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APPL2 (Gene)

Organism:

Homo sapiens

Taxonomy (Entity type)
Synonyms:APPL2, DIP13B, ENTREZ:55198, HGNC:18242, MIM:606231, NM_001251904, NM_001251905, NM_018171, NP_001238833, NP_001238834, NP_060641, XM_006719472, XM_011538530, XM_011538531, XM_011538532, XM_017019551, XM_017019552, XM_017019553, XM_017019554, XP_006719535, XP_011536832, XP_011536833, XP_011536834, XP_016875040, XP_016875041, XP_016875042, XP_016875043, XR_001748795, XR_001748796, adaptor protein, phosphotyrosine interacting with PH domain and leucine zipper 2
Omim:OMIM:606231
Id:ENSG00000136044
Hgnc:HGNC:18242
Entrez:55198
Ensembl:ENSG00000136044
Description:adaptor protein, phosphotyrosine interacting with PH domain and leucine zipper 2
The protein encoded by this gene is one of two effectors of the small GTPase RAB5A/Rab5, which are involved in a signal transduction pathway. Both effectors contain an N-terminal Bin/Amphiphysin/Rvs (BAR) domain, a central pleckstrin homology (PH) domain, and a C-terminal phosphotyrosine binding (PTB) domain, and they bind the Rab5 through the BAR domain. They are associated with endosomal membranes and can be translocated to the nucleus in response to the EGF stimulus. They interact with the NuRD/MeCP1 complex (nucleosome remodeling and deacetylase /methyl-CpG-binding protein 1 complex) and are required for efficient cell proliferation. A chromosomal aberration t(12;22)(q24.1;q13.3) involving this gene and the PSAP2 gene results in 22q13.3 deletion syndrome, also known as Phelan-McDermid syndrome. [provided by RefSeq, Oct 2011]

Analyze

Data Distillery
CFDE DD-Knowledge Graph

The CFDE Data Distillery Knowledge Graph contains entities and relationships across the CFDE. View APPL2'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 APPL2.

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 APPL2.

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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 APPL2.

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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 APPL2.

Results found

Linked to

 

Label

Description

 

Gene Set

GSE240439 decitabine 1 v 2 human up

Gene Set (Entity type)

A Gene Set from LINCS

Gene Set

GSE216273,GSE216292 14 V 6 PALBOCICLIB HUMAN DN

Gene Set (Entity type)

A Gene Set from LINCS

Gene Set

GSE145990 1 V 0 IBRUTINIB HUMAN UP

Gene Set (Entity type)

A Gene Set from LINCS

Gene Set

GSE220806 progesterone fibroblast 1 v 3 human dn

Gene Set (Entity type)

A Gene Set from LINCS

Gene Set

GSE203362 0 V 1 ENZALUTAMIDE 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

GSE96649 1 V 0 DEXAMETHASONE HUMAN DN

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

GSE109285 3 V 2 GLUCAGON MOUSE UP

Gene Set (Entity type)

A Gene Set from LINCS

Gene Set

GSE120210 GSE120214 TBXT brachyury inhibition 4 v 0 human dn

Gene Set (Entity type)

A Gene Set from LINCS

  • Gene Set

    GSE240439 decitabine 1 v 2 human up

    Gene Set (Entity type)

    A Gene Set from LINCS

  • Gene Set

    GSE216273,GSE216292 14 V 6 PALBOCICLIB HUMAN DN

    Gene Set (Entity type)

    A Gene Set from LINCS

  • Gene Set

    GSE145990 1 V 0 IBRUTINIB HUMAN UP

    Gene Set (Entity type)

    A Gene Set from LINCS

  • Gene Set

    GSE220806 progesterone fibroblast 1 v 3 human dn

    Gene Set (Entity type)

    A Gene Set from LINCS

  • Gene Set

    GSE203362 0 V 1 ENZALUTAMIDE 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

    GSE96649 1 V 0 DEXAMETHASONE HUMAN DN

    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

    GSE109285 3 V 2 GLUCAGON MOUSE UP

    Gene Set (Entity type)

    A Gene Set from LINCS

  • Gene Set

    GSE120210 GSE120214 TBXT brachyury inhibition 4 v 0 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.