Harmonizome 3.0

SET domain containing 2

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. This gene encodes a protein belonging to a class of huntingtin interacting proteins characterized by WW motifs. This 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. [provided by RefSeq, Aug 2008]

From GeneRIF Biological Term Annotations

genes co-occuring with the biological term setd2 in literature-supported statements describing functions of genes from the GeneRIF Biological Term Annotations dataset.

From Pathway Commons Protein-Protein Interactions

interacting proteins for SETD2 from the Pathway Commons Protein-Protein Interactions dataset.

From LINCS L1000 CMAP CRISPR Knockout Consensus Signatures

genes differentially expressed following the SETD2 gene perturbation from the LINCS L1000 CMAP CRISPR Knockout Consensus Signatures dataset.

From CM4AI KOLF21J CRISPRi Gene Perturbation Atlas

genes differentially expressed following the SETD2 gene perturbation from the CM4AI KOLF21J CRISPRi Gene Perturbation Atlas.

From ClinVar Gene-Phenotype Associations 2025

genes associated with the SETD2 associated neurodevelopmental disorder phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

From ClinVar Gene-Phenotype Associations 2025

genes associated with the SETD2-related neurodevelopmental disorder phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.