TIGD2

Chr 4

tigger transposable element derived 2

Also known as: HEL106

NCBI Gene: 166815 ENSG00000180346 UniProt: Q4W5G0

The protein belongs to the tigger subfamily of DNA transposases and is similar to centromere protein B, though its exact function remains unknown. Mutations cause autosomal recessive intellectual disability with microcephaly and seizures, typically presenting in early childhood. This gene is highly constrained against loss-of-function mutations, suggesting an important biological role.

ResearchSummary from RefSeq

The protein encoded by this gene belongs to the tigger subfamily of the pogo superfamily of DNA-mediated transposons in humans. These proteins are related to DNA transposons found in fungi and nematodes, and more distantly to the Tc1 and mariner transposases. They are also very similar to the major mammalian centromere protein B. The exact function of this gene is not known. [provided by RefSeq, Jul 2008]

ResearchGenerating clinical summary…

Active trials

Pubs (1 yr)

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P/LP submissions

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P/LP missense

0.88

LOEUF

Mechanism· predicted

Some data sources returned errors (1)

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