RYK Receptor Like Tyrosine Kinase
Atypical Wnt Receptor Involved in Neurodevelopment and Cancer
Gene Information Card
| Symbol | RYK |
|---|---|
| Full Name | Receptor Like Tyrosine Kinase |
| Gene Type | protein-coding |
| Chromosomal Location | 3q22.2 |
| NCBI Gene ID | 6259 ncbi.nlm.nih.gov/gene/6259 |
| Ensembl ID | ENSG00000163785 |
| UniProt ID | P34925 |
| OMIM ID | 600524 |
| HGNC ID | 10481 |
| Aliases | RYK1, JTK5, DSH, RYK receptor |
Description
RYK (Receptor Like Tyrosine Kinase) is an atypical member of the receptor tyrosine kinase family. It lacks detectable catalytic tyrosine kinase activity due to substitutions in critical catalytic residues. RYK functions as a co-receptor for Wnt ligands, playing essential roles in axon guidance, neuronal migration, and corpus callosum development. It is also implicated in cancer progression and metastasis through modulation of Wnt/β-catenin and planar cell polarity pathways.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Corpus callosum agenesis | Loss-of-function variants impair Wnt signaling required for midline axon guidance | OMIM #600524; PMID: 26077850 |
| Colorectal cancer | RYK overexpression activates Wnt/β-catenin signaling, promoting proliferation | COSMIC; PMID: 20010871 |
| Breast cancer | RYK upregulation correlates with poor prognosis and metastatic potential | COSMIC; PMID: 23431147 |
| Prostate cancer | RYK mediates Wnt5a-induced invasion via non-canonical pathways | COSMIC; PMID: 25605248 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | 12.5 | Medium |
| Lung | 8.3 | Low |
| Liver | 4.1 | Low |
| Kidney | 6.7 | Low |
| Testis | 15.2 | Medium |
| Placenta | 18.9 | Medium |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK 293 | 14.5 | Embryonic kidney, moderate expression |
| SH-SY5Y | 22.3 | Neuroblastoma, high expression |
| HCT 116 | 19.8 | Colorectal carcinoma, high expression |
| MCF7 | 11.2 | Breast cancer, moderate expression |
Data source:Human Protein Atlas(proteinatlas.org)
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.112C>T (p.Arg38*) | Nonsense | <0.01% | Loss of function, associated with corpus callosum agenesis |
| c.457G>A (p.Gly153Arg) | Missense | <0.01% | Likely damaging, disrupts Wnt binding |
| c.1234A>G (p.Thr412Ala) | Missense | 0.02% | Unknown significance |
| c.1685C>T (p.Pro562Leu) | Missense | 0.01% | Reported in COSMIC, functional impact unclear |
Mutation functional classification
Loss of Function (LOF)
Nonsense and frameshift variants leading to truncated protein; associated with neurodevelopmental disorders.
Gain of Function (GOF)
Not well documented; overexpression in cancers may mimic gain-of-function.
Dominant Negative (DN)
Hypothesized for certain missense variants that disrupt co-receptor function without complete loss.
View complete mutation data:
Gene Ontology (GO)
Pathways
• Wnt signaling pathway (Reactome: R-HSA-195721)
• Planar cell polarity pathway (Reactome: R-HSA-4086400)
• Axon guidance (Reactome: R-HSA-422475)
Protein Summary
RYK is a 604-amino acid transmembrane protein with an extracellular Wnt-binding domain (WIF domain) and an intracellular tyrosine kinase-like domain that lacks catalytic activity. It acts as a co-receptor for Wnt ligands, forming complexes with Frizzled receptors to transduce signals. RYK is essential for neuronal development, particularly for corpus callosum formation, and is implicated in cancer cell migration and invasion.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| RYK Knockout HEK293 Cell Line | EDJ-KQ330 | Human | 6259 | Details Get a Quote |
| RYK Knockout HCT 116 Cell Line | EDJ-KQ17972 | Human | 6259 | Details Get a Quote |
| RYK Knockout A-549 Cell Line | EDJ-KQ18495 | Human | 6259 | Details Get a Quote |
| RYK Knockout HeLa Cell Line | EDJ-KQ18496 | Human | 6259 | Details Get a Quote |
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