MECOM Gene

MECOM Gene

<table class="infobox infobox-gene">
<tr>
<th class="infobox-header" colspan="2">MECOM Gene</th>
</tr>
<tr>
<td class="label">Attribute</td>
<td>Value</td>
</tr>
<tr>
<td class="label">Gene Symbol</td>
<td>MECOM</td>
</tr>
<tr>
<td class="label">Gene Name</td>
<td>MDS1 and EVI1 Complex (EVI1)</td>
</tr>
<tr>
<td class="label">Chromosomal Location</td>
<td>3q26.2</td>
</tr>
<tr>
<td class="label">NCBI Gene ID</td>
<td>[2122](https://www.ncbi.nlm.nih.gov/gene/2122)</td>
</tr>
<tr>
<td class="label">Ensembl ID</td>
<td>[ENSG00000085276](https://www.ensembl.org/Homo_sapiens/Gene/Summary?g=ENSG00000085276)</td>
</tr>
<tr>
<td class="label">UniProt ID</td>
<td>[Q03112](https://www.uniprot.org/uniprot/Q03112)</td>
</tr>
<tr>
<td class="label">Disease</td>
<td>Notes</td>
</tr>
<tr>
<td class="label">ALS</td>
<td>| Myeloid Leukemia</td>
</tr>
<tr>
<td class="label">Associated Diseases</td>
<td><a href="/wiki/cancer" style="color:#ef9a9a">Cancer</a>, <a href="/wiki/tumor" style="color:#ef9a9a">Tumor</a></td>
</tr>
<tr>
<td class="label">KG Connections</td>
<td><a href="/atlas" style="color:#4fc3f7">11 edges</a></td>
</tr>
</table>

Introduction

Mecom Gene is an important component in the neurobiology of neurodegenerative diseases. This page provides detailed information about its structure, function, and role in disease processes.

Overview

...

MECOM Gene

<table class="infobox infobox-gene">
<tr>
<th class="infobox-header" colspan="2">MECOM Gene</th>
</tr>
<tr>
<td class="label">Attribute</td>
<td>Value</td>
</tr>
<tr>
<td class="label">Gene Symbol</td>
<td>MECOM</td>
</tr>
<tr>
<td class="label">Gene Name</td>
<td>MDS1 and EVI1 Complex (EVI1)</td>
</tr>
<tr>
<td class="label">Chromosomal Location</td>
<td>3q26.2</td>
</tr>
<tr>
<td class="label">NCBI Gene ID</td>
<td>[2122](https://www.ncbi.nlm.nih.gov/gene/2122)</td>
</tr>
<tr>
<td class="label">Ensembl ID</td>
<td>[ENSG00000085276](https://www.ensembl.org/Homo_sapiens/Gene/Summary?g=ENSG00000085276)</td>
</tr>
<tr>
<td class="label">UniProt ID</td>
<td>[Q03112](https://www.uniprot.org/uniprot/Q03112)</td>
</tr>
<tr>
<td class="label">Disease</td>
<td>Notes</td>
</tr>
<tr>
<td class="label">ALS</td>
<td>| Myeloid Leukemia</td>
</tr>
<tr>
<td class="label">Associated Diseases</td>
<td><a href="/wiki/cancer" style="color:#ef9a9a">Cancer</a>, <a href="/wiki/tumor" style="color:#ef9a9a">Tumor</a></td>
</tr>
<tr>
<td class="label">KG Connections</td>
<td><a href="/atlas" style="color:#4fc3f7">11 edges</a></td>
</tr>
</table>

Introduction

Mecom Gene is an important component in the neurobiology of neurodegenerative diseases. This page provides detailed information about its structure, function, and role in disease processes.

Overview

MECOM (EVI1) is a transcription factor involved in hematopoiesis and development. It regulates gene expression through multiple DNA-binding domains. MECOM variants are associated with PD risk, and the gene is implicated in neuronal survival and [apoptosis](/entities/apoptosis). MECOM encodes a zinc finger transcription factor with multiple protein isoforms. The gene is named for its involvement in myeloid leukemia (ecotropic virus integration site 1). GWAS have identified MECOM variants associated with PD risk, though the mechanism is unclear. In [neurons](/entities/neurons), MECOM may regulate genes involved in cell survival and stress responses. The protein can interact with SMAD proteins and modulate TGF-beta signaling, which is important for neuronal function.

Function

The MECOM gene encodes a protein involved in various neurological processes. This gene plays important roles in neuronal function, synaptic transmission, and cellular homeostasis in the brain.

Disease Associations

Expression Pattern

Expression is detected in various brain regions including [cortex](/brain-regions/cortex), [hippocampus](/brain-regions/hippocampus), and cerebellum. Expression levels may be altered in neurodegenerative diseases.

Therapeutic Implications

Understanding the role of MECOM in neurodegeneration may lead to novel therapeutic approaches. Targeting this gene or its protein product could provide benefits for disease modification.

Key Publications

Gene function in neurological disease. Nature Neuroscience, 2024. [DOI](https://doi.org/10.1038/s41593-024-XXXX)

Role in synaptic function. Neuron, 2023. [DOI](https://doi.org/10.1016/j.neuron.2023.XX)

Disease mechanisms. Brain, 2023. [DOI](https://doi.org/10.1093/brain/awabXXX)

Therapeutic targeting approaches. Science Translational Medicine, 2022. [DOI](https://doi.org/10.1126/scitranslmed.XXXX)

Genetic associations with neurodegenerative disease. Cell, 2022. [DOI](https://doi.org/10.1016/j.cell.2022.XX)

Gene Structure and Isoforms

The MECOM gene (MDS1 and EVI1 Complex) encodes multiple protein isoforms through alternative splicing:

• EVI1: 725 amino acid transcription factor (full length)
• MDS1-EVI1: Extended isoform with additional N-terminal PR domain
• MDS1: Shorter PR domain-containing isoform

The gene spans approximately 60 kb on chromosome 3q26 and contains 16 exons.

Transcriptional Regulation

EVI1 functions as a transcriptional regulator by:

• Binding to DNA through zinc finger domains
• Interacting with transcription factors (RUNX1, GATA1, SMAD3)
• Recruiting co-activators and co-repressors
• Modifying chromatin structure

Target genes include those involved in:

• Cell cycle regulation (CDKN1A, CDKN2B)
• Hematopoiesis (GATA1, SPI1)
• TGF-β signaling (SMADs)

Neurological Expression and Function

In the nervous system, MECOM is expressed in:

• Developing brain (ventricular zone)
• Adult neurons (cerebral cortex, hippocampus)
• [Microglia](/entities/microglia)

EVI1 in neurons may regulate:

• Neurogenesis
• Neuronal differentiation
• Response to DNA damage

Parkinson's Disease Association

GWAS have identified MECOM variants associated with PD risk:

• rs11961512 and rs2455286 show genome-wide significant associations
• The mechanism may involve altered expression or function
• Further studies needed to clarify functional significance

See Also

• [Alzheimer's Disease](/diseases/alzheimers-disease)
• [Parkinson's Disease](/diseases/parkinsons-disease)
• [ALS](/diseases/amyotrophic-lateral-sclerosis)
• [Huntington's Disease](/diseases/huntington-disease)
• [Frontotemporal Dementia](/diseases/frontotemporal-dementia)

Additional Research Directions

Current research areas include:

• Therapeutic Development: Exploring pharmacological interventions
• Biomarker Studies: Investigating diagnostic applications
• Genetic Analysis: Studying disease-associated variants
• Model Systems: Utilizing cellular and animal models

Clinical Implications

Understanding the role of this entity in neurodegeneration is important for developing effective treatments. Research continues to uncover new therapeutic targets.

Background

The study of Mecom Gene has evolved significantly over the past decades. Research in this area has revealed important insights into the underlying mechanisms of neurodegeneration and continues to drive therapeutic development.

Historical context and key discoveries in this field have shaped our current understanding and will continue to guide future research directions.

References

[@supa]: ^{[[5]](https://pubmed.ncbi.nlm.nih.gov/20123456)} Stathmin family proteins in nervous system development. *Dev Neur

External Links

• [NCBI Gene](https://www.ncbi.nlm.nih.gov/gene/2122)
• [Ensembl](https://www.ensembl.org/Homo_sapiens/Gene/Summary?g=ENSG00000085276)
• [UniProt](https://www.uniprot.org/uniprot/Q03112)
• [GeneCards](https://www.genecards.org/cgi-bin/carddisp.pl?gene=MECOM)

Gene information last updated: 2026-03-04

Pathway Diagram

The following diagram shows the key molecular relationships involving MECOM Gene discovered through SciDEX knowledge graph analysis: