Gene Gene information from NCBI Gene database.
Entrez ID 1185
Gene name Chloride voltage-gated channel 6
Gene symbol CLCN6
Synonyms (NCBI Gene)
CLC-6CONRIBA
Chromosome 1
Chromosome location 1p36.22
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 a
miRNA miRNA information provided by mirtarbase database.
667
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 (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
27
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 identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
602726 2024 ENSG00000011021
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
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
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
38
Evidence Score: ★☆☆☆☆  Gene-disease association found in Text Mining only ★★☆☆☆  Found in Text Mining and Unknown/Other Associations ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Phenotype Name Clinical Significance Source Evidence Score
Acute myeloid leukemia Benign ClinVar
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Adrenocortical carcinoma, hereditary Benign ClinVar
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
ATRIAL FIBRILLATION GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
CARDIOVASCULAR DISEASE GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text Mining Disease associations identified through text mining
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Asthma Asthma Pubtator 32512817 Associate
★☆☆☆☆
Found in Text Mining only
Atrial Fibrillation, Familial, 6 Atrial Fibrillation CLINVAR_DG
★☆☆☆☆
Found in Text Mining only
ATRIAL STANDSTILL 2 Atrial standstill CLINVAR_DG
★☆☆☆☆
Found in Text Mining only
Cardiovascular Diseases Cardiovascular Diseases GWASCAT_DG 30595370
★☆☆☆☆
Found in Text Mining only
Developmental Disabilities Developmental disability Pubtator 38095064 Associate
★☆☆☆☆
Found in Text Mining only
Epilepsies, Partial Epilepsy BEFREE 25794116
★☆☆☆☆
Found in Text Mining only
Epilepsy Epilepsy Pubtator 28074849 Associate
★☆☆☆☆
Found in Text Mining only
Febrile Convulsions Febrile seizures BEFREE 25794116
★☆☆☆☆
Found in Text Mining only
Frontotemporal Dementia Frontotemporal dementia Pubtator 33737586 Associate
★☆☆☆☆
Found in Text Mining only
Heart Defects Congenital Congenital heart defect Pubtator 34126931 Associate
★☆☆☆☆
Found in Text Mining only