MECOM (MDS1 and EVI1 complex locus)

Gene
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
2122
Gene name Gene Name - the full gene name approved by the HGNC.
MDS1 and EVI1 complex locus
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
MECOM
Synonyms (NCBI Gene) Gene synonyms aliases
AML1-EVI-1, EVI1, KMT8E, MDS1, MDS1-EVI1, PRDM3, RUSAT2
Chromosome Chromosome number
3
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
3q26.2
Summary Summary of gene provided in NCBI Entrez Gene.
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.
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all(4)
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.
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all(42)
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
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all(3)
Transcription factor Regulation Reference
ELK1 Activation 22689058
RUNX1 Activation 22689058
SMARCA4 Activation 14555651
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all(45)
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 ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
MIM HGNC e!Ensembl
165215 3498 ENSG00000085276
Protein
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
UniProt ID 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
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Associated diseases Disease associations categorized as Causal (pathogenic variants), Unknown (uncertain genetic evidence), or Text Mining (literature-based associations)
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide Causal Diseases (2)
Causal Diseases caused by PATHOGENIC or LIKELY PATHOGENIC variants from ClinVar only
Disease merge term Disease name dbSNP ID References
Radioulnar Synostosis With Amegakaryocytic Thrombocytopenia radioulnar synostosis with amegakaryocytic thrombocytopenia 2 rs864309722, rs864309723 N/A
thrombocytopenia Thrombocytopenia rs1577005203 N/A
Show/Hide Unknown Diseases (15)
Unknown Includes: (1) ClinVar NON-pathogenic variants (Uncertain, Benign, Conflicting, VUS), (2) GenCC associations, (3) GWAS associations, (4) CBGDA evidence-based associations. NOTE: Diseases with pathogenic evidence are excluded to avoid conflicts.
Disease merge term Disease name Evidence References Source
Adenocarcinoma adenoid cystic carcinoma N/A N/A ClinVar
Asthma Asthma N/A N/A GWAS
Cervical Cancer Cervical cancer N/A N/A GWAS
Coronary artery disease Coronary artery disease N/A N/A GWAS
Show/Hide Text Mining Associations (84)
Associations from Text Mining Disease 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