MDFI (MyoD Family Inhibitor) Gene
A negative regulator of myogenic differentiation with roles in development and cancer
Gene Information Card
| Symbol | MDFI |
|---|---|
| Full Name | MyoD Family Inhibitor |
| Gene Type | protein-coding |
| Chromosomal Location | 6p21.1 |
| NCBI Gene ID | 4188 ncbi.nlm.nih.gov/gene/4188 |
| Ensembl ID | ENSG00000112559 |
| UniProt ID | Q99750 |
| OMIM ID | 601972 |
| HGNC ID | 6968 |
| Aliases | I-mf, MDF-1 |
Description
MDFI (MyoD Family Inhibitor) encodes a nuclear protein that inhibits the transcriptional activity of myogenic basic helix-loop-helix (bHLH) factors such as MyoD, Myf5, myogenin, and MRF4. By binding to these factors, MDFI prevents their heterodimerization with E proteins, thereby repressing muscle-specific gene expression and myogenic differentiation. The gene is expressed in various tissues and is implicated in development and cancer.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Colorectal Cancer | MDFI overexpression may inhibit differentiation and promote proliferation; altered expression observed in tumor tissues. | COSMIC; PMID: 20406972 |
| Breast Cancer | MDFI expression changes correlate with tumor grade and may influence epithelial-mesenchymal transition. | COSMIC; PMID: 21947067 |
| Rhabdomyosarcoma | Dysregulation of MDFI can impair myogenic differentiation, contributing to tumorigenesis. | COSMIC; PMID: 10652318 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Skeletal Muscle | 0.0 | Not detected |
| Heart | 0.0 | Not detected |
| Brain | 0.0 | Not detected |
| Liver | 0.0 | Not detected |
| Kidney | 0.0 | Not detected |
| Lung | 0.0 | Not detected |
| Colon | 0.0 | Not detected |
| Breast | 0.0 | Not detected |
| Testis | 0.0 | Not detected |
| Ovary | 0.0 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HeLa | 0.0 | Not detected |
| HEK293 | 0.0 | Not detected |
| MCF7 | 0.0 | Not detected |
| A549 | 0.0 | Not detected |
| K562 | 0.0 | Not detected |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1A>G (p.Met1?) | missense | <0.1% | Likely loss of start codon; effect unknown |
| c.100C>T (p.Arg34Trp) | missense | <0.1% | Substitution in conserved region; functional impact uncertain |
| c.200delA | frameshift | <0.1% | Predicted to cause premature truncation |
Mutation functional classification
Loss of Function (LOF)
Frameshift and nonsense mutations likely result in loss of inhibitory function, potentially derepressing myogenic factors.
Gain of Function (GOF)
Not well characterized; no clear gain-of-function mutations reported.
Dominant Negative (DN)
No evidence for dominant-negative effects in current literature.
View complete mutation data：
Gene Ontology (GO)
| • negative regulation of transcription by RNA polymerase II | • negative regulation of myoblast differentiation |
| • protein binding | • transcription corepressor activity |
| • nucleus |
Pathways
• Myogenesis (Reactome: R-HSA-525793)
• Transcriptional regulation of pluripotent stem cells (Reactome: R-HSA-913531)
Protein Summary
MDFI is a 246-amino acid nuclear protein that functions as a transcriptional repressor of myogenic bHLH factors. It contains an N-terminal domain that mediates interaction with MyoD family members, blocking their DNA-binding and transactivation capabilities. The protein is expressed in a variety of tissues, with highest levels in the testis and ovary. MDFI plays a role in maintaining the undifferentiated state of cells and is dysregulated in several cancers.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| MDFI Knockout HEK293 Cell Line | EDJ-KQ5191 | Human | 4188 | Details Get a Quote |
| MDFIC Knockout HEK293 Cell Line | EDJ-KQ9110 | Human | 29969 | Details Get a Quote |
| MDFIC2 Knockout HEK293 Cell Line | EDJ-KQ14224 | Human | 107986096 | Details Get a Quote |
| MDFI Knockout HCT 116 Cell Line | EDJ-KQ28177 | Human | 4188 | Details Get a Quote |
| MDFIC Knockout A-549 Cell Line | EDJ-KQ35620 | Human | 29969 | Details Get a Quote |
| MDFIC Knockout HCT 116 Cell Line | EDJ-KQ35621 | Human | 29969 | Details Get a Quote |
| MDFIC Knockout HeLa Cell Line | EDJ-KQ35622 | Human | 29969 | Details Get a Quote |
| MDFI Knockout HeLa Cell Line | EDJ-KQ53857 | Human | 4188 | Details Get a Quote |
| MDFI Knockout A-549 Cell Line | EDJ-KQ62343 | Human | 4188 | Details Get a Quote |
