Gene Gene information from NCBI Gene database.
Entrez ID 1182
Gene name Chloride voltage-gated channel 3
Gene symbol CLCN3
Synonyms (NCBI Gene)
CLC3ClC-3NEDHYBANEDSBA
Chromosome 4
Chromosome location 4q33
Summary This gene encodes a member of the voltage-gated chloride channel (ClC) family. The encoded protein is present in all cell types and localized in plasma membranes and in intracellular vesicles. It is a multi-pass membrane protein which contains a ClC domai
miRNA miRNA information provided by mirtarbase database.
327
miRTarBase ID miRNA Experiments Reference
MIRT002737 hsa-miR-1-3p Microarray 15685193
MIRT006176 hsa-miR-15a-5p Luciferase reporter assayMicroarrayNorthern blotqRT-PCRWestern blot 21880628
MIRT006176 hsa-miR-15a-5p Luciferase reporter assayMicroarrayNorthern blotqRT-PCRWestern blot 21880628
MIRT006176 hsa-miR-15a-5p Luciferase reporter assayMicroarrayNorthern blotqRT-PCRWestern blot 21880628
MIRT006176 hsa-miR-15a-5p Luciferase reporter assayMicroarrayNorthern blotqRT-PCRWestern blot 21880628
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
72
GO ID Ontology Definition Evidence Reference
GO:0000139 Component Golgi membrane IEA
GO:0000166 Function Nucleotide binding IEA
GO:0005247 Function Voltage-gated chloride channel activity IBA
GO:0005247 Function Voltage-gated chloride channel activity TAS 7665160
GO:0005254 Function Chloride channel activity IDA 11274166
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
600580 2021 ENSG00000109572
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
P51790
Protein name H(+)/Cl(-) exchange transporter 3 (Chloride channel protein 3) (ClC-3) (Chloride transporter ClC-3)
Protein function [Isoform 1]: Strongly outwardly rectifying, electrogenic H(+)/Cl(-)exchanger which mediates the exchange of chloride ions against protons (By similarity). The CLC channel family contains both chloride channels and proton-coupled anion transporte
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00654 Voltage_CLC 220 623 Voltage gated chloride channel Family
PF00571 CBS 654 718 CBS domain Domain
PF00571 CBS 751 806 CBS domain Domain
Tissue specificity TISSUE SPECIFICITY: Expressed primarily in tissues derived from neuroectoderm. Within the brain, its expression is particularly evident in the hippocampus, olfactory cortex, and olfactory bulb. Highly expressed in aortic and coronary vascular smooth muscl
Sequence
MESEQLFHRGYYRNSYNSITSASSDEELLDGAGVIMDFQTSEDDNLLDGDTAVGTHYTMT
NGGSINSSTHLLDLLDEPIPGVGTYDDFHTIDWVREKCKDRERHRRINSKKKESAWEMTK
SLYDAWSGWLVVTLTGLASGALAGLIDIAADWMTDLKEGICLSALWYNHEQCCWGSNETT
FEERDKCPQWKTWAELIIGQAEGPGSYIMNYIMYIFWALSFAFLAVSLVKVFAPYACGSG
IPEIKTILSGFIIRGYLGKWTLMIKTITLVLAVASGLSLGKEGPLVHVACCCGNIFSYLF
PKYSTNEAKKREVLSAASAAGVSVAFGAPIGGVLFSLEEVSYYFPLKTLWRSFFAALVAA
FVLRSINPFGNSRLVLFYVEYHTPWYLFELFPFILLGVFGGLWGAFFIRANIAWCRRRKS
TKFGKYPVLEVIIVAAITAVIAFPNPYTRLNTSELIKELFTDCGPLESSSLCDYRNDMNA
SKIVDDIPDRPAGIGVYSAIWQLCLALIFKIIMTVFTFGIKVPSGLFIPSMAIGAIAGRI
VGIAVEQLAYYHHDWFIFKEWCEVGADCITPGLYAMVGAAACLGGVTRMTVSLVVIVFEL
TGGLEYIVPLMAAVMTSKWVGDA
FGREGIYEAHIRLNGYPFLDAKEEFTHTTLAADVMRP
RRNDPPLAVLTQDNMTVDDIENMINETSYNGFPVIMSKESQRLVGFALRRDLTIAIES
AR
KKQEGIVGSSRVCFAQHTPSLPAESPRPLKLRSILDMSPFTVTDHTPMEIVVDIFRKLGL
RQCLVTHNGRLLGIITKKDILRHMAQ
TANQDPASIMFN
Sequence length 818
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  KEGG 
  Neutrophil extracellular trap formation  
Associated diseases Disease associations from ClinVar categorized as Causal (Pathogenic/Likely Pathogenic) or Unknown.
39
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Autism, susceptiblity to Pathogenic rs1733026743 RCV003313025
Neurodevelopmental delay Likely pathogenic; Pathogenic rs2150238934, rs2150246636, rs2150254146, rs201059509, rs2150267036, rs2150274994, rs1732900321, rs1732397227 RCV001553771
RCV001553778
RCV001553773
RCV001553772
RCV001553776
RCV001553777
RCV001553775
RCV001289539
Neurodevelopmental disorder Likely pathogenic rs1732900321 RCV001195290
Neurodevelopmental disorder with hypotonia and brain abnormalities Likely pathogenic rs2150238934, rs2150254146, rs201059509, rs2150267036, rs2150274994, rs2477120199, rs1732900321, rs1732397227 RCV002051945
RCV002051947
RCV002051946
RCV001597308
RCV002051949
RCV003319580
RCV001597254
RCV002051932
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
CLCN3-related disorder Uncertain significance; Likely benign rs2477000572, rs776565829, rs2477023403, rs2477159329, rs2477159685, rs2477202433, rs532326953, rs745571413 RCV003400233
RCV003393011
RCV003408358
RCV003982677
RCV003904646
RCV003982573
RCV003967204
RCV003966984
CLCN3-related neurodevelopmental disorders Uncertain significance rs2150249147 RCV002260568
Progressive sensorineural hearing impairment Uncertain significance rs770732784 RCV000417121
Associations from Text MiningDisease associations identified through Pubtator
Disease Name Relationship Type References
Asthenozoospermia Associate 27270342
Asthma Associate 25514499
Breast Neoplasms Associate 29949674
Carcinoma Non Small Cell Lung Associate 36069232
Carcinoma Ovarian Epithelial Associate 33765585
Cardiomyopathy Dilated Associate 24339868
Colorectal Neoplasms Associate 35817785
Familial Primary Pulmonary Hypertension Associate 35989293
Genomic Instability Associate 35817785
Glioma Associate 12843258, 20139089, 22049206, 23261316