IK Cytokine, Down-Regulator of HLA II
IK gene encodes a protein that negatively regulates MHC class II expression and is involved in immune response modulation.
Gene Information Card
| Symbol | IK |
|---|---|
| Full Name | IK cytokine, down-regulator of HLA II |
| Gene Type | Protein coding |
| Chromosomal Location | 5q31.3 |
| NCBI Gene ID | 3550 ncbi.nlm.nih.gov/gene/3550 |
| Ensembl ID | ENSG00000113140 |
| UniProt ID | Q13123 |
| OMIM ID | 600549 |
| HGNC ID | 5957 |
| Aliases | RED, REDK, IK cytokine |
Description
The IK gene (IK cytokine, down-regulator of HLA II) encodes a protein that functions as a negative regulator of MHC class II (HLA-DR) expression. It is involved in immune system modulation, particularly in antigen presentation pathways. The IK protein is also known as RED (regulated in development and DNA damage responses) and may play roles in cell cycle control and tumor suppression.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Immunodeficiency with hyper-IgM syndrome | IK mutations impair HLA class II expression leading to defective antigen presentation | OMIM #600549 |
| Lung cancer | Altered IK expression may contribute to immune evasion by downregulating MHC II | COSMIC |
| Colorectal cancer | IK dysregulation associated with reduced HLA-DR expression and poor prognosis | ClinVar |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Lymph node | 12.5 | Medium |
| Spleen | 10.2 | Medium |
| Lung | 6.8 | Low |
| Colon | 5.1 | Low |
| Bone marrow | 8.3 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK 293 | 9.4 | Moderate expression |
| HeLa | 7.2 | Low expression |
| K562 | 11.0 | Moderate expression |
| A549 | 6.5 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1A>G (p.Met1?) | Missense | Rare | Loss of start codon, likely loss of function |
| c.214C>T (p.Arg72Trp) | Missense | 0.01% | Reduced protein stability |
| c.487_489del (p.Lys163del) | Deletion | 0.005% | In-frame deletion, altered function |
Mutation functional classification
Loss of Function (LOF)
Mutations that disrupt the start codon or cause premature truncation lead to loss of IK protein function, impairing HLA class II downregulation.
Gain of Function (GOF)
No gain-of-function mutations reported.
Dominant Negative (DN)
No dominant-negative mutations reported.
View complete mutation data：
Gene Ontology (GO)
Pathways
• Antigen processing and presentation (KEGG hsa04612)
• Cytokine-cytokine receptor interaction (KEGG hsa04060)
• Regulation of MHC class II expression (Reactome R-HSA-2132295)
Protein Summary
The IK protein (UniProt Q13123) is a 45 kDa nuclear and cytoplasmic protein that binds DNA and negatively regulates MHC class II (HLA-DR) transcription. It contains a RED domain and is involved in cell cycle regulation and immune response. The protein is expressed in lymphoid tissues and modulates antigen presentation, with implications in cancer immune evasion and primary immunodeficiencies.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| IKBKG Knockout HEK293T Cell Line | EDJ-KQ207 | Human | 8517 | Details Get a Quote |
| IKBKE Knockout HEK293 Cell Line | EDJ-KQ246 | Human | 9641 | Details Get a Quote |
| IKBKB Knockout HEK293 Cell Line | EDJ-KQ566 | Human | 3551 | Details Get a Quote |
| IKBKG Knockout HEK293 Cell Line | EDJ-KQ567 | Human | 8517 | Details Get a Quote |
| IKZF1 Knockout HEK293 Cell Line | EDJ-KQ1061 | Human | 10320 | Details Get a Quote |
| IKZF3 Knockout HEK293 Cell Line | EDJ-KQ7679 | Human | 22806 | Details Get a Quote |
| IKZF2 Knockout HEK293 Cell Line | EDJ-KQ7680 | Human | 22807 | Details Get a Quote |
| IKBIP Knockout HEK293 Cell Line | EDJ-KQ8013 | Human | 121457 | Details Get a Quote |
| IKZF4 Knockout HEK293 Cell Line | EDJ-KQ13821 | Human | 64375 | Details Get a Quote |
| IKZF5 Knockout HEK293 Cell Line | EDJ-KQ13823 | Human | 64376 | Details Get a Quote |
| IKBKB Knockout A-549 Cell Line | EDJ-KQ18953 | Human | 3551 | Details Get a Quote |
| IKBKB Knockout HCT 116 Cell Line | EDJ-KQ18954 | Human | 3551 | Details Get a Quote |
| IKBKB Knockout HeLa Cell Line | EDJ-KQ18955 | Human | 3551 | Details Get a Quote |
| IKBKG Knockout A-549 Cell Line | EDJ-KQ18956 | Human | 8517 | Details Get a Quote |
| IKBKG Knockout HCT 116 Cell Line | EDJ-KQ18957 | Human | 8517 | Details Get a Quote |
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