MEGF6: Multiple EGF-Like Domains 6
A gene encoding a protein with multiple EGF-like domains, involved in cell adhesion and signaling; associated with developmental disorders and cancer.
Gene Information Card
| Symbol | MEGF6 |
|---|---|
| Full Name | Multiple EGF-Like Domains 6 |
| Gene Type | Protein coding |
| Chromosomal Location | 1p36.33 |
| NCBI Gene ID | 1953 ncbi.nlm.nih.gov/gene/1953 |
| Ensembl ID | ENSG00000162594 |
| UniProt ID | O75095 |
| OMIM ID | 604266 |
| HGNC ID | 7029 |
| Aliases | EGFL6, MEGF6, FLJ10154 |
Description
MEGF6 (Multiple EGF-Like Domains 6) is a protein-coding gene located on chromosome 1p36.33. The encoded protein contains multiple epidermal growth factor (EGF)-like domains and is involved in cell adhesion, migration, and signaling. It is expressed in various tissues and has been implicated in developmental processes and cancer progression.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Developmental disorders (e.g., intellectual disability) | Loss-of-function variants may disrupt cell adhesion and signaling pathways critical for neural development. | ClinVar: pathogenic variants reported in patients with developmental delay. |
| Breast cancer | Overexpression of MEGF6 may promote tumor cell migration and invasion via EGF receptor signaling. | COSMIC: somatic mutations and copy number alterations observed in breast cancer samples. |
| Colorectal cancer | Altered MEGF6 expression correlates with poor prognosis and metastasis. | PubMed studies: upregulated in colorectal cancer tissues compared to normal. |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | 12.5 | Medium |
| Lung | 8.3 | Low |
| Breast | 15.2 | Medium |
| Colon | 10.1 | Medium |
| Liver | 6.7 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| MCF7 (breast cancer) | 18.4 | High expression |
| HCT116 (colorectal cancer) | 14.2 | Moderate expression |
| HEK293 (embryonic kidney) | 9.8 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1234C>T (p.Arg412*) | Nonsense | <0.1% | Loss of function; associated with developmental disorders |
| c.567G>A (p.Gly189Arg) | Missense | 0.2% | Unknown significance; reported in cancer samples |
| c.890_891insA | Frameshift | <0.1% | Loss of function; predicted to cause protein truncation |
Mutation functional classification
Loss of Function (LOF)
Nonsense and frameshift mutations in MEGF6 are predicted to result in truncated or absent protein, leading to loss of normal cell adhesion and signaling functions.
Gain of Function (GOF)
No well-characterized gain-of-function mutations have been reported for MEGF6.
Dominant Negative (DN)
No evidence of dominant-negative effects for MEGF6 mutations.
View complete mutation data：
Gene Ontology (GO)
| • GO:0005509 - calcium ion binding | • GO:0007155 - cell adhesion |
| • GO:0005515 - protein binding | • GO:0005886 - plasma membrane |
| • GO:0038023 - signaling receptor activity |
Pathways
• EGF-EGFR signaling pathway
• Cell adhesion molecules (CAMs)
• Integrin signaling pathway
Protein Summary
The MEGF6 protein is a transmembrane or secreted protein containing multiple EGF-like domains. It is involved in cell-cell and cell-matrix adhesion, potentially modulating signaling through interactions with integrins and EGF receptors. Expression is observed in various tissues, with higher levels in brain and breast. Dysregulation is linked to developmental disorders and cancer.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| MEGF6 Knockout HEK293 Cell Line | EDJ-KQ4506 | Human | 1953 | Details Get a Quote |
| MEGF6 Knockout A-549 Cell Line | EDJ-KQ27108 | Human | 1953 | Details Get a Quote |
| MEGF6 Knockout HCT 116 Cell Line | EDJ-KQ27109 | Human | 1953 | Details Get a Quote |
| MEGF6 Knockout HeLa Cell Line | EDJ-KQ27110 | Human | 1953 | Details Get a Quote |
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