Table 1.
KMTs, KDMs and histones mutations and single nucleotide polymorphism (SNP) observed in diseases.
| Protein | Mutation | SNP | |
|---|---|---|---|
| KMTs | KMT1B/SUV39H2 | Diabetes, lung cancer | |
| KMT1C/G9a/EHMT2 | Breast cancer, chronic hepatitis B, colorectal cancer | ||
| KMT1D/GLP/EHMT1 | Kleefstra syndrome, ganglioglioma | Beast cancer | |
| KMT1E/SETDB1 | Autism, plausible candidate gene for melanoma susceptibility | ||
| KMT2A / MLL | Gastric adenocarcinoma, liver cancer, bladder cancer, MM, AML, HCC | ALL | |
| KMT2B/MLL2* | HCC, OSCC, bladder urothelial carcinoma, breast adenocarcinoma, colon and rectal carcinoma, GBM, HNSCC, ccRCC, lung adenocarcinoma and SCC, ovarian serous carcinoma, uterine corpus endometrial carcinoma | ||
| KMT2C / MLL3 | Kleefstra syndrome, MB, AML, colorectal cancer, gastric adenocarcinoma, liver cancer, bladder cancer, bile duct cancer, highly agressive tumors, pancreatic cancer, breast cancer, glioblastoma, HNSCC, ccRCC, lung adenocarcinoma and SCC, ovarian serous carcinoma, uterine corpus endometrial carcinoma, adenoid cystic carcinoma, prostate cancer, MM, HCC | Breast cancer, gastric cancer | |
| KMT2D/MLL4* | Kabuki syndrome, MB, MDS, CLL, prostate cancer, CRPC, bladder cancer, DLBCL, ETP-ALL, FL, MCL, ccRCC, AML, breast adenocarcinoma, colon and rectal carcinoma, GBM, HNSCC, lung adenocarcinoma and SCC, ovarian serous carcinoma, uterine corpus endometrial carcinoma, childhood B-cell ALL, MM, HCC, OSCC | ||
| KMT2E/MLL5 | CRPC, breast cancer | ||
| KMT2F/SETD1A | Gastric adenocarcinoma | ||
| KMT2G/SETD1B | CRPC | ||
| KMT2H/ASH1L | Lung cancer (cell lines), CRPC, high grade glioma | ||
| KMT3A/SETD2 | Renal carcinoma, high-grade gliomas, ccRCC, ETP-ALL, synovial sarcoma, bladder urothelial carcinoma, breast adenocarcinoma, colon and rectal carcinoma, GBM, HNSCC, AML, lung adenocarcinoma and SCC, ovarian serous carcinoma, uterine corpus endometrial carcinoma | ||
| KMT3B / NSD1 | AML, Sotos syndrome, Weaver syndrome, Beckwith-Wiedemann syndrome, ALL, bladder urothelial carcinoma, breast adenocarcinoma, colon and rectal carcinoma, GBM, HNSCC, ccRCC, lung adenocarcinoma and SCC, ovarian serous carcinoma, uterine corpus endometrial carcinoma, OSCC | ||
| KMT3E/SMYD3 | colorectal cancer, breast cancer, HCC, NSCLC, ESCC | ||
| KMT3F/WHSC1L1 / NSD3 | MM | ||
| KMT3G / WHSC1 / NSD2 / MMSET | MCL, MM, pediatric ALL, low grade glioma | ||
| KMT4 / DOT1L | Osteoarthritis of the hip, adolescent idiopathic scoliosis and pubertal height velocity | ||
| KMT6 / EZH2 | Prostate cancer, DLBCL, FL, myelofibrosis, myeloid malignancies, T-ALL, HCC, MDS, CLL, AML, ETP-ALL, CMML, Weaver syndrome, bladder urothelial carcinoma, breast adenocarcinoma, GBM, HNSCC, ccRCC, lung adenocarcinoma and SCC, uterine corpus endometrial carcinoma | Cholangiocarcinoma, colorectal cancer, HCC, lung cancer, metastatic colorectal cancer | |
| KMT8A/PRDM2/RIZ1 # | Gastric carcinoma, endometrial carcinoma, colorectal carcinoma, pancreatic cancer, DLBCL | Breast cancer, leukemia, bone mineral density, lung cancer, Parkinson’s disease | |
| KMT8B/PRDM9 | Lung cancer (cell lines) | ||
| KDMs | KDM1A/LSD1 | Lymphoblastic leukemia, medulloblastoma | |
| KDM2B/FBXL10 | Gastric adenocarcinoma | ||
| KDM3A / JHDM2A / JMJD1A | MB | ||
| KDM3C/JMJD1C | Juvenile idiopathic arthritis | ||
| KDM4A/JMJD2A | Breast cancer | ||
| KDM4B/JMJD2B | Lung cancer (cell lines) | ||
| KDM4C/JMJD2C | MB | Autism spectrum disorders, esophageal cancer | |
| KDM5A/JARID1A# | MB, AML | Ankylosing spondylitis | |
| KDM5B/JARID1B/PLU1 | MB, breast cancer | ||
| KDM5C/JARID1C/SMCX | Renal carcinoma, ccRCC, autism spectrum disorder, X-linked mental retardation, bladder urothelial carcinoma, breast adenocarcinoma, colon and rectal carcinoma, GBM, HNSCC, lung adenocarcinoma and SCC, ovarian serous carcinoma, uterine corpus endometrial carcinoma, OSCC, high grade glioma | ||
| KDM6A / UTX | lung cancer (cell lines), Leukemia, Kabuki syndrome, MB, prostate cancer, bladder cancer, renal carcinoma, ccRCC, adenoid cystic carcinoma, urothelial carcinoma, CMML, AML, MM, ESCC, SCLC, T-ALL, colorectal adenocarcinoma, endometrial adenocarcinoma, glioblastoma, NSCLC, breast adenocarcinoma, HNSCC, uterine corpus endometrial carcinoma, childhood B-cell ALL, CRPC | Graves’ disease | |
| KDM6B/JMJD3 | MB, near haploid lymphoblastic leukemia | ||
| KDM7A/ JHDM1D / KIAA1718 | MB | ||
| KDM7B/PHF8 | X-linked mental retardation | ||
| Histones | H1.2 | Bladder urothelial carcinoma, breast adenocarcinoma, colon and rectal carcinoma, GBM, HNSCC, ccRCC, lung adenocarcinoma and SCC, ovarian serous carcinoma, NHLs, DLBCL | |
| H1.3 | DLBCL | ||
| H1.4 | Adenoid cystic carcinomas, DLBCL | ||
| H2A.1 | Adenoid cystic carcinomas, DLBCL | ||
| H3.1 | Paediatric diffuse intrinsic pontine gliomas, non- brainstem paediatric glioblastomas, DLBCL, OSCC, osteosarcoma | ||
| H3.3 | Childhood ALL, paediatric diffuse intrinsic pontine gliomas and non-Brainstem glioblastomas, anasplastic astrocytomas, high-grade thalamic gliomas from young adults, osteosarcoma, chondrosarcoma, giant cell tumor of bone, chondroblastoma | ||
| H3.5 | GBM, HNSCC, lung adenocarcinoma and SCC, uterine corpus endometrial carcinoma | ||
| H4 | DLBCL, HCC |
Abbreviations: AML (Acute Myeloid Leukemia), ccRCC (clear cell Renal Cell Carcinoma), CLL (Chronic Lymphocytic Leukemia), CML (Chronic Myeloid Leukemia), CMML (Chronic Myelomonocytic Leukemia), CRPC (Castrate Resistant Prostate Cancer), DLBCL (Diffuse Large B Cell Lynphoma), ESCC (Esophageal Squamous Cell Carcinoma), ETP-ALL (Early T-cell Precursor Acute Lymphoblastic Leukemia), FL (Follicular Lymphoma), GBM (glioblastoma multiforme), HCC (Hepatocellular Carcinoma), HNSCC (Head and Neck Squamous Cell Carcinoma), MB (Medulloblastoma), MCL (Mantle Cell Lymphoma), MDS (myelodysplastic syndrome), MM (Multiple Myeloma), NHLs (Non Hodgkin’s Lymphoma), NSCLC (Non Small Cell Lung Cancer), OSCC (Oral Squamous Cell Carcinoma), SCLC (Small Cell Lung Cancer), SCC (Squamous Cell Carcinoma).
KMT2B/MLL2 gene ID 9757 is located on chromosome 19, KMT2D/MLL4 gene ID 8085 is located on chromosome 12;
indicates coding SNP. This table is illustrative of variants observed in the literature and might not be fully inclusive. We apologize to all those whose work we could not depict or cite due to space limitation.