Spikes

Rolandic Epilepsy

Benign Rolandic Epilepsy

Epilepsy, Rolandic

Bcects

Benign Childhood Epilepsy With Centrotemporal Spike

Sylvan Seizures

Becrs

Bects

Bre

Benign Epilepsy Of Childhood With Centrotemporal Spikes

Benign Familial Epilepsy Of Childhood With Rolandic Spikes

Centrotemporal Epilepsy

Developmental And Epileptic Encephalopathy

Encephalopathy, Developmental And Epileptic

Diseases Alias
Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Orthologs Information

Species Symbol Source ID
Macaca mulatta CLCN2 VGNC VGNC:71235
Mus musculus CLCN2 MGD MGI:105061
Canis familiaris CLCN2 VGNC VGNC:39302
Rattus norvegicus CLCN2 RGD RGD:2361
Bos taurus CLCN2 VGNC VGNC:27396
Felis catus CLCN2 VGNC VGNC:60924