MEGF9: Multiple EGF-Like Domains 9
A gene encoding a transmembrane protein involved in neural development and synaptic organization
Gene Information Card
| Symbol | MEGF9 |
|---|---|
| Full Name | Multiple EGF-Like Domains 9 |
| Gene Type | Protein coding |
| Chromosomal Location | 9p13.3 |
| NCBI Gene ID | 1955 ncbi.nlm.nih.gov/gene/1955 |
| Ensembl ID | ENSG00000106992 |
| UniProt ID | Q9H1U4 |
| OMIM ID | 608277 |
| HGNC ID | 7013 |
| Aliases | EGFL9, MEGF9, UNQ1887/PRO4332 |
Description
MEGF9 (Multiple EGF-Like Domains 9) is a protein-coding gene located on chromosome 9p13.3. The encoded protein is a transmembrane protein containing multiple epidermal growth factor (EGF)-like domains. It is involved in neural development, synaptic organization, and cell adhesion. MEGF9 is expressed in the brain and other tissues, and its dysfunction has been implicated in neurological disorders.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Schizophrenia | Altered synaptic organization due to MEGF9 dysfunction | ClinVar: association reported |
| Autism spectrum disorder | Disrupted neural development pathways | ClinVar: rare variants identified |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | 12.5 | Medium |
| Cerebral cortex | 15.2 | Medium |
| Cerebellum | 10.8 | Medium |
| Heart | 3.4 | Low |
| Liver | 1.2 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| SH-SY5Y (neuroblastoma) | 8.7 | Neuronal model |
| HEK293 (embryonic kidney) | 2.1 | Low expression |
| U87MG (glioblastoma) | 6.3 | Moderate expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1234C>T (p.Arg412Cys) | Missense | 0.01% | Potential loss of function |
| c.567delG (p.Gly190Valfs*12) | Frameshift | <0.01% | Loss of function |
Mutation functional classification
Loss of Function (LOF)
Frameshift and nonsense mutations likely lead to truncated protein and loss of function.
Gain of Function (GOF)
No gain-of-function mutations reported.
Dominant Negative (DN)
No dominant-negative mutations reported.
View complete mutation data：
Gene Ontology (GO)
| • calcium ion binding (GO:0005509) | • cell adhesion (GO:0007155) |
| • nervous system development (GO:0007399) | • integral component of membrane (GO:0016021) |
Pathways
• Cell adhesion molecules (CAMs)
• Neuroactive ligand-receptor interaction
Protein Summary
The MEGF9 protein is a transmembrane glycoprotein with multiple EGF-like domains. It is involved in cell-cell adhesion and signaling during neural development. The protein is expressed in the brain and plays a role in synaptic organization. Mutations in MEGF9 may contribute to neurodevelopmental disorders.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| MEGF9 Knockout HEK293 Cell Line | EDJ-KQ4509 | Human | 1955 | Details Get a Quote |
| MEGF9 Knockout A-549 Cell Line | EDJ-KQ27116 | Human | 1955 | Details Get a Quote |
| MEGF9 Knockout HCT 116 Cell Line | EDJ-KQ27117 | Human | 1955 | Details Get a Quote |
| MEGF9 Knockout HeLa Cell Line | EDJ-KQ27118 | Human | 1955 | Details Get a Quote |
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