Cancer Protein Description
This report provides a detailed description of a selected cancer protein with information collected from various sources, including UniProt, the Wellcome Trust Sanger Institute’s Catalogue of Somatic Mutations in Cancer (COSMIC), and the Atlas of Genetics and Cytogenetics in Oncology and Haematology.
| Protein Name: | MLL2 |
| Gene Name: | MLL2 |
| Protein Full Name: | Histone-lysine N-methyltransferase MLL2 |
| Alias: | ALL1-related protein; ALR; CAGL114; KMT2B; Lysine N-methyltransferase 2B; MLL4; Myeloid/lymphoid or mixed-lineage leukemia 2; Myeloid/lymphoid or mixed-lineage leukemia protein 2; TNRC21 |
| Mass (Da): | 564185 |
| Number AA: | 5262 |
| UniProt ID: | O14686 |
| Locus ID: | 8085 |
| COSMIC ID: | MLL2 |
| Gene location on chromosome: | 12q13.12 |
| Cancer protein type: | UNCLEAR |
| Effect of cancer mutation on protein: | UNCLEAR |
| Effect of active protein on cancer: | UNCLEAR |
| Number of cancer specimens: | 19777 |
| Percent of cancer specimens with mutations: | 4.76 |
| General distribution of mutations: | Multi-site |
| Location of most mutations: | Broad distribution of mutation sites with point mutations, insertions and deletions, but no complex mutations over entire protein length. |
| Normal role description: | MLL2 is a histone methyltransferase specific to lysine-4 of histone H3. MLL2 has a role in epigenetic modifications of genes to induce or repress transcription by effecting the methylation state of histones. MLL2 can be recruited to target genes by transcription coactivators like the estrogen receptor to facilitate transcriptional activation. Due to MLL2's role in regulating the global epigenetic landscape of histones, dysfunction in MLL2 may lead to cancer. Predominantly mis-sense mutations in MLL2 have been detected in various cancers but their functional effect is not well characterized. |
| Commentary on involvement of protein in cancer: | CNS; Medulla; primitive neuroectodermal tumour-medulloblastoma; TRUE (14%); (12/88); Deletion Frameshift; Insertion Frameshift; Non-sense; Mis-sense |