Gene
ror2
- ID
- ZDB-GENE-060427-5
- Name
- receptor tyrosine kinase-like orphan receptor 2
- Symbol
- ror2 Nomenclature History
- Previous Names
- None
- Type
- protein_coding_gene
- Location
- Chr: 10 Mapping Details/Browsers
- Description
- Enables protein heterodimerization activity. Acts upstream of or within convergent extension involved in gastrulation. Predicted to be located in membrane. Predicted to be part of receptor complex. Predicted to be active in plasma membrane. Is expressed in brain and female organism. Human ortholog(s) of this gene implicated in autosomal recessive Robinow syndrome; brachydactyly type B1; and cleft palate. Orthologous to human ROR2 (receptor tyrosine kinase like orphan receptor 2).
- Genome Resources
- Note
- None
- Comparative Information
- All Expression Data
- 5 figures from 5 publications
- Cross-Species Comparison
- High Throughput Data
- Thisse Expression Data
- No data available
Wild Type Expression Summary
Phenotype Summary
Mutations
Human Disease
Disease Ontology Term | Multi-Species Data | OMIM Term | OMIM Phenotype ID |
---|---|---|---|
autosomal recessive Robinow syndrome | Alliance | Robinow syndrome, autosomal recessive | 268310 |
brachydactyly type B1 | Alliance | Brachydactyly, type B1 | 113000 |
Domain, Family, and Site Summary
Type | InterPro ID | Name |
---|---|---|
Active_site | IPR008266 | Tyrosine-protein kinase, active site |
Conserved_site | IPR018056 | Kringle, conserved site |
Domain | IPR000001 | Kringle |
Domain | IPR000719 | Protein kinase domain |
Domain | IPR001245 | Serine-threonine/tyrosine-protein kinase, catalytic domain |
Domain | IPR003598 | Immunoglobulin subtype 2 |
Domain | IPR003599 | Immunoglobulin domain subtype |
Domain | IPR007110 | Immunoglobulin-like domain |
Domain | IPR013098 | Immunoglobulin I-set |
Domain | IPR020067 | Frizzled domain |
Family | IPR016247 | Tyrosine-protein kinase, receptor ROR |
Family | IPR050122 | Receptor Tyrosine Kinase |
Homologous_superfamily | IPR011009 | Protein kinase-like domain superfamily |
Homologous_superfamily | IPR013783 | Immunoglobulin-like fold |
Homologous_superfamily | IPR013806 | Kringle-like fold |
Homologous_superfamily | IPR036179 | Immunoglobulin-like domain superfamily |
Homologous_superfamily | IPR036790 | Frizzled cysteine-rich domain superfamily |
Homologous_superfamily | IPR038178 | Kringle superfamily |
Domain Details Per Protein
Protein | Length | Frizzled cysteine-rich domain superfamily | Frizzled domain | Immunoglobulin domain subtype | Immunoglobulin I-set | Immunoglobulin-like domain | Immunoglobulin-like domain superfamily | Immunoglobulin-like fold | Immunoglobulin subtype 2 | Kringle | Kringle, conserved site | Kringle-like fold | Kringle superfamily | Protein kinase domain | Protein kinase-like domain superfamily | Receptor Tyrosine Kinase | Serine-threonine/tyrosine-protein kinase, catalytic domain | Tyrosine-protein kinase, active site | Tyrosine-protein kinase, receptor ROR |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
UniProtKB:E7FCE4
|
939 |
Interactions and Pathways
Plasmids
No data available