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MECOM Gene(Protein Coding)

MDS1 And EVI1 Complex Locus

GCID:
GC03M169083
GIFtS:
52
Genes Participants
UDN Logo

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
  • MDS1 And EVI1 Complex Locus Protein 3
  • Ecotropic Viral Integration Site 1 2
  • Myelodysplasia Syndrome 1 Protein 4
  • AML1-EVI-1 Fusion Protein 3
  • Myelodysplasia Syndrome 1 2
  • 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 Acute Myeloid Leukemia With Inv3(P21;Q26.2) Or T(3;3)(P21;Q26.2). Among its related pathways are Endometrial cancer and Pathways in cancer. 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 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.

Gene Wiki entry for MECOM Gene

Additional gene information for MECOM Gene

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

Genomics for MECOM Gene

Products:

  1. Regulatory Element

GeneHancer (GH) Regulatory Elements for MECOM Gene

Promoters and enhancers for MECOM Gene
GeneHancer (GH) Identifier GH Type GH
Score		 GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites		 Gene Targets
GH03J169657 Promoter/Enhancer 2.7 EPDnew FANTOM5 Ensembl ENCODE dbSUPER 653.9 +0.1 118 12.4 PKNOX1 FOXA2 ARNT ARID4B NEUROD1 SIN3A FEZF1 DMAP1 ZNF2 ZBTB7B MECOM MYNN PHC3 SEC62-AS1 ENSG00000270096 PRKCI ENSG00000239628 RPL22P1 SLC7A14 ACTRT3
GH03J169141 Promoter/Enhancer 2 EPDnew Ensembl ENCODE 650 +519.1 519105 6.8 HDGF PKNOX1 SMAD1 ARNT SIN3A FEZF1 ZNF2 POLR2B ZNF213 E2F8 MECOM MYNN TERC GC03M169131 LOC105374206
GH03J170418 Promoter/Enhancer 2.1 EPDnew FANTOM5 Ensembl ENCODE dbSUPER 4.5 -756.4 -756439 4.1 CTCF USF1 SAP130 MAX NFYC MIER2 NR2F2 ZNF664 POLR2A ZBTB33 CLDN11 ENSG00000285218 MECOM SLC7A14 MIR6828 ENSG00000242578
GH03J169579 Enhancer 1 UCNEbase ENCODE dbSUPER 5.7 +84.3 84297 0.7 PKNOX1 ZBTB17 MECOM GC03P169608 RPL22P1
GH03J168988 Enhancer 1 UCNEbase 5 +674.8 674833 0.2 ELF3 FOXA2 MLX ZSCAN9 RARA ZNF614 CREM MIXL1 ZBTB25 MIER2 MECOM LINC01997 ENSG00000273177
- 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 UCSC Golden Path with GeneCards custom track

Genomic Locations for MECOM Gene

Genomic Locations for MECOM Gene
chr3:169,083,499-169,663,786
(GRCh38/hg38)
Size:
580,288 bases
Orientation:
Minus strand
chr3:168,801,287-169,381,563
(GRCh37/hg19)
Size:
580,277 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

Products:

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

    Protein Symbol:
    Q03112-MECOM_HUMAN
    Recommended name:
    MDS1 and EVI1 complex locus protein
    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=Translation N-terminally shortened.; 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=Translation N-terminally extended.; Evidence={ECO:0000305};

    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:

Antibody Products

  • Abcam antibodies for MECOM
  • Boster Bio Antibodies for MECOM

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:
ProtoNet:

Suggested Antigen Peptide Sequences for MECOM Gene

GenScript: Design optimal peptide antigens:

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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  2. CRISPR
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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.

Phenotypes From GWAS Catalog for MECOM Gene

Gene Ontology (GO) - Molecular Function for MECOM Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000981 RNA polymerase II transcription factor activity, sequence-specific DNA binding ISA --
GO:0003676 nucleic acid binding IEA --
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 Model Products

CRISPR Products

miRNA for MECOM Gene

miRTarBase miRNAs that target MECOM

Transcription Factor Targets for MECOM Gene

Selected GeneGlobe predicted Target genes for MECOM

Inhibitory RNA Products

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

Clone Products

  • Addgene plasmids for MECOM

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
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 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 IDA,IEA 15897867
GO:0005654 nucleoplasm TAS --
GO:0005829 cytosol TAS --
GO:0016607 nuclear speck IDA,IEA 11568182
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
1 Cell Signaling Technology pathway for MECOM Gene

SIGNOR curated interactions for MECOM Gene

Activates:
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:0006357 regulation of transcription by RNA polymerase II IEA --
GO:0006915 apoptotic process IEA --
GO:0007275 multicellular organism development IEA --
genes like me logo Genes that share ontologies with MECOM: view

Drugs & Compounds for MECOM Gene

Products:

  1. Drug

(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

Products:

  1. CRISPR
  2. miRNA
  3. Inhibitory RNA
  4. Clone

mRNA/cDNA for MECOM Gene

(24) REFSEQ mRNAs :
(25) Additional mRNA sequences :
(120) Selected AceView cDNA sequences:
(19) Ensembl transcripts including schematic representations, and UCSC links where relevant :

Unigene Clusters for MECOM Gene

MDS1 and EVI1 complex locus:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

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

Clone Products

  • 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
ECgene alternative splicing isoforms for
MECOM

Expression for MECOM Gene

Products:

  1. Primer
  2. Gene Expression Assay

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

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



NURSA nuclear receptor signaling pathways regulating expression of MECOM Gene:

MECOM

SOURCE GeneReport for Unigene cluster for MECOM Gene:

Hs.744090

Evidence on tissue expression from TISSUES for MECOM Gene

  • Kidney(4.1)
  • Pancreas(4.1)
  • Lung(4)

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

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 33
  • 99.76 (n)
 OneToOne
dog
(Canis familiaris)
 Mammalia MECOM 34 33
  • 95.4 (n)
 OneToOne
cow
(Bos Taurus)
 Mammalia MECOM 34 33
  • 94.19 (n)
 OneToOne
platypus
(Ornithorhynchus anatinus)
 Mammalia MECOM 34
  • 92 (a)
 OneToOne
mouse
(Mus musculus)
 Mammalia Mecom 16 34 33
  • 88.29 (n)
oppossum
(Monodelphis domestica)
 Mammalia MECOM 34
  • 87 (a)
 OneToOne
chicken
(Gallus gallus)
 Aves MECOM 34 33
  • 84.92 (n)
 OneToOne
lizard
(Anolis carolinensis)
 Reptilia MECOM 34
  • 86 (a)
 OneToOne
tropical clawed frog
(Silurana tropicalis)
 Amphibia LOC100496511 33
  • 74.78 (n)
Str.12493 33
zebrafish
(Danio rerio)
 Actinopterygii mecom 34 33
  • 65.52 (n)
 OneToOne
fruit fly
(Drosophila melanogaster)
 Insecta ham 34
  • 27 (a)
 OneToMany
worm
(Caenorhabditis elegans)
 Secernentea egl-43 34
  • 30 (a)
 OneToMany
baker's yeast
(Saccharomyces cerevisiae)
 Saccharomycetes MSN2 34
  • 17 (a)
 ManyToMany
MSN4 34
  • 16 (a)
 ManyToMany
sea squirt
(Ciona savignyi)
 Ascidiacea -- 34
  • 37 (a)
 OneToMany
Cin.322 33
sea squirt
(Ciona intestinalis)
 Ascidiacea Cin.322 33
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)
Aminode:
Evolutionary constrained regions (ECRs) for MECOM: view image

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

Products:

  1. SNP Genotyping and Copy Number Assay

Sequence variations from dbSNP and Humsavar for MECOM Gene

SNP ID Clin Chr 03 pos Variation AA Info Type
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
rs386352330 uncertain-significance, not provided 169,090,087(-) A/G coding_sequence_variant, missense_variant
rs1000000858 -- 169,119,448(-) G/C 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)

Additional Variant Information for MECOM Gene

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

SNP Genotyping and Copy Number Assay Products

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

Disorders for MECOM Gene

MalaCards: The human disease database

(14) MalaCards diseases for MECOM Gene - From: HGMD, LncRNADisease, OMIM, ClinVar, GTR, Orphanet, Swiss-Prot, DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
radioulnar synostosis with amegakaryocytic thrombocytopenia 2
  • rusat2
radio-ulnar synostosis-amegakaryocytic thrombocytopenia syndrome
  • atrus syndrome
acute myeloid leukemia with inv3(p21;q26.2) or t(3;3)(p21;q26.2)
  • acute myeloid leukemia with inv3(q21;q26.2) or t(3;3)(q21;q26.2)
radioulnar synostosis
  • congenital radioulnar synostosis
thrombocytopenia 2
  • thc2
- 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 mutations 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

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

No data available for Genatlas for MECOM Gene

Publications for MECOM Gene

  1. 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 58
  2. 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 58
  3. 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 58
  4. Structurally altered Evi-1 protein generated in the 3q21q26 syndrome. (PMID: 8700545) Ogawa S … Hirai H (Oncogene 1996) 3 4 22 58
  5. Unique expression of the human Evi-1 gene in an endometrial carcinoma cell line: sequence of cDNAs and structure of alternatively spliced transcripts. (PMID: 2115646) Morishita K … Ihle JN (Oncogene 1990) 2 3 4 58

Products for MECOM Gene

  • Addgene plasmids for MECOM

Sources for MECOM Gene

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