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ACTN3 (Gene)

Organism:

Homo sapiens

Taxonomy (Entity type)
Synonyms:ACTN3, ACTN3D, ENTREZ:89, HGNC:165, MIM:102574, NM_001104, NM_001258371, NP_001095, NP_001245300, NR_047663, actinin alpha 3
Omim:OMIM:102574
Id:ENSG00000248746
Hgnc:HGNC:165
Entrez:89
Ensembl:ENSG00000248746
Description:actinin alpha 3
This gene encodes a member of the alpha-actin binding protein gene family. The encoded protein is primarily expressed in skeletal muscle and functions as a structural component of sarcomeric Z line. This protein is involved in crosslinking actin containing thin filaments. An allelic polymorphism in this gene results in both coding and non-coding variants; the reference genome represents the coding allele. The non-functional allele of this gene is associated with elite athlete status. [provided by RefSeq, Feb 2014]

Analyze

Data Distillery
CFDE DD-Knowledge Graph

The CFDE Data Distillery Knowledge Graph contains entities and relationships across the CFDE. View ACTN3'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 ACTN3.

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 ACTN3.

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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 ACTN3.

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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 ACTN3.

Results found

Linked to

 

Label

Description

 

Gene Set

GSE195559 NOTCH1 knockout endothelial cell cardiac muscle cell stem cell 2 v 7 human up

Gene Set (Entity type)

A Gene Set from LINCS

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GSE153867 olaparib 6 v 4 human dn

Gene Set (Entity type)

A Gene Set from LINCS

Gene Set

GSE142210 4 V 7 PANOBINOSTAT HUMAN UP

Gene Set (Entity type)

A Gene Set from LINCS

Gene Set

GSE151612 0 V 2 PRACINOSTAT HUMAN UP

Gene Set (Entity type)

A Gene Set from LINCS

Gene Set

GSE157960 2 V 3 PROGESTERONE MOUSE UP

Gene Set (Entity type)

A Gene Set from LINCS

Gene Set

GSE208096 1 V 0 PROGESTERONE MOUSE DN

Gene Set (Entity type)

A Gene Set from LINCS

Gene Set

GSE165071,GSE165072 1 V 0 DEXAMETHASONE MOUSE UP

Gene Set (Entity type)

A Gene Set from LINCS

Gene Set

GSE161800 cisplatin A-549 0 v 2 human up

Gene Set (Entity type)

A Gene Set from LINCS

Gene Set

GSE153867 6 V 4 OLAPARIB HUMAN DN

Gene Set (Entity type)

A Gene Set from LINCS

Gene Set

GSE186226 KD knockdown T24 1 v 0 human dn

Gene Set (Entity type)

A Gene Set from LINCS

  • Gene Set

    GSE195559 NOTCH1 knockout endothelial cell cardiac muscle cell stem cell 2 v 7 human up

    Gene Set (Entity type)

    A Gene Set from LINCS

  • Gene Set

    GSE153867 olaparib 6 v 4 human dn

    Gene Set (Entity type)

    A Gene Set from LINCS

  • Gene Set

    GSE142210 4 V 7 PANOBINOSTAT HUMAN UP

    Gene Set (Entity type)

    A Gene Set from LINCS

  • Gene Set

    GSE151612 0 V 2 PRACINOSTAT HUMAN UP

    Gene Set (Entity type)

    A Gene Set from LINCS

  • Gene Set

    GSE157960 2 V 3 PROGESTERONE MOUSE UP

    Gene Set (Entity type)

    A Gene Set from LINCS

  • Gene Set

    GSE208096 1 V 0 PROGESTERONE MOUSE DN

    Gene Set (Entity type)

    A Gene Set from LINCS

  • Gene Set

    GSE165071,GSE165072 1 V 0 DEXAMETHASONE MOUSE UP

    Gene Set (Entity type)

    A Gene Set from LINCS

  • Gene Set

    GSE161800 cisplatin A-549 0 v 2 human up

    Gene Set (Entity type)

    A Gene Set from LINCS

  • Gene Set

    GSE153867 6 V 4 OLAPARIB HUMAN DN

    Gene Set (Entity type)

    A Gene Set from LINCS

  • Gene Set

    GSE186226 KD knockdown T24 1 v 0 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.