Name | Number of supported studies | Average coverage | |
---|---|---|---|
brain | 17 studies | 42% ± 21% | |
lung | 9 studies | 26% ± 9% | |
peripheral blood | 6 studies | 25% ± 5% | |
eye | 5 studies | 37% ± 16% | |
bone marrow | 4 studies | 22% ± 7% | |
heart | 4 studies | 31% ± 7% | |
adipose | 4 studies | 32% ± 11% | |
liver | 3 studies | 41% ± 17% | |
intestine | 3 studies | 19% ± 1% | |
kidney | 3 studies | 34% ± 6% |
Tissue | GTEx Coverage | GTEx Average TPM | GTEx Number of samples | TCGA Coverage | TCGA Average TPM | TCGA Number of samples |
---|---|---|---|---|---|---|
esophagus | 100% | 5507.89 | 1445 / 1445 | 100% | 34.04 | 183 / 183 |
prostate | 100% | 5825.74 | 245 / 245 | 100% | 32.45 | 502 / 502 |
ovary | 100% | 6855.99 | 180 / 180 | 100% | 20.95 | 429 / 430 |
breast | 100% | 6152.65 | 459 / 459 | 100% | 36.47 | 1115 / 1118 |
intestine | 100% | 6611.75 | 966 / 966 | 100% | 23.80 | 525 / 527 |
bladder | 100% | 5890.33 | 21 / 21 | 100% | 23.96 | 502 / 504 |
brain | 100% | 3936.99 | 2629 / 2642 | 100% | 29.32 | 705 / 705 |
thymus | 100% | 7332.17 | 653 / 653 | 100% | 33.35 | 602 / 605 |
lung | 100% | 5788.39 | 578 / 578 | 99% | 22.74 | 1146 / 1155 |
pancreas | 100% | 3264.71 | 328 / 328 | 99% | 24.93 | 176 / 178 |
uterus | 100% | 6973.00 | 170 / 170 | 99% | 26.50 | 453 / 459 |
stomach | 100% | 4471.37 | 359 / 359 | 99% | 27.11 | 282 / 286 |
kidney | 100% | 4414.35 | 89 / 89 | 97% | 19.35 | 871 / 901 |
skin | 100% | 6669.24 | 1809 / 1809 | 96% | 24.29 | 455 / 472 |
adrenal gland | 100% | 4726.32 | 258 / 258 | 96% | 15.88 | 220 / 230 |
liver | 100% | 2872.50 | 226 / 226 | 94% | 14.76 | 382 / 406 |
adipose | 100% | 5875.82 | 1204 / 1204 | 0% | 0 | 0 / 0 |
blood vessel | 100% | 5994.01 | 1335 / 1335 | 0% | 0 | 0 / 0 |
lymph node | 0% | 0 | 0 / 0 | 100% | 28.68 | 29 / 29 |
muscle | 100% | 5647.93 | 803 / 803 | 0% | 0 | 0 / 0 |
spleen | 100% | 5664.49 | 241 / 241 | 0% | 0 | 0 / 0 |
tonsil | 0% | 0 | 0 / 0 | 100% | 25.92 | 45 / 45 |
ureter | 0% | 0 | 0 / 0 | 100% | 12.34 | 1 / 1 |
heart | 97% | 2832.00 | 836 / 861 | 0% | 0 | 0 / 0 |
peripheral blood | 95% | 4095.39 | 887 / 929 | 0% | 0 | 0 / 0 |
eye | 0% | 0 | 0 / 0 | 74% | 8.85 | 59 / 80 |
abdomen | 0% | 0 | 0 / 0 | 0% | 0 | 0 / 0 |
bone marrow | 0% | 0 | 0 / 0 | 0% | 0 | 0 / 0 |
diaphragm | 0% | 0 | 0 / 0 | 0% | 0 | 0 / 0 |
gingiva | 0% | 0 | 0 / 0 | 0% | 0 | 0 / 0 |
nasal cavity | 0% | 0 | 0 / 0 | 0% | 0 | 0 / 0 |
nasopharynx | 0% | 0 | 0 / 0 | 0% | 0 | 0 / 0 |
nose | 0% | 0 | 0 / 0 | 0% | 0 | 0 / 0 |
placenta | 0% | 0 | 0 / 0 | 0% | 0 | 0 / 0 |
spinal column | 0% | 0 | 0 / 0 | 0% | 0 | 0 / 0 |
GO_0010569 | Biological process | regulation of double-strand break repair via homologous recombination |
GO_0010793 | Biological process | regulation of mRNA export from nucleus |
GO_0001525 | Biological process | angiogenesis |
GO_0010468 | Biological process | regulation of gene expression |
GO_1902850 | Biological process | microtubule cytoskeleton organization involved in mitosis |
GO_0010038 | Biological process | response to metal ion |
GO_0035441 | Biological process | cell migration involved in vasculogenesis |
GO_0060039 | Biological process | pericardium development |
GO_0030900 | Biological process | forebrain development |
GO_0051607 | Biological process | defense response to virus |
GO_0060669 | Biological process | embryonic placenta morphogenesis |
GO_0043279 | Biological process | response to alkaloid |
GO_0006368 | Biological process | transcription elongation by RNA polymerase II |
GO_0035987 | Biological process | endodermal cell differentiation |
GO_0014070 | Biological process | response to organic cyclic compound |
GO_0048864 | Biological process | stem cell development |
GO_0032727 | Biological process | positive regulation of interferon-alpha production |
GO_0048332 | Biological process | mesoderm morphogenesis |
GO_0001763 | Biological process | morphogenesis of a branching structure |
GO_0010508 | Biological process | positive regulation of autophagy |
GO_0006355 | Biological process | regulation of DNA-templated transcription |
GO_0001843 | Biological process | neural tube closure |
GO_0048701 | Biological process | embryonic cranial skeleton morphogenesis |
GO_0048863 | Biological process | stem cell differentiation |
GO_0006298 | Biological process | mismatch repair |
GO_0034728 | Biological process | nucleosome organization |
GO_0045778 | Biological process | positive regulation of ossification |
GO_0018023 | Biological process | peptidyl-lysine trimethylation |
GO_1905634 | Biological process | regulation of protein localization to chromatin |
GO_0034340 | Biological process | response to type I interferon |
GO_0032465 | Biological process | regulation of cytokinesis |
GO_0060977 | Biological process | coronary vasculature morphogenesis |
GO_0005654 | Cellular component | nucleoplasm |
GO_0005737 | Cellular component | cytoplasm |
GO_0005694 | Cellular component | chromosome |
GO_0005634 | Cellular component | nucleus |
GO_0140955 | Molecular function | histone H3K36 trimethyltransferase activity |
GO_0043014 | Molecular function | alpha-tubulin binding |
GO_0016279 | Molecular function | protein-lysine N-methyltransferase activity |
GO_0046872 | Molecular function | metal ion binding |
GO_0140938 | Molecular function | histone H3 methyltransferase activity |
GO_0046975 | Molecular function | histone H3K36 methyltransferase activity |
GO_0005515 | Molecular function | protein binding |
Gene name | SETD2 |
Protein name | SET domain containing 2, histone lysine methyltransferase [histone H3]-lysine(36) N-trimethyltransferase (EC 2.1.1.359) (SET domain-containing protein 2) Histone-lysine N-methyltransferase SETD2 (EC 2.1.1.359) (HIF-1) (Huntingtin yeast partner B) (Huntingtin-interacting protein 1) (HIP-1) (Huntingtin-interacting protein B) (Lysine N-methyltransferase 3A) (Protein-lysine N-methyltransferase SETD2) (EC 2.1.1.-) (SET domain-containing protein 2) (hSET2) (p231HBP) |
Synonyms | HYPB KMT3A KIAA1732 HSPC069 HIF1 SET2 |
Description | FUNCTION: Histone methyltransferase that specifically trimethylates 'Lys-36' of histone H3 (H3K36me3) using dimethylated 'Lys-36' (H3K36me2) as substrate . It is capable of trimethylating unmethylated H3K36 (H3K36me0) in vitro . Represents the main enzyme generating H3K36me3, a specific tag for epigenetic transcriptional activation (By similarity). Plays a role in chromatin structure modulation during elongation by coordinating recruitment of the FACT complex and by interacting with hyperphosphorylated POLR2A . Acts as a key regulator of DNA mismatch repair in G1 and early S phase by generating H3K36me3, a mark required to recruit MSH6 subunit of the MutS alpha complex: early recruitment of the MutS alpha complex to chromatin to be replicated allows a quick identification of mismatch DNA to initiate the mismatch repair reaction . Required for DNA double-strand break repair in response to DNA damage: acts by mediating formation of H3K36me3, promoting recruitment of RAD51 and DNA repair via homologous recombination (HR) . Acts as a tumor suppressor . H3K36me3 also plays an essential role in the maintenance of a heterochromatic state, by recruiting DNA methyltransferase DNMT3A . H3K36me3 is also enhanced in intron-containing genes, suggesting that SETD2 recruitment is enhanced by splicing and that splicing is coupled to recruitment of elongating RNA polymerase . Required during angiogenesis (By similarity). Required for endoderm development by promoting embryonic stem cell differentiation toward endoderm: acts by mediating formation of H3K36me3 in distal promoter regions of FGFR3, leading to regulate transcription initiation of FGFR3 (By similarity). In addition to histones, also mediates methylation of other proteins, such as tubulins and STAT1 . Trimethylates 'Lys-40' of alpha-tubulins such as TUBA1B (alpha-TubK40me3); alpha-TubK40me3 is required for normal mitosis and cytokinesis and may be a specific tag in cytoskeletal remodeling . Involved in interferon-alpha-induced antiviral defense by mediating both monomethylation of STAT1 at 'Lys-525' and catalyzing H3K36me3 on promoters of some interferon-stimulated genes (ISGs) to activate gene transcription . .; FUNCTION: (Microbial infection) Recruited to the promoters of adenovirus 12 E1A gene in case of infection, possibly leading to regulate its expression. . |
Accessions | ENST00000690157.1 H7C3H4 ENST00000409792.4 [Q9BYW2-1] ENST00000685505.1 ENST00000686876.1 H7BZ93 A0A8I5KV15 A0A8I5KSB8 A0A8I5KQS3 ENST00000693321.1 A0A8I5KNR2 ENST00000638947.2 ENST00000445387.5 H7BXT4 ENST00000685399.1 ENST00000692883.1 ENST00000431180.5 A0A8I5KYR1 ENST00000412450.1 ENST00000688290.1 ENST00000691902.1 ENST00000686773.1 ENST00000685005.1 A0A8I5QJW6 Q9BYW2 A0A8I5KPS6 ENST00000330022.11 A0A8I5KWD0 C9JG86 A0A1W2PPX9 A0A8I5KW81 ENST00000690461.1 ENST00000691544.1 |