Atlas of Genetics and Cytogenetics in Oncology and Haematology


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CLN8 (CLN8 transmembrane ER and ERGIC protein)

Identity

Alias (NCBI)C8orf61
EPMR
TLCD6
HGNC (Hugo) CLN8
HGNC Alias symbFLJ39417
TLCD6
HGNC Previous nameEPMR
 C8orf61
HGNC Previous namechromosome 8 open reading frame 61
 epilepsy, progressive with mental retardation
 ceroid-lipofuscinosis, neuronal 8
 CLN8, transmembrane ER and ERGIC protein
LocusID (NCBI) 2055
Atlas_Id 56339
Location 8p23.3  [Link to chromosome band 8p23]
Location_base_pair Starts at 1763789 and ends at 1786570 bp from pter ( according to hg38-Dec_2013)
Fusion genes
(updated 2017)
Data from Atlas, Mitelman, Cosmic Fusion, Fusion Cancer, TCGA fusion databases with official HUGO symbols (see references in chromosomal bands)
CLN8 (8p23.3) / NMT1 (17q21.31)TMEM59 (1p32.3) / CLN8 (8p23.3)

Note

Non-annotated gene. Preliminary data : if you are an author
who wish to write a full paper/card on this gene, go to  How to contribute

DNA/RNA

 



External links

 

Nomenclature
HGNC (Hugo)CLN8   2079
LRG (Locus Reference Genomic)LRG_691
Cards
Entrez_Gene (NCBI)CLN8    CLN8 transmembrane ER and ERGIC protein
AliasesC8orf61; EPMR; TLCD6
GeneCards (Weizmann)CLN8
Ensembl hg19 (Hinxton)ENSG00000182372 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000182372 [Gene_View]  ENSG00000182372 [Sequence]  chr8:1763789-1786570 [Contig_View]  CLN8 [Vega]
ICGC DataPortalENSG00000182372
TCGA cBioPortalCLN8
AceView (NCBI)CLN8
Genatlas (Paris)CLN8
SOURCE (Princeton)CLN8
Genetics Home Reference (NIH)CLN8
Genomic and cartography
GoldenPath hg38 (UCSC)CLN8  -     chr8:1763789-1786570 +  8p23.3   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)CLN8  -     8p23.3   [Description]    (hg19-Feb_2009)
GoldenPathCLN8 - 8p23.3 [CytoView hg19]  CLN8 - 8p23.3 [CytoView hg38]
ImmunoBaseENSG00000182372
Genome Data Viewer NCBICLN8 [Mapview hg19]  
OMIM600143   607837   610003   
Gene and transcription
Genbank (Entrez)AF123757 AF123758 AF123759 AF123760 AF123761
RefSeq transcript (Entrez)NM_001034061 NM_018941
Consensus coding sequences : CCDS (NCBI)CLN8
Gene ExpressionCLN8 [ NCBI-GEO ]   CLN8 [ EBI - ARRAY_EXPRESS ]   CLN8 [ SEEK ]   CLN8 [ MEM ]
Gene Expression Viewer (FireBrowse)CLN8 [ Firebrowse - Broad ]
GenevisibleExpression of CLN8 in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)2055
GTEX Portal (Tissue expression)CLN8
Human Protein AtlasENSG00000182372-CLN8 [pathology]   [cell]   [tissue]
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ9UBY8   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ9UBY8  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ9UBY8
PhosPhoSitePlusQ9UBY8
Domaine pattern : Prosite (Expaxy)TLC (PS50922)   
Domains : Interpro (EBI)TLC-dom   
Domain families : Pfam (Sanger)TRAM_LAG1_CLN8 (PF03798)   
Domain families : Pfam (NCBI)pfam03798   
Domain families : Smart (EMBL)TLC (SM00724)  
Conserved Domain (NCBI)CLN8
SuperfamilyQ9UBY8
AlphaFold pdb e-kbQ9UBY8   
Human Protein Atlas [tissue]ENSG00000182372-CLN8 [tissue]
HPRD06383
Protein Interaction databases
DIP (DOE-UCLA)Q9UBY8
IntAct (EBI)Q9UBY8
BioGRIDCLN8
STRING (EMBL)CLN8
ZODIACCLN8
Ontologies - Pathways
QuickGOQ9UBY8
Ontology : AmiGOage-dependent response to oxidative stress  protein binding  mitochondrion  endoplasmic reticulum  endoplasmic reticulum  endoplasmic reticulum membrane  endoplasmic reticulum-Golgi intermediate compartment  phospholipid metabolic process  phospholipid metabolic process  ceramide metabolic process  lipid transport  mitochondrial membrane organization  lysosome organization  nervous system development  nervous system development  visual perception  adult walking behavior  cholesterol metabolic process  associative learning  regulation of cell size  lipid biosynthetic process  integral component of membrane  somatic motor neuron differentiation  protein catabolic process  endoplasmic reticulum-Golgi intermediate compartment membrane  social behavior  negative regulation of apoptotic process  cellular protein catabolic process  photoreceptor cell maintenance  negative regulation of proteolysis  ceramide biosynthetic process  musculoskeletal movement  neuromuscular process controlling posture  neuromuscular process controlling balance  glutamate reuptake  lipid homeostasis  retina development in camera-type eye  neurofilament cytoskeleton organization  ceramide binding  ceramide binding  presynapse  
Ontology : EGO-EBIage-dependent response to oxidative stress  protein binding  mitochondrion  endoplasmic reticulum  endoplasmic reticulum  endoplasmic reticulum membrane  endoplasmic reticulum-Golgi intermediate compartment  phospholipid metabolic process  phospholipid metabolic process  ceramide metabolic process  lipid transport  mitochondrial membrane organization  lysosome organization  nervous system development  nervous system development  visual perception  adult walking behavior  cholesterol metabolic process  associative learning  regulation of cell size  lipid biosynthetic process  integral component of membrane  somatic motor neuron differentiation  protein catabolic process  endoplasmic reticulum-Golgi intermediate compartment membrane  social behavior  negative regulation of apoptotic process  cellular protein catabolic process  photoreceptor cell maintenance  negative regulation of proteolysis  ceramide biosynthetic process  musculoskeletal movement  neuromuscular process controlling posture  neuromuscular process controlling balance  glutamate reuptake  lipid homeostasis  retina development in camera-type eye  neurofilament cytoskeleton organization  ceramide binding  ceramide binding  presynapse  
NDEx NetworkCLN8
Atlas of Cancer Signalling NetworkCLN8
Wikipedia pathwaysCLN8
Orthology - Evolution
OrthoDB2055
GeneTree (enSembl)ENSG00000182372
Phylogenetic Trees/Animal Genes : TreeFamCLN8
Homologs : HomoloGeneCLN8
Homology/Alignments : Family Browser (UCSC)CLN8
Gene fusions - Rearrangements
Fusion : QuiverCLN8
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerCLN8 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)CLN8
dbVarCLN8
ClinVarCLN8
MonarchCLN8
1000_GenomesCLN8 
Exome Variant ServerCLN8
GNOMAD BrowserENSG00000182372
Varsome BrowserCLN8
ACMGCLN8 variants
VarityQ9UBY8
Genomic Variants (DGV)CLN8 [DGVbeta]
DECIPHERCLN8 [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisCLN8 
Mutations
ICGC Data PortalCLN8 
TCGA Data PortalCLN8 
Broad Tumor PortalCLN8
OASIS PortalCLN8 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICCLN8  [overview]  [genome browser]  [tissue]  [distribution]  
Somatic Mutations in Cancer : COSMIC3DCLN8
Mutations and Diseases : HGMDCLN8
LOVD (Leiden Open Variation Database)[gene] [transcripts] [variants]
BioMutaCLN8
DgiDB (Drug Gene Interaction Database)CLN8
DoCM (Curated mutations)CLN8
CIViC (Clinical Interpretations of Variants in Cancer)CLN8
Cancer3DCLN8
Impact of mutations[PolyPhen2] [Provean] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM600143    607837    610003   
Orphanet353    19111   
DisGeNETCLN8
MedgenCLN8
Genetic Testing Registry CLN8
NextProtQ9UBY8 [Medical]
GENETestsCLN8
Target ValidationCLN8
Huge Navigator CLN8 [HugePedia]
ClinGenCLN8
Clinical trials, drugs, therapy
MyCancerGenomeCLN8
Protein Interactions : CTDCLN8
Pharm GKB GenePA26606
PharosQ9UBY8
Clinical trialCLN8
Miscellaneous
canSAR (ICR)CLN8
HarmonizomeCLN8
DataMed IndexCLN8
Probes
Litterature
PubMed35 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
EVEXCLN8
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

Search in all EBI   NCBI

© Atlas of Genetics and Cytogenetics in Oncology and Haematology
indexed on : Mon Oct 4 15:04:24 CEST 2021

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