Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
1185
Gene name Gene Name - the full gene name approved by the HGNC.
Chloride voltage-gated channel 6
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
CLCN6
Synonyms (NCBI Gene) Gene synonyms aliases
CLC-6, CONRIBA
Chromosome Chromosome number
1
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
1p36.22
Summary Summary of gene provided in NCBI Entrez Gene.
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 a
miRNA miRNA information provided by mirtarbase database.
miRTarBase ID miRNA Experiments Reference
MIRT017686 hsa-miR-335-5p Microarray 18185580
MIRT046450 hsa-miR-15b-5p CLASH 23622248
MIRT448913 hsa-miR-876-5p PAR-CLIP 22291592
MIRT448912 hsa-miR-3167 PAR-CLIP 22291592
MIRT448911 hsa-miR-378j PAR-CLIP 22291592
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
GO ID Ontology Definition Evidence Reference
GO:0000166 Function Nucleotide binding IEA
GO:0005247 Function Voltage-gated chloride channel activity IBA
GO:0005247 Function Voltage-gated chloride channel activity IDA 20466723
GO:0005247 Function Voltage-gated chloride channel activity IEA
GO:0005247 Function Voltage-gated chloride channel activity NAS 8543009, 9224655
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM HGNC e!Ensembl
602726 2024 ENSG00000011021
Protein
UniProt ID P51797
Protein name H(+)/Cl(-) exchange transporter 6 (Chloride channel protein 6) (ClC-6) (Chloride transport protein 6)
Protein function Voltage-gated channel mediating the exchange of chloride ions against protons. Functions as antiporter and contributes to the acidification of the late endosome lumen. The CLC channel family contains both chloride channels and proton-coupled ani
PDB 8JPJ , 8JPO , 8JPR
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00654 Voltage_CLC 138 570 Voltage gated chloride channel Family
PF00571 CBS 601 645 CBS domain Domain
PF00571 CBS 801 857 CBS domain Domain
Tissue specificity TISSUE SPECIFICITY: Testis, ovary, small intestine, brain and skeletal muscle. Low level expression in aortic and coronary vascular smooth muscle cells, and aortic endothelial cells. Isoform 3 is only detected in kidney. {ECO:0000269|PubMed:10198195, ECO:
Sequence
MAGCRGSLCCCCRWCCCCGERETRTPEELTILGETQEEEDEILPRKDYESLDYDRCINDP
YLEVLETMDNKKGRRYEAVKWMVVFAIGVCTGLVGLFVDFFVRLFTQLKFGVVQTSVEEC
SQKGCLALSLLELLGFNLTFVFLASLLVLIEPVAAGSGIPEVKCYLNGVKVPGIVRLRTL
LCKVLGVLFSVAGGLFVEKEGPMIHSGSVVGAGLPQFQSISLRKIQFNFPYFRSDRDKRD
FVSAGAAAGVAAAFGAPIGGTLFSLEEGSSFWNQGLTWKVLFCSMSATFTLNFFRSGIQF
GSWGSFQLPGLLNFGEFKCSDSDKKCHLWTAMDLGFFVVMGVIGGLLGATFNCLNKRLAK
YRMRNVHPKPKLVRVLESLLVSLVTTVVVFVASMVLGECRQMSSSSQIGNDSFQLQVTED
VNSSIKTFFCPNDTYNDMATLFFNPQESAILQLFHQDGTFSPVTLALFFVLYFLLACWTY
GISVPSGLFVPSLLCGAAFGRLVANVLKSYIGLGHIYSGTFALIGAAAFLGGVVRMTISL
TVILIESTNEITYGLPIMVTLMVAKWTGDF
FNKGIYDIHVGLRGVPLLEWETEVEMDKLR
ASDIMEPNLTYVYPHTRIQSLVSILRTTVHHAFPVVTENRGNEKEFMKGNQLISNNIKFK
KSSILTRAGEQRKRSQSMKSYPSSELRNMCDEHIASEEPAEKEDLLQQMLERRYTPYPNL
YPDQSPSEDWTMEERFRPLTFHGLILRSQLVTLLVRGVCYSESQSSASQPRLSYAEMAED
YPRYPDIHDLDLTLLNPRMIVDVTPYMNPSPFTVSPNTHVSQVFNLFRTMGLRHLPVVNA
VGEIVGIITRHNLTYEF
LQARLRQHYQTI
Sequence length 869
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  Reactome
    Stimuli-sensing channels
Signaling by BRAF and RAF fusions
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Associated diseases Disease associations categorized as Causal (pathogenic variants), Unknown (uncertain genetic evidence), or Text Mining (literature-based associations)
Unknown Includes: (1) ClinVar NON-pathogenic variants (Uncertain, Benign, Conflicting, VUS), (2) GenCC associations, (3) GWAS associations, (4) CBGDA evidence-based associations. NOTE: Diseases with pathogenic evidence are excluded to avoid conflicts.
Disease merge term Disease name Evidence References Source
Atrial Fibrillation Atrial fibrillation N/A N/A GWAS
Hypertension Hypertension (confirmatory factor analysis Factor 12), Essential hypertension (PheCode 401.1), Hypertension N/A N/A GWAS
Psoriasis Psoriasis N/A N/A GWAS
Associations from Text Mining Disease associations identified through Pubtator
Disease Name Relationship Type References
Asthma Associate 32512817
Developmental Disabilities Associate 38095064
Epilepsy Associate 28074849
Epilepsy Familial Mesial Temporal Lobe Associate 28276448
Frontotemporal Dementia Associate 33737586
Heart Defects Congenital Associate 34126931
Heredodegenerative Disorders Nervous System Associate 35262198, 37831762
Lysosomal Storage Diseases Associate 35262198, 38095064
Neurodegenerative Diseases Associate 35262198, 37831762, 38095064
Neurologic Manifestations Associate 35262198