MECOM Chromosome 3

MDS1 and EVI1 complex locus

37 variants 37 Health Risk

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What This Gene Does

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]

Gene Info

Gene Group

"Zinc fingers C2H2-type|PR/SET domain family|Putative lysine methyltransferases"

Locus Type

gene with protein product

Location

3q26.2

Ensembl

ENSG00000085276

Associated Conditions (9)

Inborn genetic diseases

Radioulnar synostosis with amegakaryocytic thrombocytopenia 2

MECOM-related disorder

Abnormal bleeding

Thrombocytopenia

Premature ovarian failure

Radioulnar synostosis

Hereditary cancer-predisposing syndrome

MECOM-associated syndrome

Key Variants

RS1309343892

Conflicting classifications of pathogenicity

Inborn genetic diseases, Radioulnar synostosis with amegakaryocytic thrombocytopenia 2, Inborn genetic diseases

Health Risk

RS144085622

Conflicting classifications of pathogenicity

Health Risk

RS148539966

Conflicting classifications of pathogenicity

Health Risk

RS200049869

Conflicting classifications of pathogenicity

Radioulnar synostosis with amegakaryocytic thrombocytopenia 2, Radioulnar synostosis with amegakaryocytic thrombocytopenia 2

Health Risk

RS200073118

Conflicting classifications of pathogenicity

Inborn genetic diseases, Inborn genetic diseases

Health Risk

RS200965422

Conflicting classifications of pathogenicity

Inborn genetic diseases, Inborn genetic diseases

Health Risk

RS201320721

Conflicting classifications of pathogenicity

Health Risk

RS371128391

Conflicting classifications of pathogenicity

Inborn genetic diseases, Inborn genetic diseases

Health Risk

RS371991943

Conflicting classifications of pathogenicity

Health Risk

RS374412171

Conflicting classifications of pathogenicity

Health Risk

RS557276848

Conflicting classifications of pathogenicity

Health Risk

RS560838174

Conflicting classifications of pathogenicity

Inborn genetic diseases, Inborn genetic diseases

Health Risk

All Variants (37)

RSID	Category	Clinical Significance	Conditions
RS1309343892	Health Risk	Conflicting classifications of pathogenicity	Inborn genetic diseases, Radioulnar synostosis with amegakaryocytic thrombocytopenia 2, Inborn genetic diseases
RS144085622	Health Risk	Conflicting classifications of pathogenicity	MECOM-related disorder, Inborn genetic diseases, MECOM-related disorder
RS148539966	Health Risk	Conflicting classifications of pathogenicity	—
RS200049869	Health Risk	Conflicting classifications of pathogenicity	Radioulnar synostosis with amegakaryocytic thrombocytopenia 2, Radioulnar synostosis with amegakaryocytic thrombocytopenia 2
RS200073118	Health Risk	Conflicting classifications of pathogenicity	Inborn genetic diseases, Inborn genetic diseases
RS200965422	Health Risk	Conflicting classifications of pathogenicity	Inborn genetic diseases, Inborn genetic diseases
RS201320721	Health Risk	Conflicting classifications of pathogenicity	—
RS371128391	Health Risk	Conflicting classifications of pathogenicity	Inborn genetic diseases, Inborn genetic diseases
RS371991943	Health Risk	Conflicting classifications of pathogenicity	—
RS374412171	Health Risk	Conflicting classifications of pathogenicity	MECOM-related disorder, Inborn genetic diseases, MECOM-related disorder
RS557276848	Health Risk	Conflicting classifications of pathogenicity	MECOM-related disorder, Inborn genetic diseases, MECOM-related disorder
RS560838174	Health Risk	Conflicting classifications of pathogenicity	Inborn genetic diseases, Inborn genetic diseases
RS572906212	Health Risk	Conflicting classifications of pathogenicity	Inborn genetic diseases, Inborn genetic diseases
RS745797691	Health Risk	Conflicting classifications of pathogenicity	Abnormal bleeding, Thrombocytopenia, Inborn genetic diseases
RS750695074	Health Risk	Conflicting classifications of pathogenicity	Inborn genetic diseases, Inborn genetic diseases
RS753395114	Health Risk	Conflicting classifications of pathogenicity	Inborn genetic diseases, Inborn genetic diseases
RS767306816	Health Risk	Conflicting classifications of pathogenicity	Premature ovarian failure, Premature ovarian failure
RS779967808	Health Risk	Conflicting classifications of pathogenicity	Inborn genetic diseases, Inborn genetic diseases
RS780293564	Health Risk	Conflicting classifications of pathogenicity	MECOM-related disorder, Inborn genetic diseases, MECOM-related disorder
RS1240852654	Health Risk	Likely pathogenic	Radioulnar synostosis with amegakaryocytic thrombocytopenia 2, Radioulnar synostosis with amegakaryocytic thrombocytopenia 2
RS1475580175	Health Risk	Likely pathogenic	Radioulnar synostosis with amegakaryocytic thrombocytopenia 2, Radioulnar synostosis with amegakaryocytic thrombocytopenia 2
RS1577005203	Health Risk	Likely pathogenic	Thrombocytopenia, Thrombocytopenia
RS2148890956	Health Risk	Likely pathogenic	Radioulnar synostosis, Radioulnar synostosis
RS2148891074	Health Risk	Likely pathogenic	Radioulnar synostosis, Radioulnar synostosis
RS2549269042	Health Risk	Likely pathogenic	—
RS2549269204	Health Risk	Likely pathogenic	Radioulnar synostosis with amegakaryocytic thrombocytopenia 2, Radioulnar synostosis with amegakaryocytic thrombocytopenia 2
RS864309722	Health Risk	Likely pathogenic	Radioulnar synostosis with amegakaryocytic thrombocytopenia 2, Radioulnar synostosis with amegakaryocytic thrombocytopenia 2
RS1560118923	Health Risk	Pathogenic	—
RS188482846	Health Risk	Pathogenic	—
RS2148891008	Health Risk	Pathogenic	Radioulnar synostosis, Radioulnar synostosis, Radioulnar synostosis
RS2148891037	Health Risk	Pathogenic	Radioulnar synostosis, Radioulnar synostosis
RS2148947240	Health Risk	Pathogenic	Radioulnar synostosis with amegakaryocytic thrombocytopenia 2, Radioulnar synostosis with amegakaryocytic thrombocytopenia 2
RS2149078493	Health Risk	Pathogenic	—
RS2549200429	Health Risk	Pathogenic	Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2549268925	Health Risk	Pathogenic	MECOM-associated syndrome, MECOM-associated syndrome
RS864309723	Health Risk	Pathogenic	Radioulnar synostosis with amegakaryocytic thrombocytopenia 2, Radioulnar synostosis with amegakaryocytic thrombocytopenia 2
RS864309724	Health Risk	Pathogenic/Likely pathogenic	Radioulnar synostosis with amegakaryocytic thrombocytopenia 2, MECOM-related disorder, MECOM-associated syndrome