Gene
fgfr2
- ID
- ZDB-GENE-030323-1
- Name
- fibroblast growth factor receptor 2
- Symbol
- fgfr2 Nomenclature History
- Previous Names
- Type
- protein_coding_gene
- Location
- Chr: 13 Mapping Details/Browsers
- Description
- Enables fibroblast growth factor binding activity. Acts upstream of or within several processes, including determination of left/right symmetry; nervous system development; and pectoral fin development. Predicted to be located in Golgi apparatus. Predicted to be part of receptor complex. Predicted to be active in plasma membrane. Is expressed in several structures, including cranium; digestive system; mesoderm; nervous system; and trunk vasculature. Human ortholog(s) of this gene implicated in several diseases, including Beare-Stevenson cutis gyrata syndrome; breast cancer (multiple); gastrointestinal system cancer (multiple); reproductive organ cancer (multiple); and synostosis (multiple). Orthologous to human FGFR2 (fibroblast growth factor receptor 2).
- Genome Resources
- Note
- None
- Comparative Information
-
- All Expression Data
- 62 figures from 38 publications
- Cross-Species Comparison
- High Throughput Data
- Thisse Expression Data
-
- cssl:d0138 (23 images)
Wild Type Expression Summary
- All Phenotype Data
- 16 figures from 7 publications
- Cross-Species Comparison
- Alliance
Phenotype Summary
Mutations
Human Disease
Disease Ontology Term | Multi-Species Data | OMIM Term | OMIM Phenotype ID |
---|---|---|---|
acrocephalosyndactylia | Alliance | Apert syndrome | 101200 |
Antley-Bixler syndrome without disordered steroidogenesis | Alliance | Antley-Bixler syndrome without genital anomalies or disordered steroidogenesis | 207410 |
Beare-Stevenson cutis gyrata syndrome | Alliance | Beare-Stevenson cutis gyrata syndrome | 123790 |
bent bone dysplasia syndrome 1 | Alliance | Bent bone dysplasia syndrome | 614592 |
Crouzon syndrome | Alliance | Crouzon syndrome | 123500 |
Jackson-Weiss syndrome | Alliance | Jackson-Weiss syndrome | 123150 |
lacrimoauriculodentodigital syndrome 1 | Alliance | LADD syndrome 1 | 149730 |
Pfeiffer syndrome | Alliance | Craniofacial-skeletal-dermatologic dysplasia | 101600 |
Pfeiffer syndrome | Alliance | Pfeiffer syndrome | 101600 |
pre-eclampsia | Alliance | Bent bone dysplasia syndrome | 614592 |
Saethre-Chotzen syndrome | Alliance | Saethre-Chotzen syndrome | 101400 |
stomach cancer | Alliance | Gastric cancer, somatic | 613659 |
Craniosynostosis, nonspecific | |||
Scaphocephaly and Axenfeld-Rieger anomaly | |||
?Scaphocephaly, maxillary retrusion, and impaired intellectual development | 609579 |
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 | 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 | Additional Resources | Length | Fibroblast growth factor receptor family | Immunoglobulin domain subtype | Immunoglobulin I-set | 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:A0A8M2BGU2 | InterPro | 836 | ||||||||||||||
UniProtKB:F1RBS5 | InterPro | 815 | ||||||||||||||
UniProtKB:A4QN31 | InterPro | 728 | ||||||||||||||
UniProtKB:A0A8M1NYP8 | InterPro | 817 | ||||||||||||||
UniProtKB:Q8JG38 | InterPro | 817 | ||||||||||||||
UniProtKB:F1RBT3 | InterPro | 815 | ||||||||||||||
UniProtKB:A0AB32TZN5 | InterPro | 840 | ||||||||||||||
UniProtKB:A0AB32U1A3 | InterPro | 726 | ||||||||||||||
UniProtKB:A0AB32U1P5 | InterPro | 838 | ||||||||||||||
UniProtKB:A0AB32U4Z2 | InterPro | 751 |
Interactions and Pathways
Plasmids
No data available