CLN8 (CLN8 transmembrane ER and ERGIC protein)

2016-10-01 Affiliation

Identity

HGNC

CLN8

LOCATION

8p23.3

LOCUSID

2055

ALIAS

C8orf61,EPMR,TLCD6

FUSION GENES

Show Gene Fusions

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

Gene ID	Transcript ID	Uniprot
ENSG00000182372	ENST00000331222	Q9UBY8
ENSG00000182372	ENST00000331222	A0A024QZ57
ENSG00000182372	ENST00000519254	Q9UBY8
ENSG00000182372	ENST00000519254	A0A024QZ57
ENSG00000182372	ENST00000520991	A0A0J9YWD2
ENSG00000182372	ENST00000524258	A0A0J9YYK8
ENSG00000182372	ENST00000635751	Q9UBY8
ENSG00000182372	ENST00000635751	A0A024QZ57
ENSG00000182372	ENST00000635970	Q9UBY8
ENSG00000182372	ENST00000635970	A0A024QZ57
ENSG00000182372	ENST00000636934	A0A1B0GUR8
ENSG00000182372	ENST00000637083	Q9UBY8
ENSG00000182372	ENST00000637083	A0A024QZ57
ENSG00000182372	ENST00000637156	Q9UBY8
ENSG00000182372	ENST00000637156	A0A024QZ57
ENSG00000182372	ENST00000637594	A0A1B0GU79

Expression (GTEx)

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 ID	Year	Title	Citations
19201763	2009	Mutations in CLN7/MFSD8 are a common cause of variant late-infantile neuronal ceroid lipofuscinosis.	24
19431184	2009	A novel CLN8 mutation in late-infantile-onset neuronal ceroid lipofuscinosis (LINCL) reveals aspects of CLN8 neurobiological function.	15
22388998	2012	Genome-wide association study of N370S homozygous Gaucher disease reveals the candidacy of CLN8 gene as a genetic modifier contributing to extreme phenotypic variation.	15
23160995	2012	CLN5 and CLN8 protein association with ceramide synthase: biochemical and proteomic approaches.	14
30397314	2018	CLN8 is an endoplasmic reticulum cargo receptor that regulates lysosome biogenesis.	12
19807737	2010	Novel CLN8 mutations confirm the clinical and ethnic diversity of late infantile neuronal ceroid lipofuscinosis.	7
17129765	2007	Clinical and electrophysiological features of epilepsy in Italian patients with CLN8 mutations.	5
22964447	2012	Phenotypic heterogeneity in consanguineous patients with a common CLN8 mutation.	3
26443629	2016	Novel missense mutation in CLN8 in late infantile neuronal ceroid lipofuscinosis: The first report of a CLN8 mutation in Japan.	2
26657971	2015	Resequencing and Association Analysis of CLN8 with Autism Spectrum Disorder in a Japanese Population.	2

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/cln8-(cln8-transmembrane-er-and-ergic-protein)