IMP4
IMP U3 Small Nucleolar Ribonucleoprotein 4
Gene Information Card
| Symbol | IMP4 |
|---|---|
| Full Name | IMP U3 Small Nucleolar Ribonucleoprotein 4 |
| Gene Type | Protein coding |
| Chromosomal Location | 2q21.1 |
| NCBI Gene ID | 92856 ncbi.nlm.nih.gov/gene/92856 |
| Ensembl ID | ENSG00000115977 |
| UniProt ID | Q96G21 |
| OMIM ID | 612981 |
| HGNC ID | 29087 |
| Aliases | Brix domain containing 4, CXorf2, MGC10854 |
Description
IMP4 encodes a component of the U3 small nucleolar ribonucleoprotein (U3 snoRNP) complex, which is essential for the early cleavage steps of pre-rRNA processing during ribosome biogenesis. The protein localizes to the nucleolus and interacts with other U3 snoRNP subunits to facilitate 18S rRNA maturation. IMP4 contains a Brix domain characteristic of proteins involved in ribosome assembly.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Cancer (various types) | Altered IMP4 expression may disrupt ribosome biogenesis, affecting cell growth and proliferation. | COSMIC; literature reports |
| Intellectual disability (candidate) | Rare variants in IMP4 have been identified in patients with neurodevelopmental phenotypes, though mechanism is not fully established. | ClinVar; literature reports |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 12.5 | Medium |
| Lymph node | 9.8 | Medium |
| Brain (cerebellum) | 8.2 | Medium |
| Liver | 6.1 | Low |
| Heart | 5.3 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK 293 | 15.2 | High expression |
| HeLa | 12.8 | High expression |
| K562 | 10.1 | Medium expression |
| MCF7 | 8.5 | Medium expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1A>G (p.Met1?) | Missense | <0.01% | Likely loss of start codon, predicted loss of function |
| c.287G>A (p.Arg96His) | Missense | <0.01% | Uncertain significance; reported in ClinVar |
Mutation functional classification
Loss of Function (LOF)
Loss-of-function mutations in IMP4 are predicted to impair U3 snoRNP assembly and pre-rRNA processing, potentially leading to nucleolar stress and altered cell proliferation.
Gain of Function (GOF)
No gain-of-function mutations have been reported for IMP4.
Dominant Negative (DN)
No dominant-negative mutations have been characterized for IMP4.
View complete mutation data：
Gene Ontology (GO)
| • nucleolus (GO:0005730) | • small nucleolar ribonucleoprotein complex (GO:0005732) |
| • rRNA processing (GO:0006364) | • maturation of SSU-rRNA (GO:0030490) |
| • ribosome biogenesis (GO:0042254) |
Pathways
• R-HSA-6791226: Major pathway of rRNA processing in the nucleolus and cytosol
• R-HSA-72312: rRNA processing
Protein Summary
IMP4 is a 229-amino-acid nucleolar protein (UniProt Q96G21) that contains a Brix domain. It is a core component of the U3 snoRNP complex, which is required for the endonucleolytic cleavage of pre-rRNA at sites A0, A1, and A2 during 18S rRNA maturation. The protein interacts with other U3 snoRNP factors such as IMP3, UTP14A, and WDR43. IMP4 is evolutionarily conserved and essential for ribosome biogenesis.
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