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CLN8 (Gene)

Organism:

Homo sapiens

Taxonomy (Entity type)
Synonyms:C8orf61, CLN8 transmembrane ER and ERGIC protein, CLN8, ENTREZ:2055, EPMR, HGNC:2079, MIM:607837, NM_001034061, NM_018941, NP_061764, TLCD6, XM_005266021, XM_005266022, XM_005266023, XM_011534745, XM_011534746, XM_011534747, XP_005266078, XP_005266079, XP_005266080, XP_011533047, XP_011533048, XP_011533049
Omim:OMIM:607837
Id:ENSG00000182372
Hgnc:HGNC:2079
Entrez:2055
Ensembl:ENSG00000182372
Description:CLN8 transmembrane ER and ERGIC protein
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]

Analyze

Data Distillery
CFDE DD-Knowledge Graph

The CFDE Data Distillery Knowledge Graph contains entities and relationships across the CFDE. View CLN8's neighborhood in the knowledge graph.

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Playbook Workflow Builder
Playbook Workflow Builder: Gene-Centric Workflow

View Gene-Centric information about the gene from a pre-built PWB workflow. View the workflow with CLN8.

Gene Partnership Appyter
CFDE Gene-Centric Appyter

The CFDE Gene Centric Appyter Resolves and Displays Gene-Centric information from CFDE APIs. Execute the Appyter using CLN8.

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Gene and Drug Landing Page Aggregator
GDLPA Landing Pages Links

The Gene and Drug Landing Page Aggregator (GDLPA) finds links to primary and secondary source information from CFDE and other resources. Discover landing pages for CLN8.

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Playbook Workflow Builder
Playbook Workflow Builder

The Playbook Workflow Builder helps you interactively construct workflows leveraging CFDE APIs without code. Start a new workflow with CLN8.

Results found

Linked to

 

Label

Description

 

Gene Set

GSE114492 GSE153671 KMT2D inhibition 6 v 8 human dn

Gene Set (Entity type)

A Gene Set from LINCS

Gene Set

GSE195663 cisplatin 7 v 1 human dn

Gene Set (Entity type)

A Gene Set from LINCS

Gene Set

GSE138789 metformin 0 v 1 human up

Gene Set (Entity type)

A Gene Set from LINCS

Gene Set

GSE239844 6 V 10 CRIZOTINIB HUMAN DN

Gene Set (Entity type)

A Gene Set from LINCS

Gene Set

GSE48812 sulforaphane 4 v 10 human dn

Gene Set (Entity type)

A Gene Set from LINCS

Gene Set

GSE205976 GSE205978 CEP83 knockout TIME 1 v 4 human dn

Gene Set (Entity type)

A Gene Set from LINCS

Gene Set

GSE187006 3 V 2 VALPROIC ACID HUMAN UP

Gene Set (Entity type)

A Gene Set from LINCS

Gene Set

GSE184210 0 V 1 GLUCAGON MOUSE UP

Gene Set (Entity type)

A Gene Set from LINCS

Gene Set

GSE130401 4 V 3 TRAMETINIB HUMAN DN

Gene Set (Entity type)

A Gene Set from LINCS

Gene Set

GSE111247 temozolomide LN-308 0 v 8 human up

Gene Set (Entity type)

A Gene Set from LINCS

  • Gene Set

    GSE114492 GSE153671 KMT2D inhibition 6 v 8 human dn

    Gene Set (Entity type)

    A Gene Set from LINCS

  • Gene Set

    GSE195663 cisplatin 7 v 1 human dn

    Gene Set (Entity type)

    A Gene Set from LINCS

  • Gene Set

    GSE138789 metformin 0 v 1 human up

    Gene Set (Entity type)

    A Gene Set from LINCS

  • Gene Set

    GSE239844 6 V 10 CRIZOTINIB HUMAN DN

    Gene Set (Entity type)

    A Gene Set from LINCS

  • Gene Set

    GSE48812 sulforaphane 4 v 10 human dn

    Gene Set (Entity type)

    A Gene Set from LINCS

  • Gene Set

    GSE205976 GSE205978 CEP83 knockout TIME 1 v 4 human dn

    Gene Set (Entity type)

    A Gene Set from LINCS

  • Gene Set

    GSE187006 3 V 2 VALPROIC ACID HUMAN UP

    Gene Set (Entity type)

    A Gene Set from LINCS

  • Gene Set

    GSE184210 0 V 1 GLUCAGON MOUSE UP

    Gene Set (Entity type)

    A Gene Set from LINCS

  • Gene Set

    GSE130401 4 V 3 TRAMETINIB HUMAN DN

    Gene Set (Entity type)

    A Gene Set from LINCS

  • Gene Set

    GSE111247 temozolomide LN-308 0 v 8 human up

    Gene Set (Entity type)

    A Gene Set from LINCS

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    The CFDE Workbench is actively being developed and maintained by the CFDE Data Resource Center (DRC).The DRC is funded by OT2OD036435 from the Common Fund at the National Institutes of Health.
    Consortium
    About the CFDECF ProgramsCFDE CentersPartnershipsPilot Projects
    Community
    Workbench TutorialTraining & OutreachDocumentationGet QR CodesFunding Opportunities
    Resources
    Data & MetadataToolsChatbotUse CasesPublications
    CFDE Workbench
    Report a bug
    The CFDE Workbench is actively being developed and maintained by the CFDE Data Resource Center (DRC).The DRC is funded by OT2OD036435 from the Common Fund at the National Institutes of Health.
    @CFDE Workbench 2026
    This repository is under review for potential modification in compliance with Administration directives.