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 (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
19
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)
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession Evidence Score
Autism, susceptiblity to Pathogenic rs1733026743 RCV003313025
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Neurodevelopmental delay Likely pathogenic; Pathogenic rs2150238934, rs2150246636, rs2150254146, rs201059509, rs2150267036, rs2150274994, rs1732900321, rs1732397227 RCV001553771
RCV001553778
RCV001553773
RCV001553772
RCV001553776
View all (3 more)
★★★★★
ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Neurodevelopmental disorder Likely pathogenic rs1732900321 RCV001195290
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Neurodevelopmental disorder with hypotonia and brain abnormalities Likely pathogenic rs2150238934, rs2150254146, rs201059509, rs2150267036, rs2150274994, rs2477120199, rs1732900321, rs1732397227 RCV002051945
RCV002051947
RCV002051946
RCV001597308
RCV002051949
View all (3 more)
★★★★★
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
AMYOTROPHIC LATERAL SCLEROSIS GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
AUTISM SPECTRUM DISORDER GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
AUTISTIC DISORDER Disgenet
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
CLCN3-related disorder Uncertain significance; Likely benign ClinVar
★★☆☆☆
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
Adenocarcinoma of lung (disorder) Lung adenocarcinoma BEFREE 30230544
★☆☆☆☆
Found in Text Mining only
Amyloidosis Amyloidosis BEFREE 22207005
★☆☆☆☆
Found in Text Mining only
Asthenozoospermia Asthenozoospermia BEFREE 27270342
★☆☆☆☆
Found in Text Mining only
Asthenozoospermia Asthenozoospermia Pubtator 27270342 Associate
★☆☆☆☆
Found in Text Mining only
Asthma Asthma Pubtator 25514499 Associate
★☆☆☆☆
Found in Text Mining only
Breast Carcinoma Breast Carcinoma BEFREE 28419445, 29949674, 29963105, 30230544, 31608175
★☆☆☆☆
Found in Text Mining only
Breast Neoplasms Breast neoplasm Pubtator 29949674 Associate
★☆☆☆☆
Found in Text Mining only
Carcinoma Ovarian Epithelial Epithelial ovarian carcinoma Pubtator 33765585 Associate
★☆☆☆☆
Found in Text Mining only
Cardiomyopathy Dilated Dilated cardiomyopathy Pubtator 24339868 Associate
★☆☆☆☆
Found in Text Mining only
Cardiovascular Diseases Cardiovascular Diseases BEFREE 21602838
★☆☆☆☆
Found in Text Mining only