| Gene Symbol |
SETD2
|
| Entrez Gene |
29072
|
| Alt Symbol |
HBP231, HIF-1, HIP-1, HSPC069, HYPB, KMT3A, SET2, p231HBP
|
| Species |
Human
|
| Gene Type |
protein-coding
|
| Description |
SET domain containing 2
|
| Other Description |
histone-lysine N-methyltransferase SETD2|huntingtin interacting protein 1|huntingtin yeast partner B|huntingtin-interacting protein B|lysine N-methyltransferase 3A
|
| Swissprots |
Q8TCN0 Q6ZS25 O75405 Q9C0D1 Q8N3R0 Q9BYW2 Q5QGN2 Q6ZN53 O75397 Q9H696 Q9NZW9 Q6IN64 Q17RW8 Q5BKS9 Q69YI5
|
| Accessions |
EAW64805 EAW64806 EAW64807 EAW64808 EAW64809 EAW64810 EAW64811 Q9BYW2 AB051519 BAB21823 AF049103 AAC26194 AF049610 AAC26846 AF161554 AAF29041 AI671342 AJ238403 CAC28349 AK026125 BAB15367 AK026837 AK091413 AK095494 AK127782 BAC87131 AK128096 AK131371 BAD18522 AL049470 AL713692 CAD28492 AL831959 CAD38601 AL833394 CAH10589 AY576987 AAT77612 AY576988 AAT77613 BC072440 AAH72440 BC090954 AAH90954 BC117162 AAI17163 BC117164 AAI17165 BF437034 BX649110 DA800082 XM_011533631 XP_011531933 XM_011533632 XP_011531934 XM_011533633 XP_011531935 XM_011533634 XP_011531936 XR_940418 XR_940419 XR_940420 NM_014159 NP_054878 NM_012271
|
| Function |
Histone methyltransferase that specifically trimethylates 'Lys-36' of histone H3 (H3K36me3) using dimethylated 'Lys-36' (H3K36me2) as substrate. Represents the main enzyme generating H3K36me3, a specific tag for epigenetic transcriptional activation. Plays a role in chromatin structure modulation during elongation by coordinating recruitment of the FACT complex and by interacting with hyperphosphorylated POLR2A. Acts as a key regulator of DNA mismatch repair in G1 and early S phase by generating H3K36me3, a mark required to recruit MSH6 subunit of the MutS alpha complex: early recruitment of the MutS alpha complex to chromatin to be replicated allows a quick identification of mismatch DNA to initiate the mismatch repair reaction. H3K36me3 also plays an essential role in the maintenance of a heterochromatic state, by recruiting DNA methyltransferase DNMT3A. H3K36me3 is also enhanced in intron-containing genes, suggesting that SETD2 recruitment is enhanced by splicing and that splicing i
|
| Subcellular Location |
Nucleus {ECO:0000305}. Chromosome {ECO:0000305}.
|
| Tissue Specificity |
Ubiquitously expressed. {ECO:0000269|PubMed:11461154}.
|
| Top Pathways |
Lysine degradation
|