MDFIC2
MyoD Family Inhibitor Domain Containing 2
Gene Information Card
| Symbol | MDFIC2 |
|---|---|
| Full Name | MyoD Family Inhibitor Domain Containing 2 |
| Gene Type | Protein coding |
| Chromosomal Location | 7q22.1 |
| NCBI Gene ID | 100130819 ncbi.nlm.nih.gov/gene/100130819 |
| Ensembl ID | ENSG00000204176 |
| UniProt ID | A6NKD2 |
| OMIM ID | 620053 |
| HGNC ID | 40093 |
| Aliases | MDFIC2, FLJ46361 |
Description
MDFIC2 (MyoD Family Inhibitor Domain Containing 2) is a protein-coding gene located on chromosome 7q22.1. It encodes a protein that contains a MyoD family inhibitor domain, which may play a role in regulating transcription factors involved in myogenesis and cell differentiation. The gene is expressed in various tissues and has been implicated in certain cancers and developmental processes.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Cancer (general) | Altered expression may affect cell differentiation pathways | COSMIC database reports somatic mutations in various cancer types |
| Developmental disorders | Potential role in myogenesis regulation | Inferred from domain homology |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 12.3 | Medium |
| Brain | 8.5 | Low |
| Lung | 6.2 | Low |
| Liver | 4.1 | Low |
| Kidney | 5.8 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK 293 | 9.7 | Moderate expression |
| HeLa | 7.4 | Low expression |
| K562 | 6.1 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.347C>T | Missense | <0.1% in COSMIC | Unknown functional impact |
| c.512A>G | Missense | <0.1% in COSMIC | Unknown functional impact |
Mutation functional classification
Loss of Function (LOF)
No confirmed loss-of-function mutations reported in ClinVar or COSMIC.
Gain of Function (GOF)
No confirmed gain-of-function mutations reported.
Dominant Negative (DN)
No evidence for dominant-negative effects.
View complete mutation data：
Protein Summary
The MDFIC2 protein contains a MyoD family inhibitor domain, suggesting it may inhibit MyoD family transcription factors, thereby regulating muscle cell differentiation and other developmental processes. Its exact molecular function and cellular roles remain under investigation.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| MDFIC2 Knockout HEK293 Cell Line | EDJ-KQ14224 | Human | 107986096 | Details Get a Quote |
