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Tbio
CLN8
Protein CLN8

Protein Summary
Description
Could play a role in cell proliferation during neuronal differentiation and in protection against cell death. This gene encodes a transmembrane protein belonging to a family of proteins containing TLC domains, which are postulated to function in lipid synthesis, transport, or sensing. The protein localizes to the endoplasmic reticulum (ER), and may recycle between the ER and ER-Golgi intermediate compartment. Mutations in this gene are associated with a disorder characterized by progressive epilepsy with cognitive disabilities (EPMR), which is a subtype of neuronal ceroid lipofuscinoses (NCL). Patients with mutations in this gene have altered levels of sphingolipid and phospholipids in the brain. [provided by RefSeq, Jul 2017]
Uniprot Accession IDs
Gene Name
Ensembl ID
  • ENST00000331222
  • ENSP00000328182
  • ENSG00000182372
  • ENST00000519254
  • ENSP00000490016
  • ENST00000619400
  • ENSP00000482713
  • ENSG00000278220
  • ENST00000635751
  • ENSP00000489694
  • ENST00000635970
  • ENSP00000490439
  • ENST00000637083
  • ENSP00000490235
  • ENST00000637156
  • ENSP00000490458

Symbol
  • C8orf61
  • EPMR
  • C8orf61
Illumination Graph
Knowledge Table
Most Knowledge About
Knowledge Value (0 to 1 scale)
biological process
0.96
transcription factor perturbation
0.94
disease perturbation
0.9
virus perturbation
0.9
kinase perturbation
0.71


Protein Classes
No PANTHER Classes or DTO Classes found
IDG Development Level Summary
Tdark

These are targets about which virtually nothing is known. They do not have known drug or small molecule activities
- AND - satisfy two or more of the following criteria:

Pubmed score: 63.47   (req: < 5)
Gene RIFs: 16   (req: <= 3)
Antibodies: 115   (req: <= 50)
Tbio

These targets do not have known drug or small molecule activities
- AND - satisfy two or more of the following criteria:

Pubmed score: 63.47   (req: >= 5)
Gene RIFs: 16   (req: > 3)
Antibodies: 115   (req: > 50)

- OR - satisfy the following criterion:

Gene Ontology Terms: 27
Tchem

Target has at least one ChEMBL compound with an activity cutoff of < 30 nM - AND - satisfies the preceding conditions

Active Ligand: 0
Tclin

Target has at least one approved drug - AND - satisfies the preceding conditions

Active Drug: 0