MECOM - MDS1 and EVI1 complex locus Gene

Homo sapiens

Also known as EVI1; MDS1; KMT8E; PRDM3; RUSAT2; MDS1-EVI1; AML1-EVI-1

Gene ID: 2122 | Gene type: protein coding

About MECOM

Cytogenetic location: 3q26.2 Genomic coordinates (GRCh38): 3:169,083,507-169,663,712 (from NCBI)

This gene has 20 transcripts (splice variants), 207 orthologues, 1 paralogue and is associated with 95 phenotypes. Broad expression in stomach (RPKM 15.9), kidney (RPKM 12.6) and 18 other tissues.

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, 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]

MECOM Products(16)

mRNA	Protein	Name
NM_001105077.4	NP_001098547.3	histone-lysine N-methyltransferase MECOM isoform a
NM_001105078.4	NP_001098548.2	histone-lysine N-methyltransferase MECOM isoform b
NM_001163999.2	NP_001157471.1	histone-lysine N-methyltransferase MECOM isoform d
NM_001164000.2	NP_001157472.1	histone-lysine N-methyltransferase MECOM isoform e
NM_001205194.2	NP_001192123.1	histone-lysine N-methyltransferase MECOM isoform b
NM_001366466.2	NP_001353395.1	histone-lysine N-methyltransferase MECOM isoform f
NM_001366467.2	NP_001353396.1	histone-lysine N-methyltransferase MECOM isoform g
NM_001366468.2	NP_001353397.1	histone-lysine N-methyltransferase MECOM isoform g
NM_001366469.2	NP_001353398.1	histone-lysine N-methyltransferase MECOM isoform b
NM_001366470.2	NP_001353399.1	histone-lysine N-methyltransferase MECOM isoform d
NM_001366471.2	NP_001353400.1	histone-lysine N-methyltransferase MECOM isoform e
NM_001366472.2	NP_001353401.1	histone-lysine N-methyltransferase MECOM isoform e
NM_001366473.2	NP_001353402.1	histone-lysine N-methyltransferase MECOM isoform h
NM_001366474.2	NP_001353403.1	histone-lysine N-methyltransferase MECOM isoform i
NM_004991.4	NP_004982.2	histone-lysine N-methyltransferase MECOM isoform c
NM_005241.4	NP_005232.2	histone-lysine N-methyltransferase MECOM isoform b

Gene Ontology

Molecular Function
Biological Process
Cellular Component

Molecular Function GO Annotation	Evidence	Reference	Source
enables DNA-binding transcription factor activity	IDA IDA: Inferred from direct assay	19767769	GOA
enables protein binding	IPI IPI: Inferred from physical interaction	10856240	GOA
NOT enables protein homodimerization activity	IDA IDA: Inferred from direct assay	15897867	GOA
enables protein homodimerization activity	IDA IDA: Inferred from direct assay	15897867	GOA

Biological Process GO Annotation	Evidence	Reference	Source
involved in negative regulation of DNA-templated transcription	IDA IDA: Inferred from direct assay	10856240	GOA
involved in negative regulation of JNK cascade	IMP IMP: Inferred from mutant phenotype	10856240	GOA
involved in negative regulation of programmed cell death	IMP IMP: Inferred from mutant phenotype	10856240	GOA
NOT involved in negative regulation of transforming growth factor beta receptor signaling pathway	IDA IDA: Inferred from direct assay	15897867	GOA
involved in positive regulation of DNA-templated transcription	IDA IDA: Inferred from direct assay	11568182	GOA
involved in regulation of cell cycle	IDA IDA: Inferred from direct assay	11568182	GOA

Cellular Component GO Annotation	Evidence	Reference	Source
part of histone deacetylase complex	IDA IDA: Inferred from direct assay	11568182	GOA
located in nuclear speck	IDA IDA: Inferred from direct assay	11568182	GOA
located in nucleus	IDA IDA: Inferred from direct assay	15897867	GOA

EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

MECOM Protein Structure

zf-C2H2

zf-H2C2_2

zf-C2H2

zf-H2C2_2

0
200
400
600
800
1051 a.a.

Protein Preferred Names

Protein Names

histone-lysine N-methyltransferase MECOM

AML1-EVI-1 fusion protein

MECOM Protein-protein interaction Information

Type Cross Intra	Protein Name	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	Reference
Intra	MECOM	Q03112	RABGAP1L	Homo sapiens	Q5R372-2	Y2H Array	25814554
Intra	MECOM	Q03112	RABGAP1L	Homo sapiens	Q5R372-2	Lumier	25814554
Intra	MECOM	Q03112	RABGAP1L	Homo sapiens	Q5R372-2	Validated Y2H	25814554
Cross	MECOM	Q03112	Ctbp2	Mus musculus	P56546	Y2H	11328817
Cross	MECOM	Q03112	Ctbp2	Mus musculus	P56546	Anti Tag CoIP	11328817
Cross	MECOM	Q03112	Ctbp2	Mus musculus	P56546	Y2H	17635584
Intra	MECOM	Q03112	UXT	Homo sapiens	Q9UBK9	Y2H	17635584
Intra	MECOM	Q03112	UXT	Homo sapiens	Q9UBK9	Pull Down	17635584
Intra	MECOM	Q03112	RBBP4	Homo sapiens	Q09028	X-Ray Diffraction	30462309
Intra	MECOM	Q03112	RBBP4	Homo sapiens	Q09028	Anti Bait CoIP	30462309
Intra	MECOM	Q03112	FOS	Homo sapiens	P01100	Anti Bait CoIP	22308434

Cross: Cross-species interaction Intra: Intraspecies interaction

Related Diseases

Diseases

Alias

Radioulnar Synostosis With Amegakaryocytic Thrombocytopenia 2

RUSAT2

Radioulnar Synostosis And Amegakaryocytic Thrombocytopenia 2

Radioulnar Synostosis

Radio-Ulnar Synostosis Type 1

Acute Myeloid Leukemia With Inv3(P21;Q26.2) Or T(3;3)(P21;Q26.2)

Aml With Inv(3)(Q21q26.2) Or T(3	3)(Q21
Q26.2)	Acute Myeloid Leukemia With Inv(3)(Q21q26.2) Or T(3
3)(Q21	Q26.2)
Aml With Inv3(P21	Q26.2) Or T(3
3)(P21	Q26.2)
Aml With Inv3(Q21	Q26.2) Or T(3
3)(Q21	Q26.2)
Acute Myeloid Leukemia With Inv3(Q21	Q26.2) Or T(3
3)(Q21	Q26.2)

Radioulnar Synostosis, Nonsyndromic

RUS	Radioulnar Synostosis, Nonsyndromic, Susceptibility To
Radioulnar Synostosis, Non-Syndromic

Radio-Ulnar Synostosis-Amegakaryocytic Thrombocytopenia Syndrome

Atrus Syndrome

Hepatocellular Carcinoma

Liver Cancer	Primary Liver Cancer
HCC	Hepatoma
Malignant Neoplasm Of Liver	Liver Neoplasms
Cancer, Hepatocellular	Liver Cell Carcinoma
Lcc	Hepatoblastoma, Somatic
Hepatic Cancer	Primary Malignant Neoplasm Of Liver
Rare Tumor Of Liver And Intrahepatic Biliary Tract	Hepatocellular Carcinoma, Somatic
Hepatocellular Carcinoma, Childhood Type, Somatic	Hepatocellular Cancer, Somatic
Ca Liver - Primary	Hepatic Neoplasm
Malignant Hepato-Biliary Neoplasm	Malignant Neoplasm Of Liver, Not Specified As Primary Or Secondary
Malignant Neoplasm Of Liver, Primary	Malignant Tumor Of Liver
Neoplasm Of Liver	Non-Resectable Primary Hepatic Malignant Neoplasm
Resectable Malignant Neoplasm Of Liver	Resectable Malignant Neoplasm Of The Liver
Primary Liver Carcinoma	Primary Malignant Liver Neoplasm
Primary Cancer Of Liver	Primary Tumor Of The Liver
Rare Tumor Of Liver And Ibt	Hepatocellular Cancer
Neoplasm Of The Liver	Carcinoma, Hepatocellular
Hepatomas	Liver Neoplasm
Liver Carcinoma	Liver And Intrahepatic Biliary Tract Carcinoma
Malignant Hepatobiliary Neoplasm	Adult Primary Hepatocellular Carcinoma
Hepatoblastoma	Carcinoma Of Liver
Malignant Liver Tumour	Malignant Hepatic Tumour

Dyskeratosis Congenita, Autosomal Dominant 1

DKCA1	Dyskeratosis Congenita, Scoggins Type
Autosomal Dominant Dyskeratosis Congenita 1	Dyskeratosis Congenita, Autosomal Dominant, Type 1
Dyskeratosis Congenita, Autosomal Dominant

Myelodysplastic Syndrome

Myelodysplastic Syndromes	Myelodysplasia
MDS	Myelodysplastic Syndrome Included
Myelodysplastic Syndrome, Susceptibility To, Included	Myelodysplastic Syndrome, Somatic
Myelodysplastic Syndrome, Susceptibility To

Leukemia

Leukemias	Leukaemia, Unspecified, Without Mention Of Remission
Aleukemic Leukaemia	Chronic Leukaemia
Subacute Leukaemia	Leukaemia Disorder
Leukaemia Nos

Thrombocytopenia

Low Platelet Count	Low Platelets
Decreased Platelets	Platelet Dysfunction Nos

Dyskeratosis Congenita

Dyskeratosis Congenita Autosomal Dominant	Dc
Dkc	Zinsser-Engman-Cole Syndrome
Dyskeratosis Congenita, Autosomal Dominant	Autosomal Dominant Dyskeratosis Congenita
Dkca	Dyskeratosis Congenita Scoggins Type
Zinsser-Cole-Engman Syndrome	X-Linked Dyskeratosis Congenita
Hoyeraal-Hreidarsson Syndrome

Myeloid Leukemia

Myeloid Leukaemia	Leukaemia Myelogenous
Leukemia Myelogenous	Myeloid Granulocytic Leukaemia
Myeloid Granulocytic Leukemia	Non-Lymphocytic Leukemia
Leukemia, Myeloid	Granulocytic Leukaemia
Myelogenous Leukaemia	Myeloid Leukaemia, Unspecified, Without Mention Of Remission

Synostosis

Thrombocytopenia 2

THC2	Thrombocytopenia, Autosomal Dominant, 2
Thrombocytopenia Autosomal Dominant 2	Thrombocytopenia-2

Premature Menopause

Primary Ovarian Insufficiency	Premature Ovarian Failure
Hypergonadotropic Hypogonadism	Premature Ovarian Insufficiency
Menopause - Premature	Menopause Praecox
Menopause Premature	Menopause, Premature
Female Hypergonadotropic Hypogonadism	Hypergonadotrophic Ovarian Failure
Primary Female Hypogonadism	Pof - [Premature Ovarian Failure]
Ovarian Failure	Ovarian Secretion Suppression
Ovary Hyposecretion	Ovary Secretion Deficiency
Premature Menopause Nos

Granulomatous Disease, Chronic, X-Linked

CGDX	Chronic Granulomatous Disease, X-Linked
X-Linked Chronic Granulomatous Disease	Cgd
Cytochrome B-Negative Granulomatous Disease, Chronic, X-Linked	Cdgx
X-Linked Chronic Cytochrome B-Negative Granulomatous Disease	Chronic Granulomatous Disease Cytochrome B-Negative X-Linked
Chronic Granulomatous Disease Cytochrome B-Positive X-Linked	Granulomatous Disease, Chronic, X-Linked, Variant

Pancytopenia

Phagocyte Bactericidal Dysfunction

Phagocytic Dysfunction

Brachyolmia Type 4 With Mild Epiphyseal And Metaphyseal Changes

Spondyloepimetaphyseal Dysplasia, Pakistani Type	Spondyloepimetaphyseal Dysplasia, Papss2 Type
BCYM4	Semd, Pakistani Type
Spondylodysplasia And Premature Pubarche	Brachyolmia 4 With Mild Epiphyseal And Metaphyseal Changes
Spondyloepimetaphyseal Dysplasia Pakistani Type	Semd Pakistani Type
Spondylometaepiphyseal Dysplasia Pakistani Type	Brachyolmia, Type 4, With Mild Epiphyseal And Metaphyseal Changes

Hematologic Cancer

Hematologic Neoplasm	Hematologic Neoplasms
Hematologic Malignancies	Blood Cancer
Hematologic Malignancy	Hematological Tumors
Hematopoietic And Lymphoid System Tumor	Hematopoietic Cancer
Hematopoietic Neoplasm	Hematopoietic Tumors
Malignant Hematopoietic Neoplasm	Liquid Tumor
Hematopoietic Neoplasms

Leukemia, Chronic Myeloid

Chronic Myeloid Leukemia	Chronic Myelogenous Leukemia
CML	Chronic Granulocytic Leukemia
Leukemia, Philadelphia Chromosome-Positive, Resistant To Imatinib	Chronic Myeloid Leukaemia
Chronic Granulocytic Leukaemia	Chronic Myelogenous Leukaemia
Myeloid Leukemia, Chronic	Leukemia, Chronic Myelogenous
Leukemia, Chronic Myeloid, Philadelphia Chromosome Positive, Somatic	Cml - Chronic Myelogenous Leukemia
Cgl	Chronic Myelocytic Leukemia
Leukemia, Chronic Myeloid, Atypical	ACML
Atypical Chronic Myeloid Leukemia Bcr-Abl1 Negative	Myeloid Leukemia Chronic
Leukemia, Myeloid, Chronic	Leukemia, Myeloid, Chronic, Atypical, Bcr-Abl Negative
Cml- [Chronic Myeloid Leukaemia]	Cgl - [Chronic Granulocytic Leukaemia]
Chronic Myelocytic Leukaemia

Amegakaryocytic Thrombocytopenia, Congenital

Congenital Amegakaryocytic Thrombocytopenia	CAMT
Thrombocytopenia, Congenital Amegakaryocytic	Congenital Amegakaryocytic Thrombocytopenic Purpura
Thrombocytopenia Congenital Amegakaryocytic	Thrombocytopenia, Amegakaryocytic, Congenital

Severe Combined Immunodeficiency, X-Linked

X-Linked Severe Combined Immunodeficiency	SCIDX1
XSCID	Scidx
X-Linked Scid	X-Scid
Severe Combined Immunodeficiency, X-Linked, T Cell-Negative, B Cell-Positive, Nk Cell-Negative	Scid, X-Linked
Immunodeficiency 4	Imd4
Gamma Chain Deficiency	Scid-X1
X-Linked Combined Immunodeficiency Diseases	Thymic Epithelial Hypoplasia
Severe Combined Immunodeficiency T- B+ Due To Gamma Chain Deficiency	Severe Combined Immunodeficiency T- B+, X-Linked
Il2rg Scid, T- B+ Nk-	T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency
T-B+ Scid Due To Gamma Chain Deficiency	T-B+ Severe Combined Immunodeficiency, X-Linked
Severe Combined Immunodeficiency X-Linked T-Cell-Negative/B-Cell-Positive/Nk-Cell-Negative	Agammaglobulinemia Swiss Type
Scid X-Linked	Severe Combined Immunodeficiency X-Linked T Cell-Negative/B Cell-Positive/Nk Cell-Negative
Severe Combined Immunodeficiency X-Linked T-Cell Negative/B-Cell Positive/Nk-Cell Negative	Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency

Ovarian Cancer

Ovarian Carcinoma	Ovarian Neoplasm
Malignant Tumour Of Ovary	Cancer Of The Ovary
Epithelial Ovarian Cancer	Neoplasm Of Ovary
Ovarian Neoplasms	Ovarian Cancers
Malignant Neoplasm Of Ovary	Primary Malignant Neoplasm Of Ovary
Ovarian Cancer, Somatic	Malignant Ovarian Tumor
Ovary Neoplasm	Primary Ovarian Cancer
Tumor Of The Ovary	Malignant Neoplasm Of The Ovary
Malignant Tumor Of The Ovary	Ovarian Malignant Tumor
OC	Ovarian Carcinomas
Cancer, Ovarian	Cancer Of Ovary
Ovary Cancer	Ca Ovary

Chronic Granulomatous Disease

Cgd	Granulomatous Disease, Chronic
Autosomal Recessive Chronic Granulomatous Disease	X-Linked Chronic Granulomatous Disease
Bridges-Good Syndrome	Congenital Dysphagocytosis
Quie Syndrome	Chronic Septic Granulomatosis
Chronic Granulomatous Disorder	Granulomatous Disease Chronic
Granulomatous Disease, Chronic, X-Linked

Leukemia, Acute Myeloid

Acute Myeloid Leukemia	Leukemia, Acute Myelogenous
Acute Myelogenous Leukemia	AML
Leukemia, Acute Myeloid, Susceptibility To	Acute Myeloblastic Leukemia
Leukemia, Acute Myeloid, Reduced Survival In, Somatic	Acute Myeloid Leukaemia
Leukemia, Myelocytic, Acute	Therapy Related Acute Myeloid Leukemia And Myelodysplastic Syndrome
Secondary Aml	Acute Myelocytic Leukemia
Acute Myeloid Leukemia, Somatic	Leukemia, Acute Myeloid, Somatic
Myeloid Leukemia, Acute, M4/M4eo Subtype, Somatic	Acute Myeloblastic Leukaemia
Acute Myelogenous Leukaemia	Aml - Acute Myeloid Leukemia
Acute Myeloid Leukemia With Cebpa Somatic Mutations	Aml With Cebpa Somatic Mutations
Inherited Acute Myeloid Leukemia	Familial Aml
Inherited Aml	Pure Familial Aml
Pure Familial Acute Myeloid Leukemia	Secondary Acute Myeloid Leukemia
Therapy-Related Aml And Myelodysplastic Syndrome	Acute Myeloid Leukemia, Secondary
Acute Non-Lymphoblastic Leukemia	Acute Non-Lymphocytic Leukemia
Acute Biphenotypic Leukemia	Acute Undifferentiated Leukemia
Acute Myeloblastic Leukaemia With Multilineage Dysplasia	Acute Myeloid Leukaemia With Multilineage Dysplasia Without Mention Of Remission
Acute Myeloid Leukaemia With Myelodysplasia-Related Features

Diseases	Alias
Waldenstroem'S Macroglobulinemia	Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma

Related Agents

Pre-clinical Phase

Bioactive Molecules (1)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS08275	MECOM Human Pre-designed siRNA Set A	Pre-designed Sets	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Mus musculus	MECOM	MGD	MGI:95457
Bos taurus	MECOM	VGNC	VGNC:31343
Rattus norvegicus	MECOM	RGD	RGD:1310997
Canis familiaris	MECOM	VGNC	VGNC:43114
Macaca mulatta	MECOM	VGNC	VGNC:74635
Felis catus	MECOM	VGNC	VGNC:63429

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