MIER2 Gene - MIER2 Transcriptional Repressor
Comprehensive genomic and functional overview of MIER2, a member of the MIER family involved in transcriptional regulation and chromatin remodeling.
Gene Information Card
| Symbol | MIER2 |
|---|---|
| Full Name | MIER2 transcriptional repressor |
| Gene Type | protein-coding |
| Chromosomal Location | 19p13.3 |
| NCBI Gene ID | 54520 ncbi.nlm.nih.gov/gene/54520 |
| Ensembl ID | ENSG00000105556 |
| UniProt ID | Q8N1N0 |
| OMIM ID | 616873 |
| HGNC ID | 29621 |
| Aliases | KIAA1149, MIDEAS, MIDEAS2 |
Description
MIER2 (MIER2 transcriptional repressor) encodes a protein that belongs to the MIER (mesoderm induction early response) family. It functions as a transcriptional repressor by recruiting histone deacetylase complexes to chromatin, thereby modulating gene expression. MIER2 is involved in cell differentiation, proliferation, and development. It is broadly expressed in various tissues and has been implicated in cancer and other diseases.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Breast cancer | MIER2 may act as a tumor suppressor; altered expression correlates with poor prognosis. | PMID: 25691885 |
| Colorectal cancer | MIER2 downregulation associated with tumor progression and metastasis. | PMID: 29187737 |
| Gastric cancer | MIER2 expression loss linked to increased cell proliferation and invasion. | PMID: 30589842 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | 12.5 | Medium |
| Heart | 8.3 | Low |
| Liver | 6.7 | Low |
| Lung | 9.1 | Low |
| Kidney | 10.2 | Medium |
| Testis | 15.8 | Medium |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK293 | 14.2 | Embryonic kidney cells |
| HeLa | 11.5 | Cervical cancer cells |
| MCF7 | 9.8 | Breast cancer cells |
| HepG2 | 7.3 | Liver cancer cells |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.101C>T (p.Thr34Met) | Missense | <0.1% | Unknown functional impact |
| c.245G>A (p.Arg82Gln) | Missense | <0.1% | Potential loss of repressor activity |
| c.568_569del (p.Gln190fs) | Frameshift | <0.1% | Loss of function |
Mutation functional classification
Loss of Function (LOF)
Frameshift and nonsense mutations likely lead to truncated protein and loss of transcriptional repression.
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)
Pathways
• Chromatin remodeling (Reactome: R-HSA-5250913)
• Transcriptional regulation by the AP-2 family (Reactome: R-HSA-8866907)
Protein Summary
The MIER2 protein is a 509-amino acid transcriptional repressor that localizes to the nucleus. It contains an ELM2 domain and a SANT domain, which mediate interactions with histone deacetylases (HDACs) and chromatin. MIER2 represses target genes by recruiting HDAC complexes, leading to histone deacetylation and chromatin compaction. It plays roles in development, cell cycle control, and differentiation.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| MIER2 Knockout HEK293 Cell Line | EDJ-KQ11453 | Human | 54531 | Details Get a Quote |
| MIER2 Knockout HeLa Cell Line | EDJ-KQ38408 | Human | 54531 | Details Get a Quote |
| MIER2 Knockout A-549 Cell Line | EDJ-KQ39743 | Human | 54531 | Details Get a Quote |
| MIER2 Knockout HCT 116 Cell Line | EDJ-KQ39744 | Human | 54531 | Details Get a Quote |
