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CFDE Workbench

GJA1 (Gene)

Organism:

Homo sapiens

Taxonomy (Entity type)
Synonyms:AVSD3, CMDR, CX43, EKVP, EKVP3, ENTREZ:2697, GJA1, GJAL, HGNC:4274, HLHS1, HSS, MIM:121014, NM_000165, NP_000156, ODDD, PPKCA, gap junction protein alpha 1
Omim:OMIM:121014
Id:ENSG00000152661
Hgnc:HGNC:4274
Entrez:2697
Ensembl:ENSG00000152661
Description:gap junction protein alpha 1
This gene is a member of the connexin gene family. The encoded protein is a component of gap junctions, which are composed of arrays of intercellular channels that provide a route for the diffusion of low molecular weight materials from cell to cell. The encoded protein is the major protein of gap junctions in the heart that are thought to have a crucial role in the synchronized contraction of the heart and in embryonic development. A related intronless pseudogene has been mapped to chromosome 5. Mutations in this gene have been associated with oculodentodigital dysplasia, autosomal recessive craniometaphyseal dysplasia and heart malformations. [provided by RefSeq, May 2014]

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Data Distillery
CFDE DD-Knowledge Graph

The CFDE Data Distillery Knowledge Graph contains entities and relationships across the CFDE. View GJA1'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 GJA1.

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 GJA1.

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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 GJA1.

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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 GJA1.

Results found

Linked to

 

Label

Description

 

Gene Set

GSE158834 ADIPOR2 knockout HEK293 7 v 3 human up

Gene Set (Entity type)

A Gene Set from LINCS

Gene Set

GSE163297 doxorubicin 0 v 2 human dn

Gene Set (Entity type)

A Gene Set from LINCS

Gene Set

GSE233647 docetaxel UFERSA-PC3 DU145 4 v 0 human dn

Gene Set (Entity type)

A Gene Set from LINCS

Gene Set

GSE151412 sorafenib 2 v 1 human up

Gene Set (Entity type)

A Gene Set from LINCS

Gene Set

GSE158834 7 V 3 PALMITIC ACID HUMAN UP

Gene Set (Entity type)

A Gene Set from LINCS

Gene Set

GSE179667 NVP-BEZ235 U-87MG Uppsala 0 v 1 human dn

Gene Set (Entity type)

A Gene Set from LINCS

Phenotype

Ataxia

Phenotype (Entity type)

Cerebellar ataxia refers to ataxia due to dysfunction of the cerebellum. This causes a variety of el...

Gene Set

GSE133933 fibulin-3 knockdown 2 v 1 human up

Gene Set (Entity type)

A Gene Set from LINCS

Gene Set

GSE119978 GSE180930 cisplatin 3 v 4 human dn

Gene Set (Entity type)

A Gene Set from LINCS

Gene Set

GSE118816 Myo1c knockdown podocyte 0 v 1 human dn

Gene Set (Entity type)

A Gene Set from LINCS

  • Gene Set

    GSE158834 ADIPOR2 knockout HEK293 7 v 3 human up

    Gene Set (Entity type)

    A Gene Set from LINCS

  • Gene Set

    GSE163297 doxorubicin 0 v 2 human dn

    Gene Set (Entity type)

    A Gene Set from LINCS

  • Gene Set

    GSE233647 docetaxel UFERSA-PC3 DU145 4 v 0 human dn

    Gene Set (Entity type)

    A Gene Set from LINCS

  • Gene Set

    GSE151412 sorafenib 2 v 1 human up

    Gene Set (Entity type)

    A Gene Set from LINCS

  • Gene Set

    GSE158834 7 V 3 PALMITIC ACID HUMAN UP

    Gene Set (Entity type)

    A Gene Set from LINCS

  • Gene Set

    GSE179667 NVP-BEZ235 U-87MG Uppsala 0 v 1 human dn

    Gene Set (Entity type)

    A Gene Set from LINCS

  • Phenotype

    Ataxia

    Phenotype (Entity type)

    Cerebellar ataxia refers to ataxia due to dysfunction of the cerebellum. This causes a variety of el...

  • Gene Set

    GSE133933 fibulin-3 knockdown 2 v 1 human up

    Gene Set (Entity type)

    A Gene Set from LINCS

  • Gene Set

    GSE119978 GSE180930 cisplatin 3 v 4 human dn

    Gene Set (Entity type)

    A Gene Set from LINCS

  • Gene Set

    GSE118816 Myo1c knockdown podocyte 0 v 1 human dn

    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.