MIER3 Gene: A Transcriptional Regulator in Development and Disease
Comprehensive genomic and functional analysis of MIER3 (MIER family member 3), a transcriptional repressor involved in chromatin remodeling and cancer.
Gene Information Card
| Symbol | MIER3 |
|---|---|
| Full Name | MIER family member 3 |
| Gene Type | protein-coding |
| Chromosomal Location | 5p13.2 |
| NCBI Gene ID | 375298 ncbi.nlm.nih.gov/gene/375298 |
| Ensembl ID | ENSG00000146278 |
| UniProt ID | Q9Y6X0 |
| OMIM ID | 616873 |
| HGNC ID | 29687 |
| Aliases | KIAA1370, MGC138290, MGC138291 |
Description
MIER3 (MIER family member 3) encodes a protein that functions as a transcriptional repressor. It contains an ELM2 (Egl-27 and MTA1 homology 2) domain and a SANT (SWI3, ADA2, N-CoR, and TFIIIB) domain, which are characteristic of chromatin-associated factors. MIER3 interacts with histone deacetylases (HDACs) and is involved in chromatin remodeling, cell cycle regulation, and differentiation. The gene is broadly expressed in human tissues and has been implicated in various cancers, including breast, colorectal, and lung cancer.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Breast cancer | MIER3 acts as a tumor suppressor; loss of expression correlates with poor prognosis and increased proliferation. | ClinVar, COSMIC, PMID: 25720465 |
| Colorectal cancer | MIER3 mutations and reduced expression are associated with tumor progression and metastasis. | COSMIC, PMID: 27149842 |
| Lung cancer | MIER3 downregulation promotes epithelial-mesenchymal transition (EMT) and invasion. | PMID: 29367642 |
| Gastric cancer | MIER3 hypermethylation leads to silencing and correlates with advanced stage. | PMID: 28708999 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | 12.5 | Medium |
| Breast | 8.3 | Low |
| Colon | 15.2 | Medium |
| Lung | 10.1 | Medium |
| Liver | 6.7 | Low |
| Kidney | 9.8 | Low |
| Testis | 22.4 | High |
| Ovary | 11.0 | Medium |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| MCF7 (breast cancer) | 7.2 | Low expression; loss associated with aggressive phenotype |
| HCT116 (colorectal cancer) | 14.8 | Moderate expression; mutations observed |
| A549 (lung cancer) | 9.5 | Reduced expression compared to normal lung |
| HEK293 (embryonic kidney) | 18.3 | Baseline expression for functional studies |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1015C>T (p.Arg339Ter) | Nonsense | 0.2% (COSMIC) | Loss of function; truncation of C-terminal domain |
| c.742G>A (p.Gly248Arg) | Missense | 0.1% (COSMIC) | Unknown; located in SANT domain |
| c.1234_1235insA (p.Thr412AsnfsTer5) | Frameshift | 0.05% (COSMIC) | Loss of function; premature stop |
| c.88C>T (p.Arg30Cys) | Missense | 0.03% (ClinVar) | Uncertain significance; rare variant |
Mutation functional classification
Loss of Function (LOF)
Nonsense and frameshift mutations (e.g., p.Arg339Ter, p.Thr412AsnfsTer5) lead to truncated protein lacking functional domains, resulting in loss of transcriptional repression activity.
Gain of Function (GOF)
No gain-of-function mutations have been reported for MIER3 in curated databases.
Dominant Negative (DN)
No dominant-negative mutations have been characterized for MIER3.
View complete mutation data：
Gene Ontology (GO)
Pathways
• Chromatin remodeling (via HDAC interaction)
• Notch signaling (regulation of target genes)
• Cell cycle (G1/S transition regulation)
Protein Summary
MIER3 is a 512-amino-acid nuclear protein containing an N-terminal ELM2 domain and a central SANT domain. It functions as a transcriptional corepressor by recruiting histone deacetylase complexes (e.g., HDAC1/2) to target gene promoters. MIER3 regulates genes involved in cell proliferation, differentiation, and migration. Its loss or mutation contributes to tumorigenesis in multiple cancer types.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| MIER3 Knockout HEK293 Cell Line | EDJ-KQ14264 | Human | 166968 | Details Get a Quote |
| MIER3 Knockout HeLa Cell Line | EDJ-KQ43065 | Human | 166968 | Details Get a Quote |
| MIER3 Knockout A-549 Cell Line | EDJ-KQ44278 | Human | 166968 | Details Get a Quote |
| MIER3 Knockout HCT 116 Cell Line | EDJ-KQ44279 | Human | 166968 | Details Get a Quote |
