GenTIGS

CLN6 transmembrane ER protein (CLN6) Associated conditions: 1. Spastic ataxia 2. Neuronal ceroid lipofuscinosis

mRNA Information: Transcript Variants and Protein Isoforms

SNo.	Status	mRNA accession	Protein accession	Genomic DNA accession (Chromosome)	mRNA location on genomic DNA	Assembly	UniProtkb ID
1	REVIEWED	NM_001411068.1	NP_001397997.1	NC_000015.10	(68206991..68257210, complement)	Reference GRCh38.p14 Primary Assembly	-
2	REVIEWED	NM_017882.3	NP_060352.1	NC_000015.10	(68206991..68257210, complement)	Reference GRCh38.p14 Primary Assembly	-

Transcript variants arise from alternative splicing during gene expression, producing multiple mRNA transcripts from a single gene, each encoding distinct protein isoforms.

PubMed Links for Transcript Variants (Isoforms)

Link 192 reference articles

Variant Information CLN6 transmembrane ER protein (CLN6) Mutation Visualization Dashboard: Pathogenic variant distribution chart

IndiGenomes variants: Exploring and mapping pathogenic variants in gene CLN6 transmembrane ER protein (CLN6)

ClinVar variants:Revealing mutagenic patterns

GO Term of CLN6 transmembrane ER protein (CLN6)

SNo.	Reported in speceis	Evidence	Qualifier	GO term	Category	Pubmed Link
1	Homo sapiens	IMP	involved_in	ganglioside metabolic process	Process	16857350
2	Homo sapiens	IPI	enables	protein binding	Function	17237713 19235893 19941651 30177828 32296183 32814053
3	Homo sapiens	IDA	located_in	early endosome	Component	17237713
4	Homo sapiens	IBA	is_active_in	endoplasmic reticulum	Component	-
5	Homo sapiens	IDA	located_in	endoplasmic reticulum	Component	15265688 19941651
6	Homo sapiens	IEA	located_in	endoplasmic reticulum	Component	-
7	Homo sapiens	IDA	located_in	endoplasmic reticulum lumen	Component	15010453
8	Homo sapiens	IEA	located_in	endoplasmic reticulum membrane	Component	-
9	Homo sapiens	IBA	involved_in	lysosome organization	Process	-
10	Homo sapiens	IMP	involved_in	lysosomal lumen acidification	Process	11722572
11	Homo sapiens	IMP	involved_in	cholesterol metabolic process	Process	16857350
12	Homo sapiens	HDA	located_in	membrane	Component	19946888
13	Homo sapiens	IBA	is_active_in	membrane	Component	-
14	Homo sapiens	NAS	located_in	membrane	Component	11727201
15	Homo sapiens	NAS	involved_in	protein catabolic process	Process	10740217
16	Homo sapiens	IMP	involved_in	glycosaminoglycan metabolic process	Process	16857350
17	Homo sapiens	IDA	enables	lysophosphatidic acid binding	Function	18317235
18	Homo sapiens	IDA	enables	protein homodimerization activity	Function	15010453
19	Homo sapiens	IDA	located_in	membrane raft	Component	17237713
20	Homo sapiens	IMP	involved_in	positive regulation of proteolysis	Process	15010453
21	Homo sapiens	IDA	enables	sulfatide binding	Function	18317235