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. 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). Is expressed in several structures, including cranium; integument; nervous system; neural rod; and neural tube. 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