CLN3 (CLN3 lysosomal/endosomal transmembrane protein, battenin)

2016-10-01  

Identity

HGNC
CLN3
LOCATION
16p12.1
LOCUSID
1201
ALIAS
BTN1,BTS,JNCL
FUSION GENES
Show Gene Fusions

Other Information

Locus ID:

NCBI: 1201
MIM: 607042
HGNC: 2074
Ensembl: ENSG00000261832

Variants:

dbSNP: 1201
ClinVar: 1201
TCGA: ENSG00000261832
COSMIC: CLN3

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000261832ENST00000568224Q2TA70
ENSG00000261832ENST00000635887A0A024QZB8
ENSG00000261832ENST00000636017Q9UP10
ENSG00000261832ENST00000636503A0A1B0GW34
ENSG00000261832ENST00000636766A0A024QZB8
ENSG00000261832ENST00000636866A0A1B0GWD3
ENSG00000261832ENST00000637299A0A1B0GTS8
ENSG00000261832ENST00000637376A0A1B0GW34
ENSG00000261832ENST00000637378A0A1B0GW90
ENSG00000261832ENST00000637745A0A1B0GUX3
ENSG00000261832ENST00000638036A0A1B0GWH9

Pathways

PathwaySourceExternal ID
LysosomeKEGGko04142
LysosomeKEGGhsa04142

References

Pubmed IDYearTitleCitations
381951172024CLN3 deficiency leads to neurological and metabolic perturbations during early development.2
381951172024CLN3 deficiency leads to neurological and metabolic perturbations during early development.2
369656182023The Batten disease protein CLN3 is important for stress granules dynamics and translational activity.1
374004402023Loss of the batten disease protein CLN3 leads to mis-trafficking of M6PR and defective autophagic-lysosomal reformation.7
369656182023The Batten disease protein CLN3 is important for stress granules dynamics and translational activity.1
374004402023Loss of the batten disease protein CLN3 leads to mis-trafficking of M6PR and defective autophagic-lysosomal reformation.7
349646902022Converging roles of PSENEN/PEN2 and CLN3 in the autophagy-lysosome system.7
361310162022CLN3 is required for the clearance of glycerophosphodiesters from lysosomes.29
349646902022Converging roles of PSENEN/PEN2 and CLN3 in the autophagy-lysosome system.7
361310162022CLN3 is required for the clearance of glycerophosphodiesters from lysosomes.29
334975242021Gene correction of the CLN3 c.175G>A variant in patient-derived induced pluripotent stem cells prevents pathological changes in retinal organoids.10
335072162021Retinal Phenotype of Patients With Isolated Retinal Degeneration Due to CLN3 Pathogenic Variants in a French Retinitis Pigmentosa Cohort.18
335473852021A human model of Batten disease shows role of CLN3 in phagocytosis at the photoreceptor-RPE interface.13
335593932021Characterizing upper limb function in the context of activities of daily living in CLN3 disease.1
337375782021Global network analysis in Schizosaccharomyces pombe reveals three distinct consequences of the common 1-kb deletion causing juvenile CLN3 disease.8

Citation

Dessen P

CLN3 (CLN3 lysosomal/endosomal transmembrane protein, battenin)

Atlas Genet Cytogenet Oncol Haematol. 2016-10-01

Online version: http://atlasgeneticsoncology.org/gene/56249