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
- Exhibits fibroblast growth factor binding activity. Involved in several processes, including cell proliferation in midbrain; determination of left/right symmetry; and 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 Antley-Bixler syndrome; Beare-Stevenson cutis gyrata syndrome; Jackson-Weiss syndrome; reproductive organ cancer (multiple); and synostosis (multiple). Is expressed in several structures, including anterior neural rod; digestive system; mesoderm; nervous system; and trunk vasculature. Orthologous to human FGFR2 (fibroblast growth factor receptor 2).
- Genome Resources
- Note
- None
- Comparative Information
- All Expression Data
- 58 figures from 36 publications
- Cross-Species Comparison
- High Throughput Data
- Thisse Expression Data
-
- cssl:d0138 (23 images)
Wild Type Expression Summary
- All Phenotype Data
- 14 figures from 6 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 | 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
|
836 | ||||||||||||||
UniProtKB:F1RBS5
|
815 | ||||||||||||||
UniProtKB:A4QN31
|
728 | ||||||||||||||
UniProtKB:A0A8M1NYP8
|
817 | ||||||||||||||
UniProtKB:Q8JG38
|
817 | ||||||||||||||
UniProtKB:F1RBT3
|
815 |
Interactions and Pathways
Plasmids
No data available