AKIRIN2
Nuclear factor involved in innate immunity and transcriptional regulation
Gene Information Card
| Symbol | AKIRIN2 |
|---|---|
| Full Name | akirin 2 |
| Gene Type | protein-coding |
| Chromosomal Location | 6q15 |
| NCBI Gene ID | 55122 ncbi.nlm.nih.gov/gene/55122 |
| Ensembl ID | ENSG00000135334 |
| UniProt ID | Q53H80 |
| OMIM ID | 615164 |
| HGNC ID | 25313 |
| Aliases | FLJ10968, MGC13170, dJ337O18.2 |
Description
AKIRIN2 encodes a nuclear protein that plays a critical role in innate immune responses by modulating NF-κB signaling and chromatin remodeling. It is involved in the transcriptional regulation of pro-inflammatory cytokines and is essential for myogenesis and neural development.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Neurodevelopmental disorder with hypotonia and brain abnormalities | Loss-of-function mutations impair NF-κB signaling and neural development | ClinVar, OMIM |
| Susceptibility to infection | Altered innate immune response due to AKIRIN2 deficiency | NCBI Gene, PubMed |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Skeletal muscle | 12.5 | Medium |
| Brain | 8.3 | Medium |
| Heart | 7.1 | Medium |
| Liver | 4.2 | Low |
| Lung | 3.8 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HeLa | 9.0 | Cervical carcinoma |
| HEK 293 | 7.5 | Embryonic kidney |
| K562 | 6.2 | Leukemia |
| HepG2 | 5.1 | Hepatocellular carcinoma |
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.325C>T (p.Arg109*) | Nonsense | Rare | Premature stop, loss of function |
| c.487G>A (p.Gly163Arg) | Missense | Rare | Impaired protein function |
Mutation functional classification
Loss of Function (LOF)
Nonsense and frameshift mutations leading to truncated or absent protein, associated with neurodevelopmental disorders.
Gain of Function (GOF)
Not reported.
Dominant Negative (DN)
Not reported.
View complete mutation data：
Gene Ontology (GO)
| • GO:0005634 (nucleus) | • GO:0003712 (transcription coregulator activity) |
| • GO:0045944 (positive regulation of transcription by RNA polymerase II) | • GO:0007250 (activation of NF-κB-inducing kinase activity) |
| • GO:0045087 (innate immune response) |
Pathways
• NF-κB signaling pathway
• Toll-like receptor signaling pathway
• Interleukin-1 signaling
Protein Summary
AKIRIN2 is a 201-amino-acid nuclear protein that contains a conserved N-terminal domain and a C-terminal region involved in protein-protein interactions. It functions as a transcriptional cofactor, bridging NF-κB and chromatin remodeling complexes to regulate gene expression. It is ubiquitously expressed with highest levels in skeletal muscle and brain.
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