TBC1D2B

Chr 15

TBC1 domain family member 2B

Also known as: NEDSGO

NCBI Gene: 23102 ENSG00000167202 UniProt: Q9UPU7

The protein functions as a GTPase-activating protein involved in the early steps of endocytosis. Mutations cause a neurodevelopmental disorder with seizures and gingival overgrowth, inherited in an autosomal recessive pattern. The gene shows moderate constraint against loss-of-function variants (LOEUF 0.70), suggesting some tolerance to complete protein loss.

ResearchSummary from RefSeq, OMIM, UniProt

Predicted to enable GTPase activator activity. Involved in endocytosis. Located in cytosol and early endosome. Implicated in neurodevelopmental disorder with seizures and gingival overgrowth. [provided by Alliance of Genome Resources, Jun 2026]

ResearchGenerating clinical summary…

Primary Disease Associations & Inheritance

UniProtNeurodevelopmental disorder with seizures and gingival overgrowth

Clinical highlights

Interpreting a novel variant

Loss of function is the curated mechanism (Gene2Phenotype), though the gene is not strongly LoF-constrained in the population — weigh truncating variants against that tolerance.Curated gene-level mechanism — a prior for triage, not a per-variant call.

Active trials

Pubs (1 yr)

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P/LP submissions

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P/LP missense

0.70

LOEUF

LOF

Mechanism· G2P

Some data sources returned errors (1)

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