Gene
fgfr3
- ID
- ZDB-GENE-000816-1
- Name
- fibroblast growth factor receptor 3
- Symbol
- fgfr3 Nomenclature History
- Previous Names
-
- Z-FGFR3
- fc27h01
- sb:eu563
- wu:fc27h01 (1)
- Type
- protein_coding_gene
- Location
- Chr: 13 Mapping Details/Browsers
- Description
- Predicted to have fibroblast growth factor binding activity and fibroblast growth factor-activated receptor activity. Involved in regulation of hematopoietic stem cell differentiation. Predicted to localize to integral component of plasma membrane and receptor complex. Is expressed in several structures, including cranium; integument; nervous system; neural rod; and neural tube. Human ortholog(s) of this gene implicated in several diseases, including Crouzon syndrome-acanthosis nigricans syndrome; LADD syndrome; SADDAN; acanthosis nigricans; and bone development disease (multiple). Orthologous to human FGFR3 (fibroblast growth factor receptor 3).
- Genome Resources
- Note
- None
- Comparative Information
-
- All Expression Data
- 53 figures from 32 publications
- Cross-Species Comparison
- High Throughput Data
- Thisse Expression Data
-
- eu563 (17 images)
Wild Type Expression Summary
Phenotype Summary
Mutations
Human Disease
| Disease Ontology Term | Multi-Species Data | OMIM Term | OMIM Phenotype ID |
|---|---|---|---|
| achondroplasia | Alliance | Achondroplasia | 100800 |
| camptodactyly-tall stature-scoliosis-hearing loss syndrome | Alliance | CATSHL syndrome | 610474 |
| cervical cancer | Alliance | Cervical cancer, somatic | 603956 |
| colorectal cancer | Alliance | Colorectal cancer, somatic | 114500 |
| Crouzon syndrome-acanthosis nigricans syndrome | Alliance | Crouzon syndrome with acanthosis nigricans | 612247 |
| epidermal nevus | Alliance | Nevus, epidermal, somatic | 162900 |
| hypochondroplasia | Alliance | Hypochondroplasia | 146000 |
| Muenke Syndrome | Alliance | Muenke syndrome | 602849 |
| SADDAN | Alliance | SADDAN | 616482 |
| testicular germ cell cancer | Alliance | Spermatocytic seminoma, somatic | 273300 |
| thanatophoric dysplasia | Alliance | Thanatophoric dysplasia, type I | 187600 |
| thanatophoric dysplasia | Alliance | Thanatophoric dysplasia, type II | 187601 |
| urinary bladder cancer | Alliance | Bladder cancer, somatic | 109800 |
| LADD syndrome 2 | 620192 |
Domain, Family, and Site Summary
| Type | InterPro ID | Name |
|---|---|---|
| Active_site | IPR008266 | Tyrosine-protein kinase, active site |
| Binding_site | IPR017441 | Protein kinase, ATP binding site |
| Domain | IPR000719 | Protein kinase domain |
| Domain | IPR001245 | Serine-threonine/tyrosine-protein kinase, catalytic domain |
| Domain | IPR003598 | Immunoglobulin subtype 2 |
| Domain | IPR003599 | Immunoglobulin subtype |
| Domain | IPR007110 | Immunoglobulin-like domain |
| Domain | IPR013098 | Immunoglobulin I-set |
| Domain | IPR020635 | Tyrosine-protein kinase, catalytic domain |
| Family | IPR016248 | Fibroblast growth factor receptor family |
| Homologous_superfamily | IPR011009 | Protein kinase-like domain superfamily |
| Homologous_superfamily | IPR013783 | Immunoglobulin-like fold |
| Homologous_superfamily | IPR036179 | Immunoglobulin-like domain superfamily |
Domain Details Per Protein
| Protein | Length | Fibroblast growth factor receptor family | Immunoglobulin I-set | Immunoglobulin-like domain | Immunoglobulin-like domain superfamily | Immunoglobulin-like fold | Immunoglobulin subtype | Immunoglobulin subtype 2 | Protein kinase, ATP binding site | Protein kinase domain | Protein kinase-like domain superfamily | Serine-threonine/tyrosine-protein kinase, catalytic domain | Tyrosine-protein kinase, active site | Tyrosine-protein kinase, catalytic domain |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
UniProtKB:X1WBA9
|
382 | |||||||||||||
|
UniProtKB:A4JYQ2
|
802 | |||||||||||||
|
UniProtKB:A0A2R8QM35
|
304 | |||||||||||||
|
UniProtKB:Q9I8X3
|
800 | |||||||||||||
|
UniProtKB:F1QPA0
|
819 | |||||||||||||
|
UniProtKB:B3DGT9
|
800 | |||||||||||||
|
UniProtKB:Q9DE16
|
209 |
Interactions and Pathways
Plasmids
No data available