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PMP22 (Gene)

Organism:

Homo sapiens

Taxonomy (Entity type)
Synonyms:CIDP, CMT1A, CMT1E, DSS, ENTREZ:5376, GAS-3, GAS3, HGNC:9118, HMSNIA, HNPP, MIM:601097, NM_000304, NM_001281455, NM_001281456, NM_001330143, NM_153321, NM_153322, NP_000295, NP_001268384, NP_001268385, NP_001317072, NP_696996, NP_696997, NR_104017, NR_104018, PMP22, Sp110, XM_024450806, XP_024306574, peripheral myelin protein 22
Omim:OMIM:601097
Id:ENSG00000109099
Hgnc:HGNC:9118
Entrez:5376
Ensembl:ENSG00000109099
Description:peripheral myelin protein 22
This gene encodes an integral membrane protein that is a major component of myelin in the peripheral nervous system. Studies suggest two alternately used promoters drive tissue-specific expression. Various mutations of this gene are causes of Charcot-Marie-Tooth disease Type IA, Dejerine-Sottas syndrome, and hereditary neuropathy with liability to pressure palsies. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2013]

Analyze

Data Distillery
CFDE DD-Knowledge Graph

The CFDE Data Distillery Knowledge Graph contains entities and relationships across the CFDE. View PMP22'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 PMP22.

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 PMP22.

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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 PMP22.

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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 PMP22.

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

GSE168473 0 V 1 ISONIAZID HUMAN UP

Gene Set (Entity type)

A Gene Set from LINCS

Gene Set

GSE158834 ADIPOR2 knockout HEK293 1 v 6 human dn

Gene Set (Entity type)

A Gene Set from LINCS

Gene Set

GSE213588 trametinib NF1 8 v 11 human up

Gene Set (Entity type)

A Gene Set from LINCS

Gene Set

GSE110178 2 V 3 TRANYLCYPROMINE MOUSE DN

Gene Set (Entity type)

A Gene Set from LINCS

Gene Set

GSE158834 0 V 3 PALMITIC ACID HUMAN UP

Gene Set (Entity type)

A Gene Set from LINCS

Gene Set

GSE229973 3 V 2 CISPLATIN HUMAN DN

Gene Set (Entity type)

A Gene Set from LINCS

Gene Set

GSE226249 pirfenidone HL 0 v 7 human dn

Gene Set (Entity type)

A Gene Set from LINCS

Gene Set

GSE216273 GSE216292 palbociclib 14 v 1 human dn

Gene Set (Entity type)

A Gene Set from LINCS

Gene Set

GSE226285 3 V 0 GLUTATHIONE 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

    GSE168473 0 V 1 ISONIAZID HUMAN UP

    Gene Set (Entity type)

    A Gene Set from LINCS

  • Gene Set

    GSE158834 ADIPOR2 knockout HEK293 1 v 6 human dn

    Gene Set (Entity type)

    A Gene Set from LINCS

  • Gene Set

    GSE213588 trametinib NF1 8 v 11 human up

    Gene Set (Entity type)

    A Gene Set from LINCS

  • Gene Set

    GSE110178 2 V 3 TRANYLCYPROMINE MOUSE DN

    Gene Set (Entity type)

    A Gene Set from LINCS

  • Gene Set

    GSE158834 0 V 3 PALMITIC ACID HUMAN UP

    Gene Set (Entity type)

    A Gene Set from LINCS

  • Gene Set

    GSE229973 3 V 2 CISPLATIN HUMAN DN

    Gene Set (Entity type)

    A Gene Set from LINCS

  • Gene Set

    GSE226249 pirfenidone HL 0 v 7 human dn

    Gene Set (Entity type)

    A Gene Set from LINCS

  • Gene Set

    GSE216273 GSE216292 palbociclib 14 v 1 human dn

    Gene Set (Entity type)

    A Gene Set from LINCS

  • Gene Set

    GSE226285 3 V 0 GLUTATHIONE HUMAN UP

    Gene Set (Entity type)

    A Gene Set from LINCS

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    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.