Gene: CLN3

Alternate names for this Gene: BTN1|BTS|JNCL

Gene Summary: This gene encodes a protein that is involved in lysosomal function. Mutations in this, as well as other neuronal ceroid-lipofuscinosis (CLN) genes, cause neurodegenerative diseases commonly known as Batten disease or collectively known as neuronal ceroid lipofuscinoses (NCLs). Many alternatively spliced transcript variants have been found for this gene.

Gene is located in Chromosome: 16

Location in Chromosome : 16p12.1

Description of this Gene: CLN3 lysosomal/endosomal transmembrane protein, battenin

Type of Gene: protein-coding

rs151181 in CLN3 gene and Crohn Disease PMID 21102463 2010 Genome-wide meta-analysis increases to 71 the number of confirmed Crohn's disease susceptibility loci.

rs151181 in CLN3 gene and Esophageal Neoplasms PMID 22960999 2012 Genome-wide association analyses of esophageal squamous cell carcinoma in Chinese identify multiple susceptibility loci and gene-environment interactions.

rs28374519 in CLN3 gene and Intelligence PMID 29326435 2019 A combined analysis of genetically correlated traits identifies 187 loci and a role for neurogenesis and myelination in intelligence.

PMID 29844566 2018 Study of 300,486 individuals identifies 148 independent genetic loci influencing general cognitive function.

rs121434286 in CLN3 gene and Juvenile Neuronal Ceroid Lipofuscinosis PMID 21990111 2012 Update of the mutation spectrum and clinical correlations of over 360 mutations in eight genes that underlie the neuronal ceroid lipofuscinoses.

PMID 22261744 2012 Neuronal ceroid lipofuscinosis protein CLN3 interacts with motor proteins and modifies location of late endosomal compartments.

PMID 9490299 1998 Molecular screening of Batten disease: identification of a missense mutation (E295K) in the CLN3 gene.

PMID 9311735 1997 Spectrum of mutations in the Batten disease gene, CLN3.

PMID 25525159 2015 RNA splicing. The human splicing code reveals new insights into the genetic determinants of disease.

PMID 7553855 1995 Isolation of a novel gene underlying Batten disease, CLN3. The International Batten Disease Consortium.

PMID 17947292 2008 A function retained by the common mutant CLN3 protein is responsible for the late onset of juvenile neuronal ceroid lipofuscinosis.

PMID 10332042 1999 Defective intracellular transport of CLN3 is the molecular basis of Batten disease (JNCL)

PMID 19489875 2009 Protracted course of juvenile ceroid lipofuscinosis associated with a novel CLN3 mutation (p.Y199X).

PMID 22545070 2012 The juvenile Batten disease protein, CLN3, and its role in regulating anterograde and retrograde post-Golgi trafficking.

PMID 12189165 2002 Motifs within the CLN3 protein: modulation of cell growth rates and apoptosis.

PMID 9618513 1998 A yeast model for the study of Batten disease.

PMID 10924275 2000 Mutant CLN3 protein (R334C) that is associated with the classical JNCL phenotype was devoid of biological activities of wild-type CLN3 protein.

PMID 9490299 1998 Molecular screening of Batten disease: identification of a missense mutation (E295K) in the CLN3 gene.

PMID 19132115 2009 The fission yeast model for the lysosomal storage disorder Batten disease predicts disease severity caused by mutations in CLN3.

PMID 21499717 2011 Juvenile neuronal ceroid lipofuscinosis: clinical course and genetic studies in Spanish patients.

PMID 10749980 2000 Batten disease: evaluation of CLN3 mutations on protein localization and function.

PMID 20187884 2010 Genotype does not predict severity of behavioural phenotype in juvenile neuronal ceroid lipofuscinosis (Batten disease).

PMID 23539563 2013 The role of nonsense-mediated decay in neuronal ceroid lipofuscinosis.

PMID 14699076 2004 Two motifs target Batten disease protein CLN3 to lysosomes in transfected nonneuronal and neuronal cells.

PMID 9932957 1999 Delayed classic and protracted phenotypes of compound heterozygous juvenile neuronal ceroid lipofuscinosis.

PMID 22013180 2011 Quantifying physical decline in juvenile neuronal ceroid lipofuscinosis (Batten disease).

PMID 23374165 2013 Molecular epidemiology of childhood neuronal ceroid-lipofuscinosis in Italy.

rs386833694 in CLN3 gene and Neuronal Ceroid-Lipofuscinoses PMID 17868323 2007 Increased expression of lysosomal acid phosphatase in CLN3-defective cells and mouse brain tissue.

PMID 17475770 2007 Nitric oxide signaling is disrupted in the yeast model for Batten disease.

PMID 10749980 2000 Batten disease: evaluation of CLN3 mutations on protein localization and function.

PMID 16291725 2005 btn1, the Schizosaccharomyces pombe homologue of the human Batten disease gene CLN3, regulates vacuole homeostasis.

PMID 9311735 1997 Spectrum of mutations in the Batten disease gene, CLN3.

PMID 19132115 2009 The fission yeast model for the lysosomal storage disorder Batten disease predicts disease severity caused by mutations in CLN3.

PMID 20187884 2010 Genotype does not predict severity of behavioural phenotype in juvenile neuronal ceroid lipofuscinosis (Batten disease).

PMID 21499717 2011 Juvenile neuronal ceroid lipofuscinosis: clinical course and genetic studies in Spanish patients.

PMID 21990111 2012 Update of the mutation spectrum and clinical correlations of over 360 mutations in eight genes that underlie the neuronal ceroid lipofuscinoses.

PMID 23539563 2013 The role of nonsense-mediated decay in neuronal ceroid lipofuscinosis.

PMID 24271013 2014 Human iPSC models of neuronal ceroid lipofuscinosis capture distinct effects of TPP1 and CLN3 mutations on the endocytic pathway.

PMID 17947292 2008 A function retained by the common mutant CLN3 protein is responsible for the late onset of juvenile neuronal ceroid lipofuscinosis.

rs139842473 in CLN3 gene and Retinitis Pigmentosa PMID 24154662 2014 Next generation sequencing-based molecular diagnosis of retinitis pigmentosa: identification of a novel genotype-phenotype correlation and clinical refinements.