MECOM (MDS1 and EVI1 complex locus)

Gene Gene information from NCBI Gene database.
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID 2122
Gene name MDS1 and EVI1 complex locus
Gene symbol MECOM
Synonyms (NCBI Gene)
AML1-EVI-1EVI1KMT8EMDS1MDS1-EVI1PRDM3RUSAT2
Chromosome 3
Chromosome location 3q26.2
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, M
SNPs SNP information provided by dbSNP.
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Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
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SNP ID Visualize variation Clinical significance Consequence
rs864309722 T>C Pathogenic Missense variant, coding sequence variant
rs864309723 T>C Pathogenic Missense variant, coding sequence variant
rs1560118923 G>A Pathogenic Stop gained, coding sequence variant
rs1577005203 G>A Likely-pathogenic Intron variant, stop gained, coding sequence variant
miRNA miRNA information provided by mirtarbase database.
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Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
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miRTarBase ID miRNA Experiments Reference
MIRT1139852 hsa-miR-129-5p CLIP-seq
MIRT1139853 hsa-miR-3143 CLIP-seq
MIRT1139854 hsa-miR-338-5p CLIP-seq
MIRT1139855 hsa-miR-4420 CLIP-seq
MIRT1139856 hsa-miR-4666-3p CLIP-seq
Transcription factors Transcription factors information provided by TRRUST V2 database.
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Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
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Transcription factor Regulation Reference
ELK1 Activation 22689058
RUNX1 Activation 22689058
SMARCA4 Activation 14555651
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
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Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
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GO ID Ontology Definition Evidence Reference
GO:0000118 Component Histone deacetylase complex IDA 11568182
GO:0000978 Function RNA polymerase II cis-regulatory region sequence-specific DNA binding IBA
GO:0001228 Function DNA-binding transcription activator activity, RNA polymerase II-specific IBA
GO:0003677 Function DNA binding IEA
GO:0003677 Function DNA binding ISS
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
MIM HGNC e!Ensembl
165215 3498 ENSG00000085276
Protein Protein information from UniProt database.
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q03112
Protein name Histone-lysine N-methyltransferase MECOM (EC 2.1.1.367) (Ecotropic virus integration site 1 protein homolog) (EVI-1) (MDS1 and EVI1 complex locus protein) (Myelodysplasia syndrome 1 protein) (Myelodysplasia syndrome-associated protein 1)
Protein function [Isoform 1]: Functions as a transcriptional regulator binding to DNA sequences in the promoter region of target genes and regulating positively or negatively their expression. Oncogene which plays a role in development, cell proliferation and di
PDB 6BW3
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00096 zf-C2H2 263 → 285 Zinc finger, C2H2 type Domain
PF00096 zf-C2H2 291 → 313 Zinc finger, C2H2 type Domain
PF00096 zf-C2H2 319 → 342 Zinc finger, C2H2 type Domain
PF00096 zf-C2H2 348 → 370 Zinc finger, C2H2 type Domain
PF00096 zf-C2H2 376 → 398 Zinc finger, C2H2 type Domain
PF00096 zf-C2H2 405 → 426 Zinc finger, C2H2 type Domain
PF00096 zf-C2H2 912 → 934 Zinc finger, C2H2 type Domain
PF00096 zf-C2H2 940 → 963 Zinc finger, C2H2 type Domain
PF00096 zf-C2H2 969 → 991 Zinc finger, C2H2 type Domain
Sequence 
MRSKGRARKLATNNECVYGNYPEIPLEEMPDADGVASTPSLNIQEPCSPATSSEAFTPKE
GSPYKAPIYIPDDIPIPAEFELRESNMPGAGLGIWTKRKIEVGEKFGPYVGEQRSNLKDP
SYGWEILDEFYNVKFCIDASQPDVGSWLKYIRFAGCYDQHNLVACQINDQIFYRVVADIA
PGEELLLFMKSEDYPHETMAPDIHEERQYRCEDCDQLFESKAELADHQKFPCSTPHSAFS
MVEEDFQQKLESENDLQEIHTIQECKECDQVFPDLQSLEKHMLSHTEEREYKCDQCPKAF
NWKSNLIRHQMSHDSGKHYECENCAKVFTDPSNLQRHIRSQHVGARAHACPECGKTFATS
SGLKQHKHIHSSVKPFICEVCHKSYTQFSNLCRHKRMHADCRTQIKCKDCGQMFSTTSSL
NKHRRFCEGKNHFAAGGFFGQGISLPGTPAMDKTSMVNMSHANPGLADYFGANRHPAGLT
FPTAPGFSFSFPGLFPSGLYHRPPLIPASSPVKGLSSTEQTNKSQSPLMTHPQILPATQD
ILKALSKHPSVGDNKPVELQPERSSEERPFEKISDQSESSDLDDVSTPSGSDLETTSGSD
LESDIESDKEKFKENGKMFKDKVSPLQNLASINNKKEYSNHSIFSPSLEEQTAVSGAVND
SIKAIASIAEKYFGSTGLVGLQDKKVGALPYPSMFPLPFFPAFSQSMYPFPDRDLRSLPL
KMEPQSPGEVKKLQKGSSESPFDLTTKRKDEKPLTPVPSKPPVTPATSQDQPLDLSMGSR
SRASGTKLTEPRKNHVFGGKKGSNVESRPASDGSLQHARPTPFFMDPIYRVEKRKLTDPL
EALKEKYLRPSPGFLFHPQMSAIENMAEKLESFSALKPEASELLQSVPSMFNFRAPPNAL
PENLLRKGKERYTCRYCGKIFPRSANLTRHLRTHTGEQPYRCKYCDRSFSISSNLQRHVR
NIHNKEKPFKCHLCDRCFGQQTNLDRHLKKHENGNMSGTATSSPHSELESTGAILDDKED
AYFTEIRNFIGNSNHGSQSPRNVEERMNGSHFKDEKALVTSQNSDLLDDEEVEDEVLLDE
EDEDNDITGKTGKEPVTSNLHEGNPEDDYEETSALEMSCKTSPVRYKEEEYKSGLSALDH
IRHFTDSLKMRKMEDNQYSEAELSSFSTSHVPEELKQPLHRKSKSQAYAMMLSLSDKESL
HSTSHSSSNVWHSMARAAAESSAIQSISHV
Sequence length 1230
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
  KEGG  Reactome
  Lysine degradation
Metabolic pathways
MAPK signaling pathway
Pathways in cancer
Chronic myeloid leukemia 		  PKMTs methylate histone lysines
Regulation of PTEN gene transcription
Associated diseases Disease associations from ClinVar categorized as Causal (Pathogenic/Likely Pathogenic) or Unknown.
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Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide Causal Diseases (7)
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Hereditary cancer-predisposing syndrome Pathogenic rs2549200429 RCV003445474
MECOM-associated syndrome Likely pathogenic; Pathogenic rs864309724, rs2549268925 RCV005623074
RCV006249866
MECOM-related disorder Likely pathogenic; Pathogenic rs864309724 RCV004745276
Premature ovarian failure Likely pathogenic rs767306816 RCV001270195
Show/Hide Unknown Diseases (11)
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Abnormal bleeding Uncertain significance; Conflicting classifications of pathogenicity rs373255348, rs745797691 RCV001270543
RCV001270537
Adenoid cystic carcinoma - rs1553838272 RCV004813288
Clear cell carcinoma of kidney Uncertain significance rs145851161, rs201542000 RCV005922707
RCV005926630
Colon adenocarcinoma Benign rs35507790 RCV005869899
Show/Hide Text Mining Associations (84)
Associations from Text MiningDisease associations identified through Pubtator
Disease Name Relationship Type References
17 Hydroxysteroid Dehydrogenase Deficiency Stimulate 18815193
Abnormalities Drug Induced Associate 12393383
Acute Retroviral Syndrome Associate 23155256
Anemia Hemolytic Associate 23776681
Anemia Refractory Associate 8049440
Anemia Refractory with Excess of Blasts Associate 8049440
Aural Atresia Congenital Associate 36171401
Blast Crisis Associate 18613965
Bovine Respiratory Disease Complex Associate 29540340
Breast Neoplasms Associate 24935473, 27991928, 30592274, 36195836