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GPHN (Gene)

Organism:

Homo sapiens

Taxonomy (Entity type)
Synonyms:ENTREZ:10243, GEPH, GPH, GPHN, GPHRYN, HGNC:15465, HKPX1, MIM:603930, MOCODC, NM_001024218, NM_001377514, NM_001377515, NM_001377516, NM_001377517, NM_001377518, NM_001377519, NM_020806, NP_001019389, NP_001364443, NP_001364444, NP_001364445, NP_001364446, NP_001364447, NP_001364448, NP_065857, XM_011536340, XM_011536342, XM_011536343, XM_011536344, XM_011536345, XM_017020913, XM_017020914, XM_017020917, XM_017020918, XM_017020920, XM_017020921, XM_017020922, XM_017020923, XM_017020924, XM_017020926, XP_011534642, XP_011534644, XP_011534645, XP_011534646, XP_011534647, XP_016876402, XP_016876403, XP_016876406, XP_016876407, XP_016876409, XP_016876410, XP_016876411, XP_016876412, XP_016876413, XP_016876415, gephyrin
Omim:OMIM:603930
Id:ENSG00000171723
Hgnc:HGNC:15465
Entrez:10243
Ensembl:ENSG00000171723
Description:gephyrin
This gene encodes a neuronal assembly protein that anchors inhibitory neurotransmitter receptors to the postsynaptic cytoskeleton via high affinity binding to a receptor subunit domain and tubulin dimers. In nonneuronal tissues, the encoded protein is also required for molybdenum cofactor biosynthesis. Mutations in this gene may be associated with the neurological condition hyperplexia and also lead to molybdenum cofactor deficiency. Numerous alternatively spliced transcript variants encoding different isoforms have been described; however, the full-length nature of all transcript variants is not currently known. [provided by RefSeq, Jul 2008]

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Data Distillery
CFDE DD-Knowledge Graph

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

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 GPHN.

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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 GPHN.

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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 GPHN.

Results found

Linked to

 

Label

Description

 

Gene Set

GSE193351 ruxolitinib 1 v 2 human dn

Gene Set (Entity type)

A Gene Set from LINCS

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GSE158834 ADIPOR2 knockout HEK293 1 v 6 human dn

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

GSE261563 CX-5461 6 v 1 human up

Gene Set (Entity type)

A Gene Set from LINCS

Gene Set

GSE212231 GSE218491 SHP2 inhibition 3 v 5 human up

Gene Set (Entity type)

A Gene Set from LINCS

Gene Set

GSE255432 7 V 3 IMEGLIMIN MOUSE UP

Gene Set (Entity type)

A Gene Set from LINCS

Gene Set

GSE139987 1 V 0 ROSIGLITAZONE MOUSE DN

Gene Set (Entity type)

A Gene Set from LINCS

Gene Set

GSE139987 1 V 2 ROSIGLITAZONE MOUSE DN

Gene Set (Entity type)

A Gene Set from LINCS

Gene Set

GSE203362 0 V 1 ENZALUTAMIDE HUMAN UP

Gene Set (Entity type)

A Gene Set from LINCS

Gene Set

GSE189653,GSE203344 5 V 3 FLUOXETINE MOUSE UP

Gene Set (Entity type)

A Gene Set from LINCS

  • Gene Set

    GSE193351 ruxolitinib 1 v 2 human dn

    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

    GSE229973 3 V 2 CISPLATIN HUMAN DN

    Gene Set (Entity type)

    A Gene Set from LINCS

  • Gene Set

    GSE261563 CX-5461 6 v 1 human up

    Gene Set (Entity type)

    A Gene Set from LINCS

  • Gene Set

    GSE212231 GSE218491 SHP2 inhibition 3 v 5 human up

    Gene Set (Entity type)

    A Gene Set from LINCS

  • Gene Set

    GSE255432 7 V 3 IMEGLIMIN MOUSE UP

    Gene Set (Entity type)

    A Gene Set from LINCS

  • Gene Set

    GSE139987 1 V 0 ROSIGLITAZONE MOUSE DN

    Gene Set (Entity type)

    A Gene Set from LINCS

  • Gene Set

    GSE139987 1 V 2 ROSIGLITAZONE MOUSE DN

    Gene Set (Entity type)

    A Gene Set from LINCS

  • Gene Set

    GSE203362 0 V 1 ENZALUTAMIDE HUMAN UP

    Gene Set (Entity type)

    A Gene Set from LINCS

  • Gene Set

    GSE189653,GSE203344 5 V 3 FLUOXETINE MOUSE 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.