GenTIGS

CLN8 transmembrane ER and ERGIC protein (CLN8) Associated conditions: 1. 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_018941.4	NP_061764.2	NC_000008.11	(1753058..1786569)	Reference GRCh38.p14 Primary Assembly	-
2	REVIEWED	NM_018941.4	NP_061764.2	NT_187680.1	(165716..199227)	Reference GRCh38.p14 ALT_REF_LOCI_3	-

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 139 reference articles

Variant Information CLN8 transmembrane ER and ERGIC protein (CLN8) Mutation Visualization Dashboard: Pathogenic variant distribution chart

ClinVar variants:Revealing mutagenic patterns

GO Term of CLN8 transmembrane ER and ERGIC protein (CLN8)

SNo.	Reported in speceis	Evidence	Qualifier	GO term	Category	Pubmed Link
1	Homo sapiens	IPI	enables	protein binding	Function	17237713
2	Homo sapiens	IBA	is_active_in	endoplasmic reticulum	Component	-
3	Homo sapiens	IDA	located_in	endoplasmic reticulum	Component	10861296 19941651
4	Homo sapiens	IEA	located_in	endoplasmic reticulum	Component	-
5	Homo sapiens	IEA	located_in	endoplasmic reticulum membrane	Component	-
6	Homo sapiens	IDA	located_in	endoplasmic reticulum-Golgi intermediate compartment	Component	10861296
7	Homo sapiens	IBA	involved_in	phospholipid metabolic process	Process	-
8	Homo sapiens	IMP	involved_in	phospholipid metabolic process	Process	16086686
9	Homo sapiens	IMP	involved_in	ceramide metabolic process	Process	16086686
10	Homo sapiens	NAS	involved_in	lipid transport	Process	12151215
11	Homo sapiens	IBA	involved_in	nervous system development	Process	-
12	Homo sapiens	IMP	involved_in	nervous system development	Process	10508524
13	Homo sapiens	IMP	involved_in	cholesterol metabolic process	Process	16086686
14	Homo sapiens	NAS	involved_in	lipid biosynthetic process	Process	12151215
15	Homo sapiens	IEA	located_in	membrane	Component	-
16	Homo sapiens	NAS	located_in	membrane	Component	10508524 10861296
17	Homo sapiens	NAS	involved_in	protein catabolic process	Process	10740217
18	Homo sapiens	IEA	located_in	endoplasmic reticulum-Golgi intermediate compartment membrane	Component	-
19	Homo sapiens	NAS	involved_in	negative regulation of proteolysis	Process	12151215
20	Homo sapiens	NAS	involved_in	ceramide biosynthetic process	Process	12151215
21	Homo sapiens	IBA	involved_in	lipid homeostasis	Process	-
22	Homo sapiens	IBA	enables	ceramide binding	Function	-
23	Homo sapiens	IDA	enables	ceramide binding	Function	18317235