MEAK7
MTOR Associated Protein, EAK7 Homolog
Gene Information Card
| Symbol | MEAK7 |
|---|---|
| Full Name | MTOR Associated Protein, EAK7 Homolog |
| Gene Type | Protein coding |
| Chromosomal Location | 16q12.1 |
| NCBI Gene ID | 100131731 ncbi.nlm.nih.gov/gene/100131731 |
| Ensembl ID | ENSG00000205730 |
| UniProt ID | Q5VWQ8 |
| OMIM ID | 617789 |
| HGNC ID | 33799 |
| Aliases | C16orf70, FLJ25333, EAK7 homolog |
Description
MEAK7 (MTOR Associated Protein, EAK7 Homolog) is a protein-coding gene located on chromosome 16q12.1. It encodes a protein that interacts with MTOR (mechanistic target of rapamycin) and is involved in the regulation of cell growth and proliferation. The gene is conserved in eukaryotes, with a homolog in C. elegans named EAK7. MEAK7 is expressed in multiple tissues and has been implicated in cancer and developmental processes.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Cancer (general) | MEAK7 overexpression may promote MTOR signaling and cell proliferation | COSMIC; limited direct evidence |
| Developmental disorders | Potential role in MTOR pathway dysregulation | OMIM #617789; inferred from homolog studies |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 15.2 | Medium |
| Brain | 8.5 | Low |
| Lung | 6.1 | Low |
| Liver | 4.3 | Low |
| Kidney | 5.0 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK293 | 12.0 | Moderate expression |
| HeLa | 9.5 | Moderate expression |
| K562 | 7.8 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1A>G | Missense | <0.01% | Unknown; likely benign |
| c.100C>T | Nonsense | <0.01% | Predicted loss-of-function |
Mutation functional classification
Loss of Function (LOF)
Nonsense mutations predicted to cause premature truncation and loss of protein function.
Gain of Function (GOF)
No confirmed gain-of-function mutations reported.
Dominant Negative (DN)
No evidence for dominant-negative effects.
View complete mutation data：
Gene Ontology (GO)
| • protein binding | • MTOR complex binding |
| • regulation of cell growth | • cytoplasm |
Pathways
• MTOR signaling pathway
• PI3K-Akt signaling pathway
Protein Summary
The MEAK7 protein is a 244-amino acid polypeptide that localizes to the cytoplasm and interacts with components of the MTOR complex. It is thought to modulate MTOR activity, thereby influencing cell growth and metabolism. Structural studies suggest it contains a conserved domain of unknown function (DUF).
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| MEAK7 Knockout HEK293 Cell Line | EDJ-KQ14228 | Human | 57707 | Details Get a Quote |
| MEAK7 Knockout A-549 Cell Line | EDJ-KQ44198 | Human | 57707 | Details Get a Quote |
| MEAK7 Knockout HCT 116 Cell Line | EDJ-KQ44199 | Human | 57707 | Details Get a Quote |
| MEAK7 Knockout HeLa Cell Line | EDJ-KQ44200 | Human | 57707 | Details Get a Quote |
