Details for: SETD2

Gene ID: 29072

Symbol: SETD2

Ensembl ID: ENSG00000181555

Description: SET domain containing 2, histone lysine methyltransferase

Associated with

Cells (max top 100)

(Cell Significance Index and respective Thresholds are uniquely calculated using our advanced thresholding algorithms to reveal cell-specific gene markers)

  • Cell Name: polychromatophilic erythroblast (CL0000550)
    Fold Change: 508.6302
    Cell Significance Index: -79.1200
  • Cell Name: hematopoietic oligopotent progenitor cell (CL0002032)
    Fold Change: 314.5361
    Cell Significance Index: -79.7800
  • Cell Name: embryonic stem cell (CL0002322)
    Fold Change: 209.2256
    Cell Significance Index: -86.1900
  • Cell Name: smooth muscle fiber of ileum (CL1000278)
    Fold Change: 177.4327
    Cell Significance Index: -83.7700
  • Cell Name: mucosal type mast cell (CL0000485)
    Fold Change: 168.0709
    Cell Significance Index: -68.2800
  • Cell Name: peripheral blood mononuclear cell (CL2000001)
    Fold Change: 150.9958
    Cell Significance Index: -77.6700
  • Cell Name: ileal goblet cell (CL1000326)
    Fold Change: 124.8543
    Cell Significance Index: -83.7800
  • Cell Name: ciliated cell of the bronchus (CL0002332)
    Fold Change: 71.6737
    Cell Significance Index: -68.4300
  • Cell Name: orthochromatic erythroblast (CL0000552)
    Fold Change: 66.8029
    Cell Significance Index: -82.3700
  • Cell Name: CD8-alpha-beta-positive, alpha-beta intraepithelial T cell (CL0000796)
    Fold Change: 28.3404
    Cell Significance Index: -75.9200
  • Cell Name: CD8-positive, alpha-beta regulatory T cell (CL0000795)
    Fold Change: 24.2979
    Cell Significance Index: -74.6300
  • Cell Name: stromal cell of bone marrow (CL0010001)
    Fold Change: 21.1097
    Cell Significance Index: -83.3000
  • Cell Name: epidermal Langerhans cell (CL0002457)
    Fold Change: 17.5456
    Cell Significance Index: -38.4000
  • Cell Name: retinal progenitor cell (CL0002672)
    Fold Change: 3.0461
    Cell Significance Index: 170.9300
  • Cell Name: neoplastic cell (CL0001063)
    Fold Change: 2.6630
    Cell Significance Index: 528.4900
  • Cell Name: microfold cell of epithelium of small intestine (CL1000353)
    Fold Change: 2.6578
    Cell Significance Index: 183.8000
  • Cell Name: L2/3-6 intratelencephalic projecting glutamatergic neuron (CL4023040)
    Fold Change: 2.5176
    Cell Significance Index: 505.0300
  • Cell Name: skeletal muscle fiber (CL0008002)
    Fold Change: 2.3284
    Cell Significance Index: 59.8500
  • Cell Name: cardiac muscle myoblast (CL0000513)
    Fold Change: 2.1843
    Cell Significance Index: 167.6200
  • Cell Name: obsolete caudal ganglionic eminence derived GABAergic cortical interneuron (CL4023070)
    Fold Change: 2.1324
    Cell Significance Index: 764.8600
  • Cell Name: preadipocyte (CL0002334)
    Fold Change: 1.9895
    Cell Significance Index: 38.8300
  • Cell Name: basal epithelial cell of tracheobronchial tree (CL0002329)
    Fold Change: 1.4657
    Cell Significance Index: 40.9600
  • Cell Name: intestinal crypt stem cell of colon (CL0009043)
    Fold Change: 1.3663
    Cell Significance Index: 148.6100
  • Cell Name: GABAergic interneuron (CL0011005)
    Fold Change: 1.3613
    Cell Significance Index: 941.5400
  • Cell Name: tuft cell of colon (CL0009041)
    Fold Change: 1.2927
    Cell Significance Index: 1167.2200
  • Cell Name: indirect pathway medium spiny neuron (CL4023029)
    Fold Change: 1.1340
    Cell Significance Index: 50.1600
  • Cell Name: forebrain neuroblast (CL1000042)
    Fold Change: 1.1070
    Cell Significance Index: 68.0400
  • Cell Name: basal cell of urothelium (CL1000486)
    Fold Change: 1.0662
    Cell Significance Index: 131.1000
  • Cell Name: direct pathway medium spiny neuron (CL4023026)
    Fold Change: 1.0141
    Cell Significance Index: 38.4000
  • Cell Name: hippocampal granule cell (CL0001033)
    Fold Change: 0.9463
    Cell Significance Index: 63.6300
  • Cell Name: intermediate cell of urothelium (CL4030055)
    Fold Change: 0.9452
    Cell Significance Index: 170.3900
  • Cell Name: lung endothelial cell (CL1001567)
    Fold Change: 0.9186
    Cell Significance Index: 47.8500
  • Cell Name: enterocyte of epithelium of small intestine (CL1000334)
    Fold Change: 0.8915
    Cell Significance Index: 25.6900
  • Cell Name: paneth cell of epithelium of small intestine (CL1000343)
    Fold Change: 0.7736
    Cell Significance Index: 16.7600
  • Cell Name: stromal cell of ovary (CL0002132)
    Fold Change: 0.6387
    Cell Significance Index: 87.7100
  • Cell Name: cell in vitro (CL0001034)
    Fold Change: 0.5789
    Cell Significance Index: 316.1300
  • Cell Name: enterocyte of epithelium of large intestine (CL0002071)
    Fold Change: 0.5372
    Cell Significance Index: 24.3500
  • Cell Name: tonsil germinal center B cell (CL2000006)
    Fold Change: 0.4080
    Cell Significance Index: 48.1200
  • Cell Name: early pro-B cell (CL0002046)
    Fold Change: 0.3729
    Cell Significance Index: 24.0600
  • Cell Name: pigmented epithelial cell (CL0000529)
    Fold Change: 0.3654
    Cell Significance Index: 687.9300
  • Cell Name: hair follicular keratinocyte (CL2000092)
    Fold Change: 0.3625
    Cell Significance Index: 160.2900
  • Cell Name: cerebellar granule cell (CL0001031)
    Fold Change: 0.3478
    Cell Significance Index: 5.9600
  • Cell Name: non-pigmented ciliary epithelial cell (CL0002304)
    Fold Change: 0.3155
    Cell Significance Index: 200.3900
  • Cell Name: ciliary muscle cell (CL1000443)
    Fold Change: 0.2861
    Cell Significance Index: 129.8300
  • Cell Name: cortical interneuron (CL0008031)
    Fold Change: 0.2702
    Cell Significance Index: 6.4800
  • Cell Name: lens epithelial cell (CL0002224)
    Fold Change: 0.2197
    Cell Significance Index: 338.2200
  • Cell Name: anterior lens cell (CL0002223)
    Fold Change: 0.1906
    Cell Significance Index: 351.5400
  • Cell Name: small intestine goblet cell (CL1000495)
    Fold Change: 0.1625
    Cell Significance Index: 5.7100
  • Cell Name: epithelial cell of small intestine (CL0002254)
    Fold Change: 0.1487
    Cell Significance Index: 24.1900
  • Cell Name: secondary lens fiber (CL0002225)
    Fold Change: 0.1391
    Cell Significance Index: 189.1300
  • Cell Name: acinar cell of salivary gland (CL0002623)
    Fold Change: 0.0525
    Cell Significance Index: 2.4500
  • Cell Name: pancreatic acinar cell (CL0002064)
    Fold Change: 0.0176
    Cell Significance Index: 3.0000
  • Cell Name: placental villous trophoblast (CL2000060)
    Fold Change: -0.0120
    Cell Significance Index: -0.3200
  • Cell Name: cortical cell of adrenal gland (CL0002097)
    Fold Change: -0.0123
    Cell Significance Index: -0.3300
  • Cell Name: kidney loop of Henle cortical thick ascending limb epithelial cell (CL1001109)
    Fold Change: -0.0217
    Cell Significance Index: -15.9300
  • Cell Name: pancreatic A cell (CL0000171)
    Fold Change: -0.0311
    Cell Significance Index: -23.0400
  • Cell Name: colon goblet cell (CL0009039)
    Fold Change: -0.0641
    Cell Significance Index: -6.3400
  • Cell Name: pancreatic PP cell (CL0002275)
    Fold Change: -0.0666
    Cell Significance Index: -41.5800
  • Cell Name: type B pancreatic cell (CL0000169)
    Fold Change: -0.0842
    Cell Significance Index: -47.4600
  • Cell Name: pulmonary alveolar epithelial cell (CL0000322)
    Fold Change: -0.0949
    Cell Significance Index: -71.8400
  • Cell Name: odontoblast (CL0000060)
    Fold Change: -0.1609
    Cell Significance Index: -20.6300
  • Cell Name: pancreatic D cell (CL0000173)
    Fold Change: -0.2467
    Cell Significance Index: -51.9600
  • Cell Name: leptomeningeal cell (CL0000708)
    Fold Change: -0.2482
    Cell Significance Index: -5.3000
  • Cell Name: dopaminergic neuron (CL0000700)
    Fold Change: -0.2538
    Cell Significance Index: -73.0400
  • Cell Name: pigmented ciliary epithelial cell (CL0002303)
    Fold Change: -0.2614
    Cell Significance Index: -38.0000
  • Cell Name: enteroendocrine cell of colon (CL0009042)
    Fold Change: -0.2619
    Cell Significance Index: -49.8500
  • Cell Name: cardiac endothelial cell (CL0010008)
    Fold Change: -0.2712
    Cell Significance Index: -3.9000
  • Cell Name: hippocampal pyramidal neuron (CL1001571)
    Fold Change: -0.2831
    Cell Significance Index: -8.0800
  • Cell Name: luminal adaptive secretory precursor cell of mammary gland (CL4033057)
    Fold Change: -0.2864
    Cell Significance Index: -13.4600
  • Cell Name: abnormal cell (CL0001061)
    Fold Change: -0.3396
    Cell Significance Index: -34.6900
  • Cell Name: centrilobular region hepatocyte (CL0019029)
    Fold Change: -0.3684
    Cell Significance Index: -6.2100
  • Cell Name: eye photoreceptor cell (CL0000287)
    Fold Change: -0.3840
    Cell Significance Index: -24.2000
  • Cell Name: sebum secreting cell (CL0000317)
    Fold Change: -0.3869
    Cell Significance Index: -27.3600
  • Cell Name: pancreatic endocrine cell (CL0008024)
    Fold Change: -0.4088
    Cell Significance Index: -46.6600
  • Cell Name: lactocyte (CL0002325)
    Fold Change: -0.4266
    Cell Significance Index: -55.1200
  • Cell Name: bladder urothelial cell (CL1001428)
    Fold Change: -0.4458
    Cell Significance Index: -23.1600
  • Cell Name: fibroblast of cardiac tissue (CL0002548)
    Fold Change: -0.4756
    Cell Significance Index: -6.8300
  • Cell Name: smooth muscle cell of sphincter of pupil (CL0002243)
    Fold Change: -0.4830
    Cell Significance Index: -50.2900
  • Cell Name: epithelial cell of stomach (CL0002178)
    Fold Change: -0.5008
    Cell Significance Index: -58.3600
  • Cell Name: pancreatic ductal cell (CL0002079)
    Fold Change: -0.5127
    Cell Significance Index: -58.7400
  • Cell Name: intestinal crypt stem cell of small intestine (CL0009017)
    Fold Change: -0.5372
    Cell Significance Index: -11.4400
  • Cell Name: cardiac muscle cell (CL0000746)
    Fold Change: -0.7295
    Cell Significance Index: -10.7700
  • Cell Name: transit amplifying cell of small intestine (CL0009012)
    Fold Change: -0.7366
    Cell Significance Index: -15.2800
  • Cell Name: progenitor cell of mammary luminal epithelium (CL0009116)
    Fold Change: -0.7371
    Cell Significance Index: -54.9400
  • Cell Name: endothelial cell of placenta (CL0009092)
    Fold Change: -0.8441
    Cell Significance Index: -5.1000
  • Cell Name: kidney loop of Henle descending limb epithelial cell (CL1001021)
    Fold Change: -0.8792
    Cell Significance Index: -69.6300
  • Cell Name: conjunctival epithelial cell (CL1000432)
    Fold Change: -0.9488
    Cell Significance Index: -12.9500
  • Cell Name: glycinergic neuron (CL1001509)
    Fold Change: -1.0146
    Cell Significance Index: -53.2700
  • Cell Name: Purkinje cell (CL0000121)
    Fold Change: -1.0232
    Cell Significance Index: -22.4100
  • Cell Name: type I muscle cell (CL0002211)
    Fold Change: -1.0295
    Cell Significance Index: -25.1200
  • Cell Name: fibroblast of mammary gland (CL0002555)
    Fold Change: -1.0828
    Cell Significance Index: -31.0400
  • Cell Name: periportal region hepatocyte (CL0019026)
    Fold Change: -1.1043
    Cell Significance Index: -16.3000
  • Cell Name: basal cell of prostate epithelium (CL0002341)
    Fold Change: -1.1892
    Cell Significance Index: -32.3700
  • Cell Name: mesenchymal cell (CL0008019)
    Fold Change: -1.2458
    Cell Significance Index: -20.8500
  • Cell Name: helper T cell (CL0000912)
    Fold Change: -1.2576
    Cell Significance Index: -17.8700
  • Cell Name: intestinal tuft cell (CL0019032)
    Fold Change: -1.3219
    Cell Significance Index: -81.0500
  • Cell Name: granulosa cell (CL0000501)
    Fold Change: -1.3227
    Cell Significance Index: -34.7800
  • Cell Name: pvalb GABAergic cortical interneuron (CL4023018)
    Fold Change: -1.3277
    Cell Significance Index: -28.1800
  • Cell Name: enteroendocrine cell of small intestine (CL0009006)
    Fold Change: -1.4090
    Cell Significance Index: -35.2200
  • Cell Name: L6b glutamatergic cortical neuron (CL4023038)
    Fold Change: -1.4969
    Cell Significance Index: -49.0100

Cell ID: Standard Cell Ontology term used for mapping and comparing cells across experiments. Ensures consistency in analyzing cellular functions across tissues.
Fold Change: Represents the ratio of the current Cell Significance Index to the Cell Significance Index Threshold, indicating how much the gene expression has changed compared to a baseline.
Cell Significance Index: Reflects how strongly a gene is expressed in this specific cell.

Cell ID: Standard Cell Ontology term used for mapping and comparing cells across experiments. Ensures consistency in analyzing cellular functions across tissues.
Fold Change: Represents the ratio of the current Cell Significance Index to the Cell Significance Index Threshold, indicating how much the gene expression has changed compared to a baseline.
Cell Significance Index: Reflects how strongly a gene is expressed in this cell type. Calculated using techniques like effect size estimation and bootstrapping for reliability.

Cell ID: Standard Cell Ontology term used for mapping and comparing cells across experiments. Ensures consistency in analyzing cellular functions across tissues.
Fold Change: Represents the ratio of the current Cell Significance Index to the Cell Significance Index Threshold, indicating how much the gene expression has changed compared to a baseline.
Cell Significance Index: Reflects how strongly a gene is expressed in this cell type. Calculated using techniques like effect size estimation and bootstrapping for reliability.

Other Information

**Key Characteristics:** SETD2 is a highly conserved gene that is expressed in nearly all tissues, with highest levels detected in the brain, adrenal gland, and kidneys. It is encoded by a single gene and consists of 14 exons that are highly conserved across species. SETD2 contains a SET domain, a catalytic domain, and a C-terminal coiled-coil domain, which are essential for its enzymatic activity and protein-protein interactions. The protein product of SETD2, SETD2_HUMAN (also known as HIF-1), is a 222-kDa protein that is subject to post-translational modifications, including phosphorylation and ubiquitination. **Pathways and Functions:** SETD2 is involved in multiple signaling pathways, including: 1. **Histone modification**: SETD2 catalyzes the trimethylation of H3K36, which is a key epigenetic mark associated with active transcription and RNA production. 2. **Cell migration**: SETD2 regulates cell migration by modulating the activity of cytoskeletal proteins and signaling pathways involved in cell adhesion and motility. 3. **Angiogenesis**: SETD2 promotes angiogenesis by regulating the expression of pro-angiogenic genes and inhibiting the activity of anti-angiogenic factors. 4. **Embryonic development**: SETD2 is essential for embryonic development, particularly in the formation of the cranial skeleton, neural tube, and coronary vasculature. 5. **Stem cell regulation**: SETD2 regulates stem cell development and differentiation by modulating the expression of stem cell-specific genes and inhibiting the activity of pro-differentiation factors. **Clinical Significance:** Dysregulation of SETD2 has been implicated in various human diseases, including: 1. **Cancer**: SETD2 is frequently overexpressed in various types of cancer, including breast, lung, and prostate cancer, and is associated with poor prognosis and metastasis. 2. **Neurological disorders**: SETD2 has been implicated in neurological disorders, including Alzheimer's disease, Parkinson's disease, and multiple sclerosis. 3. **Cardiovascular disease**: SETD2 is involved in the regulation of cardiovascular development and function, and its dysregulation is associated with cardiovascular disease. In conclusion, SETD2 is a multifaceted gene that plays a critical role in various cellular processes, including histone modification, chromatin organization, and gene regulation. Its dysregulation has been implicated in various human diseases, highlighting the importance of SETD2 in maintaining tissue homeostasis and cellular function.

Genular Protein ID: 4267881969

Symbol: SETD2_HUMAN

Name: HIF-1

UniProtKB Accession Codes:

Q9BYW2 O75397 O75405 Q17RW8 Q5BKS9 Q5QGN2 Q69YI5 Q6IN64 Q6ZN53 Q6ZS25 Q8N3R0 Q8TCN0 Q9C0D1 Q9H696 Q9NZW9

Database IDs:

ABCD 1 AGR 1 AlphaFoldDB 1 Antibodypedia 1 BMRB 1 BRENDA 1 Bgee 1 BindingDB 1 BioCyc 1 BioGRID 1 BioGRID-ORCS 1 BioMuta 1 CCDS 1 CDD 2 CTD 1 ChEBI 32 ChEMBL 1 ChiTaRS 1 DMDM 1 DNASU 1 DisGeNET 1 EC 1 EMBL 19 EMDB 1 Ensembl 1 EvolutionaryTrace 1 ExpressionAtlas 1 GO 42 Gene3D 4 GeneCards 1 GeneReviews 1 GeneTree 1 GeneWiki 1 GenomeRNAi 1 GlyGen 1 HGNC 1 HOGENOM 1 HPA 1 InParanoid 1 IntAct 1 InterPro 11 KEGG 1 MANE-Select 1 MIM 13 MINT 1 MalaCards 1 MassIVE 1 NCBI Taxonomy 1 OGP 1 OMA 1 OpenTargets 1 Orphanet 2 OrthoDB 1 PANTHER 2 PDB 29 PDBsum 29 PRO 1 PROSITE 5 PathwayCommons 1 PaxDb 1 PeptideAtlas 1 Pfam 4 PharmGKB 1 Pharos 1 PhosphoSitePlus 1 PhylomeDB 1 Proteomes 1 ProteomicsDB 3 Pumba 1 RNAct 1 Reactome 1 RefSeq 1 Rhea 9 SIGNOR 1 SMART 4 SMR 1 STRING 1 SUPFAM 2 SignaLink 1 SwissPalm 1 TreeFam 1 UCSC 1 VEuPathDB 1 eggNOG 1 iPTMnet 1 jPOST 1 neXtProt 1

Citations:

PubMed ID: 16641997

Title: The DNA sequence, annotation and analysis of human chromosome 3.

PubMed ID: 16641997

DOI: 10.1038/nature04728

PubMed ID: 14702039

Title: Complete sequencing and characterization of 21,243 full-length human cDNAs.

PubMed ID: 14702039

DOI: 10.1038/ng1285

PubMed ID: 17974005

Title: The full-ORF clone resource of the German cDNA consortium.

PubMed ID: 17974005

DOI: 10.1186/1471-2164-8-399

PubMed ID: 11461154

Title: Identification of the full-length huntingtin-interacting protein p231HBP/HYPB as a DNA-binding factor.

PubMed ID: 11461154

DOI: 10.1006/mcne.2001.1004

PubMed ID: 15489334

Title: The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).

PubMed ID: 15489334

DOI: 10.1101/gr.2596504

PubMed ID: 16118227

Title: Identification and characterization of a novel human histone H3 lysine 36 specific methyltransferase.

PubMed ID: 16118227

DOI: 10.1074/jbc.m504012200

PubMed ID: 11214970

Title: 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.

PubMed ID: 11214970

DOI: 10.1093/dnares/7.6.347

PubMed ID: 12168954

Title: Construction of expression-ready cDNA clones for KIAA genes: manual curation of 330 KIAA cDNA clones.

PubMed ID: 12168954

DOI: 10.1093/dnares/9.3.99

PubMed ID: 11042152

Title: Cloning and functional analysis of cDNAs with open reading frames for 300 previously undefined genes expressed in CD34+ hematopoietic stem/progenitor cells.

PubMed ID: 11042152

DOI: 10.1101/gr.140200

PubMed ID: 9700202

Title: Huntingtin interacts with a family of WW domain proteins.

PubMed ID: 9700202

DOI: 10.1093/hmg/7.9.1463

PubMed ID: 10958656

Title: Huntingtin's WW domain partners in Huntington's disease post-mortem brain fulfill genetic criteria for direct involvement in Huntington's disease pathogenesis.

PubMed ID: 10958656

DOI: 10.1093/hmg/9.14.2175

PubMed ID: 17081983

Title: Global, in vivo, and site-specific phosphorylation dynamics in signaling networks.

PubMed ID: 17081983

DOI: 10.1016/j.cell.2006.09.026

PubMed ID: 18585004

Title: Histone methyltransferase protein SETD2 interacts with p53 and selectively regulates its downstream genes.

PubMed ID: 18585004

DOI: 10.1016/j.cellsig.2008.05.012

PubMed ID: 19141475

Title: The Iws1:Spt6:CTD complex controls cotranscriptional mRNA biosynthesis and HYPB/Setd2-mediated histone H3K36 methylation.

PubMed ID: 19141475

DOI: 10.1101/gad.1720008

PubMed ID: 18220336

Title: Combining protein-based IMAC, peptide-based IMAC, and MudPIT for efficient phosphoproteomic analysis.

PubMed ID: 18220336

DOI: 10.1021/pr0705441

PubMed ID: 18669648

Title: A quantitative atlas of mitotic phosphorylation.

PubMed ID: 18669648

DOI: 10.1073/pnas.0805139105

PubMed ID: 19413330

Title: Lys-N and trypsin cover complementary parts of the phosphoproteome in a refined SCX-based approach.

PubMed ID: 19413330

DOI: 10.1021/ac9004309

PubMed ID: 19332550

Title: Heterogeneous nuclear ribonucleoprotein L is a subunit of human KMT3a/Set2 complex required for H3 Lys-36 trimethylation activity in vivo.

PubMed ID: 19332550

DOI: 10.1074/jbc.m808431200

PubMed ID: 19690332

Title: Quantitative phosphoproteomic analysis of T cell receptor signaling reveals system-wide modulation of protein-protein interactions.

PubMed ID: 19690332

DOI: 10.1126/scisignal.2000007

PubMed ID: 20054297

Title: Systematic sequencing of renal carcinoma reveals inactivation of histone modifying genes.

PubMed ID: 20054297

DOI: 10.1038/nature08672

PubMed ID: 20068231

Title: Quantitative phosphoproteomics reveals widespread full phosphorylation site occupancy during mitosis.

PubMed ID: 20068231

DOI: 10.1126/scisignal.2000475

PubMed ID: 21792193

Title: Splicing enhances recruitment of methyltransferase HYPB/Setd2 and methylation of histone H3 Lys36.

PubMed ID: 21792193

DOI: 10.1038/nsmb.2123

PubMed ID: 21526191

Title: Relationship between gene body DNA methylation and intragenic H3K9me3 and H3K36me3 chromatin marks.

PubMed ID: 21526191

DOI: 10.1371/journal.pone.0018844

PubMed ID: 21406692

Title: System-wide temporal characterization of the proteome and phosphoproteome of human embryonic stem cell differentiation.

PubMed ID: 21406692

DOI: 10.1126/scisignal.2001570

PubMed ID: 23160955

Title: Multiplex targeted sequencing identifies recurrently mutated genes in autism spectrum disorders.

PubMed ID: 23160955

DOI: 10.1126/science.1227764

PubMed ID: 23622243

Title: The histone mark H3K36me3 regulates human DNA mismatch repair through its interaction with MutSalpha.

PubMed ID: 23622243

DOI: 10.1016/j.cell.2013.03.025

PubMed ID: 23186163

Title: Toward a comprehensive characterization of a human cancer cell phosphoproteome.

PubMed ID: 23186163

DOI: 10.1021/pr300630k

PubMed ID: 23792563

Title: Comprehensive molecular characterization of clear cell renal cell carcinoma.

PubMed ID: 23792563

DOI: 10.1038/nature12222

PubMed ID: 23325844

Title: Histone methyltransferase SETD2 coordinates FACT recruitment with nucleosome dynamics during transcription.

PubMed ID: 23325844

DOI: 10.1093/nar/gks1472

PubMed ID: 24843002

Title: SETD2 is required for DNA double-strand break repair and activation of the p53-mediated checkpoint.

PubMed ID: 24843002

DOI: 10.7554/elife.02482

PubMed ID: 24275569

Title: An enzyme assisted RP-RPLC approach for in-depth analysis of human liver phosphoproteome.

PubMed ID: 24275569

DOI: 10.1016/j.jprot.2013.11.014

PubMed ID: 24662245

Title: Mutations in epigenetic regulators including SETD2 are gained during relapse in paediatric acute lymphoblastic leukaemia.

PubMed ID: 24662245

DOI: 10.1038/ncomms4469

PubMed ID: 24509477

Title: Identification of functional cooperative mutations of SETD2 in human acute leukemia.

PubMed ID: 24509477

DOI: 10.1038/ng.2894

PubMed ID: 26084711

Title: SETD2 mutation in a child with autism, intellectual disabilities and epilepsy.

PubMed ID: 26084711

DOI: 10.1007/s10803-015-2484-8

PubMed ID: 25755297

Title: System-wide analysis of SUMOylation dynamics in response to replication stress reveals novel small ubiquitin-like modified target proteins and acceptor lysines relevant for genome stability.

PubMed ID: 25755297

DOI: 10.1074/mcp.o114.044792

PubMed ID: 25728682

Title: SETD2 loss-of-function promotes renal cancer branched evolution through replication stress and impaired DNA repair.

PubMed ID: 25728682

DOI: 10.1038/onc.2015.24

PubMed ID: 27518565

Title: Dual chromatin and cytoskeletal remodeling by SETD2.

PubMed ID: 27518565

DOI: 10.1016/j.cell.2016.07.005

PubMed ID: 27317772

Title: SETD2 and DNMT3A screen in the Sotos-like syndrome French cohort.

PubMed ID: 27317772

DOI: 10.1136/jmedgenet-2015-103638

PubMed ID: 28753426

Title: Methyltransferase SETD2-mediated methylation of STAT1 is critical for interferon antiviral activity.

PubMed ID: 28753426

DOI: 10.1016/j.cell.2017.06.042

PubMed ID: 28112733

Title: Site-specific mapping of the human SUMO proteome reveals co-modification with phosphorylation.

PubMed ID: 28112733

DOI: 10.1038/nsmb.3366

PubMed ID: 36537238

Title: CHD8 suppression impacts on histone H3 lysine 36 trimethylation and alters RNA alternative splicing.

PubMed ID: 36537238

DOI: 10.1093/nar/gkac1134

PubMed ID: 16314571

Title: Solution structure of the Set2-Rpb1 interacting domain of human Set2 and its interaction with the hyperphosphorylated C-terminal domain of Rpb1.

PubMed ID: 16314571

DOI: 10.1073/pnas.0506350102

PubMed ID: 23043551

Title: Sinefungin derivatives as inhibitors and structure probes of protein lysine methyltransferase SETD2.

PubMed ID: 23043551

DOI: 10.1021/ja307060p

PubMed ID: 27474439

Title: Molecular basis for oncohistone H3 recognition by SETD2 methyltransferase.

PubMed ID: 27474439

DOI: 10.1101/gad.284323.116

PubMed ID: 28256625

Title: Molecular basis for the role of oncogenic histone mutations in modulating H3K36 methylation.

PubMed ID: 28256625

DOI: 10.1038/srep43906

PubMed ID: 24852293

Title: Mutations in SETD2 cause a novel overgrowth condition.

PubMed ID: 24852293

DOI: 10.1136/jmedgenet-2014-102402

PubMed ID: 26637798

Title: Targeted DNA Sequencing from Autism Spectrum Disorder Brains Implicates Multiple Genetic Mechanisms.

PubMed ID: 26637798

DOI: 10.1016/j.neuron.2015.11.009

PubMed ID: 32710489

Title: Genotype-phenotype correlation at codon 1740 of SETD2.

PubMed ID: 32710489

DOI: 10.1002/ajmg.a.61724

Sequence Information:

  • Length: 2564
  • Mass: 287597
  • Checksum: 2B1BAE5867AB8EAB
  • Sequence:
    • MKQLQPQPPP KMGDFYDPEH PTPEEEENEA KIENVQKTGF IKGPMFKGVA SSRFLPKGTK 
TKVNLEEQGR QKVSFSFSLT KKTLQNRFLT ALGNEKQSDT PNPPAVPLQV DSTPKMKMEI 
GDTLSTAEES SPPKSRVELG KIHFKKHLLH VTSRPLLATT TAVASPPTHA APLPAVIAES 
TTVDSPPSSP PPPPPPAQAT TLSSPAPVTE PVALPHTPIT VLMAAPVPLP VDVAVRSLKE 
PPIIIVPESL EADTKQDTIS NSLEEHVTQI LNEQADISSK KEDSHIGKDE EIPDSSKISL 
SCKKTGSKKK SSQSEGIFLG SESDEDSVRT SSSQRSHDLK FSASIEKERD FKKSSAPLKS 
EDLGKPSRSK TDRDDKYFSY SKLERDTRYV SSRCRSERER RRSRSHSRSE RGSRTNLSYS 
RSERSHYYDS DRRYHRSSPY RERTRYSRPY TDNRARESSD SEEEYKKTYS RRTSSHSSSY 
RDLRTSSYSK SDRDCKTETS YLEMERRGKY SSKLERESKR TSENEAIKRC CSPPNELGFR 
RGSSYSKHDS SASRYKSTLS KPIPKSDKFK NSFCCTELNE EIKQSHSFSL QTPCSKGSEL 
RMINKNPERE KAGSPAPSNR LNDSPTLKKL DELPIFKSEF ITHDSHDSIK ELDSLSKVKN 
DQLRSFCPIE LNINGSPGAE SDLATFCTSK TDAVLMTSDD SVTGSELSPL VKACMLSSNG 
FQNISRCKEK DLDDTCMLHK KSESPFRETE PLVSPHQDKL MSMPVMTVDY SKTVVKEPVD 
TRVSCCKTKD SDIYCTLNDS NPSLCNSEAE NIEPSVMKIS SNSFMNVHLE SKPVICDSRN 
LTDHSKFACE EYKQSIGSTS SASVNHFDDL YQPIGSSGIA SSLQSLPPGI KVDSLTLLKC 
GENTSPVLDA VLKSKKSSEF LKHAGKETIV EVGSDLPDSG KGFASRENRR NNGLSGKCLQ 
EAQEEGNSIL PERRGRPEIS LDERGEGGHV HTSDDSEVVF SSCDLNLTME DSDGVTYALK 
CDSSGHAPEI VSTVHEDYSG SSESSNDESD SEDTDSDDSS IPRNRLQSVV VVPKNSTLPM 
EETSPCSSRS SQSYRHYSDH WEDERLESRR HLYEEKFESI ASKACPQTDK FFLHKGTEKN 
PEISFTQSSR KQIDNRLPEL SHPQSDGVDS TSHTDVKSDP LGHPNSEETV KAKIPSRQQE 
ELPIYSSDFE DVPNKSWQQT TFQNRPDSRL GKTELSFSSS CEIPHVDGLH SSEELRNLGW 
DFSQEKPSTT YQQPDSSYGA CGGHKYQQNA EQYGGTRDYW QGNGYWDPRS GRPPGTGVVY 
DRTQGQVPDS LTDDREEEEN WDQQDGSHFS DQSDKFLLSL QKDKGSVQAP EISSNSIKDT 
LAVNEKKDFS KNLEKNDIKD RGPLKKRRQE IESDSESDGE LQDRKKVRVE VEQGETSVPP 
GSALVGPSCV MDDFRDPQRW KECAKQGKMP CYFDLIEENV YLTERKKNKS HRDIKRMQCE 
CTPLSKDERA QGEIACGEDC LNRLLMIECS SRCPNGDYCS NRRFQRKQHA DVEVILTEKK 
GWGLRAAKDL PSNTFVLEYC GEVLDHKEFK ARVKEYARNK NIHYYFMALK NDEIIDATQK 
GNCSRFMNHS CEPNCETQKW TVNGQLRVGF FTTKLVPSGS ELTFDYQFQR YGKEAQKCFC 
GSANCRGYLG GENRVSIRAA GGKMKKERSR KKDSVDGELE ALMENGEGLS DKNQVLSLSR 
LMVRIETLEQ KLTCLELIQN THSQSCLKSF LERHGLSLLW IWMAELGDGR ESNQKLQEEI 
IKTLEHLPIP TKNMLEESKV LPIIQRWSQT KTAVPPLSEG DGYSSENTSR AHTPLNTPDP 
STKLSTEADT DTPKKLMFRR LKIISENSMD SAISDATSEL EGKDGKEDLD QLENVPVEEE 
EELQSQQLLP QQLPECKVDS ETNIEASKLP TSEPEADAEI EPKESNGTKL EEPINEETPS 
QDEEEGVSDV ESERSQEQPD KTVDISDLAT KLLDSWKDLK EVYRIPKKSQ TEKENTTTER 
GRDAVGFRDQ TPAPKTPNRS RERDPDKQTQ NKEKRKRRSS LSPPSSAYER GTKRPDDRYD 
TPTSKKKVRI KDRNKLSTEE RRKLFEQEVA QREAQKQQQQ MQNLGMTSPL PYDSLGYNAP 
HHPFAGYPPG YPMQAYVDPS NPNAGKVLLP TPSMDPVCSP APYDHAQPLV GHSTEPLSAP 
PPVPVVPHVA APVEVSSSQY VAQSDGVVHQ DSSVAVLPVP APGPVQGQNY SVWDSNQQSV 
SVQQQYSPAQ SQATIYYQGQ TCPTVYGVTS PYSQTTPPIV QSYAQPSLQY IQGQQIFTAH 
PQGVVVQPAA AVTTIVAPGQ PQPLQPSEMV VTNNLLDLPP PSPPKPKTIV LPPNWKTARD 
PEGKIYYYHV ITRQTQWDPP TWESPGDDAS LEHEAEMDLG TPTYDENPMK ASKKPKTAEA 
DTSSELAKKS KEVFRKEMSQ FIVQCLNPYR KPDCKVGRIT TTEDFKHLAR KLTHGVMNKE 
LKYCKNPEDL ECNENVKHKT KEYIKKYMQK FGAVYKPKED TELE

Database document:

This is a preview of the gene's schema. Only a few entries are kept for 'singleCellExpressions,' 'mRNAExpressions,' and other large data arrays for visualization purposes. You can zoom in with the mouse wheel for a closer view, and the text will adjust automatically if necessary. For the full schema, download it here.