CLN8 (CLN8 transmembrane ER and ERGIC protein)

2016-10-01  

Identity

HGNC
CLN8
LOCATION
8p23.3
LOCUSID
2055
ALIAS
C8orf61,EPMR,TLCD6
FUSION GENES
Show Gene Fusions

Other Information

Locus ID:

NCBI: 2055
MIM: 607837
HGNC: 2079
Ensembl: ENSG00000182372

Variants:

dbSNP: 2055
ClinVar: 2055
TCGA: ENSG00000182372
COSMIC: CLN8

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000182372ENST00000331222Q9UBY8
ENSG00000182372ENST00000331222A0A024QZ57
ENSG00000182372ENST00000519254Q9UBY8
ENSG00000182372ENST00000519254A0A024QZ57
ENSG00000182372ENST00000520991A0A0J9YWD2
ENSG00000182372ENST00000524258A0A0J9YYK8
ENSG00000182372ENST00000635751Q9UBY8
ENSG00000182372ENST00000635751A0A024QZ57
ENSG00000182372ENST00000635970Q9UBY8
ENSG00000182372ENST00000635970A0A024QZ57
ENSG00000182372ENST00000636934A0A1B0GUR8
ENSG00000182372ENST00000637083Q9UBY8
ENSG00000182372ENST00000637083A0A024QZ57
ENSG00000182372ENST00000637156Q9UBY8
ENSG00000182372ENST00000637156A0A024QZ57
ENSG00000182372ENST00000637594A0A1B0GU79

Expression (GTEx)

0
5
10
15
20
25
Adipose - Subcutaneous
Adipose - Visceral
Adrenal Gland
Artery - Aorta
Artery - Tibial
Bladder
Brain - Amygdala
Brain - Anterior cingulate cortex
Brain - Caudate
Brain - Cerebellar Hemisphere
Brain - Cerebellum
Brain - Cortex
Brain - Frontal Cortex
Brain - Hippocampus
Brain - Hypothalamus
Brain - Nucleus accumbens
Brain - Putamen
Brain - Spinal cord
Brain - Substantia nigra
Breast - Mammary Tissue
Cells - Cultured fibroblasts
Cells - EBV - transformed lymphocytes
Cervix - Ectocervix
Cervix - Endocervix
Colon - Sigmoid
Colon - Transverse
Esophagus - Gastroesophageal Junction
Esophagus - Mucosa
Esophagus - Muscularis
Fallopian Tube
Heart - Atrial Appendage
Heart - Left Ventricle
Kidney - Cortex
Kidney - Medulla
Liver
Lung
Minor Salivary Gland
Muscle - Skeletal
Nerve - Tibial
Ovary
Pancreas
Pituitary
Prostate
Skin - Not Sun Exposed
Skin - Sun Exposed
Small Intestine - Terminal Ileum
Spleen
Stomach
Testis
Thyroid
Uterus
Vagina
Whole Blood

References

Pubmed IDYearTitleCitations
340443642021miR-3074-5p/CLN8 pathway regulates decidualization in recurrent miscarriage.3
342015382021CLN8 Mutations Presenting with a Phenotypic Continuum of Neuronal Ceroid Lipofuscinosis-Literature Review and Case Report.3
340443642021miR-3074-5p/CLN8 pathway regulates decidualization in recurrent miscarriage.3
342015382021CLN8 Mutations Presenting with a Phenotypic Continuum of Neuronal Ceroid Lipofuscinosis-Literature Review and Case Report.3
325978332020A CLN6-CLN8 complex recruits lysosomal enzymes at the ER for Golgi transfer.25
325978332020A CLN6-CLN8 complex recruits lysosomal enzymes at the ER for Golgi transfer.25
304530122019Neuronal ceroid lipofuscinosis related ER membrane protein CLN8 regulates PP2A activity and ceramide levels.4
309191632019The Neuronal Ceroid Lipofuscinoses-Linked Loss of Function CLN5 and CLN8 Variants Disrupt Normal Lysosomal Function.3
304530122019Neuronal ceroid lipofuscinosis related ER membrane protein CLN8 regulates PP2A activity and ceramide levels.4
309191632019The Neuronal Ceroid Lipofuscinoses-Linked Loss of Function CLN5 and CLN8 Variants Disrupt Normal Lysosomal Function.3
303973142018CLN8 is an endoplasmic reticulum cargo receptor that regulates lysosome biogenesis.50
303973142018CLN8 is an endoplasmic reticulum cargo receptor that regulates lysosome biogenesis.50
278444442017Exome sequencing identifies a novel homozygous CLN8 mutation in a Turkish family with Northern epilepsy.4
278444442017Exome sequencing identifies a novel homozygous CLN8 mutation in a Turkish family with Northern epilepsy.4
264436292016Novel 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/favicon/img/favicon/manifest.json