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 enable fibroblast growth factor binding activity and fibroblast growth factor receptor activity. Acts upstream of or within regulation of hematopoietic stem cell differentiation. Predicted to be located in membrane. Predicted to be part of receptor complex. Predicted to be active in plasma membrane. Is expressed in several structures, including cranium; gut; nervous system; neural rod; and neural tube. Human ortholog(s) of this gene implicated in several diseases, including Human papillomavirus infectious disease; LADD syndrome; SADDAN; bone disease (multiple); and carcinoma (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