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GJB1 (Gene)

Organism:

Homo sapiens

Taxonomy (Entity type)
Synonyms:CMTX, CMTX1, CX32, ENTREZ:2705, GJB1, HGNC:4283, MIM:304040, NM_000166, NM_001097642, NP_000157, NP_001091111, XM_011530907, XP_011529209, gap junction protein beta 1
Id:ENSG00000169562
Entrez:2705
Ensembl:ENSG00000169562
Description:gap junction protein beta 1
This gene encodes a member of the gap junction protein family. The gap junction proteins are membrane-spanning proteins that assemble to form gap junction channels that facilitate the transfer of ions and small molecules between cells. According to sequence similarities at the nucleotide and amino acid levels, the gap junction proteins are divided into two categories, alpha and beta. Mutations in this gene cause X-linked Charcot-Marie-Tooth disease, an inherited peripheral neuropathy. Alternatively spliced transcript variants encoding the same protein have been found for this gene. [provided by RefSeq, Oct 2008]

Analyze

Data Distillery
CFDE DD-Knowledge Graph

The CFDE Data Distillery Knowledge Graph contains entities and relationships across the CFDE. View GJB1'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 GJB1.

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 GJB1.

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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 GJB1.

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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 GJB1.

Results found

Linked to

 

Label

Description

 

Gene Set

GSE102505 5 V 0 TUNICAMYCIN HUMAN DN

Gene Set (Entity type)

A Gene Set from LINCS

Gene Set

GSE208634 1 V 2 DOXYCYCLINE HUMAN DN

Gene Set (Entity type)

A Gene Set from LINCS

Gene Set

GSE101239 5 V 6 VALPROIC ACID MOUSE UP

Gene Set (Entity type)

A Gene Set from LINCS

Gene Set

GSE265788 IDH1 inhibition RNA-Directed DNA Polymerase 7 v 5 human dn

Gene Set (Entity type)

A Gene Set from LINCS

Gene Set

GSE168745 H-7 JHH-7 0 v 1 human dn

Gene Set (Entity type)

A Gene Set from LINCS

Gene Set

GSE239844 11 V 9 CRIZOTINIB HUMAN UP

Gene Set (Entity type)

A Gene Set from LINCS

Gene Set

GSE111247 temozolomide LN-308 14 v 12 human dn

Gene Set (Entity type)

A Gene Set from LINCS

Gene Set

GSE158632 3 V 4 OXYQUINOLINE HUMAN UP

Gene Set (Entity type)

A Gene Set from LINCS

Gene Set

GSE173116 GSE173118 ML-7 3 v 5 human up

Gene Set (Entity type)

A Gene Set from LINCS

Gene Set

GSE213588 trametinib NF1 8 v 11 human dn

Gene Set (Entity type)

A Gene Set from LINCS

  • Gene Set

    GSE102505 5 V 0 TUNICAMYCIN HUMAN DN

    Gene Set (Entity type)

    A Gene Set from LINCS

  • Gene Set

    GSE208634 1 V 2 DOXYCYCLINE HUMAN DN

    Gene Set (Entity type)

    A Gene Set from LINCS

  • Gene Set

    GSE101239 5 V 6 VALPROIC ACID MOUSE UP

    Gene Set (Entity type)

    A Gene Set from LINCS

  • Gene Set

    GSE265788 IDH1 inhibition RNA-Directed DNA Polymerase 7 v 5 human dn

    Gene Set (Entity type)

    A Gene Set from LINCS

  • Gene Set

    GSE168745 H-7 JHH-7 0 v 1 human dn

    Gene Set (Entity type)

    A Gene Set from LINCS

  • Gene Set

    GSE239844 11 V 9 CRIZOTINIB HUMAN UP

    Gene Set (Entity type)

    A Gene Set from LINCS

  • Gene Set

    GSE111247 temozolomide LN-308 14 v 12 human dn

    Gene Set (Entity type)

    A Gene Set from LINCS

  • Gene Set

    GSE158632 3 V 4 OXYQUINOLINE HUMAN UP

    Gene Set (Entity type)

    A Gene Set from LINCS

  • Gene Set

    GSE173116 GSE173118 ML-7 3 v 5 human up

    Gene Set (Entity type)

    A Gene Set from LINCS

  • Gene Set

    GSE213588 trametinib NF1 8 v 11 human dn

    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.