DYRK1B
Dual Specificity Tyrosine Phosphorylation Regulated Kinase 1B
Gene Information Card
| Symbol | DYRK1B |
|---|---|
| Full Name | Dual specificity tyrosine phosphorylation regulated kinase 1B |
| Gene Type | Protein coding |
| Chromosomal Location | 19q13.2 |
| NCBI Gene ID | 9149 ncbi.nlm.nih.gov/gene/9149 |
| Ensembl ID | ENSG00000125845 |
| UniProt ID | Q9Y463 |
| OMIM ID | 604556 |
| HGNC ID | 3092 |
| Aliases | MIRK |
Description
DYRK1B (dual specificity tyrosine phosphorylation regulated kinase 1B) encodes a member of the DYRK family of protein kinases. The protein is a dual-specificity kinase that autophosphorylates on tyrosine residues and phosphorylates serine/threonine residues in substrates. DYRK1B plays a role in cell cycle regulation, differentiation, and metabolic homeostasis. Mutations in DYRK1B are associated with autosomal dominant metabolic syndrome (MSS) and have been implicated in cancer.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Metabolic syndrome, mild, with or without diabetes (MSS) | Missense mutations (e.g., R102C, H90P) lead to gain-of-function, increasing DYRK1B kinase activity, which suppresses glucose uptake and promotes adipogenesis. | OMIM #615812; ClinVar |
| Type 2 diabetes mellitus | DYRK1B overexpression impairs insulin signaling and glucose transporter expression. | OMIM #125853; NCBI Gene |
| Ovarian cancer | DYRK1B (MIRK) is overexpressed and promotes survival of ovarian cancer cells by inhibiting apoptosis. | COSMIC; PubMed studies |
| Pancreatic cancer | DYRK1B overexpression correlates with poor prognosis and resistance to chemotherapy. | COSMIC; PubMed studies |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Skeletal muscle | 12.5 | Medium |
| Heart | 9.8 | Medium |
| Liver | 6.2 | Low |
| Pancreas | 5.1 | Low |
| Adipose tissue | 4.3 | Low |
| Ovary | 3.7 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HeLa | 8.5 | Cervical cancer cell line |
| HepG2 | 6.0 | Hepatocellular carcinoma |
| MCF7 | 4.2 | Breast cancer |
| SK-OV-3 | 7.8 | Ovarian cancer |
| PANC-1 | 5.5 | Pancreatic cancer |
Data source:Human Protein Atlas(proteinatlas.org)
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| R102C | Missense | <0.01% (rare) | Gain-of-function; associated with metabolic syndrome |
| H90P | Missense | <0.01% (rare) | Gain-of-function; associated with metabolic syndrome |
| E256K | Missense | <0.01% (rare) | Unknown significance |
| A391T | Missense | <0.01% (rare) | Unknown significance |
Mutation functional classification
Loss of Function (LOF)
No confirmed loss-of-function mutations reported in DYRK1B.
Gain of Function (GOF)
R102C and H90P mutations increase kinase activity, leading to metabolic syndrome.
Dominant Negative (DN)
No dominant-negative mutations reported.
View complete mutation data:
Gene Ontology (GO)
| • GO:0004672 (GO:0004672) | • GO:0004674 (GO:0004674) |
| • GO:0005524 (GO:0005524) | • GO:0006468 (GO:0006468) |
| • GO:0006915 (GO:0006915) | • GO:0007049 (GO:0007049) |
| • GO:0008283 (GO:0008283) | • GO:0016301 (GO:0016301) |
| • GO:0016310 (GO:0016310) | • GO:0035556 (GO:0035556) |
Pathways
• Insulin signaling pathway (KEGG: hsa04910)
• Cell cycle (KEGG: hsa04110)
• Apoptosis (KEGG: hsa04210)
Protein Summary
DYRK1B is a 629-amino acid dual-specificity protein kinase that autophosphorylates on tyrosine and phosphorylates serine/threonine residues. It contains a nuclear localization signal and a DYRK homology box. The protein regulates cell cycle progression, differentiation, and metabolism. It is overexpressed in several cancers and mutated in familial metabolic syndrome.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| DYRK1B Knockout HEK293 Cell Line | EDJ-KQ6476 | Human | 9149 | Details Get a Quote |
| DYRK1B Knockout A-549 Cell Line | EDJ-KQ30586 | Human | 9149 | Details Get a Quote |
| DYRK1B Knockout HCT 116 Cell Line | EDJ-KQ30587 | Human | 9149 | Details Get a Quote |
| DYRK1B Knockout HeLa Cell Line | EDJ-KQ30588 | Human | 9149 | Details Get a Quote |