Property Summary

NCBI Gene PubMed Count 33
PubMed Score 57.92
PubTator Score 66.02

Knowledge Summary


No data available


  Disease Sources (5)

Disease Target Count
Ceroid lipofuscinosis, neuronal, 5 1
Disease Target Count P-value
posterior fossa group B ependymoma 1530 2.58481775307846E-9
pilocytic astrocytoma 3086 9.18266560584228E-9
psoriasis 6685 1.61759456062773E-7
Breast cancer 3099 2.93223327895064E-7
ovarian cancer 8492 7.00921870069399E-7
Pick disease 1893 2.97613813541153E-5
osteosarcoma 7933 4.9413075401181E-5
tuberculosis and treatment for 6 months 686 6.96760968233827E-5
medulloblastoma, large-cell 6234 9.06203967652555E-5
hepatocellular carcinoma 550 1.00850995999556E-4
invasive ductal carcinoma 2950 0.0027541012593704
pancreatic cancer 2300 0.00440969336484594
pancreatic carcinoma 567 0.00440969336484596
lung cancer 4473 0.00550828044975832
ulcerative colitis 2087 0.00603663973415676
glioblastoma 5572 0.0123455197674189
intraductal papillary-mucinous adenoma (IPMA) 2956 0.015318170667941
Disease Target Count Z-score Confidence
Blindness 84 3.552 1.8
Visual pathway disease 6 3.354 1.7
Disease Target Count
neuronal ceroid lipofuscinosis 5 2


  Differential Expression (17)

Disease log2 FC p
hepatocellular carcinoma 1.300 0.000
pancreatic cancer 1.200 0.004
psoriasis -1.300 0.000
osteosarcoma -1.894 0.000
posterior fossa group B ependymoma 1.800 0.000
glioblastoma 1.400 0.012
medulloblastoma, large-cell -1.200 0.000
tuberculosis and treatment for 6 months -1.300 0.000
intraductal papillary-mucinous adenoma (... 1.100 0.015
lung cancer -1.400 0.006
pilocytic astrocytoma 1.300 0.000
pancreatic carcinoma 1.200 0.004
Pick disease 1.400 0.000
Breast cancer -1.100 0.000
invasive ductal carcinoma -1.400 0.003
ulcerative colitis -1.100 0.006
ovarian cancer -2.200 0.000


Accession O75503 B3KQK7 Protein CLN5
Symbols NCL


  Ortholog (10)

Species Source
Chimp OMA EggNOG
Mouse OMA EggNOG Inparanoid
Dog OMA EggNOG Inparanoid
Horse OMA EggNOG Inparanoid
Cow OMA EggNOG Inparanoid
Opossum OMA EggNOG Inparanoid
Chicken OMA EggNOG
Anole lizard OMA EggNOG Inparanoid
Xenopus OMA EggNOG Inparanoid
Zebrafish OMA Inparanoid

 GO Function (1)

Gene RIF (18)

26342652 Two forms of CLN5, derived from the C-terminal proteolytic processing, are present in most cells and tissues.
25359263 findings support CLN5 hypomorphic mutations cause autosomal recessive cerebellar ataxia, confirming other reports showing CLN mutations are associated with adult-onset neurodegenerative disorders
24058541 There are functional differences in various N-glycosylation sites of CLN5 which affect folding, trafficking, and lysosomal function of CLN5.
23160995 This study highlights a close interaction between CLN5/CLN8 proteins, and their role in sphingolipid metabolism. Our findings suggest that CLN5p/CLN8p most likely are positive modulators of CerS1 and/or CerS2.
22431521 a role for CLN5 in controlling the itinerary of the lysosomal sorting receptors by regulating retromer recruitment at the endosome
20157158 CLN5 mutations are 1) more common in patients with neuronal ceroid lipofuscinosis (NCL) than previously reported, 2) found in patients of broad ethnic diversity, and 3) can be identified in patients with disease onset in adult and juvenile epochs
20157158 Observational study of gene-disease association. (HuGE Navigator)
20052765 analysis of mutations in neuronal ceroid lipofuscinosis protein CLN5
19941651 Study found that CLN5 interacts with several other NCL proteins namely, CLN1/PPT1, CLN2/TPP1, CLN3, CLN6 and CLN8.
19309691 Double immunofluorescence microscopy showed that while the wild-type CLN5 protein is localized in lysosomes, both mutant CLN5 proteins are retained in the endoplasmic reticulum rather than reaching the lysosome.

AA Sequence

RNKTLSGL                                                                  351 - 358

Text Mined References (34)

PMID Year Title
26342652 2015 Proteolytic processing of the neuronal ceroid lipofuscinosis related lysosomal protein CLN5.
25359263 2015 Adult-onset autosomal recessive ataxia associated with neuronal ceroid lipofuscinosis type 5 gene (CLN5) mutations.
25158072 2015 Cross-disorder genome-wide analyses suggest a complex genetic relationship between Tourette's syndrome and OCD.
24058541 2013 The role of N-glycosylation in folding, trafficking, and functionality of lysosomal protein CLN5.
24038957 2013 Topology and membrane anchoring of the lysosomal storage disease-related protein CLN5.
23533145 2013 In-depth proteomic analyses of exosomes isolated from expressed prostatic secretions in urine.
23160995 2012 CLN5 and CLN8 protein association with ceramide synthase: biochemical and proteomic approaches.
22431521 2012 The role of ceroid lipofuscinosis neuronal protein 5 (CLN5) in endosomal sorting.
21990111 2012 Update of the mutation spectrum and clinical correlations of over 360 mutations in eight genes that underlie the neuronal ceroid lipofuscinoses.
20157158 2010 CLN5 mutations are frequent in juvenile and late-onset non-Finnish patients with NCL.