CLN3 (CLN3 lysosomal/endosomal transmembrane protein, battenin)

2016-10-01 Affiliation

HGNC

CLN3

LOCATION

16p12.1

LOCUSID

1201

ALIAS

BTN1,BTS,JNCL

FUSION GENES

Show Gene Fusions

Non-annotated gene. Preliminary data : if you are an author who wish to write a full paper/card on this gene, contribute in submission tool

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

Pathway	Source	External ID
Lysosome	KEGG	ko04142
Lysosome	KEGG	hsa04142

Pubmed ID	Year	Title	Citations
16714284	2006	Autophagy is disrupted in a knock-in mouse model of juvenile neuronal ceroid lipofuscinosis.	93
24154662	2014	Next generation sequencing-based molecular diagnosis of retinitis pigmentosa: identification of a novel genotype-phenotype correlation and clinical refinements.	88
15471887	2004	Interconnections of CLN3, Hook1 and Rab proteins link Batten disease to defects in the endocytic pathway.	55
24271013	2014	Human iPSC models of neuronal ceroid lipofuscinosis capture distinct effects of TPP1 and CLN3 mutations on the endocytic pathway.	40
15657902	2005	CLN3, the protein associated with batten disease: structure, function and localization.	39
14699076	2004	Two motifs target Batten disease protein CLN3 to lysosomes in transfected nonneuronal and neuronal cells.	35
14660799	2003	A role in vacuolar arginine transport for yeast Btn1p and for human CLN3, the protein defective in Batten disease.	33
18817525	2008	Loss of the Batten disease gene CLN3 prevents exit from the TGN of the mannose 6-phosphate receptor.	32
16251196	2005	Defective lysosomal arginine transport in juvenile Batten disease.	25
22261744	2012	Neuronal ceroid lipofuscinosis protein CLN3 interacts with motor proteins and modifies location of late endosomal compartments.	25

Dessen P

CLN3 (CLN3 lysosomal/endosomal transmembrane protein, battenin)

Atlas Genet Cytogenet Oncol Haematol. 2016-10-01