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Aliases for MECOM Gene

Aliases for MECOM Gene

  • MDS1 And EVI1 Complex Locus 2 3 5
  • Ecotropic Virus Integration Site 1 Protein Homolog 3 4
  • Myelodysplasia Syndrome-Associated Protein 1 3 4
  • PR Domain 3 2 3
  • EVI1 3 4
  • MDS1 3 4
  • MDS1 And EVI1 Complex Locus Protein EVI1 3
  • MDS1 And EVI1 Complex Locus Protein MDS1 3
  • 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
  • AML1-EVI-1 3
  • MDS1-EVI1 3
  • RUSAT2 3
  • KMT8E 3
  • PRDM3 3
  • 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]

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 Radioulnar Synostosis With Amegakaryocytic Thrombocytopenia. Among its related pathways are Pathways in cancer and Chromatin organization. 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 for MECOM Gene

  • 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.

Gene Wiki entry for MECOM Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for MECOM Gene

Genomics for MECOM Gene

Regulatory Elements for MECOM Gene

Enhancers for MECOM Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH03F169579 1.5 ENCODE 5.7 +84.3 84291 0.7 OSR2 PKNOX1 MECOM GC03P169608 RPL22P1
GH03F169043 0.9 Ensembl ENCODE 5 +619.0 618970 2.1 CTCF HLF JUN MECOM LINC01997 GC03M169131
GH03F170418 0.8 FANTOM5 ENCODE 4.5 -756.4 -756439 4.1 CTCF RNF2 SAP130 BHLHE40 MAX NFYC MIER2 ZNF664 POLR2A KDM1A CLDN11 MECOM SLC7A14 MIR6828
GH03F169657 1 FANTOM5 Ensembl ENCODE 3.9 +0.1 119 12.4 PKNOX1 ARID4B FEZF1 DMAP1 ZNF2 ZNF263 SP3 REST SMARCB1 KAT8 SEC62-AS1 ENSG00000239628 ENSG00000270096 PRKCI ACTRT3 MECOM ENSG00000242795
GH03F169676 0.4 Ensembl 0.4 -13.3 -13315 0.6 SPI1 MECOM SDHDP3
- Elite enhancer/Elite enhancer-gene association Download Table
Download GeneHancer data dump

Enhancers around MECOM on UCSC Golden Path with GeneCards custom track

Promoters for MECOM Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00001680839 1186 4000 PKNOX1 ARID4B FEZF1 GLI4 DMAP1 ZNF48 ZNF2 ZNF121 GLIS2 REST

Genomic Location for MECOM Gene

Chromosome:
3
Start:
169,083,499 bp from pter
End:
169,663,786 bp from pter
Size:
580,288 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 StructureGene Density

RefSeq DNA sequence for MECOM Gene

Proteins for MECOM Gene

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

    Protein Symbol:
    Q03112-EVI1_HUMAN
    Recommended name:
    MDS1 and EVI1 complex locus protein EVI1
    Protein Accession:
    Q03112
    Secondary Accessions:
    • A1L4F3
    • A8KA00
    • B7Z8W7
    • B7ZLQ3
    • B7ZLQ4
    • C9JAK0
    • D3DNP7
    • Q16122
    • Q5HYI1
    • Q6MZS6
    • Q8NEI5
    • Q99917

    Protein attributes for MECOM Gene

    Size:
    1051 amino acids
    Molecular mass:
    118276 Da
    Quaternary structure:
    • 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.
    SequenceCaution:
    • Sequence=AAB29907.1; Type=Erroneous initiation; Evidence={ECO:0000305}; Sequence=AAB37456.1; Type=Miscellaneous discrepancy; Note=Probable cloning artifact.; Evidence={ECO:0000305}; Sequence=AAI30521.1; Type=Erroneous initiation; Evidence={ECO:0000305}; Sequence=BAH14103.1; Type=Miscellaneous discrepancy; Note=Aberrant splicing.; Evidence={ECO:0000305};

    Alternative splice isoforms for MECOM Gene

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

    Protein Symbol:
    Q13465-MDS1_HUMAN
    Recommended name:
    MDS1 and EVI1 complex locus protein MDS1
    Protein Accession:
    Q13465
    Secondary Accessions:
    • Q13466
    • Q6FH90

    Protein attributes for MECOM Gene

    Size:
    169 amino acids
    Molecular mass:
    18696 Da
    Quaternary structure:
    No Data Available

    Alternative splice isoforms for MECOM Gene

neXtProt entry for MECOM Gene

Post-translational modifications for MECOM Gene

Antibody Products

  • Cell Signaling Technology (CST) Antibodies for MECOM (EVI1)

No data available for DME Specific Peptides for MECOM Gene

Domains & Families for MECOM Gene

Graphical View of Domain Structure for InterPro Entry

Q03112

UniProtKB/Swiss-Prot:

MDS1_HUMAN :
  • Both zinc finger regions are required for the transcriptional activation of PBX1.
  • Contains 10 C2H2-type zinc fingers.
Domain:
  • Both zinc finger regions are required for the transcriptional activation of PBX1.
Similarity:
  • Contains 10 C2H2-type zinc fingers.
genes like me logo Genes that share domains with MECOM: view

Function for MECOM Gene

Molecular function for MECOM Gene

UniProtKB/Swiss-Prot Function:
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.

Gene Ontology (GO) - Molecular Function for MECOM Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003676 nucleic acid binding IEA --
GO:0003677 DNA binding ISS --
GO:0003700 transcription factor activity, sequence-specific DNA binding IDA 19767769
GO:0005515 protein binding IPI 10856240
GO:0018024 histone-lysine N-methyltransferase activity TAS --
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 Model Products

miRNA for MECOM Gene

miRTarBase miRNAs that target MECOM

Transcription Factor Targets for MECOM Gene

Selected GeneGlobe predicted Target genes for MECOM

Clone Products

  • Addgene plasmids for MECOM

Flow Cytometry Products

No data available for Enzyme Numbers (IUBMB) and HOMER Transcription for MECOM Gene

Localization for MECOM Gene

Subcellular locations from UniProtKB/Swiss-Prot for MECOM Gene

Nucleus. Nucleus speckle.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for MECOM Gene COMPARTMENTS Subcellular localization image for MECOM gene
Compartment Confidence
cytosol 5
nucleus 5
golgi apparatus 4
extracellular 3
cytoskeleton 1
plasma membrane 1

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 IEA,IDA 15897867
GO:0005654 nucleoplasm IDA --
GO:0005737 cytoplasm IDA --
GO:0005794 Golgi apparatus IDA --
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 Cell Signaling Technology pathway for MECOM Gene
1 GeneGo (Thomson Reuters) pathway for MECOM Gene

SIGNOR curated interactions for MECOM Gene

Inactivates:

Gene Ontology (GO) - Biological Process for MECOM Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006351 transcription, DNA-templated IEA --
GO:0006355 regulation of transcription, DNA-templated IEA --
GO:0006915 apoptotic process IEA --
GO:0007275 multicellular organism development IEA --
GO:0030154 cell differentiation IEA --
genes like me logo Genes that share ontologies with MECOM: view

Drugs & Compounds for MECOM Gene

(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

Unigene Clusters for MECOM Gene

MDS1 and EVI1 complex locus:
Representative Sequences:

Clone Products

  • Addgene plasmids for MECOM

Flow Cytometry Products

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
ECgene alternative splicing isoforms for
MECOM

Expression for MECOM Gene

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



NURSA nuclear receptor signaling pathways regulating expression of MECOM Gene:

MECOM

SOURCE GeneReport for Unigene cluster for MECOM Gene:

Hs.744090
genes like me logo Genes that share expression patterns with MECOM: view

Primer Products

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 34 35
  • 99.76 (n)
dog
(Canis familiaris)
Mammalia MECOM 34 35
  • 95.4 (n)
cow
(Bos Taurus)
Mammalia MECOM 34 35
  • 94.19 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia MECOM 35
  • 92 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Mecom 34 16 35
  • 88.29 (n)
oppossum
(Monodelphis domestica)
Mammalia MECOM 35
  • 87 (a)
OneToOne
chicken
(Gallus gallus)
Aves MECOM 34 35
  • 84.92 (n)
lizard
(Anolis carolinensis)
Reptilia MECOM 35
  • 86 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia LOC100496511 34
  • 74.78 (n)
Str.12493 34
zebrafish
(Danio rerio)
Actinopterygii mecom 34 35
  • 65.52 (n)
fruit fly
(Drosophila melanogaster)
Insecta ham 35
  • 27 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea egl-43 35
  • 30 (a)
OneToMany
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes MSN2 35
  • 17 (a)
ManyToMany
MSN4 35
  • 16 (a)
ManyToMany
sea squirt
(Ciona savignyi)
Ascidiacea -- 35
  • 37 (a)
OneToMany
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.322 34
Species where no ortholog for MECOM was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya 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)

Paralogs for MECOM Gene

Paralogs for MECOM Gene

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

Variants for MECOM Gene

Sequence variations from dbSNP and Humsavar for MECOM Gene

SNP ID Clin Chr 03 pos Sequence Context AA Info Type
rs864309722 Radioulnar synostosis with amegakaryocytic thrombocytopenia 2 (RUSAT2) [MIM:616738], Pathogenic 169,100,904(-) CCCAC(A/G)CAGGA reference, missense
rs864309723 Radioulnar synostosis with amegakaryocytic thrombocytopenia 2 (RUSAT2) [MIM:616738], Pathogenic 169,100,918(-) ACGGC(A/G)CTTGA reference, missense
rs864309724 Radioulnar synostosis with amegakaryocytic thrombocytopenia 2 (RUSAT2) [MIM:616738], Pathogenic 169,100,922(-) TAACA(C/T)GGCAC reference, missense
rs386352330 Uncertain significance 169,090,087(-) ACCAG(C/T)GACAA reference, missense
rs1001078 -- 169,256,273(-) TATTG(C/T)ATTAG intron-variant

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)

Relevant External Links for MECOM Gene

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

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

Disorders for MECOM Gene

MalaCards: The human disease database

(13) MalaCards diseases for MECOM Gene - From: ClinVar, Orphanet, Swiss-Prot, DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
radioulnar synostosis with amegakaryocytic thrombocytopenia 2
  • radioulnar synostosis and amegakaryocytic thrombocytopenia 2
radioulnar synostosis with amegakaryocytic thrombocytopenia
  • thrombocytopenia, congenital, with radioulnar synostosis
acute myeloid leukemia with inv3(p21;q26.2) or t(3;3)(p21;q26.2)
  • aml with inv3(p21;q26.2) or t(3;3)(p21;q26.2)
radioulnar synostosis
  • radio-ulnar synostosis type 1
thrombocytopenia 2
  • thrombocytopenia-2
- elite association - COSMIC cancer census association via MalaCards
Search MECOM in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

MDS1_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}.
  • 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}.
  • 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 mutations affecting the gene represented in this entry.

Relevant External Links for MECOM

Genetic Association Database (GAD)
MECOM
Human Genome Epidemiology (HuGE) Navigator
MECOM
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
MECOM
genes like me logo Genes that share disorders with MECOM: view

No data available for Genatlas for MECOM Gene

Publications for MECOM Gene

  1. 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. (Proc. Natl. Acad. Sci. U.S.A. 1996) 2 3 4 64
  2. Genome-wide association study identifies six new loci influencing pulse pressure and mean arterial pressure. (PMID: 21909110) Wain L.V. … van Duijn C.M. (Nat. Genet. 2011) 3 46 64
  3. Genetic variants in novel pathways influence blood pressure and cardiovascular disease risk. (PMID: 21909115) . … Johnson T. (Nature 2011) 3 46 64
  4. Genome-wide association and large-scale follow up identifies 16 new loci influencing lung function. (PMID: 21946350) Soler Artigas M. … Tobin M.D. (Nat. Genet. 2011) 3 46 64
  5. Genomic instability and myelodysplasia with monosomy 7 consequent to EVI1 activation after gene therapy for chronic granulomatous disease. (PMID: 20098431) Stein S. … Grez M. (Nat. Med. 2010) 3 22 64

Products for MECOM Gene

Sources for MECOM Gene

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