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Gene: CLN8 (CLN8 transmembrane ER and ERGIC protein) Homo sapiens
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Symbol: CLN8
Name: CLN8 transmembrane ER and ERGIC protein
Description: Exhibits ceramide binding activity. Involved in several processes, including ceramide metabolic process; cholesterol metabolic process; and phospholipid metabolic process. Localizes to endoplasmic reticulum and endoplasmic reticulum-Golgi intermediate compartment. Implicated in neuronal ceroid lipofuscinosis 8 and neuronal ceroid lipofuscinosis 8 northern epilepsy variant.
Type: protein-coding
RefSeq Status: REVIEWED
Also known as: C8orf61; ceroid-lipofuscinosis, neuronal 8; ceroid-lipofuscinosis, neuronal 8 (epilepsy, progressive with mental retardation); chromosome 8 open reading frame 61; EPMR; FLJ39417; putative uncharacterized protein C8orf61; TLCD6
Orthologs:
Mus musculus (house mouse) : Cln8 (CLN8 transmembrane ER and ERGIC protein)  MGI  Alliance
Rattus norvegicus (Norway rat) : Cln8 (CLN8, transmembrane ER and ERGIC protein)  Alliance
Chinchilla lanigera (long-tailed chinchilla) : Cln8 (CLN8 transmembrane ER and ERGIC protein)
Pan paniscus (bonobo/pygmy chimpanzee) : CLN8 (CLN8 transmembrane ER and ERGIC protein)
Canis lupus familiaris (dog) : CLN8 (CLN8 transmembrane ER and ERGIC protein)
Ictidomys tridecemlineatus (thirteen-lined ground squirrel) : Cln8 (CLN8 transmembrane ER and ERGIC protein)
Sus scrofa (pig) : CLN8 (CLN8 transmembrane ER and ERGIC protein)
Chlorocebus sabaeus (African green monkey) : CLN8 (CLN8 transmembrane ER and ERGIC protein)
Heterocephalus glaber (naked mole-rat) : Cln8 (CLN8 transmembrane ER and ERGIC protein)
more info ...
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 Ensembl81,755,778 - 1,801,711 (+)EnsemblGRCh38hg38GRCh38
GRCh3881,755,778 - 1,786,570 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh3781,703,944 - 1,734,736 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 3681,699,277 - 1,722,143 (+)NCBINCBI36hg18NCBI36
Build 3481,699,347 - 1,719,857NCBI
Celera81,654,899 - 1,677,784 (+)NCBI
Cytogenetic Map8p23.3NCBI
HuRef81,526,501 - 1,549,279 (+)NCBIHuRef
CHM1_181,711,562 - 1,734,347 (+)NCBICHM1_1
JBrowse: View Region in Genome Browser (JBrowse)
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RNA-SEQ Expression

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Nomenclature History
 
More on CLN8
Alliance Gene
NCBI Gene
Ensembl Gene
JBrowse: hg19 hg38
HGNC Report
NCBI Genome Data Viewer

RGD Object Information
RGD ID: 1346223
Created: 2005-03-08
Species: Homo sapiens
Last Modified: 2020-07-21
Status: ACTIVE



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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.