KMT2B
Summary: This gene encodes a protein which contains multiple domains including a CXXC zinc finger, three PHD zinc fingers, two FY-rich domains, and a SET (suppressor of variegation, enhancer of zeste, and trithorax) domain. The SET domain is a conserved C-terminal domain that characterizes proteins of the MLL (mixed-lineage leukemia) family. This gene is ubiquitously expressed in adult tissues. It is also amplified in solid tumor cell lines, and may be involved in human cancer. Two alternatively spliced transcript variants encoding distinct isoforms have been reported for this gene, however, the full length nature of the shorter transcript is not known. [provided by RefSeq, Jul 2008].
Name | OMIM ID | Ensembl ID | HGNC ID | PHARMGKB ID | Map Location |
|---|---|---|---|---|---|
OMIM IDMIM:606834 Ensembl IDEnsembl:ENSG00000272333 HGNC IDHGNC:HGNC:15840 PHARMGKB IDPA166123699 Map Location19q13.12 | |||||
GO terms in KMT2B
Term Type | Evidence Type | GO Term ID | GO Des. |
|---|---|---|---|
| CC | IDA | GO:0005634 | nucleus |
| CC | TAS | GO:0005654 | nucleoplasm |
| CC | IDA | GO:0035097 | histone methyltransferase complex |
| BP | IEA | GO:0001541 | ovarian follicle development |
| BP | IEA | GO:0006351 | transcription, DNA-templated |
| BP | IEA | GO:0006357 | regulation of transcription by RNA polymerase II |
Gene expression in normal tissue: KMT2B
Gene-model tissue-cancer distribution: Bubble Plot
Gene-drug pathway distribution
Pathways in KMT2B
Database | Pathway ID | Pathway Des. |
|---|---|---|
| kegg | hsa00310 | Lysine degradation - Homo sapiens (human) |
| wikipathways | WP2369 | Histone Modifications |
| reactome | R-HSA-212436 | Generic Transcription Pathway |
| reactome | R-HSA-3214841 | PKMTs methylate histone lysines |
| reactome | R-HSA-3247509 | Chromatin modifying enzymes |
| reactome | R-HSA-4839726 | Chromatin organization |
Gene-Drug: Aster Plot
Gene in drug-gene network: Network Plot
Gene-drug targets distribution
Gene Structure: PDB
Models in KMT2B
Model | Level | Reference ID | Tissue | Cancer | Drug | Clinical Response | Source | |
|---|---|---|---|---|---|---|---|---|
| No matching records found | ||||||||
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