SETD2
Sign in to saveAlso known as HBP231, HIF-1, HIP-1, HYPB, KMT3A, SET2, p231HBP, HSPC069
SET domain containing 2 is an enzyme that in humans is encoded by the SETD2 gene.
Gene data
SETD2- Name
- SET domain containing 2, histone lysine methyltransferase
- Type
- protein-coding
- Aliases
- HBP231, HIF-1, HIP-1, HSPC069, HYPB, KMT3A, LLS, MRD70, RAPAS, SET2
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].
via MyGene.info
Gene · Ensembl
SET domain containing 2, histone lysine methyltransferase
- Symbol
- SETD2
- Biotype
- Protein coding
- Organism
- Homo sapiens
- Location
- 3:47,016,428-47,164,148
- Strand
- Reverse (−)
- Assembly
- GRCh38
via Ensembl · EMBL-EBI
Wikidata facts
- Image
- Protein SETD2 PDB 2a7o.png
Show 5 more facts
- HomoloGene ID
- 56493
- exact match
- identifiers.org/ncbigene/29072
- genomic end
- 47205457
- genomic start
- 47057919
- cytogenetic location
- 3p21.31
via Wikidata · CC0
~1 min read
Article
5 sectionsContents
- Function
- Clinical significance
- Interactions
- References
- Further reading
SET domain containing 2 is an enzyme that in humans is encoded by the SETD2 gene.
== 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.