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  2. www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
    Mutations in the Small GTPase Gene RAB39B Are Responsible for X-linked Mental Retardation Associated with Autism, Epilepsy, and Macrocephaly
    2
    1. ClingenBaseline 22 Oct 2026
      Undifferentiated N2A cells were infected with two independent shRNAs against Rab39b

      NonPatientCell: EFO:0005214

      GOterm: GO:0016192

      GeneAlteration: Undifferentiated N2A cells (murine neuroblastoma cell line) were infected with shRNAs to downregulate endogenous Rab39b expression by 45%.

      FunctionalEvidence: N2A cells 4d after treatment with shRNA showed a change in morphology. Clumps of actin and reduced and/or altered membrane protrusions were observed. Rescue with WT RAB39B was able to restore the normal actin and cytoskeletal morphology, indicating that Rab39b may alter intracellular vesicular trafficking steps essential for membrane remodeling.

      FAVariants:

      Gene:RAB39B FunctionalAlteration NonPateintCells inferred_gene_hgnc:16499 inferred_gene_source:Gene_Name UNC Biocuration Core
    2. ClingenBaseline 22 Oct 2026
      significant alteration in morphology and the number of growth cones (GCs; Figure 5A). GCs were decreased in number at each neurite terminal. The mean number of GCs per neurite

      NonPatientCell: CL:0002608

      GOterm: GO:0016192

      GeneAlteration: Rab39b expression was knocked down in mouse primary hippocampal neurons using shRNA

      FunctionalEvidence: Expression of Rab39b was reduced by 40% as determined by RT-PCR. Morphological analysis showed significant alteration and the number of growth cones was decreased at each neurite terminal. Authors also show that RAB39B was localized to growth cones and could be involved in intracellular trafficking related to membrane recycling of Golgi-derived vesicles. Therefore RAB39B gene alterations can lead to impaired trafficking and lead to accumulation in membrane content and disorganized growth of growth cones.

      FAVariants:

      FunctionalAlteration NonPateintCells Gene:RAB39B inferred_gene_hgnc:16499 inferred_gene_source:Gene_Name UNC Biocuration Core
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    ncbi.nlm.nih.gov/pmc/articles/PMC2820185/