Kalpana Kalpana (Editor)

SETD2

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Species
  
Entrez
  
29072

Human
  
Ensembl
  
ENSG00000181555

SETD2

Aliases
  
SETD2, HBP231, HIF-1, HIP-1, HYPB, KMT3A, SET2, p231HBP, HSPC069, LLS, SET domain containing 2

External IDs
  
MGI: 1918177 HomoloGene: 56493 GeneCards: SETD2

SET domain containing 2 is an enzyme that in humans is encoded by the SETD2 gene.

Contents

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.

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.

Interactions

SETD2 has been shown to interact with Huntingtin. 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.

References

SETD2 Wikipedia


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