IFRD2 (Interferon-Related Developmental Regulator 2)
A gene encoding a protein involved in transcriptional regulation, cell differentiation, and potential tumor suppression.
Gene Information Card
| Symbol | IFRD2 |
|---|---|
| Full Name | Interferon-Related Developmental Regulator 2 |
| Gene Type | Protein-coding |
| Chromosomal Location | 3p21.31 |
| NCBI Gene ID | 7866 ncbi.nlm.nih.gov/gene/7866 |
| Ensembl ID | ENSG00000144713 |
| UniProt ID | Q12894 |
| OMIM ID | 603502 |
| HGNC ID | 5424 |
| Aliases | SKMc15, TIS7, IFRD2 |
Description
IFRD2 (Interferon-Related Developmental Regulator 2) is a protein-coding gene located on chromosome 3p21.31. It encodes a member of the IFRD family, which is involved in transcriptional regulation, cell growth, and differentiation. The protein is known to interact with histone deacetylases and may play a role in tumor suppression. Expression is observed in various tissues, with highest levels in the brain and testis.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Cancer (various) | Potential tumor suppressor; altered expression or mutation may contribute to oncogenesis. | COSMIC; NCBI Gene |
| Neurodevelopmental disorders | Possible role in neuronal differentiation; limited direct evidence. | OMIM; UniProt |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | 12.5 | Medium |
| Testis | 10.8 | Medium |
| Lung | 6.2 | Low |
| Liver | 4.1 | Low |
| Kidney | 3.9 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK293 | 8.5 | Moderate expression |
| HeLa | 6.0 | Low expression |
| A549 | 5.2 | Low expression |
| K562 | 4.0 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.347C>T (p.Pro116Leu) | Missense | <0.1% | Unknown functional impact |
| c.502G>A (p.Gly168Arg) | Missense | <0.1% | Reported in COSMIC; uncertain significance |
Mutation functional classification
Loss of Function (LOF)
Not well characterized; some missense variants may reduce protein stability or interaction with HDACs.
Gain of Function (GOF)
No evidence for gain-of-function mutations.
Dominant Negative (DN)
No known dominant-negative mutations.
View complete mutation data：
Gene Ontology (GO)
| • transcription coactivator activity | • protein binding |
| • nucleus | • cytoplasm |
| • regulation of transcription by RNA polymerase II |
Pathways
• Not assigned to any specific KEGG or Reactome pathway
Protein Summary
The IFRD2 protein (UniProt Q12894) is a 462-amino acid nuclear and cytoplasmic protein that contains a conserved IFRD domain. It interacts with histone deacetylases (HDACs) and may function as a transcriptional co-regulator, influencing cell cycle and differentiation. Its precise molecular role remains under investigation.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| IFRD2 Knockout HEK293 Cell Line | EDJ-KQ6139 | Human | 7866 | Details Get a Quote |
| IFRD2 Knockout A-549 Cell Line | EDJ-KQ29924 | Human | 7866 | Details Get a Quote |
| IFRD2 Knockout HCT 116 Cell Line | EDJ-KQ29925 | Human | 7866 | Details Get a Quote |
| IFRD2 Knockout HeLa Cell Line | EDJ-KQ29926 | Human | 7866 | Details Get a Quote |
