Display Settings:

Format

Send to:

Choose Destination

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

Gene ID: 2055, updated on 26-Aug-2014
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
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]
See CLN8 in Epigenomics
Location:
8p23
Exon count:
9
Annotation release Status Assembly Chr Location
106 current GRCh38 (GCF_000001405.26) 8 NC_000008.11 (1755778..1786570)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 8 NC_000008.10 (1703944..1734736)

Chromosome 8 - NC_000008.11Genomic Context describing neighboring genes Neighboring gene discs, large (Drosophila) homolog-associated protein 2 Neighboring gene DLGAP2 antisense RNA 1 Neighboring gene DNA fragmentation factor, 45kDa, alpha polypeptide pseudogene Neighboring gene uncharacterized LOC101927752 Neighboring gene microRNA 3674 Neighboring gene microRNA 596

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

NHGRI GWAS Catalog

Description
Genome-wide association study of N370S homozygous Gaucher disease reveals the candidacy of CLN8 gene as a genetic modifier contributing to extreme phenotypic variation.
NHGRI GWA Catalog
  • Synaptic Vesicle Pathway, organism-specific biosystem (from WikiPathways)
    Synaptic Vesicle Pathway, organism-specific biosystemPathway depicting synaptic transmission of neurotransmitters from the presynaptic nerve terminal to the synaptic cleft upon depolarization. Synaptotagmin mediated transport along the nerve cell cytos...
Products Interactant Other Gene Complex Source Pubs Description

Markers

Homology

Clone Names

  • FLJ39417

Gene Ontology Provided by GOA

Process Evidence Code Pubs
L-glutamate uptake involved in synaptic transmission IEA
Inferred from Electronic Annotation
more info
 
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 
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
 
visual perception 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 component of membrane NAS
Non-traceable Author Statement
more info
PubMed 
mitochondrion IEA
Inferred from Electronic Annotation
more info
 
Preferred Names
protein CLN8
Names
protein CLN8

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

  1. NG_008656.2 

    Range
    12927..35793
    Download
    GenBank, FASTA, Sequence Viewer (Graphics), LRG_691

mRNA and Protein(s)

  1. NM_018941.3NP_061764.2  protein CLN8

    See proteins identical to NP_061764.2

    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
    smart00724
    Location:64262
    Blast Score: 313
    TLC; TRAM, LAG1 and CLN8 homology domains

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 106

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

Reference GRCh38 ALT_REF_LOCI_3

Genomic

  1. NT_187680.1 

    Range
    168436..199228
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_006725754.1XP_006725817.1  

    See proteins identical to XP_006725817.1

    UniProtKB/Swiss-Prot
    Q9UBY8
    Conserved Domains (1) summary
    smart00724
    Location:64262
    Blast Score: 313
    TLC; TRAM, LAG1 and CLN8 homology domains
  2. XM_006725753.1XP_006725816.1  

    See proteins identical to XP_006725816.1

    UniProtKB/Swiss-Prot
    Q9UBY8
    Conserved Domains (1) summary
    smart00724
    Location:64262
    Blast Score: 313
    TLC; TRAM, LAG1 and CLN8 homology domains
  3. XM_006725755.1XP_006725818.1  

    See proteins identical to XP_006725818.1

    UniProtKB/Swiss-Prot
    Q9UBY8
    Conserved Domains (1) summary
    smart00724
    Location:64262
    Blast Score: 313
    TLC; TRAM, LAG1 and CLN8 homology domains
  4. XM_006725759.1XP_006725822.1  

    See proteins identical to XP_006725822.1

    UniProtKB/Swiss-Prot
    Q9UBY8
    Conserved Domains (1) summary
    smart00724
    Location:64262
    Blast Score: 313
    TLC; TRAM, LAG1 and CLN8 homology domains
  5. XM_006725756.1XP_006725819.1  

    See proteins identical to XP_006725819.1

    UniProtKB/Swiss-Prot
    Q9UBY8
    Conserved Domains (1) summary
    smart00724
    Location:64262
    Blast Score: 313
    TLC; TRAM, LAG1 and CLN8 homology domains
  6. XM_006725757.1XP_006725820.1  

    See proteins identical to XP_006725820.1

    UniProtKB/Swiss-Prot
    Q9UBY8
    Conserved Domains (1) summary
    smart00724
    Location:64262
    Blast Score: 313
    TLC; TRAM, LAG1 and CLN8 homology domains
  7. XM_006725758.1XP_006725821.1  

    See proteins identical to XP_006725821.1

    UniProtKB/Swiss-Prot
    Q9UBY8
    Conserved Domains (1) summary
    smart00724
    Location:64262
    Blast Score: 313
    TLC; TRAM, LAG1 and CLN8 homology domains

Reference GRCh38 Primary Assembly

Genomic

  1. NC_000008.11 

    Range
    1755778..1786570
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_005266022.1XP_005266079.1  

    See proteins identical to XP_005266079.1

    UniProtKB/Swiss-Prot
    Q9UBY8
    Conserved Domains (1) summary
    smart00724
    Location:64262
    Blast Score: 313
    TLC; TRAM, LAG1 and CLN8 homology domains
  2. XM_005266028.1XP_005266085.1  

    Conserved Domains (1) summary
    cl02759
    Location:64182
    Blast Score: 184
    TRAM_LAG1_CLN8; TLC domain
  3. XM_005266021.2XP_005266078.1  

    See proteins identical to XP_005266078.1

    UniProtKB/Swiss-Prot
    Q9UBY8
    Conserved Domains (1) summary
    smart00724
    Location:64262
    Blast Score: 313
    TLC; TRAM, LAG1 and CLN8 homology domains
  4. XM_005266023.1XP_005266080.1  

    See proteins identical to XP_005266080.1

    UniProtKB/Swiss-Prot
    Q9UBY8
    Conserved Domains (1) summary
    smart00724
    Location:64262
    Blast Score: 313
    TLC; TRAM, LAG1 and CLN8 homology domains
  5. XM_005266025.1XP_005266082.1  

    See proteins identical to XP_005266082.1

    UniProtKB/Swiss-Prot
    Q9UBY8
    Conserved Domains (1) summary
    smart00724
    Location:64262
    Blast Score: 313
    TLC; TRAM, LAG1 and CLN8 homology domains
  6. XM_005266024.2XP_005266081.1  

    See proteins identical to XP_005266081.1

    UniProtKB/Swiss-Prot
    Q9UBY8
    Conserved Domains (1) summary
    smart00724
    Location:64262
    Blast Score: 313
    TLC; TRAM, LAG1 and CLN8 homology domains
  7. XM_005266026.2XP_005266083.1  

    See proteins identical to XP_005266083.1

    UniProtKB/Swiss-Prot
    Q9UBY8
    Conserved Domains (1) summary
    smart00724
    Location:64262
    Blast Score: 313
    TLC; TRAM, LAG1 and CLN8 homology domains
  8. XM_005266027.2XP_005266084.1  

    See proteins identical to XP_005266084.1

    UniProtKB/Swiss-Prot
    Q9UBY8
    Conserved Domains (1) summary
    smart00724
    Location:64262
    Blast Score: 313
    TLC; TRAM, LAG1 and CLN8 homology domains

Alternate HuRef

Genomic

  1. AC_000140.1 

    Range
    1526501..1549279
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate CHM1_1.1

Genomic

  1. NC_018919.2 

    Range
    1711562..1734347
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Suppressed Reference Sequence(s)

The following Reference Sequences have been suppressed. Explain

  1. NM_001034061.1: Suppressed sequence

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