Property Summary

NCBI Gene PubMed Count 24
Grant Count 5
R01 Count 2
Funding $139,824.87
PubMed Score 62.04
PubTator Score 32.39

Knowledge Summary

Patent

No data available

Expression

  Differential Expression (12)

Disease log2 FC p
malignant mesothelioma 2.900 0.000
psoriasis -2.200 0.000
osteosarcoma 1.729 0.000
medulloblastoma, large-cell -1.100 0.000
tuberculosis -1.900 0.000
lung cancer -1.100 0.012
active ulcerative colitis -1.003 0.006
cystic fibrosis -1.300 0.001
group 4 medulloblastoma -1.400 0.001
Pick disease 1.400 0.000
invasive ductal carcinoma -1.200 0.019
chronic rhinosinusitis -1.188 0.032

Synonym

Accession Q9UBY8 Q86U71 Q96I95
Symbols EPMR
C8orf61

Gene

Gene RIF (8)

PMID Text
26657971 This study does not support a contribution of rare missense CLN8 variations to ASD susceptibility in the Japanese population.
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.
22964447 A missense mutation at the CLN8 gene (763C>G)has been identified in 3 consanguineous Israeli-Arab patients. The phenotype in 2 of them is milder than that of their cousin who has typical neuronal ceroid lipofuscinosis.
22388998 CLN8 is a candidate modifier gene for GD1. Increased expression may protect against severe GD1.It may function as a protective sphingolipid sensor and/or in glycosphingolipid trafficking.
19807737 a novel, large CLN8 gene deletion c.544-2566_590del2613 in a Turkish family with a slightly more severe phenotype of neuronal ceroid lipofuscinose was described.
19431184 CLN8 plays a role in cell proliferation during neuronal differentiation and in protection against cell death.
19201763 Observational study of gene-disease association. (HuGE Navigator)
17129765 patients with CLN8 mutations from Italy. In these patients, the onset of epilepsy occurred between 3 and 6 years of age, with myoclonic, tonic-clonic, and atypical absence seizures. Electroencephalograms revealed focal and/or generalized abnormalities.

AA Sequence

MNPASDGGTSESIFDLDYASWGIRSTLMVAGFVFYLGVFVVCHQLSSSLNATYRSLVAREKVFWDLAATR      1 - 70
AVFGVQSTAAGLWALLGDPVLHADKARGQQNWCWFHITTATGFFCFENVAVHLSNLIFRTFDLFLVIHHL     71 - 140
FAFLGFLGCLVNLQAGHYLAMTTLLLEMSTPFTCVSWMLLKAGWSESLFWKLNQWLMIHMFHCRMVLTYH    141 - 210
MWWVCFWHWDGLVSSLYLPHLTLFLVGLALLTLIINPYWTHKKTQQLLNPVDWNFAQPEAKSRPEGNGQL    211 - 280
LRKKRP                                                                    281 - 286
//

Text Mined References (25)

PMID Year Title
26657971 2015 Resequencing and Association Analysis of CLN8 with Autism Spectrum Disorder in a Japanese Population.
26443629 2016 Novel missense mutation in CLN8 in late infantile neuronal ceroid lipofuscinosis: The first report of a CLN8 mutation in Japan.
23160995 2012 CLN5 and CLN8 protein association with ceramide synthase: biochemical and proteomic approaches.
22964447 2012 Phenotypic heterogeneity in consanguineous patients with a common CLN8 mutation.
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.
21990111 2012 Update of the mutation spectrum and clinical correlations of over 360 mutations in eight genes that underlie the neuronal ceroid lipofuscinoses.
19941651 2009 Novel interactions of CLN5 support molecular networking between Neuronal Ceroid Lipofuscinosis proteins.
19807737 2010 Novel CLN8 mutations confirm the clinical and ethnic diversity of late infantile neuronal ceroid lipofuscinosis.
19431184 2009 A novel CLN8 mutation in late-infantile-onset neuronal ceroid lipofuscinosis (LINCL) reveals aspects of CLN8 neurobiological function.
19201763 2009 Mutations in CLN7/MFSD8 are a common cause of variant late-infantile neuronal ceroid lipofuscinosis.
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