DYRK4
Dual Specificity Tyrosine Phosphorylation Regulated Kinase 4
Gene Information Card
| Symbol | DYRK4 |
|---|---|
| Full Name | Dual Specificity Tyrosine Phosphorylation Regulated Kinase 4 |
| Gene Type | Protein coding |
| Chromosomal Location | 12p13.32 |
| NCBI Gene ID | 8798 ncbi.nlm.nih.gov/gene/8798 |
| Ensembl ID | ENSG00000110274 |
| UniProt ID | Q9NR20 |
| OMIM ID | 603424 |
| HGNC ID | 3096 |
| Aliases | DYRK4A, DYRK4B, MGC138207 |
Description
DYRK4 (Dual Specificity Tyrosine Phosphorylation Regulated Kinase 4) is a protein-coding gene that belongs to the DYRK family of dual-specificity kinases. It phosphorylates serine, threonine, and tyrosine residues and is involved in cell cycle regulation, neuronal development, and ciliogenesis. DYRK4 is expressed in multiple tissues, including testis, brain, and kidney.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| No specific disease association reported in ClinVar or OMIM | Not established | No evidence |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 12.5 | Medium |
| Brain | 6.2 | Low |
| Kidney | 4.8 | Low |
| Liver | 2.1 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK293 | 8.3 | Moderate expression |
| HeLa | 5.1 | Low expression |
| K562 | 3.0 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.101C>T (p.Thr34Met) | Missense | 0.001% (gnomAD) | Unknown functional effect |
| c.457G>A (p.Gly153Ser) | Missense | 0.002% (gnomAD) | Unknown functional effect |
Mutation functional classification
Loss of Function (LOF)
No confirmed loss-of-function mutations reported.
Gain of Function (GOF)
No confirmed gain-of-function mutations reported.
Dominant Negative (DN)
No confirmed dominant-negative mutations reported.
View complete mutation data：
Gene Ontology (GO)
Pathways
• Not assigned to any specific pathway in Reactome or KEGG
Protein Summary
DYRK4 encodes a 520-amino acid dual-specificity kinase that contains a conserved DYRK homology domain and a nuclear localization signal. The protein autophosphorylates on tyrosine residues and phosphorylates exogenous substrates on serine/threonine. It is implicated in cell cycle progression and cilia function.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| DYRK4 Knockout HEK293 Cell Line | EDJ-KQ3455 | Human | 8798 | Details Get a Quote |
| DYRK4 Knockout A-549 Cell Line | EDJ-KQ25198 | Human | 8798 | Details Get a Quote |
| DYRK4 Knockout HCT 116 Cell Line | EDJ-KQ25199 | Human | 8798 | Details Get a Quote |
| DYRK4 Knockout HeLa Cell Line | EDJ-KQ25200 | Human | 8798 | Details Get a Quote |
