gene 1,092 words KG: SETD2
Contents

SETD2 Gene

🧬 Gene Info
Gene SymbolSETD2
H3K36 TrimethylationCatalyzes H3K36me3, a mark of transcriptionally active genes — this is the primary and most well-characterized function of SETD2
Transcriptional ElongationFacilitates RNA polymerase II processivity through interaction with the Pol II C-terminal domain
RNA SplicingRegulates alternative splicing through interaction with splicing factors
DNA RepairInvolved in mismatch repair and homologous recombination
SET DomainThe catalytic methyltransferase domain (~130 amino acids)
AWS DomainAssociated with SET domain, required for methyltransferase activity
SRI DomainSet2-Rpb1 Interacting domain that binds to RNA polymerase II CTD phosphorylated at Ser2
Pre-SET RegionRequired for proper folding and catalytic activity
Associated DiseasesLADC
KG Connections12 knowledge graph edges
DatabasesGeneCardsUniProtNCBI GeneHPASTRING

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Knowledge Graph

Knowledge Graph (12 edges)

SETD2 associated_with LADC
ATRX associated_with SETD2
CDKN2A associated_with SETD2
EGFR associated_with SETD2
NF1 associated_with SETD2
PDGFRA associated_with SETD2
SETD2 associated_with TP53
AGER associated_with SETD2
MYCN associated_with SETD2
SETD2 participates_in ubiquitin-proteasome

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