CLCN3 Chromosome 4
Cl-/H+ antiporter 3
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What This Gene Does
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 domain and two additional C-terminal CBS (cystathionine beta-synthase) domains. The ClC domain catalyzes the selective flow of Cl- ions across cell membranes, and the CBS domain may have a regulatory function. This protein plays a role in both acidification and transmitter loading of GABAergic synaptic vesicles, and in smooth muscle cell activation and neointima formation. This protein is required for lysophosphatidic acid (LPA)-activated Cl- current activity and fibroblast-to-myofibroblast differentiation. The protein activity is regulated by Ca(2+)/calmodulin-dependent protein kinase II (CaMKII) in glioma cells. Multiple alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Aug 2011]
Gene Info
Gene Group
CLC chloride channel and transporter family
Locus Type
gene with protein product
Location
4q33
Ensembl
ENSG00000109572
Associated Conditions (7)
Neurodevelopmental delay
Neurodevelopmental disorder with hypotonia and brain abnormalities
Inborn genetic diseases
Neurodevelopmental disorder
Autism
susceptiblity to
Neurodevelopmental disorder with seizures and brain abnormalities
Key Variants
RS1732397227
Likely pathogenic
Neurodevelopmental delay, Neurodevelopmental disorder with hypotonia and brain abnormalities, Neurodevelopmental delay
Health Risk
RS1732611964
Likely pathogenic
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS1732900321
Likely pathogenic
Neurodevelopmental disorder, Neurodevelopmental delay, Neurodevelopmental disorder with hypotonia and brain abnormalities
Health Risk
RS201059509
Likely pathogenic
Neurodevelopmental delay, Neurodevelopmental disorder with hypotonia and brain abnormalities, Neurodevelopmental delay
Health Risk
RS2150238934
Likely pathogenic
Neurodevelopmental delay, Neurodevelopmental disorder with hypotonia and brain abnormalities, Neurodevelopmental delay
Health Risk
RS2150254146
Likely pathogenic
Neurodevelopmental delay, Neurodevelopmental disorder with hypotonia and brain abnormalities, Neurodevelopmental delay
Health Risk
RS2150267036
Likely pathogenic
Neurodevelopmental delay, Neurodevelopmental disorder with hypotonia and brain abnormalities, Neurodevelopmental delay
Health Risk
RS2150274994
Likely pathogenic
Neurodevelopmental delay, Neurodevelopmental disorder with hypotonia and brain abnormalities, Neurodevelopmental delay
Health Risk
RS2477060004
Likely pathogenic
Health Risk
RS2477120199
Likely pathogenic
Neurodevelopmental disorder with hypotonia and brain abnormalities, Neurodevelopmental disorder with hypotonia and brain abnormalities
Health Risk
RS1733026743
Pathogenic
Autism, susceptiblity to, Autism
Health Risk
RS2150246636
Pathogenic
Neurodevelopmental delay, Neurodevelopmental disorder with seizures and brain abnormalities, Neurodevelopmental delay
Health Risk
All Variants (12)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS1732397227 | Health Risk | Likely pathogenic | Neurodevelopmental delay, Neurodevelopmental disorder with hypotonia and brain abnormalities, Neurodevelopmental delay |
| RS1732611964 | Health Risk | Likely pathogenic | Inborn genetic diseases, Inborn genetic diseases |
| RS1732900321 | Health Risk | Likely pathogenic | Neurodevelopmental disorder, Neurodevelopmental delay, Neurodevelopmental disorder with hypotonia and brain abnormalities |
| RS201059509 | Health Risk | Likely pathogenic | Neurodevelopmental delay, Neurodevelopmental disorder with hypotonia and brain abnormalities, Neurodevelopmental delay |
| RS2150238934 | Health Risk | Likely pathogenic | Neurodevelopmental delay, Neurodevelopmental disorder with hypotonia and brain abnormalities, Neurodevelopmental delay |
| RS2150254146 | Health Risk | Likely pathogenic | Neurodevelopmental delay, Neurodevelopmental disorder with hypotonia and brain abnormalities, Neurodevelopmental delay |
| RS2150267036 | Health Risk | Likely pathogenic | Neurodevelopmental delay, Neurodevelopmental disorder with hypotonia and brain abnormalities, Neurodevelopmental delay |
| RS2150274994 | Health Risk | Likely pathogenic | Neurodevelopmental delay, Neurodevelopmental disorder with hypotonia and brain abnormalities, Neurodevelopmental delay |
| RS2477060004 | Health Risk | Likely pathogenic | — |
| RS2477120199 | Health Risk | Likely pathogenic | Neurodevelopmental disorder with hypotonia and brain abnormalities, Neurodevelopmental disorder with hypotonia and brain abnormalities |
| RS1733026743 | Health Risk | Pathogenic | Autism, susceptiblity to, Autism |
| RS2150246636 | Health Risk | Pathogenic | Neurodevelopmental delay, Neurodevelopmental disorder with seizures and brain abnormalities, Neurodevelopmental delay |