MDFIC (MyoD Family Inhibitor Domain Containing)
Transcriptional regulator involved in myogenesis and cell differentiation
Gene Information Card
| Symbol | MDFIC |
|---|---|
| Full Name | MyoD Family Inhibitor Domain Containing |
| Gene Type | protein-coding |
| Chromosomal Location | 7q31.1 |
| NCBI Gene ID | 388697 ncbi.nlm.nih.gov/gene/388697 |
| Ensembl ID | ENSG00000164619 |
| UniProt ID | Q9Y2C9 |
| OMIM ID | 614666 |
| HGNC ID | 28870 |
| Aliases | HIC, I-mfa, MyoD family inhibitor domain-containing protein |
Description
MDFIC (MyoD Family Inhibitor Domain Containing) encodes a protein that inhibits the transcriptional activity of MyoD family members, thereby regulating myogenesis and cell differentiation. The protein contains a cysteine-rich domain and is involved in modulating Wnt signaling and cellular proliferation. MDFIC is expressed in various tissues and has been implicated in cancer and developmental processes.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Cancer (various types) | MDFIC overexpression or mutation may alter differentiation pathways, promoting tumorigenesis | COSMIC, ClinVar |
| Developmental disorders | Disruption of MDFIC function may impair myogenesis and organ development | OMIM |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Skeletal muscle | 12.5 | Medium |
| Heart | 8.3 | Medium |
| Brain | 5.1 | Low |
| Lung | 4.7 | Low |
| Liver | 3.2 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HeLa | 6.8 | Cervical cancer cell line |
| A549 | 5.4 | Lung cancer cell line |
| HEK293 | 7.1 | Embryonic kidney cell line |
| MCF7 | 4.9 | Breast cancer cell line |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.325C>T (p.Arg109*) | Nonsense | <0.1% | Loss of function |
| c.487G>A (p.Gly163Arg) | Missense | <0.1% | Unknown effect |
Mutation functional classification
Loss of Function (LOF)
Nonsense mutations leading to premature stop codons are predicted to cause loss of function.
Gain of Function (GOF)
No confirmed gain-of-function mutations reported.
Dominant Negative (DN)
No evidence for dominant-negative effects.
View complete mutation data：
Gene Ontology (GO)
| • nucleus (GO:0005634) | • transcription corepressor activity (GO:0003714) |
| • negative regulation of myoblast differentiation (GO:0045663) | • negative regulation of gene expression (GO:0010629) |
Pathways
• Myogenesis pathway
• Wnt signaling pathway
Protein Summary
The MDFIC protein (UniProt Q9Y2C9) is a 246-amino acid nuclear protein that contains a cysteine-rich domain. It functions as a transcriptional repressor by binding to MyoD family transcription factors, inhibiting their ability to activate muscle-specific genes. MDFIC also interacts with beta-catenin to modulate Wnt signaling. The protein is expressed in multiple tissues and is implicated in cell differentiation and cancer.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| 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 |
| 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 |
