Entrez Gene ID | 2122 |
---|---|
Official Gene Symbol | MECOM (GeneCards) |
Full name | MDS1 and EVI1 complex locus |
Location | 3q26.2 |
Other ids | Vega : OTTHUMG00000158596 MIM : 165215 HGNC : HGNC:3498 Ensembl : ENSG00000085276 |
Other names | EVI1, MDS1, KMT8E, PRDM3, RUSAT2, MDS1-EVI1, AML1-EVI-1 |
Summary | The protein encoded by this gene is a transcriptional regulator and oncoprotein that may be involved in hematopoiesis, apoptosis, development, and cell differentiation and proliferation. The encoded protein can interact with CTBP1, SMAD3, CREBBP, KAT2B, MAPK8, and MAPK9. This gene can undergo translocation with the AML1 gene, resulting in overexpression of this gene and the onset of leukemia. Several transcript variants encoding a few different isoforms have been found for this gene. [provided by RefSeq, Mar 2011] |
Found 8 variants in this database.
Variant ID | Entrez Gene ID | Gene | Chromsome | Start | End | Disease | Method |
---|---|---|---|---|---|---|---|
5155 | 2122 | MECOM | 3 | 169267765 | 169267765 | Asymptomatic | HiSeq X Ten |
5223 | 2122 | MECOM | 3 | 168881416 | 168881416 | HiSeq X Ten | |
5302 | 2122 | MECOM | 3 | 168804138 | 168804138 | Asymptomatic | HiSeq X Ten |
5682 | 2122 | MECOM | 3 | 168938293 | 168938293 | Cockayne syndrome | HiSeq X Ten |
5718 | 2122 | MECOM | 3 | 169009121 | 169009121 | Cockayne syndrome | HiSeq X Ten |
5736 | 2122 | MECOM | 3 | 169271891 | 169271891 | Cockayne syndrome | HiSeq X Ten |
22719 | 2122 | MECOM | 3 | 169216368 | 169216368 | Asymptomatic | HiSeq X Ten Single cell Sequencing Cell cloning |
25186 | 2122 | MECOM | 3 | 169254852 | 169254852 | Asymptomatic | HiSeq X Ten Single cell Sequencing Cell cloning |