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CLN8 CLN8 transmembrane ER and ERGIC protein [ Homo sapiens (human) ]

Gene ID: 2055, updated on 3-May-2019

Summary

Official Symbol
CLN8provided by HGNC
Official Full Name
CLN8 transmembrane ER and ERGIC proteinprovided by HGNC
Primary source
HGNC:HGNC:2079
See related
Ensembl:ENSG00000182372 MIM:607837
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; TLCD6; 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 a disorder characterized by progressive epilepsy with cognitive disabilities (EPMR), 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 2017]
Expression
Ubiquitous expression in brain (RPKM 5.7), spleen (RPKM 4.0) and 25 other tissues See more
Orthologs

Genomic context

See CLN8 in Genome Data Viewer
Location:
8p23.3
Exon count:
7
Annotation release Status Assembly Chr Location
109 current GRCh38.p12 (GCF_000001405.38) 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 DLG associated protein 2 Neighboring gene conserved acetylation island sequence 7 enhancer Neighboring gene uncharacterized LOC105377778 Neighboring gene DNA fragmentation factor subunit alpha pseudogene Neighboring gene uncharacterized LOC101927752 Neighboring gene uncharacterized LOC105377779 Neighboring gene microRNA 3674

Genomic regions, transcripts, and products

Expression

  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

Phenotypes

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

Pathways from BioSystems

  • 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...

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • FLJ39417

Gene Ontology Provided by GOA

Process Evidence Code Pubs
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 
negative regulation of proteolysis NAS
Non-traceable Author Statement
more info
PubMed 
nervous system development IMP
Inferred from Mutant Phenotype
more info
PubMed 
phospholipid metabolic process IMP
Inferred from Mutant Phenotype
more info
PubMed 
protein catabolic process NAS
Non-traceable Author Statement
more info
PubMed 
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 

General protein information

Preferred Names
protein CLN8
Names
ceroid-lipofuscinosis, neuronal 8

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

  1. NG_008656.2 RefSeqGene

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

mRNA and Protein(s)

  1. NM_018941.3NP_061764.2  protein CLN8

    See identical proteins and their annotated locations for NP_061764.2

    Status: REVIEWED

    Source sequence(s)
    AC100810, AF123761, AW296697, BC007725, DA193710
    Consensus CDS
    CCDS5956.1
    UniProtKB/Swiss-Prot
    Q9UBY8
    UniProtKB/TrEMBL
    A0A024QZ57
    Related
    ENSP00000328182.4, ENST00000331222.5
    Conserved Domains (1) summary
    smart00724
    Location:64262
    TLC; TRAM, LAG1 and CLN8 homology domains

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109

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

Reference GRCh38.p12 Primary Assembly

Genomic

  1. NC_000008.11 Reference GRCh38.p12 Primary Assembly

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

mRNA and Protein(s)

  1. XM_005266022.1XP_005266079.1  protein CLN8 isoform X1

    See identical proteins and their annotated locations for XP_005266079.1

    UniProtKB/Swiss-Prot
    Q9UBY8
    UniProtKB/TrEMBL
    A0A024QZ57
    Conserved Domains (1) summary
    smart00724
    Location:64262
    TLC; TRAM, LAG1 and CLN8 homology domains
  2. XM_011534747.2XP_011533049.1  protein CLN8 isoform X2

    See identical proteins and their annotated locations for XP_011533049.1

    Conserved Domains (1) summary
    cl02759
    Location:64181
    TRAM_LAG1_CLN8; TLC domain
  3. XM_005266023.1XP_005266080.1  protein CLN8 isoform X1

    See identical proteins and their annotated locations for XP_005266080.1

    UniProtKB/Swiss-Prot
    Q9UBY8
    UniProtKB/TrEMBL
    A0A024QZ57
    Related
    ENSP00000490016.1, ENST00000519254.2
    Conserved Domains (1) summary
    smart00724
    Location:64262
    TLC; TRAM, LAG1 and CLN8 homology domains
  4. XM_011534745.1XP_011533047.1  protein CLN8 isoform X1

    See identical proteins and their annotated locations for XP_011533047.1

    UniProtKB/Swiss-Prot
    Q9UBY8
    UniProtKB/TrEMBL
    A0A024QZ57
    Related
    ENSP00000489694.1, ENST00000635751.1
    Conserved Domains (1) summary
    smart00724
    Location:64262
    TLC; TRAM, LAG1 and CLN8 homology domains
  5. XM_005266021.4XP_005266078.1  protein CLN8 isoform X1

    See identical proteins and their annotated locations for XP_005266078.1

    UniProtKB/Swiss-Prot
    Q9UBY8
    UniProtKB/TrEMBL
    A0A024QZ57
    Related
    ENSP00000490458.1, ENST00000637156.1
    Conserved Domains (1) summary
    smart00724
    Location:64262
    TLC; TRAM, LAG1 and CLN8 homology domains
  6. XM_011534746.2XP_011533048.1  protein CLN8 isoform X1

    See identical proteins and their annotated locations for XP_011533048.1

    UniProtKB/Swiss-Prot
    Q9UBY8
    UniProtKB/TrEMBL
    A0A024QZ57
    Conserved Domains (1) summary
    smart00724
    Location:64262
    TLC; TRAM, LAG1 and CLN8 homology domains

Reference GRCh38.p12 ALT_REF_LOCI_3

Genomic

  1. NT_187680.1 Reference GRCh38.p12 ALT_REF_LOCI_3

    Range
    176362..199228
    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.
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