CLCN6 - chloride voltage-gated channel 6 Gene

Also Known as CLC-6; CONRIBA

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 1185

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

Gene Ontology

Molecular Function
Biological Process

Molecular Function GO Annotation	Evidence	References	Source
enables voltage-gated chloride channel activity	IDA IDA: Inferred from direct assay	20466723	GOA

Biological Process GO Annotation	Evidence	References	Source
involved in chloride transport	IDA IDA: Inferred from direct assay	20466723	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

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

Pre-clinical Phase

Bioactive Molecules (3)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS02758	CLCN6 Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS22443	Clcn6 Mouse Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS28966	Clcn6 Rat Pre-designed siRNA Set A	Pre-designed Set	/	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
Others	CLCN6	NCBI