MEST (Mesoderm Specific Transcript)
Imprinted gene involved in development, metabolism, and cancer
Gene Information Card
| Symbol | MEST |
|---|---|
| Full Name | Mesoderm Specific Transcript |
| Gene Type | Protein coding (imprinted) |
| Chromosomal Location | 7q32.2 |
| NCBI Gene ID | 4232 ncbi.nlm.nih.gov/gene/4232 |
| Ensembl ID | ENSG00000106484 |
| UniProt ID | Q5EB52 |
| OMIM ID | 601029 |
| HGNC ID | 7028 |
| Aliases | PEG1, MEST1, PEG1/MEST |
Description
MEST (mesoderm specific transcript) is an imprinted gene that is paternally expressed in most tissues. It encodes a member of the alpha/beta hydrolase fold family. The protein is involved in adipogenesis, glucose metabolism, and mesodermal development. Loss of imprinting and altered expression have been associated with Silver-Russell syndrome and various cancers.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Silver-Russell syndrome (SRS) | Maternal uniparental disomy of chromosome 7 or loss of paternal MEST expression leads to growth restriction | OMIM #180860; multiple case reports |
| Colorectal cancer | MEST hypermethylation and loss of imprinting contribute to tumorigenesis | ClinVar; COSMIC; PMID: 15696293 |
| Breast cancer | MEST overexpression and aberrant imprinting observed in tumor tissues | COSMIC; PMID: 19074899 |
| Obesity / metabolic syndrome | MEST expression in adipose tissue correlates with adipocyte hypertrophy and insulin resistance | UniProt; PMID: 22960657 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Adipose tissue | 12.5 | Medium |
| Placenta | 8.2 | Low |
| Brain (cerebellum) | 6.1 | Low |
| Liver | 4.3 | Low |
| Skeletal muscle | 3.8 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HeLa | 15.2 | Cervical cancer cell line |
| HepG2 | 10.1 | Hepatocellular carcinoma |
| MCF7 | 7.8 | Breast cancer |
| A549 | 5.4 | Lung carcinoma |
| K562 | 2.1 | Leukemia |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1A>G (p.Met1?) | Missense | <0.01% | Likely loss of start codon; uncertain significance |
| c.256C>T (p.Arg86Trp) | Missense | <0.01% | Unknown effect; rare population variant |
| c.487G>A (p.Gly163Ser) | Missense | <0.01% | Unknown effect; rare population variant |
| Whole gene deletion | Structural | Very rare | Loss of paternal copy; associated with SRS |
Mutation functional classification
Loss of Function (LOF)
Loss of paternal MEST expression (via deletion or imprinting defect) is associated with Silver-Russell syndrome.
Gain of Function (GOF)
Overexpression of MEST in adipose tissue and certain cancers suggests a potential gain-of-function role in metabolic dysregulation and tumor progression.
Dominant Negative (DN)
No dominant negative mechanisms have been reported for MEST.
View complete mutation data：
Gene Ontology (GO)
| • protein binding (GO:0005515) | • cytoplasm (GO:0005737) |
| • hydrolase activity (GO:0016787) | • response to insulin (GO:0032868) |
| • fat cell differentiation (GO:0045444) | • metal ion binding (GO:0046872) |
Pathways
• Adipogenesis
• Insulin signaling
• Metabolic pathways
Protein Summary
The MEST protein (UniProt Q5EB52) is a 335-amino acid member of the alpha/beta hydrolase fold family. It is localized in the cytoplasm and is involved in adipocyte differentiation, glucose homeostasis, and mesodermal development. The protein is paternally expressed due to genomic imprinting. Structural studies suggest it may possess hydrolase activity, though the specific substrate remains unknown. Altered MEST expression is linked to Silver-Russell syndrome, obesity, and several cancers.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| MEST Knockout HEK293 Cell Line | EDJ-KQ5203 | Human | 4232 | Details Get a Quote |
| MEST Knockout A-549 Cell Line | EDJ-KQ26966 | Human | 4232 | Details Get a Quote |
| MEST Knockout HCT 116 Cell Line | EDJ-KQ28199 | Human | 4232 | Details Get a Quote |
| MEST Knockout HeLa Cell Line | EDJ-KQ28200 | Human | 4232 | Details Get a Quote |
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