![]() "Huntingtin's WW domain partners in Huntington's disease post-mortem brain fulfill genetic criteria for direct involvement in Huntington's disease pathogenesis". Passani LA, Bedford MT, Faber PW, et al."Huntingtin interacts with a family of WW domain proteins". Faber PW, Barnes GT, Srinidhi J, et al.^ Faber PW, Barnes GT, Srinidhi J, Chen J, Gusella JF, MacDonald ME (September 1998)."The mRNA expression of SETD2 in human breast cancer: correlation with clinico-pathological parameters". ^ Al Sarakbi W, Sasi W, Jiang WG, Roberts T, Newbold RF, Mokbel K (2009)."SETD2-dependent histone H3K36 trimethylation is required for homologous recombination repair and genome stability". ^ 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).^ a b c "Entrez Gene: SETD2 SET domain containing 2"."Identification of the full-length huntingtin- interacting protein p231HBP/HYPB as a DNA-binding factor". ^ Rega S, Stiewe T, Chang DI, Pollmeier B, Esche H, Bardenheuer W, Marquitan G, Putzer BM (Jul 2001)."Identification and characterization of a novel human histone H3 lysine 36-specific methyltransferase". ^ Sun XJ, Wei J, Wu XY, Hu M, Wang L, Wang HH, Zhang QH, Chen SJ, Huang QH, Chen Z (Oct 2005).National Center for Biotechnology Information, U.S. SETD2 belongs to a class of huntingtin interacting proteins characterized by WW motifs. 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 has been shown to interact with Huntingtin. 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. Depletion of SETD2 increases the frequency of deletion mutations that arise by the alternative DNA repair process of microhomology-mediated end joining. The trimethylation of lysine-36 of histone H3 ( H3K36me3) is required in human cells for homologous recombinational repair and genome stability. This protein also contains a novel transcriptional activation domain and has been found associated with hyperphosphorylated RNA polymerase II. 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. SET domain containing 2 is an enzyme that in humans is encoded by the SETD2 gene. cellular response to DNA damage stimulus.regulation of protein localization to chromatin.microtubule cytoskeleton organization involved in mitosis.positive regulation of interferon-alpha production.regulation of double-strand break repair via homologous recombination.embryonic cranial skeleton morphogenesis.cell migration involved in vasculogenesis.transcription elongation from RNA polymerase II promoter.regulation of transcription, DNA-templated.Click "Interaction Details" to view all interactionĪnnotations and evidence for this locus, including an interaction visualization. Reference, as well as other experimental details. Interactor, assay type (e.g., Two-Hybrid), annotation type (e.g., manual or high-throughput), and a An interaction annotation is composed of the interaction type, name of the Interaction annotations are curated by BioGRID and include physicalīetween at least two genes. utilization of nitrogen source: decreased rate.chemical compound accumulation: increased.chemical compound accumulation: abnormal.Summary Non-essential gene null mutant has no methylation of histone H3 at Lys36 and shows higher sensitivity to 6-azauracil and X-rays, increased sporulation and meiotic recombination in diploid in systematic studies null mutants are sensitive to DMSO, MMS, rapamycin and tunicamycin, but resistant to camptothecin, acetate, cycloheximide, mycophenolic acid Click "Phenotype Details" to view all phenotype annotations andĮvidence for this locus as well as phenotypes it shares with other genes. Whenever possible, allele information andĪdditional details are provided. (e.g., large scale survey, systematic mutation set). In addition, annotations are classified as classical genetics or high-throughput (e.g., "cell shape"), a qualifier (e.g., "abnormal"), a mutant type (e.g., null), strain background,Īnd a reference. Phenotype annotations for a gene are curated single mutant phenotypes that require an observable
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