TBC1D10B

Chr 16

TBC1 domain family member 10B

Also known as: EPI64B, FP2461

NCBI Gene: 26000 ENSG00000169221 UniProt: Q4KMP7

TBC1D10B encodes a GTPase-activating protein that regulates RAB3A, RAB22A, RAB27A, and RAB35, which are essential for intracellular vesicle trafficking. The gene is highly constrained against loss-of-function variants (pLI = 1.0, LOEUF = 0.21), indicating that mutations likely cause severe developmental phenotypes. However, no specific disease associations or inheritance patterns have been established for this gene.

ResearchSummary from RefSeq, UniProt

Small G proteins of the RAB family (see MIM 179508) function in intracellular vesicle trafficking by switching from the GTP-bound state to the GDP-bound state with the assistance of guanine nucleotide exchange factors (GEFs; see MIM 609700) and GTPase-activating proteins (GAPs). TBC1D10B functions as a GAP for several proteins of the Rab family (Ishibashi et al., 2009 [PubMed 19077034]).[supplied by OMIM, Nov 2010]

ResearchGenerating clinical summary…

Clinical highlights

Interpreting a novel variant

This gene is strongly intolerant of loss-of-function variation in the population, so LoF variants warrant close attention. No curated mechanism annotation is available — see the mechanism card for the computational prediction and its caveats.Based on population constraint only.

Active trials

Pubs (1 yr)

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P/LP submissions

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P/LP missense

0.21

LOEUF· LoF intol.

Multiple*

Mechanism· predicted

Some data sources returned errors (1)

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