VRK2: Vaccinia Related Kinase 2
A serine/threonine kinase involved in cell cycle control, apoptosis, and neurodevelopment, with implications in epilepsy and cancer.
Gene Information Card
| Symbol | VRK2 |
|---|---|
| Full Name | Vaccinia Related Kinase 2 |
| Gene Type | Protein coding |
| Chromosomal Location | 2p16.1 |
| NCBI Gene ID | 7444 ncbi.nlm.nih.gov/gene/7444 |
| Ensembl ID | ENSG00000115956 |
| UniProt ID | Q86Y07 |
| OMIM ID | 602169 |
| HGNC ID | 12719 |
| Aliases | VRK2A, VRK2B |
Description
VRK2 (Vaccinia Related Kinase 2) encodes a serine/threonine kinase belonging to the vaccinia-related kinase (VRK) family. The protein is involved in cell cycle regulation, particularly G2/M transition, and plays a role in apoptosis, chromatin condensation, and response to DNA damage. VRK2 also interacts with the BAF (barrier-to-autointegration factor) protein and modulates signaling pathways including p53 and MAPK. Alternative splicing produces two isoforms: VRK2A (nuclear) and VRK2B (cytoplasmic).
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Epilepsy, idiopathic generalized, susceptibility to | Altered kinase activity may affect neuronal excitability or synaptic function; GWAS associations | ClinVar, OMIM |
| Epilepsy, juvenile myoclonic, susceptibility to | Genetic variant (e.g., rs17183814) linked to increased risk; mechanism unclear | ClinVar, OMIM |
| Breast cancer | Overexpression or altered VRK2 levels may influence cell proliferation and apoptosis | COSMIC, PubMed |
| Lung cancer | Somatic mutations and copy number alterations reported; potential role in tumor progression | COSMIC |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 15.2 | Medium |
| Brain | 10.8 | Medium |
| Lung | 8.5 | Medium |
| Liver | 6.3 | Low |
| Heart | 5.1 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK 293 | 12.4 | Embryonic kidney; high expression |
| HeLa | 9.8 | Cervical carcinoma; moderate expression |
| A549 | 7.2 | Lung carcinoma; moderate expression |
| MCF7 | 6.5 | Breast carcinoma; low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.106G>A (p.Gly36Arg) | Missense | <0.01% | Unknown; reported in epilepsy cohorts |
| c.487C>T (p.Arg163Trp) | Missense | <0.01% | Unknown; rare variant |
| c.832G>A (p.Glu278Lys) | Missense | <0.01% | Unknown; reported in cancer |
| c.1135C>T (p.Arg379*) | Nonsense | <0.01% | Loss of function; truncation |
Mutation functional classification
Loss of Function (LOF)
Nonsense mutations (e.g., p.Arg379*) lead to truncated protein lacking kinase domain, reducing catalytic activity.
Gain of Function (GOF)
Not well characterized; some missense variants may increase kinase activity in cancer contexts.
Dominant Negative (DN)
Not reported for VRK2.
View complete mutation data：
Gene Ontology (GO)
| • GO:0004674 | • GO:0005524 |
| • GO:0006468 | • GO:0007049 |
| • GO:0006915 | • GO:0005634 |
| • GO:0005737 |
Pathways
• Cell cycle (G2/M transition)
• p53 signaling pathway
• Apoptosis
• MAPK signaling pathway
Protein Summary
VRK2 is a 508-amino acid serine/threonine kinase (UniProt Q86Y07) with an N-terminal kinase domain and a C-terminal regulatory region. It phosphorylates BAF (BANF1) to regulate chromatin structure and nuclear assembly. VRK2 also interacts with p53 and may modulate its transcriptional activity. Isoform VRK2A is predominantly nuclear, while VRK2B is cytoplasmic. The protein is expressed in multiple tissues, with highest levels in testis and brain.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| VRK2 Knockout HEK293 Cell Line | EDJ-KQ2647 | Human | 7444 | Details Get a Quote |
| VRK2 Knockout A-549 Cell Line | EDJ-KQ23412 | Human | 7444 | Details Get a Quote |
| VRK2 Knockout HCT 116 Cell Line | EDJ-KQ23413 | Human | 7444 | Details Get a Quote |
| VRK2 Knockout HeLa Cell Line | EDJ-KQ23414 | Human | 7444 | Details Get a Quote |
| VRK2 Knockout HAP1 Cell Line | EDC08018 | Human | 7444 | Details Get a Quote |
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