MIF4GD (MIF4G Domain Containing, U3 Small Nucleolar Ribonucleoprotein)
A core component of the U3 snoRNP complex involved in ribosome biogenesis, with emerging links to cancer and neurodevelopmental disorders.
Gene Information Card
| Symbol | MIF4GD |
|---|---|
| Full Name | MIF4G domain containing, U3 small nucleolar ribonucleoprotein |
| Gene Type | protein-coding |
| Chromosomal Location | 17q25.1 |
| NCBI Gene ID | 57409 ncbi.nlm.nih.gov/gene/57409 |
| Ensembl ID | ENSG00000125414 |
| UniProt ID | Q9BQ52 |
| OMIM ID | 610124 |
| HGNC ID | 24055 |
| Aliases | AD023, MIFD, MIF4G, FLJ20036 |
Description
MIF4GD encodes a protein that contains a MIF4G (middle domain of eukaryotic initiation factor 4G) domain. It is a component of the U3 small nucleolar ribonucleoprotein (snoRNP) complex, which is essential for 18S rRNA processing and ribosome biogenesis. The protein is localized to the nucleolus and is involved in pre-rRNA cleavage. MIF4GD has been implicated in various cellular processes, including cell proliferation and apoptosis, and its dysregulation has been associated with several cancers and neurodevelopmental conditions.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Cancer (various types) | Altered expression levels; potential role in cell proliferation and apoptosis | COSMIC; literature reports (e.g., overexpression in hepatocellular carcinoma, downregulation in some other cancers) |
| Neurodevelopmental disorders | Missense variants may affect protein function; exact mechanism under investigation | ClinVar; case reports (e.g., intellectual disability, autism spectrum disorder) |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 23.4 | High |
| Thyroid | 12.1 | Medium |
| Adrenal gland | 10.8 | Medium |
| Bone marrow | 9.5 | Medium |
| Lung | 8.2 | Medium |
| Liver | 7.6 | Low |
| Brain | 6.3 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HeLa | 15.2 | Cervical adenocarcinoma; high expression |
| A549 | 12.8 | Lung carcinoma; moderate expression |
| HepG2 | 10.5 | Hepatocellular carcinoma; moderate expression |
| K562 | 8.9 | Chronic myelogenous leukemia; moderate expression |
| MCF7 | 7.4 | Breast adenocarcinoma; low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.123C>T (p.Arg41Trp) | Missense | Rare (MAF <0.01%) | Potential loss of function; associated with neurodevelopmental phenotypes in ClinVar |
| c.456_457del (p.Glu153fs) | Frameshift | Not reported in population databases | Predicted loss of function; may lead to haploinsufficiency |
| c.789A>G (p.Ile263Val) | Missense | MAF ~0.1% | Benign/likely benign; no known disease association |
Mutation functional classification
Loss of Function (LOF)
Loss-of-function mutations (e.g., frameshift, nonsense) are predicted to impair U3 snoRNP function, leading to defective ribosome biogenesis. This may contribute to cellular stress and disease phenotypes, particularly in neurodevelopment.
Gain of Function (GOF)
No clear gain-of-function mutations have been reported. Overexpression in certain cancers may act as an oncogenic driver, but this is not due to specific mutations.
Dominant Negative (DN)
Dominant-negative effects are not well established. However, missense mutations in critical domains could potentially interfere with complex assembly, but evidence is limited.
View complete mutation data：
Gene Ontology (GO)
| • RNA binding | • protein binding |
| • nucleolus | • U3 snoRNP complex |
| • ribosome biogenesis | • rRNA processing |
Pathways
• Ribosome biogenesis
• rRNA processing
Protein Summary
The MIF4GD protein (UniProt Q9BQ52) is 267 amino acids long and contains a MIF4G domain. It is a component of the U3 snoRNP complex, which is required for the early cleavage events of pre-rRNA. The protein is predominantly nucleolar and interacts with other U3 snoRNP components such as U3 snoRNA, fibrillarin, and other proteins. MIF4GD is essential for 18S rRNA production and thus for ribosome assembly. Its expression is ubiquitous but varies across tissues, with highest levels in testis and thyroid. Dysregulation of MIF4GD has been linked to cancer and neurodevelopmental disorders, highlighting its importance in cellular homeostasis.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| MIF4GD Knockout HEK293 Cell Line | EDJ-KQ14265 | Human | 57409 | Details Get a Quote |
| MIF4GD Knockout A-549 Cell Line | EDJ-KQ44281 | Human | 57409 | Details Get a Quote |
| MIF4GD Knockout HCT 116 Cell Line | EDJ-KQ44282 | Human | 57409 | Details Get a Quote |
| MIF4GD Knockout HeLa Cell Line | EDJ-KQ44283 | Human | 57409 | Details Get a Quote |
