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BBS4 (Gene)

Organism:

Homo sapiens

Taxonomy (Entity type)
Synonyms:BBS4, Bardet-Biedl syndrome 4, ENTREZ:585, HGNC:969, MIM:600374, NM_001252678, NM_001320665, NM_033028, NP_001239607, NP_001307594, NP_149017, NR_045565, NR_045566, XM_011521848, XM_011521849, XM_011521851, XM_017022450, XM_017022452, XM_017022453, XM_017022454, XP_011520150, XP_011520151, XP_011520153, XP_016877939, XP_016877941, XP_016877942, XP_016877943
Omim:OMIM:600374
Id:ENSG00000140463
Hgnc:HGNC:969
Entrez:585
Ensembl:ENSG00000140463
Description:Bardet-Biedl syndrome 4
This gene is a member of the Bardet-Biedl syndrome (BBS) gene family. Bardet-Biedl syndrome is an autosomal recessive disorder characterized by severe pigmentary retinopathy, obesity, polydactyly, renal malformation and cognitive disability. The proteins encoded by BBS gene family members are structurally diverse. The similar phenotypes exhibited by mutations in BBS gene family members are likely due to the protein's shared roles in cilia formation and function. Many BBS proteins localize to the basal bodies, ciliary axonemes, and pericentriolar regions of cells. BBS proteins may also be involved in intracellular trafficking via microtubule-related transport. The protein encoded by this gene has sequence similarity to O-linked N-acetylglucosamine (O-GlcNAc) transferases in plants and archaebacteria and in human forms a multi-protein "BBSome" complex with seven other BBS proteins. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Mar 2016]

Analyze

Data Distillery
CFDE DD-Knowledge Graph

The CFDE Data Distillery Knowledge Graph contains entities and relationships across the CFDE. View BBS4's neighborhood in the knowledge graph.

Submit
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 BBS4.

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 BBS4.

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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 BBS4.

Submit
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 BBS4.

Results found

Linked to

 

Label

Description

 

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GSE213588 trametinib NF1 8 v 11 human up

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GSE77108 8 V 7 SAHA HUMAN DN

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GSE139178 GDC-0068 3 v 7 human up

Gene Set (Entity type)

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GSE196343 metformin 1 v 0 human dn

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GSE189859 GSE189861 IDH1 knockout 4 v 2 human dn

Gene Set (Entity type)

A Gene Set from LINCS

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GSE48812 sulforaphane 2 v 5 human up

Gene Set (Entity type)

A Gene Set from LINCS

Gene Set

GSE213588 8 V 11 TRAMETINIB HUMAN UP

Gene Set (Entity type)

A Gene Set from LINCS

Gene Set

GSE228106 0 V 4 PACLITAXEL 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

    GSE131887 5 V 2 DOXYCYCLINE MOUSE UP

    Gene Set (Entity type)

    A Gene Set from LINCS

  • Gene Set

    GSE213588 trametinib NF1 8 v 11 human up

    Gene Set (Entity type)

    A Gene Set from LINCS

  • Gene Set

    GSE77108 8 V 7 SAHA HUMAN DN

    Gene Set (Entity type)

    A Gene Set from LINCS

  • Gene Set

    GSE139178 GDC-0068 3 v 7 human up

    Gene Set (Entity type)

    A Gene Set from LINCS

  • Gene Set

    GSE196343 metformin 1 v 0 human dn

    Gene Set (Entity type)

    A Gene Set from LINCS

  • Gene Set

    GSE189859 GSE189861 IDH1 knockout 4 v 2 human dn

    Gene Set (Entity type)

    A Gene Set from LINCS

  • Gene Set

    GSE48812 sulforaphane 2 v 5 human up

    Gene Set (Entity type)

    A Gene Set from LINCS

  • Gene Set

    GSE213588 8 V 11 TRAMETINIB HUMAN UP

    Gene Set (Entity type)

    A Gene Set from LINCS

  • Gene Set

    GSE228106 0 V 4 PACLITAXEL 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
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