MECOM Gene (Protein Coding)

MDS1 And EVI1 Complex Locus

GC03M169083
GIFtS:
48
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 ons... See more...

Aliases for MECOM Gene

Aliases for MECOM Gene

  • MDS1 And EVI1 Complex Locus 2 3 5
  • PRDM3 2 3 4
  • Ecotropic Virus Integration Site 1 Protein Homolog 3 4
  • Myelodysplasia Syndrome-Associated Protein 1 3 4
  • Histone-Lysine N-Methyltransferase MECOM 3 4
  • PR Domain 3 2 3
  • MDS1-EVI1 2 3
  • KMT8E 2 3
  • EVI1 3 4
  • MDS1 3 4
  • MDS1 And EVI1 Complex Locus Protein EVI1 3
  • MDS1 And EVI1 Complex Locus Protein MDS1 3
  • MDS1 And EVI1 Complex Locus Protein 4
  • Ecotropic Viral Integration Site 1 2
  • Myelodysplasia Syndrome 1 Protein 4
  • Myelodysplasia Syndrome 1 2
  • AML1-EVI-1 Fusion Protein 3
  • Zinc Finger Protein Evi1 3
  • Oncogene EVI1 3
  • EC 2.1.1.367 4
  • AML1-EVI-1 3
  • RUSAT2 3
  • MECOM 5
  • EVI-1 4

External Ids for MECOM Gene

Previous HGNC Symbols for MECOM Gene

  • MDS1
  • EVI1

Previous GeneCards Identifiers for MECOM Gene

  • GC03M170284
  • GC03M168802
  • GC03M166172

Summaries for MECOM Gene

Entrez Gene Summary for MECOM 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, 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]

CIViC Summary for MECOM Gene

GeneCards Summary for MECOM Gene

MECOM (MDS1 And EVI1 Complex Locus) is a Protein Coding gene. Diseases associated with MECOM include Radioulnar Synostosis With Amegakaryocytic Thrombocytopenia 2 and Radio-Ulnar Synostosis-Amegakaryocytic Thrombocytopenia Syndrome. Among its related pathways are Chromatin organization and Lysine degradation. Gene Ontology (GO) annotations related to this gene include nucleic acid binding and protein homodimerization activity. An important paralog of this gene is PRDM16.

UniProtKB/Swiss-Prot Summary for MECOM Gene

  • [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 differentiation. May also play a role in apoptosis through regulation of the JNK and TGF-beta signaling. Involved in hematopoiesis.
  • [Isoform 7]: Displays histone methyltransferase activity and monomethylates 'Lys-9' of histone H3 (H3K9me1) in vitro. Probably catalyzes the monomethylation of free histone H3 in the cytoplasm which is then transported to the nucleus and incorporated into nucleosomes where SUV39H methyltransferases use it as a substrate to catalyze histone H3 'Lys-9' trimethylation. Likely to be one of the primary histone methyltransferases along with PRDM16 that direct cytoplasmic H3K9me1 methylation.

Gene Wiki entry for MECOM Gene

Additional gene information for MECOM Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for MECOM Gene

Genomics for MECOM Gene

GeneHancer (GH) Regulatory Elements Pubs

Download GeneHancer 2017 data
Promoters and enhancers for MECOM Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around MECOM on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for MECOM

Genomic Locations for MECOM Gene

Latest Assembly
chr3:169,083,499-169,663,781
(GRCh38/hg38)
Size:
580,283 bases
Orientation:
Minus strand

Previous Assembly
chr3:168,801,295-169,381,500
(GRCh37/hg19 by Entrez Gene)
Size:
580,206 bases
Orientation:
Minus strand

chr3:168,801,287-169,381,406
(GRCh37/hg19 by Ensembl)
Size:
580,120 bases
Orientation:
Minus strand

Genomic View for MECOM Gene

Genes around MECOM on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
MECOM Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for MECOM Gene
GeneLoc Logo Genomic Neighborhood • Exon Structure • Gene Density

RefSeq DNA sequence for MECOM Gene

Proteins for MECOM Gene

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  • Protein details for MECOM Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q03112-MECOM_HUMAN
    Recommended name:
    Histone-lysine N-methyltransferase MECOM
    Protein Accession:
    Q03112
    Secondary Accessions:
    • A1L4F3
    • A8KA00
    • B7Z8W7
    • B7ZLQ3
    • B7ZLQ4
    • C9JAK0
    • D3DNP7
    • E7EQ57
    • Q13465
    • Q13466
    • Q16122
    • Q5HYI1
    • Q6FH90
    • Q6MZS6
    • Q8NEI5
    • Q99917

    Protein attributes for MECOM Gene

    Size:
    1230 amino acids
    Molecular mass:
    138136 Da
    Quaternary structure:
    • [Isoform 1]: Homooligomer. Interacts with SUV39H1 (via SET domain); enhances MECOM transcriptional repression activity (By similarity). Interacts with CTBP1. Interacts with SMAD3 (via MH2 domain); the interaction is direct. Interacts with SMAD4; through interaction with SMAD3. Interacts with CREBBP, KAT2B and histone deacetylases. Interacts with MAPK8 and MAPK9; inhibits JNK signaling (PubMed:10856240, PubMed:11568182, PubMed:15897867, PubMed:9665135).
    SequenceCaution:
    • Sequence=AAB29907.1; Type=Erroneous initiation; Note=Extended N-terminus.; Evidence={ECO:0000305}; Sequence=AAB29907.1; Type=Miscellaneous discrepancy; Note=Chimeric cDNA that is the result of a chromosomal aberration involving EVI1 and RUNX1.; Evidence={ECO:0000305}; Sequence=AAI30521.1; Type=Erroneous initiation; Note=Truncated N-terminus.; Evidence={ECO:0000305};
    Miscellaneous:
    • [Isoform 2]: Produced by alternative promoter usage. Unable to form homooligomers, to interact with CTBP1 and SMAD3 and to repress TGF-beta signaling.
    • [Isoform 9]: Produced by alternative promoter usage.

    Three dimensional structures from OCA and Proteopedia for MECOM Gene

    Alternative splice isoforms for MECOM Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for MECOM Gene

Protein Expression for MECOM Gene

See protein expression from ProteomicsDB, MOPED, PaxDb, and MaxQB

Post-translational modifications for MECOM Gene

Other Protein References for MECOM Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for MECOM Gene

Domains & Families for MECOM Gene

Gene Families for MECOM Gene

HGNC:
Human Protein Atlas (HPA):
  • Cancer-related genes
  • Disease related genes
  • Predicted intracellular proteins
  • Transcription factors

Protein Domains for MECOM Gene

InterPro:
Blocks:
  • C2H2-type zinc finger signature

Suggested Antigen Peptide Sequences for MECOM Gene

GenScript: Design optimal peptide antigens:
  • Zinc finger protein Evi1 (C7FEN9_HUMAN)
  • Ecotropic viral integration site 1, isoform CRA_a (D3DNP4_HUMAN)
  • Ecotropic virus integration site 1 protein homolog (EVI1_HUMAN)
  • Myelodysplasia syndrome-associated protein 1 (MDS1_HUMAN)
  • Zinc finger transcription factor (Q8IU84_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q03112

UniProtKB/Swiss-Prot:

MECOM_HUMAN :
  • Both zinc finger regions are required for the transcriptional activation of PBX1.
Domain:
  • Both zinc finger regions are required for the transcriptional activation of PBX1.
genes like me logo Genes that share domains with MECOM: view

Function for MECOM Gene

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  6. Cell Lines for research

Molecular function for MECOM Gene

UniProtKB/Swiss-Prot 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 differentiation. May also play a role in apoptosis through regulation of the JNK and TGF-beta signaling. Involved in hematopoiesis.
UniProtKB/Swiss-Prot Function:
[Isoform 7]: Displays histone methyltransferase activity and monomethylates 'Lys-9' of histone H3 (H3K9me1) in vitro. Probably catalyzes the monomethylation of free histone H3 in the cytoplasm which is then transported to the nucleus and incorporated into nucleosomes where SUV39H methyltransferases use it as a substrate to catalyze histone H3 'Lys-9' trimethylation. Likely to be one of the primary histone methyltransferases along with PRDM16 that direct cytoplasmic H3K9me1 methylation.
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=L-lysyl(9)-[histone H3] + S-adenosyl-L-methionine = H(+) + N(6)-methyl-L-lysyl(9)-[histone H3] + S-adenosyl-L-homocysteine; Xref=Rhea:RHEA:60280, Rhea:RHEA-COMP:15542, Rhea:RHEA-COMP:15546, ChEBI:CHEBI:15378, ChEBI:CHEBI:29969, ChEBI:CHEBI:57856, ChEBI:CHEBI:59789, ChEBI:CHEBI:61929; EC=2.1.1.367; Evidence={ECO:0000250|UniProtKB:P14404};.

Enzyme Numbers (IUBMB) for MECOM Gene

Phenotypes From GWAS Catalog for MECOM Gene

Gene Ontology (GO) - Molecular Function for MECOM Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000978 RNA polymerase II proximal promoter sequence-specific DNA binding IBA 21873635
GO:0001228 DNA-binding transcription activator activity, RNA polymerase II-specific IBA 21873635
GO:0003677 DNA binding ISS --
GO:0003700 DNA-binding transcription factor activity IDA 19767769
GO:0005515 protein binding IPI 10856240
genes like me logo Genes that share ontologies with MECOM: view
genes like me logo Genes that share phenotypes with MECOM: view

Human Phenotype Ontology for MECOM Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for MECOM Gene

MGI Knock Outs for MECOM:

Animal Models for research

miRNA for MECOM Gene

miRTarBase miRNAs that target MECOM

Transcription Factor Targets for MECOM Gene

Selected GeneGlobe predicted Target genes for MECOM

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for MECOM

Clone products for research

  • Addgene plasmids for MECOM

No data available for HOMER Transcription for MECOM Gene

Localization for MECOM Gene

Subcellular locations from UniProtKB/Swiss-Prot for MECOM Gene

Nucleus. Nucleus speckle. Cytoplasm.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for MECOM gene
Compartment Confidence
nucleus 5
cytosol 5
plasma membrane 2
extracellular 2
cytoskeleton 2
mitochondrion 1
endoplasmic reticulum 1
endosome 1
lysosome 1
golgi apparatus 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Nuclear speckles (3)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for MECOM Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000118 colocalizes_with histone deacetylase complex IDA 11568182
GO:0005634 nucleus IBA,IDA 15897867
GO:0005654 nucleoplasm TAS --
GO:0005737 cytoplasm IEA --
GO:0005829 cytosol TAS --
genes like me logo Genes that share ontologies with MECOM: view

Pathways & Interactions for MECOM Gene

genes like me logo Genes that share pathways with MECOM: view

Pathways by source for MECOM Gene

1 GeneGo (Thomson Reuters) pathway for MECOM Gene
  • Signal transduction Activin A signaling regulation
1 Cell Signaling Technology pathway for MECOM Gene

SIGNOR curated interactions for MECOM Gene

Activates:
Inactivates:
Is activated by:

Gene Ontology (GO) - Biological Process for MECOM Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006357 regulation of transcription by RNA polymerase II IBA 21873635
GO:0006915 apoptotic process IEA --
GO:0007275 multicellular organism development IEA --
GO:0030154 cell differentiation IEA --
GO:0032259 methylation IEA --
genes like me logo Genes that share ontologies with MECOM: view

Drugs & Compounds for MECOM Gene

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(1) Drugs for MECOM Gene - From: Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
genes like me logo Genes that share compounds with MECOM: view

Transcripts for MECOM Gene

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mRNA/cDNA for MECOM Gene

16 REFSEQ mRNAs :
44 NCBI additional mRNA sequence :
20 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for MECOM

Clone products for research

  • Addgene plasmids for MECOM

Alternative Splicing Database (ASD) splice patterns (SP) for MECOM Gene

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:

Relevant External Links for MECOM Gene

GeneLoc Exon Structure for
MECOM

Expression for MECOM Gene

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  2. Gene Expression Assays for research

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for MECOM Gene

mRNA expression in normal human tissues for MECOM Gene
mRNA expression by BioGPS for MECOM GenemRNA expression by GTEx for MECOM Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for MECOM Gene

This gene is overexpressed in Stomach (x6.4).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for MECOM Gene



Transcriptomic regulation report from SPP (The Signaling Pathways Project) for MECOM

SOURCE GeneReport for Unigene cluster for MECOM Gene:

Hs.744090

Evidence on tissue expression from TISSUES for MECOM Gene

  • Kidney(4.3)
  • Pancreas(4.3)
  • Lung(4.2)

Phenotype-based relationships between genes and organs from Gene ORGANizer for MECOM Gene

Germ Layers:
  • mesoderm
Systems:
  • cardiovascular
Regions:
General:
  • blood
  • bone marrow
  • coagulation system
  • red blood cell
  • white blood cell
genes like me logo Genes that share expression patterns with MECOM: view

Primer products for research

No data available for Protein differential expression in normal tissues , Protein tissue co-expression partners and mRNA Expression by UniProt/SwissProt for MECOM Gene

Orthologs for MECOM Gene

This gene was present in the common ancestor of animals and fungi.

Orthologs for MECOM Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
 Mammalia MECOM 29 30
  • 99.76 (n)
 OneToOne
Dog
(Canis familiaris)
 Mammalia MECOM 29 30
  • 95.4 (n)
 OneToOne
Cow
(Bos Taurus)
 Mammalia MECOM 29 30
  • 94.19 (n)
 OneToOne
Platypus
(Ornithorhynchus anatinus)
 Mammalia MECOM 30
  • 92 (a)
 OneToOne
Mouse
(Mus musculus)
 Mammalia Mecom 29 16 30
  • 88.29 (n)
 OneToOne
Oppossum
(Monodelphis domestica)
 Mammalia MECOM 30
  • 87 (a)
 OneToOne
Chicken
(Gallus gallus)
 Aves MECOM 29 30
  • 84.92 (n)
 OneToOne
Lizard
(Anolis carolinensis)
 Reptilia MECOM 30
  • 86 (a)
 OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
 Amphibia LOC100496511 29
  • 74.78 (n)
Str.12493 29
Zebrafish
(Danio rerio)
 Actinopterygii mecom 29 30
  • 65.52 (n)
 OneToOne
Fruit Fly
(Drosophila melanogaster)
 Insecta ham 30
  • 27 (a)
 OneToMany
Worm
(Caenorhabditis elegans)
 Secernentea egl-43 30
  • 30 (a)
 OneToMany
Baker's yeast
(Saccharomyces cerevisiae)
 Saccharomycetes MSN2 30
  • 17 (a)
 ManyToMany
MSN4 30
  • 16 (a)
 ManyToMany
Sea Squirt
(Ciona savignyi)
 Ascidiacea -- 30
  • 37 (a)
 OneToMany
Sea Vase
(Ciona intestinalis)
 Ascidiacea Cin.322 29
Species where no ortholog for MECOM was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • Alpha proteobacteria (Wolbachia pipientis)
  • Amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • Barley (Hordeum vulgare)
  • Beta proteobacteria (Neisseria meningitidis)
  • Bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • Common water flea (Daphnia pulex)
  • Corn (Zea mays)
  • E. coli (Escherichia coli)
  • Filamentous fungi (Aspergillus nidulans)
  • Firmicute Bacteria (Streptococcus pneumoniae)
  • Fission Yeast (Schizosaccharomyces pombe)
  • Green Algae (Chlamydomonas reinhardtii)
  • Honey Bee (Apis mellifera)
  • K. Lactis Yeast (Kluyveromyces lactis)
  • Loblloly Pine (Pinus taeda)
  • Malaria Parasite (Plasmodium falciparum)
  • Medicago Trunc (Medicago Truncatula)
  • Moss (Physcomitrella patens)
  • Orangutan (Pongo pygmaeus)
  • Pig (Sus scrofa)
  • Rainbow Trout (Oncorhynchus mykiss)
  • Rat (Rattus norvegicus)
  • Rice (Oryza sativa)
  • Rice Blast Fungus (Magnaporthe grisea)
  • Schistosome Parasite (Schistosoma mansoni)
  • Sea Anemone (Nematostella vectensis)
  • Sea Urchin (Strongylocentrotus purpuratus)
  • Sorghum (Sorghum bicolor)
  • Soybean (Glycine max)
  • Stem Rust Fungus (Puccinia graminis)
  • Sugarcane (Saccharum officinarum)
  • Thale Cress (Arabidopsis thaliana)
  • Tomato (Lycopersicon esculentum)
  • Toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • Wheat (Triticum aestivum)

Evolution for MECOM Gene

ENSEMBL:
Gene Tree for MECOM (if available)
TreeFam:
Gene Tree for MECOM (if available)
Aminode:
Evolutionary constrained regions (ECRs) for MECOM: view image
Alliance of Genome Resources:
Additional Orthologs for MECOM

Paralogs for MECOM Gene

Paralogs for MECOM Gene

(130) SIMAP similar genes for MECOM Gene using alignment to 10 proteins:

  • EVI1_HUMAN
  • MDS1_HUMAN
  • C9JU02_HUMAN
  • E7EPY2_HUMAN
  • E7EQ57_HUMAN
  • E7ERX0_HUMAN
  • E7EU48_HUMAN
  • E7EUL6_HUMAN
  • E9PGE9_HUMAN
  • H9KVD4_HUMAN
genes like me logo Genes that share paralogs with MECOM: view

Variants for MECOM Gene

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Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for MECOM Gene

SNP ID Clinical significance and condition Chr 03 pos Variation AA Info Type
916672 Likely Pathogenic: Dyskeratosis congenita, autosomal dominant 1 169,482,733(-) AGG/A
NM_004991.4(MECOM):c.38-101211_38-101210del 		INTRON
916673 Likely Pathogenic: Dyskeratosis congenita, autosomal dominant 1 169,482,733(-) AG/A
NM_004991.4(MECOM):c.38-101210del 		INTRON
929746 Likely Pathogenic: Premature ovarian failure 169,095,076(-) C/T
NM_004991.4(MECOM):c.3019G>A (p.Gly1007Ser) 		MISSENSE
972906 Likely Pathogenic: Dyskeratosis congenita, autosomal dominant 1 169,482,483(-) CGCCACCACGCCCGG/
NM_004991.4(MECOM):c.38-100973_38-100960del 		INTRON
988838 Uncertain Significance: Thrombocytopenia; Abnormal bleeding 169,131,462(-) A/C
NM_004991.4(MECOM):c.580T>G (p.Tyr194Asp) 		MISSENSE

dbSNP identifiers (rs#s) for variants without ClinVar clinical significance for MECOM Gene

All consequence types are included: molecular consequences (e.g. missense, synonymous), and location-based (e.g. intron, upstream).

Structural Variations from Database of Genomic Variants (DGV) for MECOM Gene

Variant ID Type Subtype PubMed ID
dgv2635n106 CNV deletion 24896259
esv2422204 CNV deletion 17116639
esv24422 CNV gain 19812545
esv2594592 CNV deletion 19546169
esv2674789 CNV deletion 23128226
esv2676634 CNV deletion 23128226
esv2726180 CNV deletion 23290073
esv2726181 CNV deletion 23290073
esv2726182 CNV deletion 23290073
esv2726183 CNV deletion 23290073
esv2726184 CNV deletion 23290073
esv2726186 CNV deletion 23290073
esv2726187 CNV deletion 23290073
esv275118 CNV loss 21479260
esv2844 CNV loss 18987735
esv3304468 CNV mobile element insertion 20981092
esv3402676 CNV duplication 20981092
esv3422604 CNV insertion 20981092
esv3431577 CNV insertion 20981092
esv3562892 CNV deletion 23714750
esv3598591 CNV loss 21293372
esv3598596 CNV loss 21293372
esv3598599 CNV loss 21293372
esv3893814 CNV gain 25118596
esv7580 CNV loss 19470904
nsv1074108 CNV deletion 25765185
nsv1074109 CNV deletion 25765185
nsv1109560 CNV deletion 24896259
nsv1123704 CNV deletion 24896259
nsv1135919 CNV deletion 24896259
nsv1151640 CNV deletion 26484159
nsv4108 CNV insertion 18451855
nsv4109 CNV insertion 18451855
nsv4111 CNV deletion 18451855
nsv472474 CNV novel sequence insertion 20440878
nsv508965 CNV insertion 20534489
nsv528819 CNV loss 19592680
nsv7356 OTHER inversion 18451855
nsv829791 CNV loss 17160897
nsv829792 CNV loss 17160897
nsv955588 CNV deletion 24416366
nsv967088 CNV duplication 23825009

Variation tolerance for MECOM Gene

Residual Variation Intolerance Score: 38.5% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 6.42; 77.17% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for MECOM Gene

Human Gene Mutation Database (HGMD)
MECOM
SNPedia medical, phenotypic, and genealogical associations of SNPs for
MECOM
Leiden Open Variation Database (LOVD)
MECOM

SNP Genotyping and Copy Number Assays for research

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for MECOM Gene

Disorders for MECOM Gene

MalaCards: The human disease database

(30) MalaCards diseases for MECOM Gene - From: LNC, OMI, CVR, GTR, ORP, SWI, COP, and GCD

- elite association - COSMIC cancer census association via MalaCards
Search MECOM in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

MECOM_HUMAN
  • Note=A chromosomal aberration involving EVI1 is a cause of chronic myelogenous leukemia (CML). Translocation t(3;21)(q26;q22) with RUNX1/AML1. {ECO:0000269 PubMed:8313895}.
  • Radioulnar synostosis with amegakaryocytic thrombocytopenia 2 (RUSAT2) [MIM:616738]: An autosomal dominant disease characterized by proximal fusion of the radius and ulna resulting in extremely limited pronation and supination of the forearm, and congenital thrombocytopenia that progresses to pancytopenia. {ECO:0000269 PubMed:26581901}. Note=The disease is caused by variants affecting the gene represented in this entry.
  • Note=A chromosomal aberration involving MDS1 is found in a form of acute myeloid leukemia (AML). Translocation t(3;21) with AML1. {ECO:0000269 PubMed:8643684}.

Additional Disease Information for MECOM

Human Genome Epidemiology Navigator
(HuGE)
Atlas
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
Open Targets Platform
Open Targets Platform
genes like me logo Genes that share disorders with MECOM: view

No data available for Genatlas for MECOM Gene

Publications for MECOM Gene

  1. Mutations in MECOM, Encoding Oncoprotein EVI1, Cause Radioulnar Synostosis with Amegakaryocytic Thrombocytopenia. (PMID: 26581901) Niihori T … Aoki Y (American journal of human genetics 2015) 3 4 72
  2. Oligomerization of Evi-1 regulated by the PR domain contributes to recruitment of corepressor CtBP. (PMID: 15897867) Nitta E … Hirai H (Oncogene 2005) 3 4 22
  3. A novel gene, MEL1, mapped to 1p36.3 is highly homologous to the MDS1/EVI1 gene and is transcriptionally activated in t(1;3)(p36;q21)-positive leukemia cells. (PMID: 11050005) Mochizuki N … Morishita K (Blood 2000) 3 4 22
  4. Intergenic splicing of MDS1 and EVI1 occurs in normal tissues as well as in myeloid leukemia and produces a new member of the PR domain family. (PMID: 8643684) Fears S … Nucifora G (Proceedings of the National Academy of Sciences of the United States of America 1996) 2 3 4
  5. Structurally altered Evi-1 protein generated in the 3q21q26 syndrome. (PMID: 8700545) Ogawa S … Hirai H (Oncogene 1996) 3 4 22

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