SETD2

From Wikipedia, the free encyclopedia

SET domain containing 2

PDB rendering based on 2a7o.

Available structures: 2a7o

Identifiers

Symbol(s)

SETD2; FLJ16420; FLJ22472; FLJ23184; FLJ45883; HIF-1; HSPC069; HYPB; KIAA1732

External IDs

MGI: 1918177 HomoloGene: 56493

Gene ontology
Molecular Function:	• DNA binding • methyltransferase activity • transferase activity • histone-lysine N-methyltransferase activity
Cellular Component:	• nucleus
Biological Process:	• transcription • regulation of transcription, DNA-dependent • chromatin modification

RNA expression pattern

More reference expression data

Orthologs

Human

Mouse

n/a

Refseq

NM_014159 (mRNA)
NP_054878 (protein)

XM_895138 (mRNA)
XP_900231 (protein)

Location

Chr 3: 47.03 - 47.18 Mb

Chr 9: 110.42 - 110.46 Mb

Pubmed search

[1]

[2]

SET domain containing 2, also known as SETD2, is a human gene.^[1]

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.^[1]

[edit] References

^ ^a ^b Entrez Gene: SETD2 SET domain containing 2.

[edit] Further reading

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. 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. 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. 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. PMID 11214970.
Rega S, Stiewe T, Chang DI, et al. (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.
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. 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. 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. PMID 15489334.
Sun XJ, Wei J, Wu XY, et al. (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.
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. 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.