SETD2

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Lua error in Module:Infobox_gene at line 33: attempt to index field 'wikibase' (a nil value). SET domain containing 2 is an enzyme that in humans is encoded by the SETD2 gene.[1][2][3]

Function

SETD2 protein is a histone methyltransferase that is specific for lysine-36 of histone H3, and methylation of this residue is associated with active chromatin. This protein also contains a novel transcriptional activation domain and has been found associated with hyperphosphorylated RNA polymerase II.[3]

Clinical significance

The SETD2 gene is located on the short arm of chromosome 3 and has been shown to play a tumour suppressor role in human cancer.[4]

Interactions

SETD2 has been shown to interact with Huntingtin.[5] Huntington's disease (HD), a neurodegenerative disorder characterized by loss of striatal neurons, is caused by an expansion of a polyglutamine tract in the HD protein huntingtin. SETD2 belongs to a class of huntingtin interacting proteins characterized by WW motifs. [3]

References

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Further reading

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