SETD2

SETD2
Available structures
PDB	Ortholog search: PDBe RCSB
List of PDB id codes
	2A7O, 2MDC, 2MDI, 2MDJ, 4FMU, 4H12
Identifiers
Aliases	SETD2, HBP231, HIF-1, HIP-1, HYPB, KMT3A, SET2, p231HBP, HSPC069, LLS, SET domain containing 2
External IDs	MGI: 1918177 HomoloGene: 56493 GeneCards: SETD2
Gene location (Human)
Chr.	Chromosome 3 (human)[1]
End	47,163,967 bp[1]
Gene location (Mouse)
Chr.	Chromosome 9 (mouse)[2]
End	110,618,633 bp[2]
RNA expression pattern
	; ; ; ;
	More reference expression data
Gene ontology
Molecular function	• methyltransferase activity; • transferase activity; • protein binding; • histone-lysine N-methyltransferase activity; • protein-lysine N-methyltransferase activity; • alpha-tubulin binding; • histone methyltransferase activity (H3-K36 specific); • metal ion binding;
Cellular component	• nucleoplasm; • cell nucleus; • chromosome;
Biological process	• regulation of transcription, DNA-templated; • histone H3-K36 dimethylation; • regulation of mRNA export from nucleus; • embryonic organ development; • stem cell development; • embryonic placenta morphogenesis; • transcription elongation from RNA polymerase II promoter; • coronary vasculature morphogenesis; • cell migration involved in vasculogenesis; • morphogenesis of a branching structure; • transcription, DNA-templated; • mesoderm morphogenesis; • vasculogenesis; • histone H3-K36 methylation; • methylation; • neural tube closure; • nucleosome organization; • angiogenesis; • pericardium development; • regulation of gene expression; • histone H3-K36 trimethylation; • embryonic cranial skeleton morphogenesis; • mismatch repair; • histone lysine methylation; • forebrain development; • regulation of double-strand break repair via homologous recombination; • peptidyl-lysine trimethylation; • peptidyl-lysine monomethylation; • regulation of cytokinesis; • positive regulation of interferon-alpha production; • response to type I interferon; • endodermal cell differentiation; • stem cell differentiation; • microtubule cytoskeleton organization involved in mitosis; • regulation of protein localization to chromatin; • immune system process; • DNA repair; • cellular response to DNA damage stimulus; • multicellular organism development; • cell differentiation; • innate immune response; • defense response to virus; • chromatin organization;
	Sources:Amigo / QuickGO
Orthologs
	29072
	235626
	ENSG00000181555
	ENSMUSG00000044791
	Q9BYW2
	E9Q5F9
	NM_012271; NM_014159; NM_001349370
	NM_001081340
	NP_054878; NP_001336299
	NP_001074809
	Wikidata
View/Edit Human	View/Edit Mouse

SET domain containing 2 is an enzyme that in humans is encoded by the SETD2 gene.^[5]^[6]^[7]

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.^[7]

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.^[8]

Interactions

SETD2 has been shown to interact with Huntingtin.^[9] 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.^[7]

References

1 2 3 GRCh38: Ensembl release 89: ENSG00000181555 - Ensembl, May 2017
1 2 3 GRCm38: Ensembl release 89: ENSMUSG00000044791 - Ensembl, May 2017
↑ "Human PubMed Reference:".
↑ "Mouse PubMed Reference:".
↑ 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.
↑ 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.
1 2 3 "Entrez Gene: SETD2 SET domain containing 2".
↑ 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.
↑ 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.

Faber PW, Barnes GT, Srinidhi J, et al. (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.
Passani LA, Bedford MT, Faber PW, et al. (2000). "Huntingtin's WW domain partners in Huntington's disease post-mortem brain fulfill genetic criteria for direct involvement in Huntington's disease pathogenesis". Hum. Mol. Genet. 9 (14): 2175–82. doi:10.1093/hmg/9.14.2175. PMID 10958656.
Zhang QH, Ye M, Wu XY, et al. (2001). "Cloning and functional analysis of cDNAs with open reading frames for 300 previously undefined genes expressed in CD34+ hematopoietic stem/progenitor cells". Genome Res. 10 (10): 1546–60. doi:10.1101/gr.140200. PMC 310934. PMID 11042152.
Nagase T, Kikuno R, Hattori A, et al. (2001). "Prediction of the coding sequences of unidentified human genes. XIX. The complete sequences of 100 new cDNA clones from brain which code for large proteins in vitro". DNA Res. 7 (6): 347–55. doi:10.1093/dnares/7.6.347. PMID 11214970.
Strausberg RL, Feingold EA, Grouse LH, et al. (2003). "Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences". Proc. Natl. Acad. Sci. U.S.A. 99 (26): 16899–903. doi:10.1073/pnas.242603899. PMC 139241. PMID 12477932.
Ota T, Suzuki Y, Nishikawa T, et al. (2004). "Complete sequencing and characterization of 21,243 full-length human cDNAs". Nat. Genet. 36 (1): 40–5. doi:10.1038/ng1285. PMID 14702039.
Beausoleil SA, Jedrychowski M, Schwartz D, et al. (2004). "Large-scale characterization of HeLa cell nuclear phosphoproteins". Proc. Natl. Acad. Sci. U.S.A. 101 (33): 12130–5. doi:10.1073/pnas.0404720101. PMC 514446. PMID 15302935.
Gerhard DS, Wagner L, Feingold EA, et al. (2004). "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)". Genome Res. 14 (10B): 2121–7. doi:10.1101/gr.2596504. PMC 528928. PMID 15489334.
Li M, Phatnani HP, Guan Z, et al. (2006). "Solution structure of the Set2-Rpb1 interacting domain of human Set2 and its interaction with the hyperphosphorylated C-terminal domain of Rpb1". Proc. Natl. Acad. Sci. U.S.A. 102 (49): 17636–41. doi:10.1073/pnas.0506350102. PMC 1308900. PMID 16314571.
Lim J, Hao T, Shaw C, et al. (2006). "A protein-protein interaction network for human inherited ataxias and disorders of Purkinje cell degeneration". Cell. 125 (4): 801–14. doi:10.1016/j.cell.2006.03.032. PMID 16713569.
Olsen JV, Blagoev B, Gnad F, et al. (2006). "Global, in vivo, and site-specific phosphorylation dynamics in signaling networks". Cell. 127 (3): 635–48. doi:10.1016/j.cell.2006.09.026. PMID 17081983.

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[refGRCh38Ensembl-1] 1 2 3 GRCh38: Ensembl release 89: ENSG00000181555 - Ensembl, May 2017

[refGRCm38Ensembl-2] 1 2 3 GRCm38: Ensembl release 89: ENSMUSG00000044791 - Ensembl, May 2017

[3] "Human PubMed Reference:".

[4] "Mouse PubMed Reference:".

[pmid16118227-5] 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.

[pmid11461154-6] 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.

[entrez-7] 1 2 3 "Entrez Gene: SETD2 SET domain containing 2".

[pmid19698110-8] 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.

[pmid9700202-9] 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.

SETD2

Function

Clinical significance

Interactions

References

Further reading