CLCN2 - chloride voltage-gated channel 2 Gene

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

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 1181

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	References	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	References	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	References	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

CBS

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

Related Agents

Approval
Pre-clinical Phase

Approval

Bioactive Molecules (1)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-B0680	Lubiprostone (hemiketal)	Activator	98.00%	Unkown

Pre-clinical Phase

Bioactive Molecules (3)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS02754	CLCN2 Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS22442	Clcn2 Mouse Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS28965	Clcn2 Rat Pre-designed siRNA Set A	Pre-designed Set	/	Unkown

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
Others	CLCN2	NCBI