AlphaFold predicted structure
MECOM · Q03112
Mean pLDDT
50.4/ 100
Low
1,230 residues
Confidence breakdown
- Very high(≥ 90)0%
- Confident(70–90)25%
- Low(50–70)8%
- Very low(< 50)66%
Open interactive 3D viewer
AlphaFold (Jumper et al., 2021) · CC BY 4.0
MECOM
Chr 3q26.2MDS1 and EVI1 complex locus
- Aliases:
- MDS1-EVI1, PRDM3, KMT8E
- MANE:
- ENST00000651503.2
Annotations refreshed 1 month ago.
Predicted protein structure
Clinical relevance (Genomics England PanelApp)
Diagnostic Grade (Green)
Bleeding and platelet disorders
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownCytopenia - NOT Fanconi anaemia
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedDDG2P
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownFetal anomalies
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownInherited bleeding disorders
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownLimb disorders
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedPrimary immunodeficiency or monogenic inflammatory bowel disease
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Disease associations (Open Targets)
Radio-ulnar synostosis - amegakaryocytic thrombocytopenia
0.77radioulnar synostosis with amegakaryocytic thrombocytopenia 2
0.73MECOM-associated syndrome
0.62congenital radioulnar synostosis
0.57hypertensive disorder
0.49glaucoma
0.46preeclampsia
0.45open-angle glaucoma
0.44asthma
0.43prostate carcinoma
0.43
Score is the Open Targets composite evidence score (0-1). Higher = stronger gene-disease association.
Protein function (UniProt)
Histone-lysine N-methyltransferase MECOM
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
Diseases associated with MECOM
Curated MONDO disease pages that list MECOM among their top associated genes.