Identity
HGNC
LOCATION
8p23.3
LOCUSID
ALIAS
C8orf61,EPMR,TLCD6
FUSION GENES
Non-annotated gene. Preliminary data : if you are an author who wish to write a full paper/card on this gene, contribute in submission tool
Other Information
Locus ID:
NCBI: 2055
MIM: 607837
HGNC: 2079
Ensembl: ENSG00000182372
Variants:
dbSNP: 2055
ClinVar: 2055
TCGA: ENSG00000182372
COSMIC: CLN8
RNA/Proteins
Expression (GTEx)
References
| Pubmed ID | Year | Title | Citations |
|---|---|---|---|
| 34044364 | 2021 | miR-3074-5p/CLN8 pathway regulates decidualization in recurrent miscarriage. | 3 |
| 34201538 | 2021 | CLN8 Mutations Presenting with a Phenotypic Continuum of Neuronal Ceroid Lipofuscinosis-Literature Review and Case Report. | 3 |
| 34044364 | 2021 | miR-3074-5p/CLN8 pathway regulates decidualization in recurrent miscarriage. | 3 |
| 34201538 | 2021 | CLN8 Mutations Presenting with a Phenotypic Continuum of Neuronal Ceroid Lipofuscinosis-Literature Review and Case Report. | 3 |
| 32597833 | 2020 | A CLN6-CLN8 complex recruits lysosomal enzymes at the ER for Golgi transfer. | 25 |
| 32597833 | 2020 | A CLN6-CLN8 complex recruits lysosomal enzymes at the ER for Golgi transfer. | 25 |
| 30453012 | 2019 | Neuronal ceroid lipofuscinosis related ER membrane protein CLN8 regulates PP2A activity and ceramide levels. | 4 |
| 30919163 | 2019 | The Neuronal Ceroid Lipofuscinoses-Linked Loss of Function CLN5 and CLN8 Variants Disrupt Normal Lysosomal Function. | 3 |
| 30453012 | 2019 | Neuronal ceroid lipofuscinosis related ER membrane protein CLN8 regulates PP2A activity and ceramide levels. | 4 |
| 30919163 | 2019 | The Neuronal Ceroid Lipofuscinoses-Linked Loss of Function CLN5 and CLN8 Variants Disrupt Normal Lysosomal Function. | 3 |
| 30397314 | 2018 | CLN8 is an endoplasmic reticulum cargo receptor that regulates lysosome biogenesis. | 50 |
| 30397314 | 2018 | CLN8 is an endoplasmic reticulum cargo receptor that regulates lysosome biogenesis. | 50 |
| 27844444 | 2017 | Exome sequencing identifies a novel homozygous CLN8 mutation in a Turkish family with Northern epilepsy. | 4 |
| 27844444 | 2017 | Exome sequencing identifies a novel homozygous CLN8 mutation in a Turkish family with Northern epilepsy. | 4 |
| 26443629 | 2016 | Novel missense mutation in CLN8 in late infantile neuronal ceroid lipofuscinosis: The first report of a CLN8 mutation in Japan. | 4 |
Citation
Dessen P
CLN8 (CLN8 transmembrane ER and ERGIC protein)
Atlas Genet Cytogenet Oncol Haematol. 2016-10-01
Online version: http://atlasgeneticsoncology.org/gene/56339/
