Gene: CLCN3
Alternate names for this Gene: CLC3|ClC-3
Gene 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 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.
Gene is located in Chromosome: 4
Location in Chromosome : 4q33
Description of this Gene: chloride voltage-gated channel 3
Type of Gene: protein-coding
rs10520163 in
CLCN3 gene and
Child Development Disorders, Pervasive
PMID 28540026 2017 Meta-analysis of GWAS of over 16,000 individuals with autism spectrum disorder highlights a novel locus at 10q24.32 and a significant overlap with schizophrenia.
rs10520163 in
CLCN3 gene and
Schizophrenia
PMID 29483656 2018 Common schizophrenia alleles are enriched in mutation-intolerant genes and in regions under strong background selection.
PMID 25056061 2014 Biological insights from 108 schizophrenia-associated genetic loci.
PMID 28540026 2017 Meta-analysis of GWAS of over 16,000 individuals with autism spectrum disorder highlights a novel locus at 10q24.32 and a significant overlap with schizophrenia.
PMID 26198764 2015 Genome-wide association study of schizophrenia in Ashkenazi Jews.
PMID 30285260 2019 Genome-Wide Association Study Detected Novel Susceptibility Genes for Schizophrenia and Shared Trans-Populations/Diseases Genetic Effect.
PMID 28991256 2017 Genome-wide association analysis identifies 30 new susceptibility loci for schizophrenia.