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; 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
- 59 figures from 36 publications
- Cross-Species Comparison
- High Throughput Data
- Thisse Expression Data
-
- eu563 (17 images)
Wild Type Expression Summary
- All Phenotype Data
- 10 figures from 3 publications
- 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 |
lacrimoauriculodentodigital syndrome 2 | Alliance | LADD syndrome 2 | 620192 |
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 domain subtype |
Domain | IPR007110 | Immunoglobulin-like domain |
Domain | IPR013098 | Immunoglobulin I-set |
Domain | IPR013151 | Immunoglobulin-like beta-sandwich domain |
Domain | IPR020635 | Tyrosine-protein kinase, catalytic domain |
Family | IPR016248 | Fibroblast growth factor receptor family |
Family | IPR050122 | Receptor Tyrosine Kinase |
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 domain subtype | Immunoglobulin I-set | Immunoglobulin-like beta-sandwich domain | Immunoglobulin-like domain | Immunoglobulin-like domain superfamily | Immunoglobulin-like fold | Immunoglobulin subtype 2 | Protein kinase, ATP binding site | 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, catalytic domain |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
UniProtKB:A0A8M9QFK2
|
815 | |||||||||||||||
UniProtKB:A0A8M9QJU4
|
731 | |||||||||||||||
UniProtKB:A0A8M9QJU0
|
820 | |||||||||||||||
UniProtKB:A0A8M6Z1R4
|
820 | |||||||||||||||
UniProtKB:A0A8M3B533
|
816 | |||||||||||||||
UniProtKB:A0A8M9Q9W6
|
821 | |||||||||||||||
UniProtKB:A0A8M9QNI1
|
820 | |||||||||||||||
UniProtKB:Q9I8X3
|
800 | |||||||||||||||
UniProtKB:A0A8M9Q9X2
|
816 | |||||||||||||||
UniProtKB:F1QPA0
|
819 | |||||||||||||||
UniProtKB:A0A8M9PY42
|
817 | |||||||||||||||
UniProtKB:A0A8M9QFJ7
|
821 | |||||||||||||||
UniProtKB:A0A8M3B7V7
|
820 | |||||||||||||||
UniProtKB:A0A8M9QNI4
|
732 |
Interactions and Pathways
Plasmids
No data available