From Wikipedia, the free encyclopedia
Protein-coding gene in the species Homo sapiens
SETD2
Identifiers
Aliases
SETD2 , HBP231, HIF-1, HIP-1, HYPB, KMT3A, SET2, p231HBP, HSPC069, LLS, SET domain containing 2External IDs
OMIM :
612778 ;
MGI :
1918177 ;
HomoloGene :
56493 ;
GeneCards :
SETD2 ;
OMA :
SETD2 - orthologs
Wikidata
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]
The
trimethylation of
lysine -36 of
histone H3 (
H3K36me3 ) is required in human cells for
homologous recombinational
repair and
genome stability.
[8] Depletion of SETD2 increases the frequency of
deletion
mutations that arise by the alternative
DNA repair process of
microhomology-mediated end joining .
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.
[9]
Interactions
SETD2 has been shown to
interact with
Huntingtin .
[10]
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
^
a
b
c
GRCh38: Ensembl release 89: ENSG00000181555 –
Ensembl , May 2017
^
a
b
c
GRCm38: Ensembl release 89: ENSMUSG00000044791 –
Ensembl , May 2017
^
"Human PubMed Reference:" . National Center for Biotechnology Information, U.S. National Library of Medicine .
^
"Mouse PubMed Reference:" . National Center for Biotechnology Information, U.S. National Library of Medicine .
^ 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 .
S2CID
31658986 .
^
a
b
c
"Entrez Gene: SETD2 SET domain containing 2" .
^ Pfister SX, Ahrabi S, Zalmas LP, Sarkar S, Aymard F, Bachrati CZ, Helleday T, Legube G, La Thangue NB, Porter AC, Humphrey TC (June 2014).
"SETD2-dependent histone H3K36 trimethylation is required for homologous recombination repair and genome stability" . Cell Rep . 7 (6): 2006–18.
doi :
10.1016/j.celrep.2014.05.026 .
PMC
4074340 .
PMID
24931610 .
^ 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 .
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.
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.
Bibcode :
2002PNAS...9916899M .
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.
Bibcode :
2004PNAS..10112130B .
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 .
S2CID
13709685 .
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 .
S2CID
7827573 .