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-activated receptor activity. Acts upstream of or within regulation of hematopoietic stem cell differentiation. Predicted to be located in plasma membrane. Predicted to be integral component of membrane. Predicted to be part of receptor complex. Predicted to be integral component of 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 Crouzon syndrome-acanthosis nigricans syndrome; LADD syndrome; SADDAN; bone development disease (multiple); and carcinoma (multiple). Orthologous to human FGFR3 (fibroblast growth factor receptor 3).
- Genome Resources
- Note
- None
- Comparative Information
-
- All Expression Data
- 51 figures from 31 publications
- Cross-Species Comparison
- High Throughput Data
- Thisse Expression Data
-
- eu563 (17 images)
Wild Type Expression Summary
- All Phenotype Data
- 1 Figure from Pouget et al., 2014
- Cross-Species Comparison
- Alliance
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 |
| LADD syndrome | Alliance | LADD syndrome | 149730 |
| 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 |
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 |
| Domain | IPR041159 | Fibroblast growth factor receptor, transmembrane 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 | Fibroblast growth factor receptor, transmembrane domain | 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:Q9I8X3
|
800 | ||||||||||||||
|
UniProtKB:Q9DE16
|
209 | ||||||||||||||
|
UniProtKB:A0A2R8QM35
|
304 | ||||||||||||||
|
UniProtKB:F1QPA0
|
819 | ||||||||||||||
|
UniProtKB:B3DGT9
|
800 |
Interactions and Pathways
Plasmids
No data available