CLCN6 - chloride voltage-gated channel 6 Gene

Homo sapiens

Also known as CLC-6; CONRIBA

Gene ID: 1185 | Gene type: protein coding

About CLCN6

Cytogenetic location: 1p36.22 Genomic coordinates (GRCh38): 1:11,806,191-11,843,130 (from NCBI)

This gene has 10 transcripts (splice variants), 211 orthologues, 8 paralogues and is associated with 3 phenotypes. Ubiquitous expression in brain (RPKM 13.0), testis (RPKM 10.2) and 24 other tissues.

Summary

This gene encodes a member of the voltage-dependent Chloride Channel protein family. Members of this family can function as either chloride channels or antiporters. This protein is primarily localized to late endosomes and functions as a chloride/proton antiporter. Alternate splicing results in both coding and non-coding variants. Additional alternately spliced variants have been described but their full-length structure is unknown. [provided by RefSeq, Mar 2012]

CLCN6 Products(2)

mRNA	Protein	Name
NM_001256959.2	NP_001243888.2	H(+)/Cl(-) exchange transporter 6 isoform 2
NM_001286.5	NP_001277.2	H(+)/Cl(-) exchange transporter 6 isoform 1

CLCN6 Protein Structure

Voltage_CLC

CBS

0
200
400
600
800
869 a.a.

Protein Preferred Names

Protein Names

H(+)/Cl(-) exchange transporter 6

chloride channel, voltage-sensitive 6

Related Diseases

Diseases

Alias

Neurodegeneration, Childhood-Onset, With Hypotonia, Respiratory Insufficiency, And Brain Imaging Abnormalities

CONRIBA	Neurodegeneration, Childhood-Onset, Hypotonia, Respiratory Insufficiency And Brain Imaging Abnormalities
Clcn6-Related Childhood-Onset Progressive Neurodegeneration-Peripheral Neuropathy Syndrome

Speech Disorder

Speech Disorders

Movement Disease

Movement Disorders

Movement Disorder

Respiratory System Disease

Abnormality Of The Respiratory System	Respiration Disorders
Respiratory Tract Diseases

Neurogenic Bladder

Neurogenic Dysfunction Of The Urinary Bladder	Neurogenic Urinary Bladder Disorder
Neuropathic Bladder	Bladder Neurogenic
Urinary Bladder, Neurogenic	Neurogenic Urinary Bladder

Hypotonia

Skin Disease

Skin Diseases	Genodermatosis
Abnormality Of The Skin	Skin Diseases, Genetic
Skin And Subcutaneous Tissue Disease	Dermatologic Disorders

Epilepsy, Idiopathic Generalized 12

EIG12	Epilepsy, Idiopathic Generalized, Susceptibility To, 12
Idiopathic Generalized Epilepsy 12	Susceptibility To Idiopathic Generalized Epilepsy 12
Epilepsy, Idiopathic, Generalized, Susceptibility To, Type 12

Dystonia 9

DYT9	Choreoathetosis/Spasticity, Episodic
Episodic Choreoathetosis/Spasticity	Cse Choreoathetosis, Paroxysmal, With Episodic Ataxia
Choreoathetosis, Kinesigenic, With Episodic Ataxia And Spasticity	Paroxysmal Dystonic Choreathetosis With Episodic Ataxia And Spasticity
Cse	Dystonia-9
Kinesigenic Choreoathetosis With Episodic Ataxia And Spasticity	Paroxysmal Choreoathetosis With Episodic Ataxia
Dystonia, Type 9

Developmental And Epileptic Encephalopathy 65

DEE65	Epileptic Encephalopathy, Early Infantile, 65
Eiee65	Developmental And Epileptic Encephalopathy, 65
Early Infantile Epileptic Encephalopathy 65	Encephalopathy, Epileptic, Early Infantile, Type 65

Leopard Syndrome 1

LPRD1	Noonan Syndrome With Multiple Lentigines 1
Lentiginosis, Cardiomyopathic	Multiple Lentigines Syndrome
Leopard Syndrome, Type 1	Leopard Syndrome
Multiple Lentigines

Esotropia

Convergence In Manifest Squint	Crossed Eyes
Internal Strabismus	Convergent Concomitant Strabismus
Convergent Squint	Convergent Strabismus
Cross-Eye

Ceroid Lipofuscinosis, Neuronal, 11

Neuronal Ceroid Lipofuscinosis 11	CLN11
Cln11 Disease	Grn-Related Neuronal Ceroid-Lipofuscinosis
Lipofuscinosis, Ceroid, Neuronal, Type 11

Cerebellar Astrocytoma

Astrocytoma Of Cerebellum

Pilomyxoid Astrocytoma

Pilocytic Astrocytoma Of Cerebellum

Cerebellar Pilocytic Astrocytoma

Noonan Syndrome 1

Noonan Syndrome	NS1
Male Turner Syndrome	Female Pseudo-Turner Syndrome
Turner Phenotype With Normal Karyotype	Noonan Syndrome With Pigmented Villonodular Synovitis
Turner'S Phenotype, Karyotype Normal	Familial Turner Syndrome
Noonan'S Syndrome	Noonan-Ehmke Syndrome
Ns	Pseudo-Ullrich-Turner Syndrome
Turner Syndrome In Female With X Chromosome	Turner-Like Syndrome
Ullrich-Noonan Syndrome	Noonan-Like/Multiple Giant Cell Lesion Syndrome
Noonan Syndrome-Like Disorder With Multiple Giant Cell Lesions	Pterygium Colli Syndrome
Noonan Syndrome, Type 1	Turner Syndrome, Male

Neuronal Ceroid Lipofuscinosis

Hereditary Ceroid Lipofuscinosis	Batten Disease
Ncl	Neuronal Ceroid-Lipofuscinoses
Lipofuscinosis, Ceroid, Neuronal	Juvenile Neuronal Ceroid Lipofuscinosis
Cerebromacular Dystrophy	Cerebromacular Degeneration
Ceroid-Lipofuscinosis	Ncl - [Neuronal Ceroid Lipofuscinosis]
Amaurotic Familial Idiocy	Amaurotic Idiocy
Amaurotic Idiot	Neuronal Lipofuscinosis
Pigmentary Retinal Lipoid Neuronal Heredodegeneration

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

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

West Syndrome

Infantile Spasms	Infantile Spasms Syndrome
Infantile Spasm	X-Linked Infantile Spasm Syndrome
X-Linked Infantile Spasms	Epileptic Encephalopathy, Early Infantile, 1
Is	Tonic Spasms With Clustering, Arrest Of Psychomotor Development And Hypsarrhythmia On Eeg
West'S Syndrome	Spasms, Infantile
Is -[Infantile Spasm]	Salaam Spasm
Salaam Tic

Early Infantile Epileptic Encephalopathy

Early Infantile Epileptic Encephalopathy With Burst-Suppression	Early Infantile Epileptic Encephalopathy With Suppression Bursts
Eiee	Early Infantile Epileptic Encephalopathy With Suppression-Bursts
Ohtahara Syndrome	Encephalopathy, Epileptic, Early Infantile

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

Pre-clinical Phase

Bioactive Molecules (1)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS02758	CLCN6 Human Pre-designed siRNA Set A		/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Bos taurus	CLCN6	VGNC	VGNC:27400
Rattus norvegicus	CLCN6	RGD	RGD:1305379
Mus musculus	CLCN6	MGD	MGI:1347049
Felis catus	CLCN6	VGNC	VGNC:60928
Canis familiaris	CLCN6	VGNC	VGNC:39306
Macaca mulatta	CLCN6	VGNC	VGNC:71240

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