Gene

BBS4

Species
Homo sapiens
Symbol
BBS4
Name
Bardet-Biedl syndrome 4
Synonyms
  • Bardet-Biedl syndrome 4 protein
  • BBSome complex member BBS4
Biotype
protein coding gene
Automated Description
Enables RNA polymerase II-specific DNA-binding transcription factor binding activity; cytoskeletal protein binding activity; and protein-macromolecule adaptor activity. Involved in several processes, including microtubule cytoskeleton organization; protein localization to organelle; and regulation of cytokinesis. Located in several cellular components, including ciliary membrane; ciliary transition zone; and microtubule organizing center. Part of BBSome. Implicated in Bardet-Biedl syndrome 4; morbid obesity; and obesity.
RGD Description
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]
Cross References
Additional Information
Literature

Orthology

Gene tree
PANTHER:PTHR44186
Links to orthology data in JBrowse by filter level: Stringent,  Moderate,  No filter,  Best and Best Reverse

Paralogy

Function - GO Annotations

Pathways

No data available

Phenotypes

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None
Other Sources
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Annotation details
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    Disease Associations

    Cases where the expected disease association was NOT found
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    Alleles and Variants

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      Transgenic Alleles

      Species
      (carrying the transgene)
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      Transgenic construct
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        Models

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          Sequence Feature Viewer

          Genome location
          Assembly version
          GRCh38
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          Data currently unavailable; sequence viewer under construction

          Sequence Details

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          Expression

          Primary Sources
          None
          Other Sources
          Cell color indicative of annotation volume; red slash indicates species lacks structure or developmental stage.

          Molecular Interactions

          BBS4 molecule type
          Interactor gene
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            Genetic Interactions

            BBS4 role
            BBS4 genetic perturbation
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