IMPACT Gene
Impact RWD Domain Protein
Gene Information Card
| Symbol | IMPACT |
|---|---|
| Full Name | Impact RWD Domain Protein |
| Gene Type | Protein coding |
| Chromosomal Location | 18q11.2 |
| NCBI Gene ID | 55364 ncbi.nlm.nih.gov/gene/55364 |
| Ensembl ID | ENSG00000101412 |
| UniProt ID | Q9P2X3 |
| OMIM ID | 612415 |
| HGNC ID | 28987 |
| Aliases | FLJ11273, RWD domain-containing protein 1 |
Description
The IMPACT gene encodes a protein containing an RWD domain, which is involved in the regulation of translation under amino acid starvation conditions. It interacts with GCN2 (EIF2AK4) to inhibit its activation, thereby modulating the integrated stress response. IMPACT is highly expressed in the brain and testis and is conserved across eukaryotes.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| No specific disease association reported in ClinVar or OMIM | N/A | No curated evidence |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | 15.2 | Medium |
| Testis | 12.8 | Medium |
| Heart | 6.5 | Low |
| Liver | 3.1 | Low |
| Kidney | 4.7 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK293 | 10.5 | Moderate expression |
| HeLa | 8.3 | Moderate expression |
| SH-SY5Y | 14.1 | High 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 |
| c.214C>T (p.Arg72Trp) | Missense | <0.01% | Unknown significance |
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：
Gene Ontology (GO)
| • translation elongation factor activity (GO:0003746) | • regulation of translation (GO:0006417) |
| • cytosol (GO:0005829) | • nucleus (GO:0005634) |
Pathways
• Amino acid starvation response (GCN2 pathway)
• Integrated stress response
Protein Summary
The IMPACT protein (UniProt Q9P2X3) is a 322-amino acid protein containing an RWD domain. It acts as a negative regulator of GCN2 kinase, suppressing eIF2α phosphorylation under amino acid sufficiency. It is predominantly expressed in neural and reproductive tissues, suggesting a role in translational control in these cell types.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| IMPACT Knockout HEK293 Cell Line | EDJ-KQ13832 | Human | 55364 | Details Get a Quote |
| IMPACT Knockout A-549 Cell Line | EDJ-KQ43660 | Human | 55364 | Details Get a Quote |
| IMPACT Knockout HCT 116 Cell Line | EDJ-KQ43661 | Human | 55364 | Details Get a Quote |
| IMPACT Knockout HeLa Cell Line | EDJ-KQ43662 | Human | 55364 | Details Get a Quote |
