CLN8 ceroid-lipofuscinosis, neuronal 8 (epilepsy, progressive with mental retardation) [Homo sapiens] - Gene

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Summary

Official Symbol: CLN8provided by HGNC
Official Full Name: ceroid-lipofuscinosis, neuronal 8 (epilepsy, progressive with mental retardation)provided by HGNC
Primary source: HGNC:2079
See related: Ensembl:ENSG00000182372; HPRD:06383; MIM:607837; Vega:OTTHUMG00000090343
Gene type: protein coding
RefSeq status: REVIEWED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: EPMR; C8orf61; FLJ39417
Summary: This gene encodes a transmembrane protein belonging to a family of proteins containing TLC domains, which are postulated to function in lipid synthesis, transport, or sensing. The protein localizes to the endoplasmic reticulum (ER), and may recycle between the ER and ER-Golgi intermediate compartment. Mutations in this gene are associated with progressive epilepsy with mental retardation (EMPR), which is a subtype of neuronal ceroid lipofuscinoses (NCL). Patients with mutations in this gene have altered levels of sphingolipid and phospholipids in the brain. [provided by RefSeq, Jul 2008]

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Genomic context

Location :: 8p23

Sequence :: Chromosome: 8; NC_000008.10 (1711870..1734736)

See CLN8 in Epigenomics, MapViewer

Chromosome 8 - NC_000008.10 Genomic Context describing neighboring genes

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Genomic regions, transcripts, and products

Genomic Sequence

Go to nucleotideGraphics FASTA GenBank

Go to reference sequence details

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Bibliography

GeneRIFs: Gene References Into Functions What's a GeneRIF?

a novel, large CLN8 gene deletion c.544-2566_590del2613 in a Turkish family with a slightly more severe phenotype of neuronal ceroid lipofuscinose was described.
Title: Novel CLN8 mutations confirm the clinical and ethnic diversity of late infantile neuronal ceroid lipofuscinosis.
CLN8 plays a role in cell proliferation during neuronal differentiation and in protection against cell death.
Title: A novel CLN8 mutation in late-infantile-onset neuronal ceroid lipofuscinosis (LINCL) reveals aspects of CLN8 neurobiological function.
Observational study of gene-disease association. (HuGE Navigator)
Title: Mutations in CLN7/MFSD8 are a common cause of variant late-infantile neuronal ceroid lipofuscinosis.
patients with CLN8 mutations from Italy. In these patients, the onset of epilepsy occurred between 3 and 6 years of age, with myoclonic, tonic-clonic, and atypical absence seizures. Electroencephalograms revealed focal and/or generalized abnormalities.
Title: Clinical and electrophysiological features of epilepsy in Italian patients with CLN8 mutations.

Submit: New GeneRIF Correction

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Phenotypes

Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Ceroid lipofuscinosis, neuronal, 8

MIM: 600143

Ceroid lipofuscinosis, neuronal, 8, Northern epilepsy variant

MIM: 610003

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Process	Evidence Code	Pubs
adult walking behavior	IEA Inferred from Electronic Annotation more info
age-dependent response to oxidative stress	IEA Inferred from Electronic Annotation more info
associative learning	IEA Inferred from Electronic Annotation more info
cell death	IEA Inferred from Electronic Annotation more info
cellular protein catabolic process	IEA Inferred from Electronic Annotation more info
ceramide biosynthetic process	NAS Non-traceable Author Statement more info	PubMed
ceramide metabolic process	IMP Inferred from Mutant Phenotype more info	PubMed
cholesterol metabolic process	IMP Inferred from Mutant Phenotype more info	PubMed
glutamate uptake involved in synaptic transmission	IEA Inferred from Electronic Annotation more info
lipid biosynthetic process	NAS Non-traceable Author Statement more info	PubMed
lipid transport	NAS Non-traceable Author Statement more info	PubMed
lysosome organization	IEA Inferred from Electronic Annotation more info
mitochondrial membrane organization	IEA Inferred from Electronic Annotation more info
musculoskeletal movement	IEA Inferred from Electronic Annotation more info
negative regulation of apoptotic process	IEA Inferred from Electronic Annotation more info
negative regulation of proteolysis	NAS Non-traceable Author Statement more info	PubMed
negative regulation of transferase activity	IEA Inferred from Electronic Annotation more info
nervous system development	IMP Inferred from Mutant Phenotype more info	PubMed
neurofilament cytoskeleton organization	IEA Inferred from Electronic Annotation more info
neuromuscular process controlling balance	IEA Inferred from Electronic Annotation more info
neuromuscular process controlling posture	IEA Inferred from Electronic Annotation more info
phospholipid metabolic process	IMP Inferred from Mutant Phenotype more info	PubMed
photoreceptor cell maintenance	IEA Inferred from Electronic Annotation more info
protein catabolic process	NAS Non-traceable Author Statement more info	PubMed
regulation of cell size	IEA Inferred from Electronic Annotation more info
retina development in camera-type eye	IEA Inferred from Electronic Annotation more info
social behavior	IEA Inferred from Electronic Annotation more info
somatic motor neuron differentiation	IEA Inferred from Electronic Annotation more info

Component	Evidence Code	Pubs
endoplasmic reticulum	IDA Inferred from Direct Assay more info	PubMed
endoplasmic reticulum membrane	IEA Inferred from Electronic Annotation more info
endoplasmic reticulum-Golgi intermediate compartment	IDA Inferred from Direct Assay more info	PubMed
endoplasmic reticulum-Golgi intermediate compartment membrane	IEA Inferred from Electronic Annotation more info
integral to membrane	NAS Non-traceable Author Statement more info	PubMed
membrane	IEA Inferred from Electronic Annotation more info

General protein information

Preferred Names: protein CLN8

Names: protein CLN8

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NCBI Reference Sequences (RefSeq)

RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

NG_008656.1 RefSeqGene

Range

5001..27867

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

NM_018941.3 → NP_061764.2 protein CLN8

Status: REVIEWED

Source sequence(s)

AC100810, AF123761, AW296697, BC007725, DA193710

Consensus CDS

CCDS5956.1

UniProtKB/Swiss-Prot

Q9UBY8

Related

ENSP00000328182, OTTHUMP00000115401, ENST00000331222, OTTHUMT00000206715

Conserved Domains (1) summary

cl02759
Location:64 – 262
Blast Score: 288

TRAM_LAG1_CLN8; TLC domain

RefSeqs of Annotated Genomes: Build 37.3

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh37.p5 Primary Assembly

Genomic

NC_000008.10 Reference GRCh37.p5 Primary Assembly

Range

1711870..1734736

Download

GenBank, FASTA, Sequence Viewer (Graphics)

Alternate HuRef

Genomic

AC_000140.1 Alternate HuRef

Range

1526501..1549279

Download

GenBank, FASTA, Sequence Viewer (Graphics)

Suppressed Reference Sequence(s)

The following Reference Sequences have been suppressed. Explain

NM_001034061.1: Suppressed sequence

Description

NM_001034061.1: This RefSeq was permanently suppressed because it is entirely UTR sequence.

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Related Sequences

Nucleotide		Protein
Heading	Accession and Version	Protein
genomic	AC100810.18 (30054..52920)	None
genomic	CH471181.1	EAW51477.1
		EAW51478.1
		EAW51479.1
genomic	CS072298.1	CAI93436.1
mRNA	AF123757.1	AAF13115.1
mRNA	AF123758.1	AAF13116.1
mRNA	AF123759.1	AAF13117.1
mRNA	AF123760.1	AAF13118.1
mRNA	AF123761.1	AAF13119.1
mRNA	AK096736.1	BAC04854.1
mRNA	AK312486.1	None
mRNA	AW296697.1	None
mRNA	BC007725.2	AAH07725.1
mRNA	BC136825.1	AAI36826.1
mRNA	BT007049.1	AAP35698.1
mRNA	DA193710.1	None