SETD2

SET domain containing 2

PDB rendering based on 2a7o.
Available structures
PDB Ortholog search: PDBe, RCSB
Identifiers
Symbols SETD2 ; HBP231; HIF-1; HIP-1; HSPC069; HYPB; KMT3A; SET2; p231HBP
External IDs OMIM: 612778 MGI: 1918177 HomoloGene: 56493 GeneCards: SETD2 Gene
EC number 2.1.1.43
RNA expression pattern
More reference expression data
Orthologs
Species Human Mouse
Entrez 29072 235626
Ensembl ENSG00000181555 ENSMUSG00000044791
UniProt Q9BYW2 E9Q5F9
RefSeq (mRNA) NM_012271 NM_001081340
RefSeq (protein) NP_054878 NP_001074809
Location (UCSC) Chr 3:
47.02 – 47.16 Mb
Chr 9:
110.53 – 110.62 Mb
PubMed search

SET domain containing 2 is an enzyme that in humans is encoded by the SETD2 gene.[1][2][3]

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.[3]

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.[4]

Interactions

SETD2 has been shown to interact with Huntingtin.[5] 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. [3]

References

  1. Sun XJ, Wei J, Wu XY, Hu M, Wang L, Wang HH, Zhang QH, Chen SJ, Huang QH, Chen Z (Oct 2005). "Identification and characterization of a novel human histone H3 lysine 36-specific methyltransferase". J Biol Chem 280 (42): 35261–71. doi:10.1074/jbc.M504012200. PMID 16118227.
  2. Rega S, Stiewe T, Chang DI, Pollmeier B, Esche H, Bardenheuer W, Marquitan G, Putzer BM (Jul 2001). "Identification of the full-length huntingtin- interacting protein p231HBP/HYPB as a DNA-binding factor". Mol Cell Neurosci 18 (1): 68–79. doi:10.1006/mcne.2001.1004. PMID 11461154.
  3. 1 2 3 "Entrez Gene: SETD2 SET domain containing 2".
  4. Al Sarakbi W, Sasi W, Jiang WG, Roberts T, Newbold RF, Mokbel K (2009). "The mRNA expression of SETD2 in human breast cancer: correlation with clinico-pathological parameters". BMC Cancer 9: 290. doi:10.1186/1471-2407-9-290. PMC 3087337. PMID 19698110.
  5. Faber PW, Barnes GT, Srinidhi J, Chen J, Gusella JF, MacDonald ME (September 1998). "Huntingtin interacts with a family of WW domain proteins". Hum. Mol. Genet. 7 (9): 1463–74. doi:10.1093/hmg/7.9.1463. PMID 9700202.

Further reading

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