MTF2: Metal Response Element Binding Transcription Factor 2
A Polycomb Group Protein Involved in Transcriptional Repression and Development
Gene Information Card
| Symbol | MTF2 |
|---|---|
| Full Name | Metal Response Element Binding Transcription Factor 2 |
| Gene Type | Protein coding |
| Chromosomal Location | 1p22.1 |
| NCBI Gene ID | 22823 ncbi.nlm.nih.gov/gene/22823 |
| Ensembl ID | ENSG00000143157 |
| UniProt ID | Q9Y483 |
| OMIM ID | 607543 |
| HGNC ID | 7441 |
| Aliases | PCL2, M96, TDRD19A |
Description
MTF2 (Metal Response Element Binding Transcription Factor 2) encodes a polycomb group (PcG) protein that is a component of the Polycomb Repressive Complex 2 (PRC2). It binds to metal response elements (MREs) and is involved in transcriptional repression of target genes, playing a critical role in development, cell differentiation, and chromatin remodeling. MTF2 is also known as PCL2 (Polycomb-like 2).
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Cancer (various types) | Dysregulation of PRC2-mediated gene silencing; MTF2 mutations or altered expression may contribute to oncogenesis | COSMIC, ClinVar |
| Developmental disorders | Potential role in PRC2 dysfunction affecting embryonic development | OMIM, literature |
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 |
|---|---|---|
| HEK 293 | 12.0 | Embryonic kidney cells |
| HeLa | 9.8 | Cervical cancer cells |
| K562 | 7.5 | Leukemia cells |
| MCF7 | 6.2 | Breast cancer cells |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1072C>T (p.Arg358Trp) | Missense | Rare | Unknown functional effect |
| c.1450G>A (p.Gly484Ser) | Missense | Rare | Unknown functional effect |
| c.1687_1688insA (p.Thr563Asnfs*2) | Frameshift | Rare | Loss of function |
Mutation functional classification
Loss of Function (LOF)
Frameshift mutations (e.g., c.1687_1688insA) likely result in truncated protein and loss of PRC2 recruitment function.
Gain of Function (GOF)
No evidence of gain-of-function mutations in MTF2.
Dominant Negative (DN)
No evidence of dominant-negative mutations in MTF2.
View complete mutation data：
Gene Ontology (GO)
Pathways
• Polycomb repressive complex 2 (PRC2) pathway
• Chromatin modifying enzymes
• Transcriptional misregulation in cancer
Protein Summary
MTF2 encodes a 593-amino acid protein (UniProt Q9Y483) that contains a Tudor domain and a PHD finger, which mediate interactions with methylated histones and chromatin. As a polycomb-like protein, MTF2 is essential for PRC2 recruitment to specific genomic loci, facilitating H3K27me3 deposition and gene silencing. It is involved in stem cell differentiation and is implicated in cancer when dysregulated.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| MTF2 Knockout HEK293 Cell Line | EDJ-KQ2093 | Human | 22823 | Details Get a Quote |
| MTF2 Knockout A-549 Cell Line | EDJ-KQ22194 | Human | 22823 | Details Get a Quote |
| MTF2 Knockout HCT 116 Cell Line | EDJ-KQ22195 | Human | 22823 | Details Get a Quote |
| MTF2 Knockout HeLa Cell Line | EDJ-KQ20902 | Human | 22823 | Details Get a Quote |
