CLN5 (CLN5 intracellular trafficking protein)

2014-08-01  

Identity

HGNC
CLN5
LOCATION
13q22.3
LOCUSID
1203
ALIAS
-
FUSION GENES
Show Gene Fusions

Other Information

Locus ID:

NCBI: 1203
MIM: 608102
HGNC: 2076
Ensembl: ENSG00000102805

Variants:

dbSNP: 1203
ClinVar: 1203
TCGA: ENSG00000102805
COSMIC: CLN5

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000102805ENST00000377453O75503
ENSG00000102805ENST00000485938A0A087WZY0
ENSG00000102805ENST00000616833A0A1C7CYZ2
ENSG00000102805ENST00000635915A0A1B0GVL0
ENSG00000102805ENST00000636183O75503
ENSG00000102805ENST00000636525A0A1B0GUE8
ENSG00000102805ENST00000636681A0A1B0GU14
ENSG00000102805ENST00000636705A0A1B0GWI2
ENSG00000102805ENST00000636767A0A1B0GTV7
ENSG00000102805ENST00000636780A0A1B0GTR6
ENSG00000102805ENST00000637397A0A1B0GV94
ENSG00000102805ENST00000637537A0A1B0GTR6

Expression (GTEx)

0
5
10
15
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

Pathways

PathwaySourceExternal ID
LysosomeKEGGko04142
LysosomeKEGGhsa04142

Protein levels (Protein atlas)

Not detected
Low
Medium
High
cerebral cortex
cerebellum
hippocampus
caudate
thyroid gland
parathyroid gland
adrenal gland
nasopharynx
bronchus
lung
oral mucosa
salivary gland
esophagus
stomach 1
stomach 2
duodenum
small intestine
colon
rectum
liver
gallbladder
pancreas
kidney
urinary bladder
testis
epididymis
seminal vesicle
prostate
vagina
ovary
fallopian tube
endometrium 1
endometrium 2
cervix, uterine
placenta
breast
heart muscle
smooth muscle
skeletal muscle
soft tissue 1
adipose tissue
skin 1
skin 2
appendix
spleen
lymph node
tonsil
bone marrow

References

Pubmed IDYearTitleCitations
191745162009VEGF-mediated disruption of endothelial CLN-5 promotes blood-brain barrier breakdown.165
121340792002Neuronal ceroid lipofuscinoses are connected at molecular level: interaction of CLN5 protein with CLN2 and CLN3.24
192017632009Mutations in CLN7/MFSD8 are a common cause of variant late-infantile neuronal ceroid lipofuscinosis.24
199416512009Novel interactions of CLN5 support molecular networking between Neuronal Ceroid Lipofuscinosis proteins.23
119718702002Lysosomal localization of the neuronal ceroid lipofuscinosis CLN5 protein.20
224315212012The role of ceroid lipofuscinosis neuronal protein 5 (CLN5) in endosomal sorting.18
201571582010CLN5 mutations are frequent in juvenile and late-onset non-Finnish patients with NCL.15
201571582010CLN5 mutations are frequent in juvenile and late-onset non-Finnish patients with NCL.15
193096912009Retention of lysosomal protein CLN5 in the endoplasmic reticulum causes neuronal ceroid lipofuscinosis in Asian sibship.14
231609952012CLN5 and CLN8 protein association with ceramide synthase: biochemical and proteomic approaches.14

Citation

Dessen P

CLN5 (CLN5 intracellular trafficking protein)

Atlas Genet Cytogenet Oncol Haematol. 2014-08-01

Online version: http://atlasgeneticsoncology.org/gene/54219/cln5