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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]
MECOM (MDS1 And EVI1 Complex Locus) is a Protein Coding gene. Diseases associated with MECOM include Radioulnar Synostosis With Amegakaryocytic Thrombocytopenia 2 and Acute Myeloid Leukemia With Inv3(P21;Q26.2) Or T(3;3)(P21;Q26.2). Among its related pathways are PKMTs methylate histone lysines and MAPK signaling pathway. Gene Ontology (GO) annotations related to this gene include nucleic acid binding and protein homodimerization activity. An important paralog of this gene is PRDM16.
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0000981 | DNA-binding transcription factor activity, RNA polymerase II-specific | ISA | -- |
GO:0003676 | nucleic acid binding | IEA | -- |
GO:0003677 | DNA binding | ISS | -- |
GO:0003700 | DNA-binding transcription factor activity | TAS,IDA | 19767769 |
GO:0005515 | protein binding | IPI | 10856240 |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0000118 | colocalizes_with histone deacetylase complex | IDA | 11568182 |
GO:0005634 | nucleus | IEA,IDA | 15897867 |
GO:0005654 | nucleoplasm | TAS | -- |
GO:0005737 | cytoplasm | IEA | -- |
GO:0005829 | cytosol | TAS | -- |
SuperPathway | Contained pathways | ||
---|---|---|---|
1 | Chromatin organization | ||
2 | NF-kappaB Signaling | ||
3 | Endometrial cancer | ||
4 | MAPK signaling pathway | ||
5 | Pathways in cancer |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0006357 | regulation of transcription by RNA polymerase II | IEA | -- |
GO:0006915 | apoptotic process | IEA | -- |
GO:0007275 | multicellular organism development | IEA | -- |
GO:0030154 | cell differentiation | IEA | -- |
GO:0032259 | methylation | IEA | -- |
Name | Status | Disease Links | Group | Role | Mechanism of Action | Clinical Trials |
---|
ExUns: | 1 | ^ | 2a | · | 2b | · | 2c | ^ | 3a | · | 3b | · | 3c | ^ | 4 | ^ | 5 | ^ | 6 | ^ | 7 | ^ | 8a | · | 8b | · | 8c | ^ | 9a | · | 9b | · | 9c | ^ | 10a | · | 10b | ^ | 11 | ^ | 12a | · | 12b | ^ | 13 | ^ | 14 | ^ | 15 | ^ | 16 | ^ |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
SP1: | - | - | - | |||||||||||||||||||||||||||||||||||||||||||||||||
SP2: | - | |||||||||||||||||||||||||||||||||||||||||||||||||||
SP3: | - | |||||||||||||||||||||||||||||||||||||||||||||||||||
SP4: | - | - | - | - | - | - | - | - | ||||||||||||||||||||||||||||||||||||||||||||
SP5: | - | - | - | - | - | - | ||||||||||||||||||||||||||||||||||||||||||||||
SP6: | - | - | - | - | - | |||||||||||||||||||||||||||||||||||||||||||||||
SP7: | - | - | - | - | ||||||||||||||||||||||||||||||||||||||||||||||||
SP8: | - | - | ||||||||||||||||||||||||||||||||||||||||||||||||||
SP9: | - | |||||||||||||||||||||||||||||||||||||||||||||||||||
SP10: |
ExUns: | 17 | ^ | 18 | ^ | 19 | ^ | 20 | ^ | 21 |
---|---|---|---|---|---|---|---|---|---|
SP1: | |||||||||
SP2: | |||||||||
SP3: | |||||||||
SP4: | |||||||||
SP5: | |||||||||
SP6: | |||||||||
SP7: | |||||||||
SP8: | |||||||||
SP9: | |||||||||
SP10: |
This gene was present in the common ancestor of animals and fungi.
Organism | Taxonomy | Gene | Similarity | Type | Details |
---|---|---|---|---|---|
chimpanzee (Pan troglodytes) |
Mammalia | MECOM 33 32 |
|
OneToOne | |
dog (Canis familiaris) |
Mammalia | MECOM 33 32 |
|
OneToOne | |
cow (Bos Taurus) |
Mammalia | MECOM 33 32 |
|
OneToOne | |
platypus (Ornithorhynchus anatinus) |
Mammalia | MECOM 33 |
|
OneToOne | |
mouse (Mus musculus) |
Mammalia | Mecom 17 33 32 |
|
||
oppossum (Monodelphis domestica) |
Mammalia | MECOM 33 |
|
OneToOne | |
chicken (Gallus gallus) |
Aves | MECOM 33 32 |
|
OneToOne | |
lizard (Anolis carolinensis) |
Reptilia | MECOM 33 |
|
OneToOne | |
tropical clawed frog (Silurana tropicalis) |
Amphibia | LOC100496511 32 |
|
||
Str.12493 32 |
|
||||
zebrafish (Danio rerio) |
Actinopterygii | mecom 33 32 |
|
OneToOne | |
fruit fly (Drosophila melanogaster) |
Insecta | ham 33 |
|
OneToMany | |
worm (Caenorhabditis elegans) |
Secernentea | egl-43 33 |
|
OneToMany | |
baker's yeast (Saccharomyces cerevisiae) |
Saccharomycetes | MSN2 33 |
|
ManyToMany | |
MSN4 33 |
|
ManyToMany | |||
sea squirt (Ciona savignyi) |
Ascidiacea | -- 33 |
|
OneToMany | |
Cin.322 32 |
|
||||
sea squirt (Ciona intestinalis) |
Ascidiacea | Cin.322 32 |
|
SNP ID | Clin | Chr 03 pos | Variation | AA Info | Type |
---|---|---|---|---|---|
rs1553838272 | uncertain-significance, Adenoid cystic carcinoma | 169,115,672(-) | G/A | coding_sequence_variant, stop_gained | |
rs1560202272 | uncertain-significance, Peritoneal mesothelioma | 169,381,300(-) | G/A | coding_sequence_variant, genic_upstream_transcript_variant, intron_variant, missense_variant | |
rs864309722 | pathogenic, Radioulnar synostosis with amegakaryocytic thrombocytopenia 2, Radioulnar synostosis with amegakaryocytic thrombocytopenia 2 (RUSAT2) [MIM:616738] | 169,100,904(-) | T/C | coding_sequence_variant, missense_variant | |
rs864309723 | pathogenic, Radioulnar synostosis with amegakaryocytic thrombocytopenia 2, Radioulnar synostosis with amegakaryocytic thrombocytopenia 2 (RUSAT2) [MIM:616738] | 169,100,918(-) | T/C | coding_sequence_variant, missense_variant | |
rs864309724 | pathogenic, Radioulnar synostosis with amegakaryocytic thrombocytopenia 2, Radioulnar synostosis with amegakaryocytic thrombocytopenia 2 (RUSAT2) [MIM:616738] | 169,100,922(-) | G/A | coding_sequence_variant, missense_variant |
Disorder | Aliases | PubMed IDs |
---|---|---|
radioulnar synostosis with amegakaryocytic thrombocytopenia 2 |
|
|
acute myeloid leukemia with inv3(p21;q26.2) or t(3;3)(p21;q26.2) |
|
|
radio-ulnar synostosis-amegakaryocytic thrombocytopenia syndrome |
|
|
myelodysplastic syndrome |
|
|
radioulnar synostosis |
|
|